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«KIT

Below is an extended KIT publications listing. Click here to return to the gene page.

Gene Information from Publications

Publication Link Summary of findings
17726262 The frequency of KIT overexpression in gliomas was assessed and the genetic mechanisms underlying KIT overexpression were investigated.
18270328 Observational study of gene-disease association. (HuGE Navigator)
18212542 CD117 proved to be a very sensitive marker of Atypical fibroxanthoma
17960171 c-KIT but not CSF1R mutations play a role in the leukemogenesis of childhood CBF-AML
17645464 The size of the mucosal mast cell (MC) population in patients with inactive inflammatory bowel disease (IBD) is not altered by disease or by stress, yet MC in IBD are different (fewer c-kit receptors) and respond differently (greater activation).
18259950 Exon 11 mutation of CD-117 is associated with gastrointestinal stromal tumor
18265633 c-kit protein expression may play an important role in neoplasia of pancreatic neoplasms.
18265649 C-kit oncogenic mutations are more likely seen in CD-117-positive GISTs arising in the gastrointestinal tract and have no obvious relationship with biological behavior of GISTs.
18006222 Presence of c-kit gene mutations in testicular germ cell tumours may not be associated with bilateral diseases, at least in Japan.
16015387 Observational study of gene-disease association. (HuGE Navigator)
16029447 Observational study of gene-disease association. (HuGE Navigator)
16076867 Observational study of genotype prevalence. (HuGE Navigator)
16135486 Observational study of gene-disease association. (HuGE Navigator)
16697720 Observational study of gene-disease association. (HuGE Navigator)
16905672 Observational study of gene-disease association. (HuGE Navigator)
17448763 Observational study of gene-disease association. (HuGE Navigator)
17487541 Observational study of gene-disease association. (HuGE Navigator)
18187489 Observational study of gene-disease association. (HuGE Navigator)
17710669 Systemic mast cell activation disorder was pathogenetically characterized by two or more alterations in the Kit tyrosine kinase providing not only a means of confirming the diagnosis, but also of assessing prognosis.
18165278 These data suggest that KIT(D816V+) systemic mastocytosis (SM) can co-exist with JAK2(V617F+) chronic idiopathic myelofibrosis (CIMF) and in some of these SM-CIMF cases, the two mutations are present in the neoplastic cells of both disease components.
18192885 Pancreatic adenocarcinoma does not express CD117 antigen/KIT as assessed using a primary immunohistochemical antibody for CD117/KIT detection
18042065 Four mixed cell-type GISTs showed somatic KIT mutations... mixed cell-type GISTs
17943970 Frequently mutated in seminoma germ cell tumors, but not associated with bilateral disease as opposed to unilateral.
17827398 The incidence of both KIT and PDGFRA mutations in a Portuguese series was 63%. The great majority of mutations were located in KIT exon 11, statistically associated with worse prognosis and indicative of favourable response to imatinib-based therapy.
17989000 study found low frequency of KIT gene mutation in pediatric acute myeloid leukemia with inv(16)(p13q22)
17965221 KIT overexpression is rare in Wilms' tumours, although it appears to confer a worse prognosis; clear cell sarcomas of the kidney are associated with an increased expression of KIT, however, in the absence of gene amplification and/or activating mutation
17632543 Presence of homozygous KIT exon 11 mutations is associated with malignant course of disease and should be considered an adverse prognostic marker in gastrointestinal stromal tumors.
17526803 A sensitive, specific and cost-effective assay to detect the D816V mutation in archived formalin-fixed paraffin-embedded tissues from cases of SM has been developed.
17909012 study shows that pediatric KIT-wild-type gastrointestinal stromal tumors (GIST) exhibit KIT activation at levels comparable with KIT-mutant pediatric and adult GISTs although they do not have KIT (or PDGFRA) mutations
17546049 Gastrointestinal stromal tumor secondary KIT mutations can be associated with KIT hyperactivation and imatinib resistance.
17673922 Gastric gastrointestinal stromal tumors have a lower expression of KIT compared to intestinal GISTs.
17855052 Early myeloid cells expressing GNNK+ or GNNK-c-KIT show different responses to stem cell factor.
17904548 Grb2 mediates c-Kit degradation through recruitment of Cbl to c-Kit, leading to ubiquitination of c-Kit followed by internalization and degradation.
17024483 Acquired resistance of GIST to imatinib mesylate appears to be linked to a novel mutation in Proto-Oncogene Proteins c-kit.
17894554 Loss of heterozygosity of the c-kit gene in resected liver Gastrointestinal Stromal Neoplasms may be a helpful factor in the prediction of the prognosis of patients with liver metastasis.
17850794 VEGF receptor Flk-1 is involved in c-kit up regulation via ERK-mediated pathway
17487504 Overexpression of c-KIT is observed in a subset of primary and CRC metastases in the absence of c-kit mutations.
