Mastcell growth factor receptor Kit
The KIT gene encodes a cell receptor involved in mast cell regulation. Therefore mutations are found with mast cell activation syndrome. Also as it is an oncogene mutations are seen in various tumors.
Genetests:
Related Diseases:
References:
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Fritsche-Polanz R et al. (2001) Mutation analysis of C-KIT in patients with myelodysplastic syndromes without mastocytosis and cases of systemic mastocytosis.
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2. |
Nishida T et al. (1998) Familial gastrointestinal stromal tumours with germline mutation of the KIT gene.
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3. |
Nomura K et al. (1998) A novel KIT gene missense mutation in a Japanese family with piebaldism.
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4. |
Marklund S et al. (1998) Molecular basis for the dominant white phenotype in the domestic pig.
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5. |
Vincent S et al. (1998) Stage-specific expression of the Kit receptor and its ligand (KL) during male gametogenesis in the mouse: a Kit-KL interaction critical for meiosis.
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6. |
Worobec AS et al. (1998) Clinical correlates of the presence of the Asp816Val c-kit mutation in the peripheral blood mononuclear cells of patients with mastocytosis.
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7. |
Lasota J et al. (1999) Mutations in exon 11 of c-Kit occur preferentially in malignant versus benign gastrointestinal stromal tumors and do not occur in leiomyomas or leiomyosarcomas.
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8. |
Longley BJ et al. (1999) Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis.
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9. |
Tian Q et al. (1999) Activating c-kit gene mutations in human germ cell tumors.
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10. |
Reinsch N et al. () A QTL for the degree of spotting in cattle shows synteny with the KIT locus on chromosome 6.
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11. |
Blume-Jensen P et al. (2000) Kit/stem cell factor receptor-induced activation of phosphatidylinositol 3'-kinase is essential for male fertility.
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12. |
Kissel H et al. (2000) Point mutation in kit receptor tyrosine kinase reveals essential roles for kit signaling in spermatogenesis and oogenesis without affecting other kit responses.
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13. |
Isozaki K et al. (2000) Germline-activating mutation in the kinase domain of KIT gene in familial gastrointestinal stromal tumors.
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14. |
Syrris P et al. (2000) Three novel mutations of the proto-oncogene KIT cause human piebaldism.
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15. |
Joensuu H et al. (2001) Effect of the tyrosine kinase inhibitor STI571 in a patient with a metastatic gastrointestinal stromal tumor.
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16. |
Giebel LB et al. (1991) Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism.
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17. |
Taylor ML et al. (2001) The Kit-activating mutation D816V enhances stem cell factor--dependent chemotaxis.
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18. |
Beghini A et al. (2001) Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa.
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19. |
Savage DG et al. (2002) Imatinib mesylate--a new oral targeted therapy.
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20. |
De Miguel MP et al. (2002) Dissection of the c-Kit signaling pathway in mouse primordial germ cells by retroviral-mediated gene transfer.
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21. |
Giuffra E et al. (2002) A large duplication associated with dominant white color in pigs originated by homologous recombination between LINE elements flanking KIT.
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22. |
Sommer G et al. (2003) Gastrointestinal stromal tumors in a mouse model by targeted mutation of the Kit receptor tyrosine kinase.
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23. |
Rothschild G et al. (2003) A role for kit receptor signaling in Leydig cell steroidogenesis.
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24. |
Chen LL et al. (2005) A mutation-created novel intra-exonic pre-mRNA splice site causes constitutive activation of KIT in human gastrointestinal stromal tumors.
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25. |
Rubin BP et al. (2005) A knock-in mouse model of gastrointestinal stromal tumor harboring kit K641E.
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26. |
Rassoulzadegan M et al. (2006) RNA-mediated non-mendelian inheritance of an epigenetic change in the mouse.
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27. |
Kondo R et al. (2007) Identification of heat shock protein 32 (Hsp32) as a novel survival factor and therapeutic target in neoplastic mast cells.
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28. |
Kasamatsu S et al. (2008) Production of the soluble form of KIT, s-KIT, abolishes stem cell factor-induced melanogenesis in human melanocytes.
