FAMILIAL GASTROINTESTINAL STROMAL TUMOURS WITH GERMLINE MUTATION OF THE KIT GENE

作者: Toshirou Nishida , Seiichi Hirota , Masahiko Taniguchi , Koji Hashimoto , Koji Isozaki

DOI: 10.1038/1209

关键词:

摘要: … of the KIT gene. a, Family pedigree; filled symbols indicate family members with either intestinal obstruction or the KIT … c, Serial section of (b), the KIT protein expression demonstrated by …

参考文章(15)
Elizabeth S. Russell, Hereditary Anemias of the Mouse: A Review for Geneticists Advances in Genetics. ,vol. 20, pp. 357- 459 ,(1979) , 10.1016/S0065-2660(08)60549-0
T Tsujimura, T Furitsu, M Morimoto, K Isozaki, S Nomura, Y Matsuzawa, Y Kitamura, Y Kanakura, Ligand-independent activation of c-kit receptor tyrosine kinase in a murine mastocytoma cell line P-815 generated by a point mutation Blood. ,vol. 83, pp. 2619- 2626 ,(1994) , 10.1182/BLOOD.V83.9.2619.2619
Y Kitamura, S Go, Decreased production of mast cells in S1/S1d anemic mice Blood. ,vol. 53, pp. 492- 497 ,(1979) , 10.1182/BLOOD.V53.3.492.492
John B. Marshall, Alberto A. Diaz-Arias, Gary S. Bochna, Kenneth A. Vogele, Achalasia Due to Diffuse Esophageal Leiomyomatosis and Inherited as an Autosomal Dominant Disorder: Report of a Family Study Gastroenterology. ,vol. 98, pp. 1358- 1365 ,(1990) , 10.1016/0016-5085(90)90357-7
Tadashi Hongyo, Gregory S. Buzard, Richard J. Calvert, Christopher M. Weghorst, ‘Cold SSCP’: a simple, rapid and non-radioactive method for optimized single-strand conformation polymorphism analyses Nucleic Acids Research. ,vol. 21, pp. 3637- 3642 ,(1993) , 10.1093/NAR/21.16.3637
H. Nagata, A. S. Worobec, C. K. Oh, B. A. Chowdhury, S. Tannenbaum, Y. Suzuki, D. D. Metcalfe, 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 Proceedings of the National Academy of Sciences of the United States of America. ,vol. 92, pp. 10560- 10564 ,(1995) , 10.1073/PNAS.92.23.10560
M. el-Omar, J. Davies, S. Gupta, H. Ross, R. Thompson, Leiomyosarcoma in leiomyomatosis of the small intestine. Postgraduate Medical Journal. ,vol. 70, pp. 661- 664 ,(1994) , 10.1136/PGMJ.70.827.661
B. Jack Longley, Lynda Tyrrell, Shu-Zhuang Lu, Yong-Sheng Ma, Keith Langley, Tie-gang Ding, Thomas Duffy, Peter Jacobs, Laura H. Tang, Irvin Modlin, Somatic c- KIT activating mutation in urticaria pigmentosa and aggressive mastocytosis: establishment of clonality in a human mast cell neoplasm Nature Genetics. ,vol. 12, pp. 312- 314 ,(1996) , 10.1038/NG0396-312
Andreas Stein, Didier Raoult, A simple method for amplification of DNA from paraffin-embedded tissues. Nucleic Acids Research. ,vol. 20, pp. 5237- 5238 ,(1992) , 10.1093/NAR/20.19.5237