KinMutBase contains mutations from these publications ACVRL1 2001; 1997; 1996; AMHR2 1997; BMPR1A 2003; 2001; BMPR2 2001; 2000; BTK 2003; 2002; 2001; 2000; 1999; 1998; 1997; 1996; 1995; 1994; 1993; CDK4 1998; 1997; 1996; 1995; CHEK2 2003; 2002; 2000; FGFR1 2003; FGFR2 2002; FGFR3 2003; 2000; 1999; 1997; 1996; 1995; FLT3 2003; 2002; 2001; FLT4 2002; 2000; 1999; GUCY2D 2003; 2001; 2000; 1999; 1998; 1997; INSR 2002; 2000; 1999; 1998; 1997; 1995; 1994; 1993; 1992; 1991; 1990; 1989; 1988; IRAK4 2003; 1997; JAK3 2000; 1999; 1998; 1997; 1996; 1995; 1976; KIT 2003; 2002; 2001; 2000; 1999; 1998; 1997; 1996; 1995; 1993; 1992; 1991; LTK 2003; MERTK 2000; MET 2003; 2000; 1999; 1998; 1997; NTRK1 2000; 1999; 1996; PAK3 2003; 1998; PHKG2 2003; 2000; 1998; 1997; 1996; RET 2004; 2003; 2002; 2001; 2000; 1999; 1998; 1997; 1996; 1995; 1994; RHOK 1997; ROR2 2000; RPS6KA3 2001; 1999; 1997; STK11 2003; 2002; 2000; 1999; 1998; TEK 1999; 1997; TGFBR2 1998; 1997; 1996; 1995; ZAP70 2001; 2000; 1997; 1996; 1995; 1994; ACVRL1: Search PubMed latest citations for ACVRL1 mutations ACVRL1:2001 Mutations in the ALK-1 gene and the phenotype of hereditary hemorrhagic telangiectasia in two large danish families. Kjeldsen, A. D., Brusgaard, K., Poulsen, L., Kruse, T., Rasmussen, K., Green, A., Vase, P. Am J Med Genet 2001 98(4): 298-302 [PubMed abstract]. ACVRL1:1997 The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2. Berg, J. N., Gallione, C. J., Stenzel, T. T., Johnson, D. W., Allen, W. P., Schwartz, C. E., Jackson, C. E., Porteous, M. E., Marchuk, D. A. Am J Hum Genet 1997 61(1): 60-67 [PubMed abstract]. ACVRL1:1996 Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Johnson, D. W., Berg, J. N., Baldwin, M. A., Gallione, C. J., Marondel, I., Yoon, S. J., Stenzel, T. T., Speer, M., Pericak-Vance, M. A., Diamond, A., Guttmacher, A. E., Jackson, C. E., Attisano, L., Kucherlapati, R., Porteous, M. E., Marchuk, D. A. Nat Genet 1996 13(2): 189-195 [PubMed abstract]. AMHR2: Search PubMed latest citations for AMHR2 mutations AMHR2:1997 A 27 base-pair deletion of the anti-müllerian type II receptor gene is the most common cause of the persistent müllerian duct syndrome. Imbeaud, S., Belville, C., Messika-Zeitoun, L., Rey, R., di Clemente, N., Josso, N., Picard, J. Y. Hum Mol Genet 1997 5(9): 1269-1277 [PubMed abstract]. BMPR1A: Search PubMed latest citations for BMPR1A mutations BMPR1A:2003 Identification of a novel BMPR1A germline mutation in a korean juvenile polyposis patient without SMAD4 mutation. Kim, I. J., Park, J. H., Kang, H. C., Kim, K. H., Kim, J. H., Ku, J. L., Kang, S. B., Park, S. Y., Lee, J. S., Park, J. G. Clin Genet 2003 63(2): 126-130 [PubMed abstract]. BMPR1A:2001 Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis. 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. Nat Genet 2001 28(2): 184-187 [PubMed abstract]. Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of cowden and bannayan-riley-ruvalcaba syndromes. 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., Dunlop, M., Hodgson, S. V., Iwama, T., Jarvinen, H., Kellokumpu, I., Kim, J. C., Leggett, B., Markie, D., Mecklin, J. P., Neale, K., Phillips, R., Piris, J., Rozen, P., Houlston, R. S., Aaltonen, L. A., Tomlinson, I. P., Eng, C. Am J Hum Genet 2001 69(4): 704-711 [PubMed abstract]. BMPR2: Search PubMed latest citations for BMPR2 mutations BMPR2:2001 BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension. Machado, R. D., Pauciulo, M. W., Thomson, J. R., Lane, K. B., Morgan, N. V., Wheeler, L., Phillips, J. A., Newman, J., Williams, D., Galie, N., Manes, A., McNeil, K., Yacoub, M., Mikhail, G., Rogers, P., Corris, P., Humbert, M., Donnai, D., Martensson, G., Tranebjaerg, L., Loyd, J. E., Trembath, R. C., Nichols, W. C. Am J Hum Genet 2001 68(1): 92-102 [PubMed abstract]. BMPR2:2000 Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene. 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. Am J Hum Genet 2000 67(3): 737-744 [PubMed abstract]. Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. the international PPH consortium. Lane, K. B., Machado, R. D., Pauciulo, M. W., Thomson, J. R., Phillips, J. A., Loyd, J. E., Nichols, W. C., Trembath, R. C. Nat Genet 2000 26(1): 81-84 [PubMed abstract]. Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family. Thomson, J. R., Machado, R. D., Pauciulo, M. W., Morgan, N. V., Humbert, M., Elliott, G. C., Ward, K., Yacoub, M., Mikhail, G., Rogers, P., Newman, J., Wheeler, L., Higenbottam, T., Gibbs, J. S., Egan, J., Crozier, A., Peacock, A., Allcock, R., Corris, P., Loyd, J. E., Trembath, R. C., Nichols, W. C. J Med Genet 2000 37(10): 741-745 [PubMed abstract]. BTK: Search PubMed latest citations for BTK mutations BTK:2003 Bruton tyrosine kinase gene mutations in argentina. Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., Zelazko, M. Hum Mutat 2003 21(4): 451 [PubMed abstract]. Identification of mutations in the bruton's tyrosine kinase gene, including a novel genomic rearrangements resulting in large deletion, in korean X-linked agammaglobulinemia patients. Jo, E. K., Wang, Y., Kanegane, H., Futatani, T., Song, C. H., Park, J. K., Kim, J. S., Kim, D. S., Ahn, K. M., Lee, S. I., Park, H. J., Hahn, Y. S., Lee, J. H., Miyawaki, T. J Hum Genet 2003 48(6): 322-326 [PubMed abstract]. BTK:2002 Composition of precursor B-cell compartment in bone marrow from patients with X-linked agammaglobulinemia compared with healthy children. Noordzij, J. G., de Bruin-Versteeg, S., Comans-Bitter, W. M., Hartwig, N. G., Hendriks, R. W., de Groot, R., van Dongen, J. J. Pediatr Res 2002 51(2): 159-168 [PubMed abstract]. Identification of mutations of bruton's tyrosine kinase gene (BTK) in brazilian patients with X-linked agammaglobulinemia. Tani, S. M., Wang, Y., Kanegane, H., Futatani, T., Pinto, J., Vilela, M. M., Miyawaki, T. Hum Mutat 2002 20(3): 235-236 [PubMed abstract]. XLA patients with BTK splice-site mutations produce low levels of wild-type BTK transcripts. Noordzij, J. G., de Bruin-Versteeg, S., Hartwig, N. G., Weemaes, C. M., Gerritsen, E. J., Bernatowska, E., van Lierde, S., de Groot, R., van Dongen, J. J. J Clin Immunol 2002 22(5): 306-318 [PubMed abstract]. Novel insertions of bruton tyrosine kinase in patients with X-linked agammaglobulinemia. Okoh, M. P., Kainulainen, L., Heiskanen, K., Isa, M. N., Varming, K., Ruuskanen, O., Vihinen, M. Hum Mutat 2002 20(6): 480-481 [PubMed abstract]. BTK:2001 A case of X-linked agammaglobulinemia diagnosed in adulthood. Stewart, D. M., Tian, L., Nelson, D. L. Clin Immunol 2001 99(1): 94-99 [PubMed abstract]. Molecular analysis of bruton's tyrosine kinase gene in spain. Rodriguez, M. C., Granados, E. L., Cerdan, A. F., Casariego, G. F. Hum Mutat 2001 18(1): 84 [PubMed abstract]. Bruton's tyrosine kinase is present in normal platelets and its absence identifies patients with X-linked agammaglobulinaemia and carrier females. Futatani, T., Watanabe, C., Baba, Y., Tsukada, S., Ochs, H. D. Br J Haematol 2001 114(1): 141-149 [PubMed abstract]. Analysis of btk mutations in patients with X-linked agammaglobulinaemia (XLA) and determination of carrier status in normal female relatives: a nationwide study of btk deficiency in greece. Speletas, M., Kanariou, M., Kanakoudi-Tsakalidou, F., Papadopoulou-Alataki, E., Arvanitidis, K., Pardali, E., Constantopoulos, A., Kartalis, G., Vihinen, M., Sideras, P., Ritis, K. Scand J Immunol 2001 54(3): 321-327 [PubMed abstract]. Characterization of mutations, including a novel regulatory defect in the first intron, in bruton's tyrosine kinase gene from seven korean X-linked agammaglobulinemia families. Jo, E. K., Kanegane, H., Nonoyama, S., Tsukada, S., Lee, J. H., Lim, K., Shong, M., Song, C. H., Kim, H. J., Park, J. K., Miyawaki, T. J