title: Effects of loss-of-function and gain-of-function mutations of c-kit on the gastrointestinal tract.
abstract: Protooncogene c-kit encodes a receptor tyrosine kinase, KIT. Interstitial cells of Cajal (ICCs) that are important for the autonomous movement of the gastrointestinal tract essentially require the normal function of the KIT for their development. Therefore, germline loss-of-function mutations of the c-kit gene cause deficiency of ICCs that results in disturbed gastrointestinal movement. On the other hand, somatic gain-of-function mutations of the c-kit gene induce gastrointestinal stromal tumors (GIST) that are considered to originate from ICCs. Moreover, germline gain-of-function mutations of the c-kit gene are a cause of familial development of multiple GISTs.
authors.affiliation: Department of Pathology, Osaka University Medical School, Suita, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Hirota
authors.forename: K
authors.initials: K
authors.lastname: Isozaki
authors.forename: T
authors.initials: T
authors.lastname: Nishida
authors.forename: Y
authors.initials: Y
authors.lastname: Kitamura
mesh_terms: D000818:Animals; D002471:Cell Transformation, Neoplastic / Q000235:genetics*; D002872:Chromosome Deletion; D005260:Female; D005769:Gastrointestinal Motility / Q000235:genetics; D005770:Gastrointestinal Neoplasms / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D051379:Mice; D008819:Mice, Nude; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D017154:Stromal Cells / Q000473:pathology
chemical_list: D019009:Proto-Oncogene Proteins c-kit