{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T20:33:25Z","timestamp":1791232405499,"version":"4.1.0"},"reference-count":25,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2006,4,1]],"date-time":"2006-04-01T00:00:00Z","timestamp":1143849600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Leukemia Research"],"published-print":{"date-parts":[[2006,4]]},"DOI":"10.1016\/j.leukres.2005.08.015","type":"journal-article","created":{"date-parts":[[2005,9,23]],"date-time":"2005-09-23T09:48:14Z","timestamp":1127468894000},"page":"373-378","source":"Crossref","is-referenced-by-count":129,"title":["A novel K509I mutation of KIT identified in familial mastocytosis\u2014in vitro and in vivo responsiveness to imatinib therapy"],"prefix":"10.1016","volume":"30","author":[{"given":"Ling Yan","family":"Zhang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew L.","family":"Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beate","family":"Schultheis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jude","family":"Fitzgibbon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T. Andrew","family":"Lister","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junia V.","family":"Melo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas C.P.","family":"Cross","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jamie D.","family":"Cavenagh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.leukres.2005.08.015_bib1","doi-asserted-by":"crossref","first-page":"3314","DOI":"10.1038\/sj.onc.1205317","article-title":"Tyrosine kinase oncogenes in normal hematopoiesis and hematological disease","volume":"21","author":"Scheijen","year":"2002","journal-title":"Oncogene"},{"key":"10.1016\/j.leukres.2005.08.015_bib2","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1182\/blood.V87.1.273.273","article-title":"Constitutive activation of c-kit in FMA3 murine mastocytoma cells caused by deletion of seven amino acids at the juxtamembrane domain","volume":"87","author":"Tsujimura","year":"1996","journal-title":"Blood"},{"key":"10.1016\/j.leukres.2005.08.015_bib3","doi-asserted-by":"crossref","first-page":"1736","DOI":"10.1172\/JCI116761","article-title":"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","volume":"92","author":"Furitsu","year":"1993","journal-title":"J Clin Invest"},{"key":"10.1016\/j.leukres.2005.08.015_bib4","doi-asserted-by":"crossref","first-page":"1227","DOI":"10.1046\/j.1523-1747.1998.00414.x","article-title":"Identification of activating c-kit mutations in adult-, but not in childhood-onset indolent mastocytosis: a possible explanation for divergent clinical behavior","volume":"111","author":"Buttner","year":"1998","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.leukres.2005.08.015_bib5","doi-asserted-by":"crossref","first-page":"3559","DOI":"10.1182\/blood.V97.11.3559","article-title":"Signal transducer and activator of transcription 3 activation is required for Asp(816) mutant c-Kit-mediated cytokine-independent survival and proliferation in human leukemia cells","volume":"97","author":"Ning","year":"2001","journal-title":"Blood"},{"key":"10.1016\/j.leukres.2005.08.015_bib6","doi-asserted-by":"crossref","first-page":"660","DOI":"10.1038\/sj.onc.1206120","article-title":"Effect of tyrosine kinase inhibitor STI571 on the kinase activity of wild-type and various mutated c-kit receptors found in mast cell neoplasms","volume":"22","author":"Zermati","year":"2003","journal-title":"Oncogene"},{"key":"10.1016\/j.leukres.2005.08.015_bib7","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1016\/S0140-6736(03)14115-3","article-title":"Imatinib for systemic mast-cell disease","volume":"362","author":"Pardanani","year":"2003","journal-title":"Lancet"},{"key":"10.1016\/j.leukres.2005.08.015_bib8","doi-asserted-by":"crossref","first-page":"3038","DOI":"10.1182\/blood-2004-03-0787","article-title":"FIP1L1-PDGFRA fusion: prevalence and clinicopathologic correlates in 89 consecutive patients with moderate to severe eosinophilia","volume":"104","author":"Pardanani","year":"2004","journal-title":"Blood"},{"key":"10.1016\/j.leukres.2005.08.015_bib9","doi-asserted-by":"crossref","first-page":"3222","DOI":"10.1182\/blood-2003-11-3816","article-title":"A novel form of mastocytosis associated with a transmembrane c-Kit mutation and response to imatinib","volume":"103","author":"Akin","year":"2003","journal-title":"Blood"},{"key":"10.1016\/j.leukres.2005.08.015_bib10","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1016\/S0145-2126(01)00038-8","article-title":"Diagnostic criteria and classification of mastocytosis: a consensus proposal","volume":"25","author":"Valent","year":"2001","journal-title":"Leuk Res"},{"key":"10.1016\/j.leukres.2005.08.015_bib11","first-page":"186","article-title":"An optimized multiplex polymerase chain reaction (PCR) for detection of BCR-ABL fusion mRNAs in haematological disorders","volume":"8","author":"Cross","year":"1994","journal-title":"Leukemia"},{"key":"10.1016\/j.leukres.2005.08.015_bib12","doi-asserted-by":"crossref","first-page":"E88","DOI":"10.1093\/nar\/29.17.e88","article-title":"An