Immunol 2001 167(7): 4038-4045 [PubMed abstract]. Recurrent pneumonia with mild hypogammaglobulinemia diagnosed as X-linked agammaglobulinemia in adults. Usui, K., Sasahara, Y., Tazawa, R., Hagiwara, K., Tsukada, S., Miyawaki, T., Tsuchiya, S., Nukiwa, T. Respir Res 2001 2(3): 188-192 [PubMed abstract]. BTK:2000 Identification of nine novel mutations in the bruton's tyrosine kinase gene in X-linked agammaglobulinaemia patients. Orlandi, P., Ritis, K., Moschese, V., Angelini, F., Arvanitidis, K., Speletas, M., Sideras, P., Plebani, A., Rossi, P. Hum Mutat 2000 15(1): 117 [PubMed abstract]. Twin carriers of X-linked agammaglobulinemia (XLA) due to germline mutation in the btk gene. Curtis, S. K., Hebert, M. D., Saha, B. K. Am J Med Genet 2000 90(3): 229-232 [PubMed abstract]. Bruton's tyrosine kinase mutations in 8 chinese families with X-linked agammaglobulinemia. Yip, K. L., Chan, S. Y., Ip, W. K., Lau, Y. L. Hum Mutat 2000 15(4): 385 [PubMed abstract]. Detection of bruton's tyrosine kinase mutations in hypogammaglobulinaemic males registered as common variable immunodeficiency (CVID) in the japanese immunodeficiency registry. Kanegane, H., Tsukada, S., Iwata, T., Futatani, T., Nomura, K., Yamamoto, J., Yoshida, T., Agematsu, K., Komiyama, A., Miyawaki, T. Clin Exp Immunol 2000 120(3): 512-517 [PubMed abstract]. X-chromosome inactivation and mutation pattern in the bruton's tyrosine kinase gene in patients with X-linked agammaglobulinemia. italian XLA collaborative group. Moschese, V., Orlandi, P., Plebani, A., Arvanitidis, K., Fiorini, M., Speletas, M., Mella, P., Ritis, K., Sideras, P., Finocchi, A., Livadiotti, S., Rossi, P. Mol Med 2000 6(2): 104-113 [PubMed abstract]. Genetic defect in human X-linked agammaglobulinemia impedes a maturational evolution of pro-B cells into a later stage of pre-B cells in the B-cell differentiation pathway. Nomura, K., Kanegane, H., Karasuyama, H., Tsukada, S., Agematsu, K., Murakami, G., Sakazume, S., Sako, M., Tanaka, R., Kuniya, Y., Komeno, T., Ishihara, S., Hayashi, K., Kishimoto, T., Miyawaki, T. Blood 2000 96(2): 610-617 [PubMed abstract]. Bacteremia and skin/bone infections in two patients with X-linked agammaglobulinemia caused by an unusual organism related to flexispira/helicobacter species. Cuccherini, B., Chua, K., Gill, V., Weir, S., Wray, B., Stewart, D., Nelson, D., Fuss, I., Strober, W. Clin Immunol 2000 97(2): 121-129 [PubMed abstract]. BTK:1999 Recurrent bacteremia caused by a "flexispira"-like organism in a patient with X-linked (bruton's) agammaglobulinemia. Weir, S., Cuccherini, B., Whitney, A. M., Ray, M. L., MacGregor, J. P., Steigerwalt, A., Daneshvar, M. I., Weyant, R., Wray, B., Steele, J., Strober, W., Gill, V. J. J Clin Microbiol 1999 37(8): 2439-2445 [PubMed abstract]. BTK:1998 Deficient expression of bruton's tyrosine kinase in monocytes from X-linked agammaglobulinemia as evaluated by a flow cytometric analysis and its clinical application to carrier detection. Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S., Kunikata, T., Arai, S., Kurimoto, M., Niida, Y., Matsuoka, H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O., Yoshizaki, K., Kishimoto, T. Blood 1998 91(2): 595-602 [PubMed abstract]. Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course. Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B., Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., Belohradsky, B. H., Smith, C. I., Meindl, A. Pediatrics 1998 101(2): 276-284 [PubMed abstract]. Mutations in btk in patients with presumed X-linked agammaglobulinemia. Conley, M. E., Mathias, D., Treadaway, J., Minegishi, Y., Rohrer, J. Am J Hum Genet 1998 62(5): 1034-1043 [PubMed abstract]. Absence of bruton's tyrosine kinase (btk) mutations in patients with acute myeloid leukaemia. Ritis, K., Speletas, M., Tsironidou, V., Pardali, E., Kanariou, M., Moschese, V., Orlandi, P., Skordala, M., Rossi, P., Kartalis, G., Bourikas, G., Sideras, P. Br J Haematol 1998 102(5): 1241-1248 [PubMed abstract]. BTK:1997 Neutropenia in X-linked agammaglobulinemia. Farrar, J. E., Rohrer, J., Conley, M. E. Clin Immunol Immunopathol 1997 81(3): 271-276 [PubMed abstract]. Mutation pattern in the bruton's tyrosine kinase gene in 26 unrelated patients with X-linked agammaglobulinemia. Vorechovsky, I., Luo, L., Hertz, J. M., Froland, S. S., Klemola, T., Fiorini, M., Quinti, I., Paganelli, R., Ozsahin, H., Hammarstrom, L., Webster, A. D., Smith, C. I. Hum Mutat 1997 9(5): 418-425 [PubMed abstract]. Identification of novel bruton's tyrosine kinase mutations in 10 unrelated subjects with X linked agammaglobulinaemia. Brooimans, R. A., van den Berg, A. J., Rijkers, G. T., Sanders, L. A., van Amstel, J. K., Tilanus, M. G., Grubben, M. J., Zegers, B. J. J Med Genet 1997 34(6): 484-488 [PubMed abstract]. Molecular and structural characterization of five novel mutations in the bruton's tyrosine kinase gene from patients with X-linked agammaglobulinemia. Saha, B. K., Curtis, S. K., Vogler, L. B., Vihinen, M. Mol Med 1997 3(7): 477-485 [PubMed abstract]. BTK:1996 Improved oligonucleotide primer set for molecular diagnosis of X-linked agammaglobulinaemia: predominance of amino acid substitutions in the catalytic domain of bruton's tyrosine kinase. Vorechovsky, I., Luo, L., de Saint Basile, G., Hammarstrom, L., Webster, A. D., Smith, C. I. Hum Mol Genet 1996 4(12): 2403-2405 [PubMed abstract]. Identification of bruton's tyrosine kinase (btk) gene mutations and characterization of the derived proteins in 35 X-linked agammaglobulinemia families: a nationwide study of btk deficiency in japan. Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T., Niida, Y., Yachie, A., Kobayashi, S., Iwata, T., Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T., Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N., Kishimoto, T. Blood 1996 88(2): 561-573 [PubMed abstract]. Mutations of the btk gene in 12 unrelated families with X-linked agammaglobulinemia in japan. Kobayashi, S., Iwata, T., Saito, M., Iwasaki, R., Matsumoto, H., Naritaka, S., Kono, Y., Hayashi, Y. Hum Genet 1996 97(4): 424-430 [PubMed abstract]. BTK:1995 The spectrum of mutations in btk that cause X-linked agammaglobulinemia. Conley, M. E., Rohrer, J. Clin Immunol Immunopathol 1995 76(3 Pt 2): S192-197 [PubMed abstract]. Characterization of germline mutations of the gene encoding bruton's tyrosine kinase in families with X-linked agammaglobulinemia. Hagemann, T. L., Rosen, F. S., Kwan, S. P. Hum Mutat 1995 5(4): 296-302 [PubMed abstract]. Identification of btk mutations in 20 unrelated patients with X-linked agammaglobulinaemia (XLA). Jin, H., Webster, A. D., Vihinen, M., Sideras, P., Vorechovsky, I., Hammarstrom, L., Bernatowska-Matuszkiewicz, E., Smith, C. I., Bobrow, M., Vetrie, D. Hum Mol Genet 1995 4(4): 693-700 [PubMed abstract]. Mutation analysis in bruton's tyrosine kinase, the X-linked agammaglobulinaemia gene, including identification of an insertional hotspot. Gaspar, H. B., Bradley, L. A., Katz, F., Lovering, R. C., Roifman, C. M., Morgan, G., Levinsky, R. J., Kinnon, C. Hum Mol Genet 1995 4(4): 755-757 [PubMed abstract]. DNA-based mutation analysis of bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia. Vorechovsky, I., Vihinen, M., de Saint Basile, G., Honsova, S., Hammarstrom, L., Muller, S., Nilsson, L., Fischer, A., Smith, C. I. Hum Mol Genet 1995 4(1): 51-58 [PubMed abstract]. Structural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase disease. Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, Q., Vorechovsky, I., Webster, A. D., Notarangelo, L. D., Nilsson, L., Sowadski, J. M. Proc Natl Acad Sci U S A 1995 91(26): 12803-12807 [PubMed abstract]. Screening of genomic DNA to identify mutations in the gene for bruton's tyrosine kinase. Conley, M. E., Fitch-Hilgenberg, M. E., Cleveland, J. L., Parolini, O., Rohrer, J. Hum Mol Genet 1995 3(10): 1751-1756 [PubMed abstract]. Unique mutations of bruton's tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families. Zhu, Q., Zhang, M., Winkelstein, J., Chen, S. H., Ochs, H. D. Hum Mol Genet 1995 3(10): 1899-1900 [PubMed abstract]. Genomic organization of the btk gene and exon scanning for mutations in patients with X-linked agammaglobulinemia. Hagemann, T. L., Chen, Y., Rosen, F. S., Kwan, S. P. Hum Mol Genet 1995 3(10): 1743-1749 [PubMed abstract]. BTK:1994 An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency. Duriez, B., Duquesnoy, P., Dastot, F., Bougneres, P., Amselem, S., Goossens, M. FEBS Lett 1994 346(2-3): 165-170 [PubMed abstract]. Genomic organization and structure of bruton agammaglobulinemia tyrosine kinase: localization of mutations associated with varied clinical presentations and course in X chromosome-linked agammaglobulinemia. Ohta, Y., Haire, R. N., Litman, R. T., Fu, S. M., Nelson, R. P., Kratz, J., Kornfeld, S. J., de la Morena, M., Good, R. A., Litman, G. W. Proc Natl Acad Sci U S A 1994 91(19): 9062-9066 [PubMed abstract]. Mutation analysis of the bruton's tyrosine kinase gene in X-linked agammaglobulinemia: identification of a mutation which affects the same codon as is altered in immunodeficient xid mice. de Weers, M., Mensink, R. G., Kraakman, M. E., Schuurman, R. K., Hendriks, R. W. Hum Mol Genet 1994 3(1): 161-166 [PubMed abstract]. Mutation detection in the X-linked agammaglobulinemia gene, BTK, using single strand conformation polymorphism analysis. Bradley, L. A., Sweatman, A. K., Lovering, R. C., Jones, A. M., Morgan, G., Levinsky, R. J., Kinnon, C. Hum Mol Genet 1994 3(1): 79-83 [PubMed abstract]. Expression of bruton's agammaglobulinemia tyrosine kinase gene, BTK, is selectively down-regulated in T lymphocytes and plasma cells. Smith, C. I., Baskin, B., Humire-Greiff, P., Zhou, J. N., Olsson, P. G., Maniar, H. S., Kjellen, P., Lambris, J. D., Christensson, B., Hammarstrom, L. J Immunol 1994 152(2): 557-565 [PubMed abstract]. BTK:1993 The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases. Vetrie, D., Vorechovsky, I., Sideras, P., Holland, J., Davies, A., Flinter, F., Hammarstrom, L., Kinnon, C., Levinsky, R., Bobrow, M. Nature 1993 361(6409): 226-233 [PubMed abstract]. CDK4: Search PubMed latest citations for CDK4 mutations CDK4:1998 Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in france. the french familial melanoma study group. Soufir, N., Avril, M. F., Chompret, A., Demenais, F., Bombled, J., Spatz, A., Stoppa-Lyonnet, D., Benard, J., Bressac-de Paillerets, B. Hum Mol Genet 1998 7(2): 209-216 [PubMed abstract]. CDK4:1997 Complete scanning of the CDK4 gene by denaturing gradient gel electrophoresis: a novel missense mutation but low overall frequency of mutations in sporadic metastatic malignant melanoma. Guldberg, P., Kirkin, A. F., Gronbaek, K., thor Straten, P., Ahrenkiel, V., Zeuthen, J. Int J Cancer 1997 72(5): 780-783 [PubMed abstract]. CDK4:1996 Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma. Zuo, L., Weger, J., Yang, Q., Goldstein, A. M., Tucker, M. A., Walker, G. J., Hayward, N., Dracopoli, N. C. Nat Genet 1996 12(1): 97-99 [PubMed abstract]. CDK4:1995 A p16INK4a-insensitive CDK4 mutant targeted by cytolytic T lymphocytes in a human melanoma. 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. Science 1995 269(5228): 1281-1284 [PubMed abstract]. CHEK2: Search PubMed latest citations for CHEK2 mutations CHEK2:2003 Frequency of CHEK2*1100delC in new york breast cancer cases and controls. Offit, K., Pierce, H., Kirchhoff, T., Kolachana, P., Rapaport, B., Gregersen, P., Johnson, S., Yossepowitch, O., Huang, H., Satagopan, J., Robson, M., Scheuer, L., Nafa, K., Ellis, N. BMC Med Genet 2003 4(1): 1 [PubMed abstract]. Mutations in CHEK2 associated with prostate cancer risk. Dong, X., Wang, L., Taniguchi, K., Wang, X., Cunningham, J. M., McDonnell, S. K., Qian, C., Marks, A. F., Slager, S. L., Peterson, B. J., Smith, D. I., Cheville, J. C., Blute, M. L., Jacobsen, S. J., Schaid, D. J., Tindall, D. J., Thibodeau, S. N., Liu, W. Am J Hum Genet 2003 72(2): 270-280 [PubMed abstract]. Contribution of the CHEK2 1100delC variant to risk of multiple colorectal adenoma and carcinoma. Lipton, L., Fleischmann, C., Sieber, O. M., Thomas, H. J., Hodgson, S. V., Tomlinson, I. P., Houlston, R. S. Cancer Lett 2003 200(2): 149-152 [PubMed abstract]. CHEK2 1100delC and colorectal cancer. Kilpivaara, O., Laiho, P., Aaltonen, L. A., Nevanlinna, H. J Med Genet 2003 40(10): e110 [PubMed abstract]. CHEK2 variants associate with hereditary prostate cancer. Seppala, E. H., Ikonen, T., Mononen, N., Autio, V., Rokman, A., Matikainen, M. P., Tammela, T. L., Schleutker, J. Br J Cancer 2003 89(10): 1966-1970 [PubMed abstract]. CHEK2:2002 Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. 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., Bartels, C., Meijers, C., Schutte, M., McGuffog, L., Thompson, D., Easton, D., Sodha, N., Seal, S., Barfoot, R., Mangion, J., Chang-Claude, J., Eccles, D., Eeles, R., Evans, D. G., Houlston, R., Murday, V., Narod, S., Peretz, T., Peto, J., Phelan, C., Zhang, H. X., Szabo, C., Devilee, P., Goldgar, D., Futreal, P. A., Nathanson, K. L., Weber, B., Rahman, N., Stratton, M. R. Nat Genet 2002 31(1): 55-59 [PubMed abstract]. A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. 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. Am J Hum Genet 2002 71(2): 432-438 [PubMed abstract]. CHEK2:2000 Heterozygous germ line hCHK2 mutations in li-fraumeni syndrome. Bell, D. W., Varley, J. M., Szydlo, T. E., Kang, D. H., Wahrer, D. C., 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. Science 2000 286(5449): 2528-2531 [PubMed abstract]. FGFR1: Search PubMed latest citations for FGFR1 mutations FGFR1:2003 Loss-of-function mutations in FGFR1 cause autosomal dominant kallmann syndrome. Dode, C., Levilliers, J., Dupont, J. M., De Paepe, A., Le Du, N., Soussi-Yanicostas, N., Coimbra, R. S., Delmaghani, S., Compain-Nouaille, S., Baverel, F., Pecheux, C., Le Tessier, D., Cruaud, C., Delpech, M., Speleman, F., Vermeulen, S., Amalfitano, A., Bachelot, Y., Bouchard, P., Cabrol, S., Carel, J. C., Delemarre-van de Waal, H., Goulet-Salmon, B., Kottler, M. L., Richard, O., Sanchez-Franco, F., Saura, R., Young, J., Petit, C., Hardelin, J. P. Nat Genet 2003 33(4): 463-465 [PubMed abstract]. 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Four mutant alleles of the insulin receptor gene associated with genetic syndromes of extreme insulin resistance. Kadowaki, H., Takahashi, Y., Ando, A., Momomura, K., Kaburagi, Y., Quin, J. D., MacCuish, A. C., Koda, N., Fukushima, Y., Taylor, S. I., Akanuma, Y., Yazaki, Y., Kadowaki, T. Biochem Biophys Res Commun 1997 237(3): 516-520 [PubMed abstract]. INSR:1995 Two naturally occurring mutations in the kinase domain of insulin receptor accelerate degradation of the insulin receptor and impair the kinase activity. Imamura, T., Takata, Y., Sasaoka, T., Takada, Y., Morioka, H., Haruta, T., Sawa, T., Iwanishi, M., Hu, Y. G., Suzuki, Y. J Biol Chem 1995 269(49): 31019-31027 [PubMed abstract]. INSR:1994 Substitution of glutamine for arginine 1131. A newly identified mutation in the catalytic loop of the tyrosine kinase domain of the human insulin receptor. Kishimoto, M., Hashiramoto, M., Yonezawa, K., Shii, K., Kazumi, T., Kasuga, M. J Biol Chem 1994 269(15): 11349-11355 [PubMed abstract]. Functional properties of a heterozygous mutation (arg1174-->gln) in the tyrosine kinase domain of the insulin receptor from a type A insulin resistant patient. Moritz, W., Froesch, E. R., Boni-Schnetzler, M. FEBS Lett 1994 351(2): 276-280 [PubMed abstract]. Prevalence of mutations in the insulin receptor gene in subjects with features of the type A syndrome of insulin resistance. Moller, D. E., Cohen, O., Yamaguchi, Y., Assiz, R., Grigorescu, F., Eberle, A., Morrow, L. A., Moses, A. C., Flier, J. S. Diabetes 1994 43(2): 247-255 [PubMed abstract]. Molecular scanning of the insulin receptor gene in syndromes of insulin resistance. Krook, A., Kumar, S., Laing, I., Boulton, A. J., Wass, J. A., O'Rahilly, S. Diabetes 1994 43(3): 357-368 [PubMed abstract]. INSR:1993 [insulin receptor arg1131-->gln: a novel mutation in the catalytic loop of insulin receptor observed in insulin resistant diabetes] Kasuga, M., Kishimoto, M., Hashiramoto, M., Yonezawa, K., Kazumi, T., Hagino, H., Shii, K. Nippon Geka Gakkai Zasshi 1993 93(9): 968-971 [PubMed abstract]. 