Recombinant Human Mast/stem cell growth factor receptor Kit (KIT), partial (Active)

1. Mutations of the KIT gene may affect the structure and function of the transmembrane receptor KIT, which lead to Piebaldism. PMID: 29896733
2. A genetic analysis revealed a novel heterozygous mutation c.645_650delTGTGTC which results in the in-frame deletion of Val216 and Ser217 in the extracellular domain of KIT in case of familial piebaldism. Mutant KIT was able to form a heterodimer with Wt KIT and bind SCF; however, the phosphorylation of KIT, STAT5 and ERK1/2 was markedly decreased. PMID: 29631773
3. These results suggest that, in leukaemic lymphoblasts, c-Kit triggers a signalling pathway with proliferative and anti-apoptotic effects; information to this effect has not yet been reported in the literature PMID: 29495952
4. KIT and PDGFRA mutations account for 85-90% of GISTs; subsequent genetic studies have led to the identification of mutation/epimutation of additional genes, including the succinate dehydrogenase (SDH) subunit A, B, C, and D genes. PMID: 29413424
5. Data show that Kit autophosphorylation is spatio-temporally regulated and may offer a new strategy for treating imatinib-resistant gastrointestinal stromal tumours (GISTs) . PMID: 29196126
6. combined panel had the highest sensitivity and specificity at 96.3% and 100%, which was significantly or marginally higher than those of EZH2, C-KIT, and CD205 alone PMID: 29487009
7. The results show that KIT mutations and CD-117 overexpression in vulvar melanomas markers of better progression free survival. PMID: 28734009
8. current c-Kit reporter models are discussed with respect to myocardial c-Kit cell biology and function. PMID: 28627370
9. Cytoplasmic membrane CD117 immunoreactivity was demonstrated in only four (15%) out of 27 squamous cell carcinoma of the esophagus and in none of the controls. PMID: 29970514
10. a D816V-positive result in a screening blood sample identifies systemic mastocytosis among patients with hymenoptera venom-induced anaphylaxis in whom the diagnosis would most probably have been missed PMID: 28432683
11. PKC-delta expression is associated with KIT expression and the prognosis of patients with adenoid cystic carcinomas (AdCCs), suggesting that PKC-delta may be a potential therapeutic target for AdCCs. PMID: 28561935
12. Findings show that CD117 is negative in the majority of tumors with superficial features of in-situ or invasive squamous cell carcinoma and deeper, infiltrative islands with glandular differentiation, supporting that cutaneous adenosquamous carcinoma might be closer to being a variant of squamous cell carcinoma than an adnexal carcinoma. PMID: 28766737
13. Study demonstrates that an oncogenic tyrosine kinase mutant, KIT(D816V), can alter the transcriptional program of the transcription factor MITF in melanoma. PMID: 28584020
14. High c-kit expression is associated with small cell lung cancer. PMID: 28055980
15. The expression of c-Kit under the influence of nilotinib, dasatinib, erlotinib, gefitinib and afatinib was studied in HPV-positive head and neck squamous cell carcinomas. Gefitinib significantly increased cKIT expression in HPV-positive and HPV-negative head and neck squamous cell carcinoma cells whereas nilotinib and afatinib decreased cKIT expression in HPV-positive SCC. PMID: 29715092
16. CD117 can be a useful marker to help differentiate plasmablastic plasma cell myeloma from plasmablastic lymphoma PMID: 28226184
17. Our findings showed that increased expression of CD34 and CD117 markers confer tumor progression and aggressiveness on prostate cancer. PMID: 28552539
18. A phase Ib study of dasatinib plus ipilimumab in patients with gastrointestinal stromal tumor (GIST) and other sarcomas was performed on the basis of preclinical data demonstrating that combined KIT and CTLA-4 blockade is synergistic. PMID: 28007774
19. Mutation in KIT gene is associated with mucosal melanoma. PMID: 28296713
20. 4 different mutant (MT-KIT) KIT proteins from GIST tumors are intrinsically less stable than wild-type KIT due to proteasome-mediated degradation and abnormally localized to the endoplasmic reticulum or the Golgi complex. PKC-theta; is strongly and exclusively expressed in GISTs and interacts with intracellular MT-KIT to promote its stabilization by increased retention in the Golgi complex. PMID: 27440273
21. Report a new in vivo model of KIT D816V+ advanced systemic mastocytosis developed by transplantation of the human ROSAKIT D816V-Gluc mast cell line in NOD-SCID IL-2R gamma-/- mice, using Gaussia princeps luciferase as a reporter. PMID: 27783996
22. KIT D816V mutation sensitized mast cells from systemic mastocytosis patients to histone deacetylase inhibitor mediated killing. PMID: 28038453
23. the presented study demonstrates that CBFB-MYH11-based MRD status during the first 3 months after allo-HCT, but not KIT mutations, can be used to identify patients with a high risk of relapse. PMID: 27650511
24. we have shown that KIT(+) cells in human, rat, mouse and guinea pig bladder are mast cells and not interstitial cells of Cajal PMID: 27997763