efficient procedure for genotyping single nucleotide polymorphisms","volume":"29","author":"Ye","year":"2001","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.leukres.2005.08.015_bib13","doi-asserted-by":"crossref","first-page":"5573","DOI":"10.1038\/sj.onc.1202939","article-title":"Isoforms of c-KIT differ in activation of signalling pathways and transformation of NIH3T3 fibroblasts","volume":"18","author":"Caruana","year":"1999","journal-title":"Oncogene"},{"key":"10.1016\/j.leukres.2005.08.015_bib14","doi-asserted-by":"crossref","first-page":"9159","DOI":"10.1074\/jbc.M211726200","article-title":"Src family kinases are involved in the differential signaling from two splice forms of c-Kit","volume":"278","author":"Voytyuk","year":"2003","journal-title":"J Biol Chem"},{"key":"10.1016\/j.leukres.2005.08.015_bib15","doi-asserted-by":"crossref","first-page":"1742","DOI":"10.1001\/archinte.150.8.1742","article-title":"Familial urticaria pigmentosa","volume":"150","author":"Clark","year":"1990","journal-title":"Arch Intern Med"},{"key":"10.1016\/j.leukres.2005.08.015_bib16","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1001\/archderm.122.1.80","article-title":"Familial urticaria pigmentosa","volume":"122","author":"Fowler","year":"1986","journal-title":"Arch Dermatol"},{"key":"10.1016\/j.leukres.2005.08.015_bib17","doi-asserted-by":"crossref","first-page":"682","DOI":"10.1046\/j.1365-2133.2001.04123.x","article-title":"Mastocytosis: recent advances in defining the disease","volume":"144","author":"Hartmann","year":"2001","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.leukres.2005.08.015_bib18","doi-asserted-by":"crossref","first-page":"1609","DOI":"10.1073\/pnas.96.4.1609","article-title":"Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis","volume":"96","author":"Longley","year":"1999","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.leukres.2005.08.015_bib19","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1046\/j.1365-2133.1999.02814.x","article-title":"Lack of c-kit mutation in familial urticaria pigmentosa","volume":"140","author":"Rosbotham","year":"1999","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.leukres.2005.08.015_bib20","doi-asserted-by":"crossref","first-page":"1130","DOI":"10.1046\/j.1365-2133.1999.02890.x","article-title":"Analysis of c-kit exon 11 and exon 17 of urticaria pigmentosa that occurred in monozygotic twin sisters","volume":"140","author":"Sato-Matsumura","year":"1999","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.leukres.2005.08.015_bib21","doi-asserted-by":"crossref","first-page":"e88","DOI":"10.1136\/jmg.2003.015156","article-title":"A germline mutation in KIT in familial diffuse cutaneous mastocytosis","volume":"41","author":"Tang","year":"2004","journal-title":"J Med Genet"},{"key":"10.1016\/j.leukres.2005.08.015_bib22","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1038\/1209","article-title":"Familial gastrointestinal stromal tumours with germline mutation of the KIT gene","volume":"19","author":"Nishida","year":"1998","journal-title":"Nat Genet"},{"key":"10.1016\/j.leukres.2005.08.015_bib23","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1002\/1097-0142(20010801)92:3<657::AID-CNCR1367>3.0.CO;2-D","article-title":"Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa","volume":"92","author":"Beghini","year":"2001","journal-title":"Cancer"},{"key":"10.1016\/j.leukres.2005.08.015_bib24","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1002\/ajmg.a.30388","article-title":"Novel c-KIT germline mutation in a family with gastrointestinal stromal tumors and cutaneous hyperpigmentation","volume":"132","author":"Carballo","year":"2005","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.leukres.2005.08.015_bib25","doi-asserted-by":"crossref","first-page":"1358","DOI":"10.1016\/0016-5085(90)90357-7","article-title":"Achalasia due to diffuse esophageal leiomyomatosis and inherited as an autosomal dominant disorder. Report of a family study","volume":"98","author":"Marshall","year":"1990","journal-title":"Gastroenterology"}],"container-title":["Leukemia Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0145212605003218?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0145212605003218?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,4,9]],"date-time":"2020-04-09T17:29:43Z","timestamp":1586453383000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0145212605003218"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,4]]},"references-count":25,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2006,4]]}},"alternative-id":["S0145212605003218"],"URL":"https:\/\/doi.org\/10.1016\/j.leukres.2005.08.015","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.12621.470103","asserted-by":"object"}]},"ISSN":["0145-2126"],"issn-type":[{"value":"0145-2126","type":"print"}],"subject":[],"published":{"date-parts":[[2006,4]]}}}