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Novel Germline Mutation of KIT Associated With Familial Gastrointestinal Stromal Tumors and Mastocytosis

Hartmann, Karin, Wardelmann, Eva, Ma, Yongsheng, Merkelbach–Bruse, Sabine, Preussner, Liane M., Woolery, Carla, Baldus, Stephan E., Heinicke, Thomas, Thiele, Juergen, Buettner, Reinhard, Longley, B. Jack·2005·Gastroenterology
DOI 10.1053/j.gastro.2005.06.060
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Research works printed but not linked: 26

  1. Kitamura, 2003, Gastrointestinal stromal tumors (GIST), Cancer Sci, 94, 315, 10.1111/j.1349-7006.2003.tb01439.x · DOI
  2. Duensing, 2004, Biology of gastrointestinal stromal tumors, Cancer Invest, 22, 106, 10.1081/CNV-120027585 · DOI
  3. Longley, 1996, Somatic c-KIT activating mutation in urticaria pigmentosa and aggressive mastocytosis, Nat Genet, 12, 312, 10.1038/ng0396-312 · DOI
  4. Longley, 1999, Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis, Proc Natl Acad Sci U S A, 96, 1609, 10.1073/pnas.96.4.1609 · DOI
  5. Marshall, 1990, Achalasia due to diffuse esophageal leiomyomatosis and inherited as an autosomal dominant disorder. Report of a family study, Gastroenterology, 98, 1358, 10.1016/0016-5085(90)90357-7 · DOI
  6. Nishida, 1998, Familial gastrointestinal stromal tumours with germline mutation of the KIT gene, Nat Genet, 19, 323, 10.1038/1209 · DOI
  7. Rosbotham, 1999, Lack of c-kit mutation in familial urticaria pigmentosa, Br J Dermatol, 140, 849, 10.1046/j.1365-2133.1999.02814.x · DOI
  8. Isozaki, 2000, Germline-activating mutation in the kinase domain of KIT gene in familial gastrointestinal stromal tumors, Am J Pathol, 157, 1581, 10.1016/S0002-9440(10)64795-5 · DOI
  9. Hirota, 2000, Cause of familial and multiple gastrointestinal autonomic nerve tumors with hyperplasia of interstitial cells of Cajal is germline mutation of the c-kit gene, Am J Surg Pathol, 24, 326, 10.1097/00000478-200002000-00045 · DOI
  10. Maeyama, 2001, Familial gastrointestinal stromal tumor with hyperpigmentation, Gastroenterology, 120, 210, 10.1053/gast.2001.20880 · DOI
  11. Beghini, 2001, Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestional stromal tumors and urticaria pigmentosa, Cancer, 92, 657, 10.1002/1097-0142(20010801)92:3<657::AID-CNCR1367>3.0.CO;2-D · DOI
  12. Hirota, 2002, Familial gastrointestinal stromal tumors associated with dysphagia and novel type germline mutation of KIT gene, Gastroenterology, 122, 1493, 10.1053/gast.2002.33024 · DOI
  13. Chompret, 2004, PDGFRA germline mutation in a family with multiple cases of gastrointestinal stromal tumor, Gastroenterology, 126, 318, 10.1053/j.gastro.2003.10.079 · DOI
  14. Tang, 2004, A germline mutation in KIT in familial diffuse cutaneous mastocytosis, J Med Genet, 41, e88, 10.1136/jmg.2003.015156 · DOI · Paper page
  15. Hirota, 1998, Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors, Science, 279, 577, 10.1126/science.279.5350.577 · DOI
  16. Ma, 1999, Inhibition of spontaneous receptor phosphorylation by residues in a putative alpha-helix in the KIT intracellular juxtamembrane region, J Biol Chem, 274, 13399, 10.1074/jbc.274.19.13399 · DOI
  17. Longley, 2001, Classes of c-KIT activating mutations, Leuk Res, 25, 571, 10.1016/S0145-2126(01)00028-5 · DOI
  18. Nagata, 1995, 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 Natl Acad Sci U S A, 92, 10560, 10.1073/pnas.92.23.10560 · DOI
  19. Joensuu, 2001, Effect of the tyrosine kinase inhibitor STI571 in a patient with a metastatic gastrointestinal stromal tumor, N Engl J Med, 344, 1052, 10.1056/NEJM200104053441404 · DOI
  20. Ma, 2002, 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, 99, 1741, 10.1182/blood.V99.5.1741 · DOI
  21. Pardanani, 2003, CHIC2 deletion, a surrogate for FIP1L1-PDGFRA fusion, occurs in systemic mastocytosis associated with eosinophilia and predicts response to imatinib mesylate therapy, Blood, 102, 3093, 10.1182/blood-2003-05-1627 · DOI
  22. Akin, 2004, A novel form of mastocytosis associated with a transmembrane c-kit mutation and response to imatinib, Blood, 103, 3222, 10.1182/blood-2003-11-3816 · DOI · Paper page
  23. Heinrich, 2003, PDGFRA activating mutations in gastrointestinal stromal tumors, Science, 299, 708, 10.1126/science.1079666 · DOI
  24. Hirota, 2003, Gain-of-function mutations of platelet-derived growth factor receptor alpha gene in gastrointestinal stromal tumors, Gastroenterology, 125, 660, 10.1016/S0016-5085(03)01046-1 · DOI
  25. Hofbauer, 1974, Family with mast cell erythroderma, Hautarzt, 25, 246
  26. Gari, 1999, C-kit proto-oncogene exon 8 in-frame deletion plus insertion mutations in acute myeloid leukaemia, Br J Haematol, 105, 894, 10.1046/j.1365-2141.1999.01449.x · DOI

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Metadata

Authors
Hartmann, K., Wardelmann, E., Ma, Y., Merkelbach–Bruse, S., Preussner, L. M., Woolery, C., Baldus, S. E., Heinicke, T., Thiele, J., Buettner, R., & Longley, B. J.
Venue
Gastroenterology
Publisher
Elsevier BV
Published
2005-09
Volume
129
Issue
3
Pages
1042-1046
ISSN
0016-5085
DOI
10.1053/j.gastro.2005.06.060
Cited by
157
References
1
Language
en
Licence
www.elsevier.com/tdm/userlicense/1.0/ (tdm)

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CoChat. (2026). Citation check: Novel Germline Mutation of KIT Associated With Familial Gastrointestinal Stromal Tumors and Mastocytosis. https://app.cochat.ai/papers/10.1053/j.gastro.2005.06.060
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Hartmann, K., Wardelmann, E., Ma, Y., Merkelbach–Bruse, S., Preussner, L. M., Woolery, C., Baldus, S. E., Heinicke, T., Thiele, J., Buettner, R., & Longley, B. J. (2005). Novel Germline Mutation of KIT Associated With Familial Gastrointestinal Stromal Tumors and Mastocytosis. Gastroenterology. https://doi.org/10.1053/j.gastro.2005.06.060