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  • 1
    Kitamura Y, Hirota S, Nishida T. A loss-of-function mutation of c-kit results in depletion of mast cells and interstitial cells of Cajal, while its gain-of-function mutation results in their oncogenesis. Mutat Res 2001; 477: 16571.
  • 2
    Ashman LK. The biology of stem cell factor and its receptor C-kit. Int J Bio-chem CellBiol 1999; 31: 103751.
  • 3
    Rossi P, Sette C, Dolci S, Geremia R. Role of c-kit in mammalian spermato-genesis. J Endocrinol Invest 2000; 23: 60915.
  • 4
    Furitsu T, Tsujimura T, Tono T, Ikeda H, Kitayama H, Koshimizu U, Sugahara H, Butterfield JH, Ashman LK, 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 1993; 92: 173644.
  • 5
    Longley BJ Jr, Metcalfe DD, Tharp M, Wang X, Tyrrell L, Lu SZ, Heitjan D, Ma Y. Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis. Proc Natl Acad Sci USA 1999; 96: 160914.
  • 6
    Hirota S, Isozaki K, Moriyama Y, Hashimoto K, Nishida T, Ishiguro S, Kawano K, Hanada M, Kurata A, Takeda M, Tunio GM, Matsuzawa Y, Kanakura Y, Shinomura Y, Kitamura Y. Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. Science 1998; 279: 57780.
  • 7
    Lux ML, Rubin BP, Biase TL, Chen CJ, Maclure T, Demetri G, Xiao S, Singer S, Fletcher CD, Fletcher JA. KIT extracellular and kinase domain mutations in gastrointestinal stromal tumors. Am J Pathol 2000; 156: 7915.
  • 8
    Isozaki K, Terris B, Belghiti J, Schiffmann S, Hirota S, Vanderwinden JM. Germline-activating mutation in the kinase domain of KIT gene in familial gastrointestinal stromal tumors. Am. J Pathol 2000; 157: 15815.
  • 9
    Hirota S, Nishida T, Isozaki K, Taniguchi M, Nakamura J, Okazaki T, Kitamura Y. Gain-of-function mutation at the extracellular domain of KIT in gastrointestinal stromal tumours. J Pathol 2001; 193: 50510.
  • 10
    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. Familial gastrointestinal stromal tumors associated with dys-phagia and novel type germline mutation of KIT gene. Gastmenterology 2002; 122: 14939.
  • 11
    Rubin BP, Singer S, Tsao C, Duensing A, Lux ML, Ruiz R, Hibbard MK, Chen CJ, Xiao S, Tuveson DA, Dementi GD, Fletcher CD, Fletcher JA. KIT activation is a ubiquitous feature of gastrointestinal stromal tumors. Cancer Res 2001; 61: 811821.
  • 12
    Tian Q, Frierson HF Jr, Krystal GW, Moskaluk CA. Activating c-kit gene mutations in human germ cell tumors. Am J Pahtol 1999; 154: 16437.
  • 13
    Sekido Y, Obata Y, Ueda R, Hida T, Suyama M, Shimokata K, Ariyoshi Y, Takahashi T. Preferential expression of c-kit protooncogene transcripts in small cell lung cancer. Cancer Res 1991; 51: 24169.
  • 14
    Landuzzi L, De Giovanni C, Nicoletti G, Rossi I, Ricci C, Astolfi A, Scopece L, Scotland K, Serra M, Bagnara GP, Nanni P, Lollini PL. The met-astatic ability of Ewing's sarcoma cells is modulated by stem cell factor and by its receptor c-kit. Am. J Pathol 2000; 157: 212331.
  • 15
    Sakurai S, Oguni S, Hironaka M, Fukayama M, Morinaga S, Saito K. Mutations in c-kit gene exons 9 and 13 in gastrointestinal stromal tumors among Japanese. Jpn J Cancer Res 2001; 92: 4948.
  • 16
    Sakurai S, Fukasawa T, Chong JM, Tanaka A, Fukayama M. c-kit gene abnormalities in gastrointestinal stromal tumors (tumors of interstitial cells of Cajal). Jpn J Cancer Res 1999; 90: 1328.
