Your browser does not fully support modern features. Please upgrade for a smoother experience.
Submitted Successfully!
Thank you for your contribution! You can also upload a video entry or images related to this topic. For video creation, please contact our Academic Video Service.
Version Summary Created by Modification Content Size Created at Operation
1 Dean Liu + 820 word(s) 820 2020-12-15 07:58:29

Video Upload Options

We provide professional Academic Video Service to translate complex research into visually appealing presentations. Would you like to try it?
No, upload directly Yes
Cite
If you have any further questions, please contact Encyclopedia Editorial Office.
Liu, D. KIT Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4323 (accessed on 17 September 2026).
Liu D. KIT Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4323. Accessed September 17, 2026.
Liu, Dean. "KIT Gene" Encyclopedia, https://encyclopedia.pub/entry/4323 (accessed September 17, 2026).
Liu, D. (2020, December 23). KIT Gene. In Encyclopedia. https://encyclopedia.pub/entry/4323
Liu, Dean. "KIT Gene." Encyclopedia. Web. 23 December, 2020.
KIT Gene
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/kit

KIT proto-oncogene receptor tyrosine kinase

genes

References

  1. Dessinioti C, Stratigos AJ, Rigopoulos D, Katsambas AD. A review of geneticdisorders of hypopigmentation: lessons learned from the biology of melanocytes.Exp Dermatol. 2009 Sep;18(9):741-9. doi: 10.1111/j.1600-0625.2009.00896.x.
  2. Ezoe K, Holmes SA, Ho L, Bennett CP, Bolognia JL, Brueton L, Burn J, FalabellaR, Gatto EM, Ishii N, et al. Novel mutations and deletions of the KIT (steelfactor receptor) gene in human piebaldism. Am J Hum Genet. 1995 Jan;56(1):58-66.
  3. Falchi L, Verstovsek S. Kit Mutations: New Insights and Diagnostic Value.Immunol Allergy Clin North Am. 2018 Aug;38(3):411-428. doi:10.1016/j.iac.2018.04.005.
  4. Hirota S, Isozaki K, Moriyama Y, Hashimoto K, Nishida T, Ishiguro S, Kawano K,Hanada M, Kurata A, Takeda M, Muhammad Tunio G, Matsuzawa Y, Kanakura Y,Shinomura Y, Kitamura Y. Gain-of-function mutations of c-kit in humangastrointestinal stromal tumors. Science. 1998 Jan 23;279(5350):577-80.
  5. Hoermann G, Gleixner KV, Dinu GE, Kundi M, Greiner G, Wimazal F,Hadzijusufovic E, Mitterbauer G, Mannhalter C, Valent P, Sperr WR. The KIT D816V allele burden predicts survival in patients with mastocytosis and correlates withthe WHO type of the disease. Allergy. 2014 Jun;69(6):810-3. doi:10.1111/all.12409.
  6. Hongyo T, Li T, Syaifudin M, Baskar R, Ikeda H, Kanakura Y, Aozasa K, NomuraT. Specific c-kit mutations in sinonasal natural killer/T-cell lymphoma in China and Japan. Cancer Res. 2000 May 1;60(9):2345-7.
  7. Isozaki K, Terris B, Belghiti J, Schiffmann S, Hirota S, Vanderwinden JM.Germline-activating mutation in the kinase domain of KIT gene in familialgastrointestinal stromal tumors. Am J Pathol. 2000 Nov;157(5):1581-5.
  8. Lim KH, Pardanani A, Tefferi A. KIT and mastocytosis. Acta Haematol.2008;119(4):194-8. doi: 10.1159/000140630.
  9. López V, Jordá E. Piebaldism in a 2-year-old girl. Dermatol Online J. 2011 Feb15;17(2):13. Review.
  10. Nakai Y, Nonomura N, Oka D, Shiba M, Arai Y, Nakayama M, Inoue H, Nishimura K,Aozasa K, Mizutani Y, Miki T, Okuyama A. KIT (c-kit oncogene product) pathway is constitutively activated in human testicular germ cell tumors. Biochem BiophysRes Commun. 2005 Nov 11;337(1):289-96.
  11. Roskoski R Jr. Signaling by Kit protein-tyrosine kinase--the stem cell factor receptor. Biochem Biophys Res Commun. 2005 Nov 11;337(1):1-13. Review.
  12. Spritz RA, Giebel LB, Holmes SA. Dominant negative and loss of functionmutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism. Am J Hum Genet. 1992 Feb;50(2):261-9.
  13. Spritz RA. Molecular basis of human piebaldism. J Invest Dermatol. 1994Nov;103(5 Suppl):137S-140S. Review.
  14. Spritz RA. Piebaldism, Waardenburg syndrome, and related disorders ofmelanocyte development. Semin Cutan Med Surg. 1997 Mar;16(1):15-23. Review.
  15. Thomas I, Kihiczak GG, Fox MD, Janniger CK, Schwartz RA. Piebaldism: anupdate. Int J Dermatol. 2004 Oct;43(10):716-9. Review.
  16. Tremblay D, Carreau N, Kremyanskaya M, Mascarenhas J. Systemic Mastocytosis:Clinical Update and Future Directions. Clin Lymphoma Myeloma Leuk. 2015Dec;15(12):728-38. doi: 10.1016/j.clml.2015.07.644.
More
©Text is available under the terms and conditions of the Creative Commons-Attribution ShareAlike (CC BY-SA) license; additional terms may apply. By using this site, you agree to the Terms and Conditions and Privacy Policy.
Upload a video for this entry
Information
Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Dean Liu
View Times: 1.6K
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
Table of Contents
    Notice
    You are not a member of the advisory board for this topic. If you want to update advisory board member profile, please contact office@encyclopedia.pub.
    OK
    Confirm
    Only members of the Encyclopedia advisory board for this topic are allowed to note entries. Would you like to become an advisory board member of the Encyclopedia?
    Yes
    No
    ${ textCharacter }/${ maxCharacter }
    Submit
    Cancel
    There is no comment~
    ${ textCharacter }/${ maxCharacter }
    Submit
    Cancel
    ${ selectedItem.replyTextCharacter }/${ selectedItem.replyMaxCharacter }
    Submit
    Cancel
    Confirm
    Are you sure to Delete?
    Yes No
    Academic Video Service
    Feedback