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. Cama, A., de la Luz Sierra, M., Quon, M. J., Ottini, L., Gorden, P., Taylor, S. I. J Biol Chem 1993 268(11): 8060-8069 [PubMed abstract]. Ala1048-->asp mutation in the kinase domain of insulin receptor causes defective kinase activity and insulin resistance. Haruta, T., Takata, Y., Iwanishi, M., Maegawa, H., Imamura, T., Egawa, K., Itazu, T., Kobayashi, M. Diabetes 1993 42(12): 1837-1844 [PubMed abstract]. A mutation (trp1193-->leu1193) in the tyrosine kinase domain of the insulin receptor associated with type A syndrome of insulin resistance. Iwanishi, M., Haruta, T., Takata, Y., Ishibashi, O., Sasaoka, T., Egawa, K., Imamura, T., Naitou, K., Itazu, T., Kobayashi, M. 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Detection of mutations in insulin-receptor gene in NIDDM patients by analysis of single-stranded conformation polymorphisms. O'Rahilly, S., Choi, W. H., Patel, P., Turner, R. C., Flier, J. S., Moller, D. E. Diabetes 1991 40(6): 777-782 [PubMed abstract]. INSR:1990 A naturally occurring mutation of insulin receptor alanine 1134 impairs tyrosine kinase function and is associated with dominantly inherited insulin resistance. Moller, D. E., Yokota, A., White, M. F., Pazianos, A. G., Flier, J. S. J Biol Chem 1990 265(25): 14979-14985 [PubMed abstract]. Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance. Kadowaki, T., Kadowaki, H., Rechler, M. M., Serrano-Rios, M., Roth, J., Gorden, P., Taylor, S. I. J Clin Invest 1990 86(1): 254-264 [PubMed abstract]. INSR:1989 Human diabetes associated with a mutation in the tyrosine kinase domain of the insulin receptor. 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Molecular modeling of the jak3 kinase domains and structural basis for severe combined immunodeficiency. Vihinen, M., Villa, A., Mella, P., Schumacher, R. F., Savoldi, G., O'Shea, J. J., Candotti, F., Notarangelo, L. D. Clin Immunol 2000 96(2): 108-118 [PubMed abstract]. Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism. Schumacher, R. F., Mella, P., Badolato, R., Fiorini, M., Savoldi, G., Giliani, S., Villa, A., Candotti, F., Tampalini, A., O'Shea, J. J., Notarangelo, L. D. Hum Genet 2000 106(1): 73-79 [PubMed abstract]. JAK3:1999 Prenatal diagnosis of JAK3 deficient SCID. Schumacher, R. F., Mella, P., Lalatta, F., Fiorini, M., Giliani, S., Villa, A., Candotti, F., Notarangelo, L. D. Prenat Diagn 1999 19(7): 653-656 [PubMed abstract]. 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KIT: Search PubMed latest citations for KIT mutations KIT:2003 One-step detection of c-kit point mutations using peptide nucleic acid-mediated polymerase chain reaction clamping and hybridization probes. Sotlar, K., Escribano, L., Landt, O., Mohrle, S., Herrero, S., Torrelo, A., Lass, U., Horny, H. P., Bultmann, B. Am J Pathol 2003 162(3): 737-746 [PubMed abstract]. Systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease: analysis of clinicopathologic features and activating c-kit mutations. Pullarkat, V. A., Bueso-Ramos, C., Lai, R., Kroft, S., Wilson, C. S., Pullarkat, S. T., Bu, X., Thein, M., Lee, M., Brynes, R. K. Am J Hematol 2003 73(1): 12-17 [PubMed abstract]. Flt-3 and c-kit mutation studies in a spectrum of chronic myeloid disorders including systemic mast cell disease. Pardanani, A., Reeder, T. L., Kimlinger, T. K., Baek, J. Y., Li, C. Y., Butterfield, J. H., Tefferi, A. Leuk Res 2003 27(8): 739-742 [PubMed abstract]. Alterations of the c-kit gene in testicular germ cell tumors. Sakuma, Y., Sakurai, S., Oguni, S., Hironaka, M., Saito, K. Cancer Sci 2003 94(6): 486-491 [PubMed abstract]. Gastrointestinal stromal tumors (GIST): a model for molecule-based diagnosis and treatment of solid tumors. Kitamura, Y., Hirota, S., Nishida, T. Cancer Sci 2003 94(4): 315-320 [PubMed abstract]. CHIC2 deletion, a surrogate for FIP1L1-PDGFRA fusion, occurs in systemic mastocytosis associated with eosinophilia and predicts response to imatinib mesylate therapy. Pardanani, A., Ketterling, R. P., Brockman, S. R., Flynn, H. C., Paternoster, S. F., Shearer, B. M., Reeder, T. L., Li, C. Y., Cross, N. C., Cools, J., Gilliland, D. G., Dewald, G. W., Tefferi, A. Blood 2003 102(9): 3093-3096 [PubMed abstract]. Eosinophils are derived from the neoplastic clone in patients with systemic mastocytosis and eosinophilia. Pardanani, A., Reeder, T., Li, C. Y., Tefferi, A. Leuk Res 2003 27(10): 883-885 [PubMed abstract]. Increase of bone marrow lymphocytes in systemic mastocytosis: reactive lymphocytosis or malignant lymphoma? immunohistochemical and molecular findings on routinely processed bone marrow biopsy specimens. Horny, H. P., Lange, K., Sotlar, K., Valent, P. J Clin Pathol 2003 56(8): 575-578 [PubMed abstract]. Deletion of trp-557 and lys-558 in the juxtamembrane domain of the c-kit protooncogene is associated with metastatic behavior of gastrointestinal stromal tumors. Wardelmann, E., Losen, I., Hans, V., Neidt, I., Speidel, N., Bierhoff, E., Heinicke, T., Pietsch, T., Buttner, R., Merkelbach-Bruse, S. Int J Cancer 2003 106(6): 887-895 [PubMed abstract]. Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumor. Heinrich, M. C., Corless, C. L., Demetri, G. D., Blanke, C. D., von Mehren, M., Joensuu, H., McGreevey, L. S., Chen, C. J., Van den Abbeele, A. D., Druker, B. J., Kiese, B., Eisenberg, B., Roberts, P. J., Singer, S., Fletcher, C. D., Silberman, S., Dimitrijevic, S., Fletcher, J. A. J Clin Oncol 2003 21(23): 4342-4349 [PubMed abstract]. KIT mutations are common in testicular seminomas. Kemmer, K., Corless, C. L., Fletcher, J. A., McGreevey, L., Haley, A., Griffith, D., Cummings, O. W., Wait, C., Town, A., Heinrich, M. C. Am J Pathol 2003 164(1): 305-313 [PubMed abstract]. KIT:2002 The complexity of KIT gene mutations and chromosome rearrangements and their clinical correlation in gastrointestinal stromal (pacemaker cell) tumors. Andersson, J., Sjogren, H., Meis-Kindblom, J. M., Stenman, G., Aman, P., Kindblom, L. G. Am J Pathol 2002 160(1): 15-22 [PubMed abstract]. Familial gastrointestinal stromal tumors associated with dysphagia and novel type germline mutation of KIT gene. Hirota, S., Nishida, T., Isozaki, K., Taniguchi, M., Nishikawa, K., Ohashi, A., Takabayashi, A., Obayashi, T., Okuno, T., Kinoshita, K., Chen, H., Shinomura, Y., Kitamura, Y. Gastroenterology 2002 122(5): 1493-1499 [PubMed abstract]. KIT:2001 KIT activation is a ubiquitous feature of gastrointestinal stromal tumors. Rubin, B. P., Singer, S., Tsao, C., Duensing, A., Lux, M. L., Ruiz, R., Hibbard, M. K., Chen, C. J., Xiao, S., Tuveson, D. A., Demetri, G. D., Fletcher, C. D., Fletcher, J. A. Cancer Res 2001 61(22): 8118-8121 [PubMed abstract]. KIT:2000 KIT extracellular and kinase domain mutations in gastrointestinal stromal tumors. Lux, M. L., Rubin, B. P., Biase, T. L., Chen, C. J., Maclure, T., Demetri, G., Xiao, S., Singer, S., Fletcher, C. D., Fletcher, J. A. Am J Pathol 2000 156(3): 791-795 [PubMed abstract]. KIT:1999 Activating c-kit gene mutations in human germ cell tumors. Tian, Q., Frierson, H. F., Krystal, G. W., Moskaluk, C. A. Am J Pathol 1999 154(6): 1643-1647 [PubMed abstract]. Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis. Longley, B. J., Metcalfe, D. D., Tharp, M., Wang, X., Tyrrell, L., Lu, S. Z., Heitjan, D., Ma, Y. Proc Natl Acad Sci U S A 1999 96(4): 1609-1614 [PubMed abstract]. KIT:1998 Piebaldism with deafness: molecular evidence for an expanded syndrome. Spritz, R. A., Beighton, P. Am J Med Genet 1998 75(1): 101-103 [PubMed abstract]. C-kit activating mutations and mast cell proliferation in human leukemia. Beghini, A., Larizza, L., Cairoli, R., Morra, E. Blood 1998 92(2): 701-702 [PubMed abstract]. A novel KIT gene missense mutation in a japanese family with piebaldism. Nomura, K., Hatayama, I., Narita, T., Kaneko, T., Shiraishi, M. J Invest Dermatol 1998 111(2): 337-338 [PubMed abstract]. KIT:1997 A new c-kit mutation in a case of aggressive mast cell disease. Pignon, J. M., Giraudier, S., Duquesnoy, P., Jouault, H., Imbert, M., Vainchenker, W., Vernant, J. P., Tulliez, M. Br J Haematol 1997 96(2): 374-376 [PubMed abstract]. KIT:1996 A 12-bp deletion (7818del12) in the c-kit protooncogene in a large italian kindred with piebaldism. Riva, P., Milani, N., Gandolfi, P., Larizza, L. Hum Mutat 1996 6(4): 343-345 [PubMed abstract]. KIT:1995 Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism. Ezoe, K., Holmes, S. A., Ho, L., Bennett, C. P., Bolognia, J. L., Brueton, L., Burn, J., Falabella, R., Gatto, E. M., Ishii, N. Am J Hum Genet 1995 56(1): 58-66 [PubMed abstract]. KIT:1993 Novel mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism. Spritz, R. A., Holmes, S. A., Itin, P., Kuster, W. J Invest Dermatol 1993 101(1): 22-25 [PubMed abstract]. 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. Furitsu, T., Tsujimura, T., Tono, T., Ikeda, H., Kitayama, H., Koshimizu, U., Sugahara, H., Butterfield, J. H., Ashman, L. K., Kanayama, Y. J Clin Invest 1993 92(4): 1736-1744 [PubMed abstract]. KIT:1992 Deletion of the KIT and PDGFRA genes in a patient with piebaldism. Spritz, R. A., Droetto, S., Fukushima, Y. Am J Med Genet 1992 44(4): 492-495 [PubMed abstract]. Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism. Spritz, R. A., Giebel, L. B., Holmes, S. A. Am J Hum Genet 1992 50(2): 261-269 [PubMed abstract]. KIT:1991 Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism. Giebel, L. B., Spritz, R. A. Proc Natl Acad Sci U S A 1991 88(19): 8696-8699 [PubMed abstract]. LTK: Search PubMed latest citations for LTK mutations LTK:2003 Gain-of-function polymorphism in mouse and human ltk: implications for the pathogenesis of systemic lupus erythematosus. Li, N., Nakamura, K., Jiang, Y., Tsurui, H., Matsuoka, S., Abe, M., Ohtsuji, M., Nishimura, H., Kato, K., Kawai, T., Atsumi, T., Koike, T., Shirai, T., Ueno, H., Hirose, S. Hum Mol Genet 2003 13(2): 171-179 [PubMed abstract]. MERTK: Search PubMed latest citations for MERTK mutations MERTK:2000 Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa. Gal, A., Li, Y., Thompson, D. A., Weir, J., Orth, U., Jacobson, S. G., Apfelstedt-Sylla, E., Vollrath, D. Nat Genet 2000 26(3): 270-271 [PubMed abstract]. MET: Search PubMed latest citations for MET mutations MET:2003 Prevalence and clinical impact of met Y1253D-activating point mutation in radiotherapy-treated squamous cell cancer of the oropharynx. Aebersold, D. M., Landt, O., Berthou, S., Gruber, G., Beer, K. T., Greiner, R. H., Zimmer, Y. Oncogene 2003 22(52): 8519-8523 [PubMed abstract]. MET:2000 Somatic mutations of the MET oncogene are selected during metastatic spread of human HNSC carcinomas. Di Renzo, M. F., Olivero, M., Martone, T., Maffe, A., Maggiora, P., Stefani, A. D., Valente, G., Giordano, S., Cortesina, G., Comoglio, P. M. Oncogene 2000 19(12): 1547-1555 [PubMed abstract]. MET:1999 Novel mutations of the MET proto-oncogene in papillary renal carcinomas. Schmidt, L., Junker, K., Nakaigawa, N., Kinjerski, T., Weirich, G., Miller, M., Lubensky, I., Neumann, H. P., Brauch, H., Decker, J., Vocke, C., Brown, J. A., Jenkins, R., Richard, S., Bergerheim, U., Gerrard, B., Dean, M., Linehan, W. M., Zbar, B. Oncogene 1999 18(14): 2343-2350 [PubMed abstract]. Novel mutation in the ATP-binding site of the MET oncogene tyrosine kinase in a HPRCC family. Olivero, M., Valente, G., Bardelli, A., Longati, P., Ferrero, N., Cracco, C., Terrone, C., Rocca-Rossetti, S., Comoglio, P. M., Di Renzo, M. F. Int J Cancer 1999 82(5): 640-643 [PubMed abstract]. Somatic mutations in the kinase domain of the met/hepatocyte growth factor receptor gene in childhood hepatocellular carcinomas. 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. Cancer Res 1999 59(2): 307-310 [PubMed abstract]. MET:1998 Two north american families with hereditary papillary renal carcinoma and identical novel mutations in the MET proto-oncogene. Schmidt, L., Junker, K., Weirich, G., Glenn, G., Choyke, P., Lubensky, I., Zhuang, Z., Jeffers, M., Vande Woude, G., Neumann, H., Walther, M., Linehan, W. M., Zbar, B. Cancer Res 1998 58(8): 1719-1722 [PubMed abstract]. MET:1997 Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas. 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., Bergerheim, U. R., Feltis, J. T., Casadevall, C., Zamarron, A., Bernues, M., Richard, S., Lips, C. J., Walther, M. M., Tsui, L. C., Geil, L., Orcutt, M. L., Stackhouse, T., Zbar, B. Nat Genet 1997 16(1): 68-73 [PubMed abstract]. NTRK1: Search PubMed latest citations for NTRK1 mutations NTRK1:2000 A novel NTRK1 mutation associated with congenital insensitivity to pain with anhidrosis. Greco, A., Villa, R., Tubino, B., Romano, L., Penso, D., Pierotti, M. A. Am J Hum Genet 2000 64(4): 1207-1210 [PubMed abstract]. Congenital insensitivity to pain with anhidrosis (CIPA) in israeli-bedouins: genetic heterogeneity, novel mutations in the TRKA/NGF receptor gene, clinical findings, and results of nerve conduction studies. Shatzky, S., Moses, S., Levy, J., Pinsk, V., Hershkovitz, E., Herzog, L., Shorer, Z., Luder, A., Parvari, R. Am J Med Genet 2000 92(5): 353-360 [PubMed abstract]. Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families. Miura, Y., Mardy, S., Awaya, Y., Nihei, K., Endo, F., Matsuda, I., Indo, Y. Hum Genet 2000 106(1): 116-124 [PubMed abstract]. NTRK1:1999 A novel point mutation affecting the tyrosine kinase domain of the TRKA gene in a family with congenital insensitivity to pain with anhidrosis. Yotsumoto, S., Setoyama, M., Hozumi, H., Mizoguchi, S., Fukumaru, S., Kobayashi, K., Saheki, T., Kanzaki, T. J Invest Dermatol 1999 112(5): 810-814 [PubMed abstract]. Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor. Mardy, S., Miura, Y., Endo, F., Matsuda, I., Sztriha, L., Frossard, P., Moosa, A., Ismail, E. A., Macaya, A., Andria, G., Toscano, E., Gibson, W., Graham, G. E., Indo, Y. Am J Hum Genet 1999 64(6): 1570-1579 [PubMed abstract]. NTRK1:1996 Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis. Indo, Y., Tsuruta, M., Hayashida, Y., Karim, M. A., Ohta, K., Kawano, T., Mitsubuchi, H., Tonoki, H., Awaya, Y., Matsuda, I. Nat Genet 1996 13(4): 485-488 [PubMed abstract]. PAK3: Search PubMed latest citations for PAK3 mutations PAK3:2003 X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3. Gedeon, A. K., Nelson, J., Gecz, J., Mulley, J. C. Am J Med Genet 2003 120A(4): 509-517 [PubMed abstract]. PAK3:1998 PAK3 mutation in nonsyndromic X-linked mental retardation. Allen, K. M., Gleeson, J. G., Bagrodia, S., Partington, M. W., MacMillan, J. C., Cerione, R. A., Mulley, J. C., Walsh, C. A. Nat Genet 1998 20(1): 25-30 [PubMed abstract]. PHKG2: Search PubMed latest citations for PHKG2 mutations PHKG2:2003 Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene. Burwinkel, B., Rootwelt, T., Kvittingen, E. A., Chakraborty, P. K., Kilimann, M. W. Pediatr Res 2003 54(6): 834-839 [PubMed abstract]. PHKG2:2000 Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R) Burwinkel, B., Tanner, M. S., Kilimann, M. W. J Med Genet 2000 37(5): 376-377 [PubMed abstract]. PHKG2:1998 Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis. Burwinkel, B., Shiomi, S., Al Zaben, A., Kilimann, M. W. Hum Mol Genet 1998 7(1): 149-154 [PubMed abstract]. PHKG2:1997 Autosomal recessive liver phosphorylase kinase deficiency caused by a novel splice-site mutation in the gene encoding the liver gamma subunit (PHKG2). van Beurden, E. A., de Graaf, M., Wendel, U., Gitzelmann, R., Berger, R., van den Berg, I. E. Biochem Biophys Res Commun 1997 236(3): 544-548 [PubMed abstract]. PHKG2:1996 Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans. Maichele, A. J., Burwinkel, B., Maire, I., Sovik, O., Kilimann, M. W. Nat Genet 1996 14(3): 337-340 [PubMed abstract]. RET: Search PubMed latest citations for RET mutations RET:2004 Pyrosequencing technology as a method for the diagnosis of multiple endocrine neoplasia type 2. Kruckeberg, K. E., Thibodeau, S. N. Clin Chem 2004 (): [PubMed abstract]. RET:2003 Association of germline mutations and polymorphisms of the RET proto-oncogene with idiopathic congenital central hypoventilation syndrome in 33 patients. Fitze, G., Paditz, E., Schlafke, M., Kuhlisch, E., Roesner, D., Schackert, H. K. J Med Genet 2003 40(2): E10 [PubMed abstract]. RET oncogene mutations in medullary thyroid carcinoma in mexican families. Gonzalez, B., Salcedo, M., Medrano, M. E., Mantilla, A., Quinonez, G., Benitez-Bribiesca, L., Rodriguez-Cuevas, S., Cabrera, L., de Leon, B., Altamirano, N., Tapia, J., Dawson, B. Arch Med Res 2003 34(1): 41-49 [PubMed abstract]. Mutation analysis of the RET gene in total intestinal aganglionosis by wave DNA fragment analysis system. Solari, V., Ennis, S., Yoneda, A., Wong, L., Messineo, A., Hollwarth, M. E., Green, A., Puri, P. J Pediatr Surg 2003 38(3): 497-501 [PubMed abstract]. Multiple endocrine neoplasia type 2: evaluation of the genotype-phenotype relationship. Yip, L., Cote, G. J., Shapiro, S. E., Ayers, G. D., Herzog, C. E., Sellin, R. V., Sherman, S. I., Gagel, R. F., Lee, J. E., Evans, D. B. Arch Surg 2003 138(4): 409-16; discussion 4416 [PubMed abstract]. Segregation of the V804L mutation and S836S polymorphism of exon 14 of the RET gene in an extended kindred with familial medullary thyroid cancer. Patocs, A., Valkusz, Z., Igaz, P., Balogh, K., Toth, M., Varga, I., Racz, K. Clin Genet 2003 63(3): 219-223 [PubMed abstract]. The newly detected mutations in the RET proto-oncogene in exon 16 as a cause of sporadic medullary thyroid carcinoma. Jindrichova, S., Kodet, R., Krskova, L., Vlcek, P., Bendlova, B. J Mol Med 2003 81(12): 819-823 [PubMed abstract]. RET:2002 Atypical MEN type 2B associated with two germline RET mutations on the same allele not involving codon 918. Menko, F. H., van der Luijt, R. B., de Valk, I. A., Toorians, A. W., Sepers, J. M., van Diest, P. J., Lips, C. J. J Clin Endocrinol Metab 2002 87(1): 393-397 [PubMed abstract]. RET:2001 Analysis of the RET, GDNF, EDN3, and EDNRB genes in patients with intestinal neuronal dysplasia and hirschsprung disease. Gath, R., Goessling, A., Keller, K. M., Koletzko, S., Coerdt, W., Muntefering, H., Wirth, S., Hofstra, R. M., Mulligan, L., Eng, C., von Deimling, A. Gut 2001 48(5): 671-675 [PubMed abstract]. Novel RET mutations in hirschsprung's disease patients from the diverse south african population. Julies, M. G., Moore, S. W., Kotze, M. J., du Plessis, L. Eur J Hum Genet 2001 9(6): 419-423 [PubMed abstract]. Three novel mutations in the RET proto-oncogene. Kalinin, V. N., Amosenko, F. A., Shabanov, M. A., Lubchenko, L. N., Hosch, S. B., Garkavtseva, R. F., Izbicki, J. R. J Mol Med 2001 79(10): 609-612 [PubMed abstract]. RET:2000 Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in hirschsprung disease. 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. Am J Hum Genet 2000 64(4): 1216-1221 [PubMed abstract]. Incidence of RET mutations in patients with hirschsprung's disease. Sancandi, M., Ceccherini, I., Costa, M., Fava, M., Chen, B., Wu, Y., Hofstra, R., Laurie, T., Griffths, M., Burge, D., Tam, P. K. J Pediatr Surg 2000 35(1): 139-42; discussion 1421-3 [PubMed abstract]. A RET double mutation in the germline of a kindred with FMTC. Bartsch, D. K., Hasse, C., Schug, C., Barth, P., Rothmund, M., Hoppner, W. Exp Clin Endocrinol Diabetes 2000 108(2): 128-132 [PubMed abstract]. Mutational analysis of RET/GDNF/NTN genes in children with total colonic aganglionosis with small bowel involvement. Inoue, K., Shimotake, T., Iwai, N. Am J Med Genet 2000 93(4): 278-284 [PubMed abstract]. RET:1999 A codon 891 exon 15 RET proto-oncogene mutation in familial medullary thyroid carcinoma: a detection strategy. Dang, G. T., Cote, G. J., Schultz, P. N., Khorana, S., Decker, R. A., Gagel, R. F. Mol Cell Probes 1999 13(1): 77-79 [PubMed abstract]. Two germline missense mutations at codons 804 and 806 of the RET proto-oncogene in the same allele in a patient with multiple endocrine neoplasia type 2B without codon 918 mutation. Miyauchi, A., Futami, H., Hai, N., Yokozawa, T., Kuma, K., Aoki, N., Kosugi, S., Sugano, K., Yamaguchi, K. Jpn J Cancer Res 1999 90(1): 1-5 [PubMed abstract]. A GTG to ATG novel point mutation at codon 804 in exon 14 of the RET proto-oncogene in two families affected by familial medullary thyroid carcinoma. Fattoruso, O., Quadro, L., Libroia, A., Verga, U., Lupoli, G., Cascone, E., Colantuoni, V. Hum Mutat 1999 Suppl 1(Suppl 1): S167-171 [PubMed abstract]. Germline and somatic mutations of the RET proto-oncogene in apparently sporadic medullary thyroid carcinomas. Scurini, C., Quadro, L., Fattoruso, O., Verga, U., Libroia, A., Lupoli, G., Cascone, E., Marzano, L., Paracchi, S., Busnardo, B., Girelli, M. E., Bellastella, A., Colantuoni, V. Mol Cell Endocrinol 1999 137(1): 51-57 [PubMed abstract]. RET:1998 A novel point mutation in the intracellular domain of the ret protooncogene in a family with medullary thyroid carcinoma. Hofstra, R. M., Fattoruso, O., Quadro, L., Wu, Y., Libroia, A., Verga, U., Colantuoni, V., Buys, C. H. J Clin Endocrinol Metab 1998 82(12): 4176-4178 [PubMed abstract]. A new hot spot for mutations in the ret protooncogene causing familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2A. Berndt, I., Reuter, M., Saller, B., Frank-Raue, K., Groth, P., Grussendorf, M., Raue, F., Ritter, M. M., Hoppner, W. J Clin Endocrinol Metab 1998 83(3): 770-774 [PubMed abstract]. Novel point mutations and allele loss at the RET locus in sporadic medullary thyroid carcinomas. Uchino, S., Noguchi, S., Adachi, M., Sato, M., Yamashita, H., Watanabe, S., Murakami, T., Toda, M., Murakami, N., Yamashita, H. Jpn J Cancer Res 1998 89(4): 411-418 [PubMed abstract]. Phenotypic variation in a family with mutations in two hirschsprung-related genes (RET and endothelin receptor B). Svensson, P. J., Anvret, M., Molander, M. L., Nordenskjold, A. Hum Genet 1998 103(2): 145-148 [PubMed abstract]. RET:1997 Germline mutation of the RET proto-oncogene in children with total intestinal aganglionosis. Shimotake, T., Iwai, N., Inoue, K., Kimura, T., Ichikawa, D., Abe, T., Inazawa, J. J Pediatr Surg 1997 32(3): 498-500 [PubMed abstract]. Germline mutation of RET codon 883 in two cases of de novo MEN 2B. Smith, D. P., Houghton, C., Ponder, B. A. Oncogene 1997 15(10): 1213-1217 [PubMed abstract]. Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation. Gimm, O., Marsh, D. J., Andrew, S. D., Frilling, A., Dahia, P. L., Mulligan, L. M., Zajac, J. D., Robinson, B. G., Eng, C. J Clin Endocrinol Metab 1997 82(11): 3902-3904 [PubMed abstract]. RET:1996 Two maternally derived missense mutations in the tyrosine kinase domain of the RET protooncogene in a patient with de novo MEN 2B. Kitamura, Y., Scavarda, N., Wells, S. A., Jackson, C. E., Goodfellow, P. J. Hum Mol Genet 1996 4(10): 1987-1988 [PubMed abstract]. Somatic mutations in the RET proto-oncogene in sporadic medullary thyroid carcinoma. Marsh, D. J., Learoyd, D. L., Andrew, S. D., Krishnan, L., Pojer, R., Richardson, A. L., Delbridge, L., Eng, C., Robinson, B. G. Clin Endocrinol (Oxf) 1996 44(3): 249-257 [PubMed abstract]. RET:1995 Diversity of RET proto-oncogene mutations in familial and sporadic hirschsprung disease. Attie, T., Pelet, A., Edery, P., Eng, C., Mulligan, L. M., Amiel, J., Boutrand, L., Beldjord, C., Nihoul-Fekete, C., Munnich, A. Hum Mol Genet 1995 4(8): 1381-1386 [PubMed abstract]. Heterogeneity and low detection rate of RET mutations in hirschsprung disease. Yin, L., Barone, V., Seri, M., Bolino, A., Bocciardi, R., Ceccherini, I., Pasini, B., Tocco, T., Lerone, M., Cywes, S. Eur J Hum Genet 1995 2(4): 272-280 [PubMed abstract]. RET mutations in exons 13 and 14 of FMTC patients. Bolino, A., Schuffenecker, I., Luo, Y., Seri, M., Silengo, M., Tocco, T., Chabrier, G., Houdent, C., Murat, A., Schlumberger, M. Oncogene 1995 10(12): 2415-2419 [PubMed abstract]. 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. 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. Oncogene 1995 10(3): 509-513 [PubMed abstract]. RET:1994 Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B. Carlson, K. M., Dou, S., Chi, D., Scavarda, N., Toshima, K., Jackson, C. E., Wells, S. A., Goodfellow, P. J., Donis-Keller, H. Proc Natl Acad Sci U S A 1994 91(4): 1579-1583 [PubMed abstract]. Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours. Eng, C., Smith, D. P., Mulligan, L. M., Nagai, M. A., Healey, C. S., Ponder, M. A., Gardner, E., Scheumann, G. F., Jackson, C. E., Tunnacliffe, A. Hum Mol Genet 1994 3(2): 237-241 [PubMed abstract]. Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in hirschsprung's disease. Romeo, G., Ronchetto, P., Luo, Y., Barone, V., Seri, M., Ceccherini, I., Pasini, B., Bocciardi, R., Lerone, M., Kaariainen, H. Nature 1994 367(6461): 377-378 [PubMed abstract]. RHOK: Search PubMed latest citations for RHOK mutations RHOK:1997 Defects in the rhodopsin kinase gene in the oguchi form of stationary night blindness. Yamamoto, S., Sippel, K. C., Berson, E. L., Dryja, T. P. Nat Genet 1997 15(2): 175-178 [PubMed abstract]. ROR2: Search PubMed latest citations for ROR2 mutations ROR2:2000 Recessive robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. 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., Jeffery, S. Nat Genet 2000 25(4): 419-422 [PubMed abstract]. Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive robinow syndrome. 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. Nat Genet 2000 25(4): 423-426 [PubMed abstract]. RPS6KA3: Search PubMed latest citations for RPS6KA3 mutations RPS6KA3:2001 Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with coffin-lowry syndrome. Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., Hanauer, A. Hum Mutat 2001 17(2): 103-116 [PubMed abstract]. RPS6KA3:1999 Novel mutations in rsk-2, the gene for coffin-lowry syndrome (CLS). Abidi, F., Jacquot, S., Lassiter, C., Trivier, E., Hanauer, A., Schwartz, C. E. Eur J Hum Genet 1999 7(1): 20-26 [PubMed abstract]. Unreported RSK2 missense mutation in two male sibs with an unusually mild form of coffin-lowry syndrome. Manouvrier-Hanu, S., Amiel, J., Jacquot, S., Merienne, K., Moerman, A., Coeslier, A., Labarriere, F., Vallee, L., Croquette, M. F., Hanauer, A. J Med Genet 1999 36(10): 775-778 [PubMed abstract]. Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: coffin-lowry syndrome. Merienne, K., Jacquot, S., Trivier, E., Pannetier, S., Rossi, A., Scott, C., Schinzel, A., Castellan, C., Kress, W., Hanauer, A. J Med Genet 1999 35(11): 890-894 [PubMed abstract]. Mutation analysis of the RSK2 gene in coffin-lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations. Jacquot, S., Merienne, K., De Cesare, D., Pannetier, S., Mandel, J. L., Sassone-Corsi, P., Hanauer, A. Am J Hum Genet 1999 63(6): 1631-1640 [PubMed abstract]. RPS6KA3:1997 Mutations in the kinase rsk-2 associated with coffin-lowry syndrome. Trivier, E., De Cesare, D., Jacquot, S., Pannetier, S., Zackai, E., Young, I., Mandel, J. L., Sassone-Corsi, P., Hanauer, A. Nature 1997 384(6609): 567-570 [PubMed abstract]. RPS6KA3: Id 0 is not valid for db PubMed id 0 is not valid for db pubMed Id 0 is not valid for db PubMed Id 0 is not valid for db PubMed (Id 0 is not valid for db PubMed ): [PubMed abstract]. STK11: Search PubMed latest citations for STK11 mutations STK11:2003 Mutations in the STK11 gene characterize minimal deviation adenocarcinoma of the uterine cervix. Kuragaki, C., Enomoto, T., Ueno, Y., Sun, H., Fujita, M., Nakashima, R., Ueda, Y., Wada, H., Murata, Y., Toki, T., Konishi, I., Fujii, S. Lab Invest 2003 83(1): 35-45 [PubMed abstract]. Genetic analysis of the LKB1/STK11 gene in hepatocellular carcinomas. Kim, C. J., Cho, Y. G., Park, J. Y., Kim, T. Y., Lee, J. H., Kim, H. S., Lee, J. W., Song, Y. H., Nam, S. W., Lee, S. H., Yoo, N. J., Lee, J. Y., Park, W. S. Eur J Cancer 2003 40(1): 136-141 [PubMed abstract]. STK11:2002 Two novel mutations and a new STK11/LKB1 gene isoform in peutz-jeghers patients. Resta, N., Stella, A., Susca, F. C., Di Giacomo, M., Forleo, G., Miccolis, I., Rossini, F. P., Genuardi, M., Piepoli, A., Grammatico, P., Guanti, G. Hum Mutat 2002 20(1): 78-79 [PubMed abstract]. Mutation analysis of the STK11/LKB1 gene and clinical characteristics of an australian series of peutz-jeghers syndrome patients. Scott, R. J., Crooks, R., Meldrum, C. J., Thomas, L., Smith, C. J., Mowat, D., McPhillips, M., Spigelman, A. D. Clin Genet 2002 62(4): 282-287 [PubMed abstract]. STK11:2000 Germline mutations of the STK11 gene in korean peutz-jeghers syndrome patients. Yoon, K. A., Ku, J. L., Choi, H. S., Heo, S. C., Jeong, S. Y., Park, Y. J., Kim, N. K., Kim, J. C., Jung, P. M., Park, J. G. Br J Cancer 2000 82(8): 1403-1406 [PubMed abstract]. STK11:1999 LKB1 somatic mutations in sporadic tumors. Avizienyte, E., Loukola, A., Roth, S., Hemminki, A., Tarkkanen, M., Salovaara, R., Arola, J., Butzow, R., Husgafvel-Pursiainen, K., Kokkola, A., Jarvinen, H., Aaltonen, L. A. Am J Pathol 1999 154(3): 677-681 [PubMed abstract]. Somatic mutations in the peutz-jeghers (LKB1/STKII) gene in sporadic malignant melanomas. Rowan, A., Bataille, V., MacKie, R., Healy, E., Bicknell, D., Bodmer, W., Tomlinson, I. J Invest Dermatol 1999 112(4): 509-511 [PubMed abstract]. Somatic mutation of the peutz-jeghers syndrome gene, LKB1/STK11, in malignant melanoma. Guldberg, P., thor Straten, P., Ahrenkiel, V., Seremet, T., Kirkin, A. F., Zeuthen, J. Oncogene 1999 18(9): 1777-1780 [PubMed abstract]. Peutz-jeghers syndrome: 78-year follow-up of the original family. Westerman, A. M., Entius, M. M., de Baar, E., Boor, P. P., Koole, R., van Velthuysen, M. L., Offerhaus, G. J., Lindhout, D., de Rooij, F. W., Wilson, J. H. Lancet 1999 353(9160): 1211-1215 [PubMed abstract]. Germline mutations of the LKB1 (STK11) gene in peutz-jeghers patients. Wang, Z. J., Churchman, M., Avizienyte, E., McKeown, C., Davies, S., Evans, D. G., Ferguson, A., Ellis, I., Xu, W. H., Yan, Z. Y., Aaltonen, L. A., Tomlinson, I. P. J