×
Entrez Id: 3815
Gene Symbol: KIT
KIT
Gastrointestinal Stromal Tumors
1.000
GeneticVariation
CLINVAR
Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism.
7529964 1995
×
Entrez Id: 3815
Gene Symbol: KIT
KIT
Gastrointestinal Stromal Tumors
1.000
CausalMutation
CLINVAR
A novel gain-of-function mutation of c-kit gene in gastrointestinal stromal tumors.
9797363 1998
×
Entrez Id: 3815
Gene Symbol: KIT
KIT
Gastrointestinal Stromal Tumors
1.000
GeneticVariation
CLINVAR
Inhibition of spontaneous receptor phosphorylation by residues in a putative alpha-helix in the KIT intracellular juxtamembrane region.
10224103 1999
×
Entrez Id: 3815
Gene Symbol: KIT
KIT
Gastrointestinal Stromal Tumors
1.000
GeneticVariation
CLINVAR
Cause of familial and multiple gastrointestinal autonomic nerve tumors with hyperplasia of interstitial cells of Cajal is germline mutation of the c-kit gene.
10680913 2000
×
Entrez Id: 3815
Gene Symbol: KIT
KIT
Gastrointestinal Stromal Tumors
1.000
GeneticVariation
CLINVAR
STI571 inactivation of the gastrointestinal stromal tumor c-KIT oncoprotein: biological and clinical implications.
11526490 2001
×
Entrez Id: 3815
Gene Symbol: KIT
KIT
Gastrointestinal Stromal Tumors
1.000
GeneticVariation
CLINVAR
Six families have been reported in which a germ-line mutation in KIT is associated with an autosomal dominant predisposition to the development of GIST s.
14977822 2004
×
Entrez Id: 3815
Gene Symbol: KIT
KIT
Gastrointestinal Stromal Tumors
1.000
GeneticVariation
CLINVAR
A new mutation in the KIT ATP pocket causes acquired resistance to imatinib in a gastrointestinal stromal tumor patient.
15236194 2004
×
Entrez Id: 3815
Gene Symbol: KIT
KIT
Gastrointestinal Stromal Tumors
1.000
GeneticVariation
CLINVAR
We performed a cytogenetic analysis and screened for mutations of the KIT and PDGFRA kinase domains in 26 resistant GIST s.
15685537 2005
×
Entrez Id: 3815
Gene Symbol: KIT
KIT
Gastrointestinal Stromal Tumors
1.000
GeneticVariation
CLINVAR
Activation mutations of human c-KIT resistant to imatinib mesylate are sensitive to the tyrosine kinase inhibitor PKC412.
15790786 2005
×
Entrez Id: 3815
Gene Symbol: KIT
KIT
Gastrointestinal Stromal Tumors
1.000
CausalMutation
CLINVAR
Analysis of KIT mutations in sporadic and familial gastrointestinal stromal tumors: therapeutic implications through protein modeling.
15897563 2005
×
Entrez Id: 3815
Gene Symbol: KIT
KIT
Gastrointestinal Stromal Tumors
1.000
GeneticVariation
CLINVAR
Structure and regulation of Kit protein-tyrosine kinase--the stem cell factor receptor.
16226710 2005
×
Entrez Id: 3815
Gene Symbol: KIT
KIT
Gastrointestinal Stromal Tumors
1.000
GeneticVariation
CLINVAR
Efficacy of the kinase inhibitor SU11248 against gastrointestinal stromal tumor mutants refractory to imatinib mesylate.
16638875 2006
×
Entrez Id: 3815
Gene Symbol: KIT
KIT
Gastrointestinal Stromal Tumors
1.000
GeneticVariation
CLINVAR
An update on molecular genetics of gastrointestinal stromal tumours.
16731599 2006
×
Entrez Id: 3815
Gene Symbol: KIT
KIT
Gastrointestinal Stromal Tumors
1.000
GeneticVariation
CLINVAR
Functional analyses and molecular modeling of two c-Kit mutations responsible for imatinib secondary resistance in GIST patients.
16751810 2006
×
Entrez Id: 3815
Gene Symbol: KIT
KIT
Gastrointestinal Stromal Tumors
1.000
GeneticVariation
CLINVAR
Molecular correlates of imatinib resistance in gastrointestinal stromal tumors.
16954519 2006
×
Entrez Id: 3815
Gene Symbol: KIT
KIT
Gastrointestinal Stromal Tumors
1.000
CausalMutation
CLINVAR
A new familial GIST identified.
17001171 2006
×
Entrez Id: 3815
Gene Symbol: KIT
KIT
Gastrointestinal Stromal Tumors
1.000
GeneticVariation
CLINVAR
New mutations of KIT gene in two Chinese patients with piebaldism.
17107413 2006
×
Entrez Id: 3815
Gene Symbol: KIT
KIT
Gastrointestinal Stromal Tumors
1.000
GeneticVariation
CLINVAR
Piebald trait: implication of kit mutation on in vitro melanocyte survival and on the clinical application of cultured epidermal autografts.
17124503 2007
×
Entrez Id: 3815
Gene Symbol: KIT
KIT
Gastrointestinal Stromal Tumors
1.000
GeneticVariation
CLINVAR
Juxtamembrane-type c-kit gene mutation found in aggressive systemic mastocytosis induces imatinib-resistant constitutive KIT activation.
17259998 2007
×
Entrez Id: 3815
Gene Symbol: KIT
KIT
Gastrointestinal Stromal Tumors
1.000
GeneticVariation
CLINVAR
Resistance to c-KIT kinase inhibitors conferred by V654A mutation.
17363509 2007
×
Entrez Id: 3815
Gene Symbol: KIT
KIT
Gastrointestinal Stromal Tumors
1.000
GeneticVariation
CLINVAR
Characterization of tyrosine kinase I domain c-kit gene mutation Asn655Lys newly found in primary jejunal gastrointestinal stromal tumor.
17489795 2007
×
Entrez Id: 3815
Gene Symbol: KIT
KIT
Gastrointestinal Stromal Tumors
1.000
GeneticVariation
CLINVAR
Sorafenib inhibits the imatinib-resistant KITT670I gatekeeper mutation in gastrointestinal stromal tumor.
17699867 2007
×
Entrez Id: 3815
Gene Symbol: KIT
KIT
Gastrointestinal Stromal Tumors
1.000
GeneticVariation
CLINVAR
We present a case in which a germline KIT exon 13 mutation (K642E) was discovered in a patient with multiple GIST s of rectum, small intestine, and esophagus, as well as diffuse hyperplasia of the interstitial cells of Cajal.
17824795 2007
×
Entrez Id: 3815
Gene Symbol: KIT
KIT
Gastrointestinal Stromal Tumors
1.000
CausalMutation
CLINVAR
Clinical, histopathologic, molecular and therapeutic findings in a large kindred with gastrointestinal stromal tumor.
17943734 2008
×
Entrez Id: 3815
Gene Symbol: KIT
KIT
Gastrointestinal Stromal Tumors
1.000
GeneticVariation
CLINVAR
KIT kinase mutants show unique mechanisms of drug resistance to imatinib and sunitinib in gastrointestinal stromal tumor patients.
19164557 2009