  • 17
    Demetri GD, von Mehren M, Blanke CD, Van den Abbeele AD, Eisenberg B, Roberts PJ, Heinrich MC, Tuveson DA, Singer S, Janicek M, Fletcher JA, Silverman SG, Silverman SL, Capdeville R, Kiese B, Peng B, Dimitrijevic S, Druker BJ, Corless C, Fletcher CD, Joensuu H. Efficacy and safety of imatinib mesylate in advanced gastrointestinal stromal tumors. N Engl J Med 2002; 347: 47280.
  • 18
    Frost MJ, Ferrao FT, Hughes TP, Ashman LK. Juxtamembrane mutant V560GKH is more sensitive to Imatinib (STI571) compared with wild-type c-kit whereas the kinase domain mutant D816VKH is resistant. Mol Cancer Ther 2002; 1: 111524.
  • 19
    Ma Y, Zeng S, Metcalfe DD, Akin C, Dimitrijevic S, Butterfield JH, McMahon G, Longley BJ. The c-KIT mutation causing human mastocytosis is resistant to STI571 and other KIT kinase inhibitors; kinases with enzymatic site mutations show different inhibitor sensitivity profiles than wild-type kinases and those with regulatory-type mutations. Blood 2002; 99: 17414.
  • 20
    Izquierdo MA, Van der Valk P, Van Ark-Otte J, Rubio G, Germa-Lluch JR, Ueda R, Scheper RJ, Takahashi T, Gianccone G. Differential expression of the c-kit proto-oncogene in germ cell tumours. J Pathol 1995; 177: 2538.
  • 21
    Bokemeyer C, Kuczyk MA, Dunn T, Serth J, Hartmann K, Jonasson J, Pietsch T, Jonas U, Schmoll HJ. Expression of stem-cell factor and its receptor c-kit protein in normal testicular tissue and malignant germ-cell tumours. J Cancer Res Clin Oncol 1996; 122: 3016.
  • 22
    Strohmeyer T, Reese D, Press M, Ackermann R, Hartmann M, Slamon D. Expression of the c-kit proto-oncogene and its ligand stem cell factor (SCF) in normal and malignant human testicular tissue. J Urol 1995; 153: 5115.
  • 23
    Przygodzki RM, Hubbs AE, Zhao FQ, O'Leary TJ. Primary mediastinal seminomas: evidence of single and multiple KIT mutations. Lab Invest 2002; 82: 136975.
  • 24
    Moriyama Y, Tsujimura T, Hashimoto K, Morimoto M, Kitayama H, Matsuzawa Y, Kitamura Y, Kanakura Y. Role of aspartic acid 814 in the function and expression of c-kit receptor tyrosine kinase. J Biol Chem 1996; 271: 334750.
  • 25
    Hirota S, Okazaki T, Kitamura Y, O'Brien P, Kapusta L, Dardick I. Cause of familial and multiple gastrointestinal autonomic nerve tumors with hyperpla-sia of interstitial cells of Cajal is germline mutation of the c-kit gene. Am J Surg Pathol 2000; 24: 3267.
  • 26
    Kinoshita K, Isozaki K, Hirota S, Nishida T, Chen H, Nakahara M, Nagasawa Y, Ohashi A, Shinomura Y, Kitamura Y, Matsuzawa Y. c-kit gene mutation at exon 17 or 13 is very rare in sporadic gastrointestinal stromal tumors. J Gastroenterol Hepatol 2003; 18: 14751.
  • 27
    Reith AD, Ellis C, Lyman SD, Anderson DM, Williams DE, Bernstein A, Pawson T. Signal transduction by normal isoforms and W mutant variants of the Kit receptor tyrosine kinase. EMBO J 1991; 10: 24519.
  • 28
    Caruana G, Cambareri AC, Ashman LK. Isoforms of c-KIT differ in activation of signalling pathways and transformation of NIH3T3 fibroblasts. Oncogene 1999; 18: 557381.
  • 29
    Vuky J, Tickoo SK, Sheinfeld J, Bacik J, Amsterdam A, Mazumdar M, Reuter V, Bajorin DF, Bosl GJ, Motzer RJ. Salvage chemotherapy for patients with advanced pure seminoma. J Clin Oncol 2002; 20: 297301.
  • 30
    Liao AT, Chien MB, Shenoy N, Mendel DB, McMahon G, Cherrington JM, London CA. Inhibition of constitutively active forms of mutant kit by multi-targeted indolinone tyrosine kinase inhibitors. Blood 2002; 100: 58593.