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29. |
Mani M et al. (2009) Wiskott-Aldrich syndrome protein is an effector of Kit signaling.
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30. |
Chi P et al. (2010) ETV1 is a lineage survival factor that cooperates with KIT in gastrointestinal stromal tumours.
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31. |
Beghini A et al. (1998) c-kit activating mutations and mast cell proliferation in human leukemia.
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32. |
Ingram DA et al. (2000) Genetic and biochemical evidence that haploinsufficiency of the Nf1 tumor suppressor gene modulates melanocyte and mast cell fates in vivo.
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33. |
Spritz RA et al. (1998) Piebaldism with deafness: molecular evidence for an expanded syndrome.
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34. |
Richards KA et al. (2001) A novel KIT mutation results in piebaldism with progressive depigmentation.
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35. |
Spritz RA et al. (1992) Deletion of the KIT and PDGFRA genes in a patient with piebaldism.
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36. |
Spritz RA et al. (1992) Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism.
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37. |
None (1992) Human piebald trait resulting from a dominant negative mutant allele of the c-kit membrane receptor gene.
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38. |
Vandenbark GR et al. (1992) Cloning and structural analysis of the human c-kit gene.
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39. |
Spritz RA et al. (1992) Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism.
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40. |
Tan JC et al. (1990) The dominant W42 spotting phenotype results from a missense mutation in the c-kit receptor kinase.
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41. |
Nocka K et al. (1990) Molecular bases of dominant negative and loss of function mutations at the murine c-kit/white spotting locus: W37, Wv, W41 and W.
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42. |
Brannan CI et al. (1991) Steel-Dickie mutation encodes a c-kit ligand lacking transmembrane and cytoplasmic domains.
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43. |
Fleischman RA et al. (1991) Deletion of the c-kit protooncogene in the human developmental defect piebald trait.
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44. |
Dubreuil P et al. (1991) The c-fms gene complements the mitogenic defect in mast cells derived from mutant W mice but not mi (microphthalmia) mice.
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45. |
Yarden Y et al. (1987) Human proto-oncogene c-kit: a new cell surface receptor tyrosine kinase for an unidentified ligand.
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46. |
Geissler EN et al. (1988) The dominant-white spotting (W) locus of the mouse encodes the c-kit proto-oncogene.
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47. |
Thomsen L et al. (1998) Interstitial cells of Cajal generate a rhythmic pacemaker current.
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48. |
Hirota S et al. (1998) Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors.
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49. |
Pignon JM et al. (1997) A new c-kit mutation in a case of aggressive mast cell disease.
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50. |
Johansson Moller M et al. (1996) Pigs with the dominant white coat color phenotype carry a duplication of the KIT gene encoding the mast/stem cell growth factor receptor.
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51. |
Longley BJ et al. (1996) Somatic c-KIT activating mutation in urticaria pigmentosa and aggressive mastocytosis: establishment of clonality in a human mast cell neoplasm.
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52. |
Packer AI et al. (1995) Kit ligand mediates survival of type A spermatogonia and dividing spermatocytes in postnatal mouse testes.
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53. |
Furitsu T et al. (1993) 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.
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54. |
Huizinga JD et al. (1995) W/kit gene required for interstitial cells of Cajal and for intestinal pacemaker activity.
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55. |
Tsujimura T et al. (1994) Ligand-independent activation of c-kit receptor tyrosine kinase in a murine mastocytoma cell line P-815 generated by a point mutation.
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56. |
Nagata H et al. (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.
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57. |
d'Auriol L et al. (1988) Localization of the human c-kit protooncogene on the q11-q12 region of chromosome 4.
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58. |
Bolognia JL et al. (1988) Biology of hypopigmentation.
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59. |
Chabot B et al. (1988) The proto-oncogene c-kit encoding a transmembrane tyrosine kinase receptor maps to the mouse W locus.
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60. |
Orphanet article
Orphanet ID 122862
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61. |
NCBI article
NCBI 3815
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62. |
OMIM.ORG article
Omim 164920
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63. |
Wikipedia article
Wikipedia EN (CD117)
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Update: Aug. 14, 2020