Med Genet 1999 36(5): 365-368 [PubMed abstract]. Germline and somatic mutations of the STK11/LKB1 peutz-jeghers gene in pancreatic and biliary cancers. Su, G. H., Hruban, R. H., Bansal, R. K., Bova, G. S., Tang, D. J., Shekher, M. C., Westerman, A. M., Entius, M. M., Goggins, M., Yeo, C. J., Kern, S. E. Am J Pathol 1999 154(6): 1835-1840 [PubMed abstract]. Novel mutations in the LKB1/STK11 gene in dutch peutz-jeghers families. Westerman, A. M., Entius, M. M., Boor, P. P., Koole, R., de Baar, E., Offerhaus, G. J., Lubinski, J., Lindhout, D., Halley, D. J., de Rooij, F. W., Wilson, J. H. Hum Mutat 1999 13(6): 476-481 [PubMed abstract]. Loss of LKB1 kinase activity in peutz-jeghers syndrome, and evidence for allelic and locus heterogeneity. Mehenni, H., Gehrig, C., Nezu, J., Oku, A., Shimane, M., Rossier, C., Guex, N., Blouin, J. L., Scott, H. S., Antonarakis, S. E. Am J Hum Genet 1999 63(6): 1641-1650 [PubMed abstract]. Mutations and impaired function of LKB1 in familial and non-familial peutz-jeghers syndrome and a sporadic testicular cancer. Ylikorkala, A., Avizienyte, E., Tomlinson, I. P., Tiainen, M., Roth, S., Loukola, A., Hemminki, A., Johansson, M., Sistonen, P., Markie, D., Neale, K., Phillips, R., Zauber, P., Twama, T., Sampson, J., Jarvinen, H., Makela, T. P., Aaltonen, L. A. Hum Mol Genet 1999 8(1): 45-51 [PubMed abstract]. Peutz-jeghers syndrome: molecular analysis of a three-generation kindred with a novel defect in the serine threonine kinase gene STK11. Trojan, J., Brieger, A., Raedle, J., Roth, W. K., Zeuzem, S. Am J Gastroenterol 1999 94(1): 257-261 [PubMed abstract]. STK11:1998 Peutz-jeghers syndrome is caused by mutations in a novel serine threonine kinase. Jenne, D. E., Reimann, H., Nezu, J., Friedel, W., Loff, S., Jeschke, R., Muller, O., Back, W., Zimmer, M. Nat Genet 1998 18(1): 38-43 [PubMed abstract]. A serine/threonine kinase gene defective in peutz-jeghers syndrome. Hemminki, A., Markie, D., Tomlinson, I., Avizienyte, E., Roth, S., Loukola, A., Bignell, G., Warren, W., Aminoff, M., Hoglund, P., Jarvinen, H., Kristo, P., Pelin, K., Ridanpaa, M., Salovaara, R., Toro, T., Bodmer, W., Olschwang, S., Olsen, A. S., Stratton, M. R., de la Chapelle, A., Aaltonen, L. A. Nature 1998 391(6663): 184-187 [PubMed abstract]. Somatic mutations in LKB1 are rare in sporadic colorectal and testicular tumors. Avizienyte, E., Roth, S., Loukola, A., Hemminki, A., Lothe, R. A., Stenwig, A. E., Fossa, S. D., Salovaara, R., Aaltonen, L. A. Cancer Res 1998 58(10): 2087-2090 [PubMed abstract]. Frequent somatic mutations in serine/threonine kinase 11/peutz-jeghers syndrome gene in left-sided colon cancer. Dong, S. M., Kim, K. M., Kim, S. Y., Shin, M. S., Na, E. Y., Lee, S. H., Park, W. S., Yoo, N. J., Jang, J. J., Yoon, C. Y., Kim, J. W., Kim, S. Y., Yang, Y. M., Kim, S. H., Kim, C. S., Lee, J. Y. Cancer Res 1998 58(17): 3787-3790 [PubMed abstract]. Nine novel germline mutations of STK11 in ten families with peutz-jeghers syndrome. Nakagawa, H., Koyama, K., Miyoshi, Y., Ando, H., Baba, S., Watatani, M., Yasutomi, M., Matsuura, N., Monden, M., Nakamura, Y. Hum Genet 1998 103(2): 168-172 [PubMed abstract]. TEK: Search PubMed latest citations for TEK mutations TEK:1999 Allelic and locus heterogeneity in inherited venous malformations. 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. Hum Mol Genet 1999 8(7): 1279-1289 [PubMed abstract]. TEK:1997 Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2. Vikkula, M., Boon, L. M., Carraway, K. L., 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. Cell 1997 87(7): 1181-1190 [PubMed abstract]. TGFBR2: Search PubMed latest citations for TGFBR2 mutations TGFBR2:1998 Transforming growth factor beta type II receptor (TGF beta RII) mutation in gastric lymphoma without mutator phenotype. Yasumi, K., Guo, R. J., Hanai, H., Arai, H., Kaneko, E., Konno, H., Takenoshita, S., Hagiwara, K., Sugimura, H. Pathol Int 1998 48(2): 134-137 [PubMed abstract]. HNPCC associated with germline mutation in the TGF-beta type II receptor gene. Lu, S. L., Kawabata, M., Imamura, T., Akiyama, Y., Nomizu, T., Miyazono, K., Yuasa, Y. Nat Genet 1998 19(1): 17-18 [PubMed abstract]. TGFBR2:1997 Mutation and downregulation of the transforming growth factor beta type II receptor gene in primary squamous cell carcinomas of the head and neck. Wang, D., Song, H., Evans, J. A., Lang, J. C., Schuller, D. E., Weghorst, C. M. Carcinogenesis 1997 18(11): 2285-2290 [PubMed abstract]. TGFBR2:1996 A dominant inhibitory mutant of the type II transforming growth factor beta receptor in the malignant progression of a cutaneous T-cell lymphoma. Knaus, P. I., Lindemann, D., DeCoteau, J. F., Perlman, R., Yankelev, H., Hille, M., Kadin, M. E., Lodish, H. F. Mol Cell Biol 1996 16(7): 3480-3489 [PubMed abstract]. TGFBR2:1995 Missense mutations of the transforming growth factor beta type II receptor in human head and neck squamous carcinoma cells. Garrigue-Antar, L., Munoz-Antonia, T., Antonia, S. J., Gesmonde, J., Vellucci, V. F., Reiss, M. Cancer Res 1995 55(18): 3982-3987 [PubMed abstract]. ZAP70: Search PubMed latest citations for ZAP70 mutations ZAP70:2001 Distinct T cell developmental consequences in humans and mice expressing identical mutations in the DLAARN motif of ZAP-70. Elder, M. E., Skoda-Smith, S., Kadlecek, T. A., Wang, F., Wu, J., Weiss, A. J Immunol 2001 166(1): 656-661 [PubMed abstract]. ZAP70:2000 Temperature-sensitive ZAP70 mutants degrading through a proteasome-independent pathway. restoration of a kinase domain mutant by cdc37. Matsuda, S., Suzuki-Fujimoto, T., Minowa, A., Ueno, H., Katamura, K., Koyasu, S. J Biol Chem 2000 274(49): 34515-34518 [PubMed abstract]. Alternative antigen receptor (TCR) signaling in T cells derived from ZAP-70-deficient patients expressing high levels of syk. Noraz, N., Schwarz, K., Steinberg, M., Dardalhon, V., Rebouissou, C., Hipskind, R., Friedrich, W., Yssel, H., Bacon, K., Taylor, N. J Biol Chem 2000 275(21): 15832-15838 [PubMed abstract]. Differential requirement of ZAP-70 for CD2-mediated activation pathways of mature human T cells. Meinl, E., Lengenfelder, D., Blank, N., Pirzer, R., Barata, L., Hivroz, C. J Immunol 2000 165(7): 3578-3583 [PubMed abstract]. ZAP70:1997 Phenotypic features of selective T cell deficiency characterized by absence of CD8+ T lymphocytes and undetectable mRNA for ZAP-70 kinase. Mazer, B., Harbeck, R. J., Franklin, R., Schwinzer, R., Kubo, R., Hayward, A., Gelfand, E. W. Clin Immunol Immunopathol 1997 84(2): 129-138 [PubMed abstract]. ZAP70:1996 Severe combined immunodeficiency due to a defect in the tyrosine kinase ZAP-70. Elder, M. E. Pediatr Res 1996 39(5): 743-748 [PubMed abstract]. ZAP70:1995 Severe combined immunodeficiency with absence of peripheral blood CD8+ T cells due to ZAP-70 deficiency. Elder, M. E., Hope, T. J., Parslow, T. G., Umetsu, D. T., Wara, D. W., Cowan, M. J. Cell Immunol 1995 165(1): 110-117 [PubMed abstract]. ZAP70:1994 Defective T cell receptor signaling and CD8+ thymic selection in humans lacking zap-70 kinase. Arpaia, E., Shahar, M., Dadi, H., Cohen, A., Roifman, C. M. Cell 1994 76(5): 947-958 [PubMed abstract]. Human severe combined immunodeficiency due to a defect in ZAP-70, a T cell tyrosine kinase. Elder, M. E., Lin, D., Clever, J., Chan, A. C., Hope, T. J., Weiss, A., Parslow, T. G. Science 1994 264(5165): 1596-1599 [PubMed abstract]. ZAP-70 deficiency in an autosomal recessive form of severe combined immunodeficiency. Chan, A. C., Kadlecek, T. A., Elder, M. E., Filipovich, A. H., Kuo, W. L., Iwashima, M., Parslow, T. G., Weiss, A. Science 1994 264(5165): 1599-1601 [PubMed abstract].