25. Hedgehog pathway dysregulation contributes to the pathogenesis of human gastrointestinal stromal tumors via GLI-mediated activation of KIT expression. PMID: 27793025
26. findings that the CD56 and CD117 expression levels are lower in advanced stages than earlier stages and that LDH level and CD117 expression have an inverse relationship in patients with newly diagnosed multiple myeloma (MM) suggest that CD56 and CD117 expressions may be prognostic markers for MM. PMID: 28270374
27. Similar to previously reported results with imatinib, nilotinib showed greater activity among patients with an exon 11 mutation, including L576P, suggesting that nilotinib may be an effective treatment option for patients with specific KIT mutations PMID: 28327988
28. activation of KIT by a gain-of-function, somatic mutation is a novel mechanism of resistance to crizotinib in ROS1 rearranged non-small cell lung cancer PMID: 27068398
29. Mutational activation of Kit-, Ras/Raf/Erk- and Akt- pathways indicate the biological importance of these pathways and their components as potential targets for therapy. PMID: 27391150
30. KIT exon 11 codons 557-558 deletion enhanced CXCL12-mediated GIST cell migration. PMID: 26936919
31. Data show the kinetic behavior of a G-rich sequence located within the c-KIT proximal promoter (kit2) in the presence of monovalent cations K+ and Na+. PMID: 29069417
32. Long-term follow-up of patients with metastatic GIST treated with regorafenib suggests particular benefit among patients with primary KIT exon 11 mutations and those with SDH-deficient GIST. Dose modifications are frequently required to manage treatment-related toxicities PMID: 27371698
33. To study the mechanism underlying the mixed clinical response, we carried out whole-exome sequencing and targeted longitudinal analysis of cfDNA. This revealed two tumour subclones; one with a KIT mutation that responded to imatinib and a second KIT-wild-type subclone that did not respond to imatinib and a second KIT-wild-type subclone that did not respond to imatinib PMID: 27502704
34. c-kit-positive cells derived from right atrium tissue were associated with serum BNP PMID: 29151486
35. For hot spots in KIT and PDGFRA genes, 23 out of 146 KIT/PDGFRA wild-type cases carried mutations according to next-generation sequencing (NGS). PMID: 26848617
36. KIT and DNMT1 co-expression promotes, whereas dual inactivation of them suppresses, lung cancer cell proliferation and metastatic growth in vitro and in vivo, in a synergistic manner. PMID: 28869603
37. Data indicate that BRAF, NRAS and C-KIT melanomas constitute distinct clinico-pathological entities. PMID: 29187493
38. our data established CD117 as a direct target of miR-34-5p and demonstrated that this regulation interferes with several CD117-mediated effects on osteosarcoma cells PMID: 27056900
39. Results indicate anthraquinone derivative AQ1 as a promising compound for the target therapy of c-KIT-dependent tumors. PMID: 26942875
40. Data show that afatinib resistant clones were selectively killed by knock down of ERBB3 + c-MET + c-KIT, but not by the individual or doublet knock down combinations, and the combination of afatinib with the SRC family inhibitor dasatinib killed afatinib resistant H1975 cells in a greater than additive fashion. PMID: 26934000
41. Multivariate analysis confirmed KIT exon 11 deletion (P = 0.003) and clinical risk classification (P < 0.001) as independent adverse prognostic factors for RFS. Intermediate-risk patients harboring KIT exon 11 deletions had RFS outcomes similar to high-risk patients. PMID: 27753268
42. to establish that, of all KIT mutations, D816 mutation alone is an unfavorable prognostic factor. PMID: 28762080
43. Podocalyxin-like protein 1 is a relevant marker for human c-kit(pos) cardiac stem cells.( PMID: 23897803
44. High fertilization (56.06%) and pregnancy (41.7%) rates accomplished in this study following ICSI-AOA indicated that expression profiles of PLCzeta, PAWP, and TR-KIT were low in globozoospermic individuals PMID: 27089467
45. Different types of cancers harbor mutations in the oncogene KIT PMID: 27216642
46. KIT knockdown increased RAS/MAPK pathway activation in a BRAF(V600E)-mutant melanoma cell line. PMID: 28947418
47. Multivariate analysis showed that KIT-AL and TET2 mutations were associated with inferior LFS, whereas age 40 years and marrow blast 70% were associated with inferior OS. PMID: 27391574
48. High KIT expression is associated with drug Resistance in Gastrointestinal Stromal Tumors. PMID: 28760855
49. the critical physiological role of the KIT-ET3-NO pathway in fulfilling high demand (exceeding basal level) of endothelium-dependent NO generation for coping with atherosclerosis, pregnancy, and aging, is reported. PMID: 28880927
50. determined that miR-137 can participate in the leukemogenesis by regulating c-kit, which could be used as a therapeutic target for acute myeloid leukemia PMID: 28314168

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HGNC: 6342

OMIM: 164920

KEGG: hsa:3815

STRING: 9606.ENSP00000288135

UniGene: Hs.479754