17595334 shows a major function of FES downstream of activated KIT receptor and thereby points to FES as a novel target in KIT-related pathologi
17720713 The 22-nt c-kit87 promoter sequence possesses distinctive three-dimensional structural features that are only present in at most a handful of other genes.
17525721 N822 mutation of KIT gene is frequent in pediatric acute myeloid leukemia patients with t(8;21) in Japan
17875504 Our study suggests that KIT activating mutations in AML with t(8; 21) are associated with diminished CD 19 and positive CD56 expression on leukemic blasts and, thus, can be phenotypically distinguished from AML1-ETO leukemias
17438095 Genomic alterations were present at disease onset in 1/3 of the examined cases. They therefore represent an early event possibly related to primary imatinib resistance in gastrointestinal stromal tumors.
17573850 Further understanding of KIT signaling in testicular germ cell tumors may lead to novel therapeutic approaches for these tumours.
17018686 study showed that c-kit is expressed in some osteosarcomas but protein expression is not of predictive value for the outcome of osteosarcoma patients; mutations in exon 9 & exon 11 of c-kit gene were not detected in the group showing protein expression
17519280 Phosphorylation of c-Kit receptor may be involved in mediating early beta-cell differentiation and survival.
17623951 Finds that fifty-seven percent of GIST had mutations at exon 11 of c-KIT gene. Finds no mutations at exons 9, 13, and 17 of KIT gene.
17551405 Point mutations of the C-KIT gene, in mastocytosis, were discovered in the bone marrow and the peripheral blood of the patient, abd in the tissue of the previously diagnosed germ cell tumor as well.
17495964 the MAGE-A3 and MAGE-C2 gene promoter regions are de-methylated in the presence of activated KIT but become methylated on inhibition of KIT, consistent with the downregulation of mRNA and protein
17691909 Dysregulated kit function is an important component of oncogenesis in a large number of neoplastic disorders, including systemic mastocytosis.
17681176 Adult intestine contained c-Kit positive immune precursor cells committed to the natural killer cell lineage.
12134042 essential role for c-Kit in KS tumorigenesis
16533529 Genetic abnormality in the KIT gene, particularly at codon 816, might contribute to the progression of myelodysplastic syndromes to acute myelocytic leukemia.
15315962 The activated KIT in turn induces phosphorylation and activation of Cbl proteins
17545544 KIT and PDGFRbeta gatekeeper mutations are involved in tumor progression and are resistant to imatinib, but are inhibited by sorafenib
15671569 c-kit may have a role in development of neuroblastic tumors
16780420 A study evaluating the mechanisms by which Cbl negatively regulates c-Kit-mediated signalling is presented.
17367465 KIT may have a significant role in the oncogenesis of mesenchymal tumours of the uterus and ovary.
16242000 The absence of mutations in exon 17 of CD117+ SCLC suggests this tumour may respond to therapy with tyrosine kinase inhibitors
15073597 Study demonstrates that the expression pattern and one mutation of c-kit may distinguish papillary renal cell carcinomas.
15073598 CD117 immunoreactivity identifies a peculiar subset of stage I adenocarcinoma and squamous cell carcinoma of the lung with highly proliferative tumors and may have prognostic relevance in adenocarcinoma patients.
15167915 c-kit mutation may account for the transient bone marrow mastocytosis in chronic myelogenous leukemia.
11861291 Mutations of c-KIT causing spontaneous activation of the KIT receptor kinase are associated with sporadic adult human mastocytosis (SAHM) and with human gastrointestinal stromal tumors.
14871970 ligand-activated KIT and platelet-derived growth factor receptor beta tyrosine kinase receptors are expressed in synovial sarcoma
15618474 KIT exon 8 mutations represent gain-of-function mutations
15326474 gene expression profiling of 26 gastrointesstinsal stromsal tumors with known KIT and PDGFRA mutational status
16786129 a KIT exon 13 mutation may have a role in resistance to imatinib in gastrointestinal stromal neoplasms
16928224 C-kit gene mutations were frequently found in patients with large GIST, more commonly in men than in women. However, the presence of a mutation was not predictive of prognosis in patients with large GIST.
15154005 KIT mutations were found in 14 (50%) gastrointestinal stromal tumors (GISTs), the majority being within exon 11, and the other comprised exon 9 AY 502-503 duplications and exon 17 Lys --> Aln822 missense mutations.
15339674 KIT gene is activated in Acute myeloid leukemiea characterized by distinct cytogenetic and molecular genetic patterns.
12008077 We have shown for the 1st time that CD117 is expressed at a much higher level in AML myeloblasts than in normal myeloid precursors.
12711118 overexpression of the c-kit protein is associated with large cell neuroendocrine carcinoma of the lung
12918066 Mutations and deletions in c-kit protooncogene is associated with metastatic behavior of gastrointestinal stromal tumors
14634801 the presence of c-Kit and VEGF overexpression is associated with the presence of second primary tumors in patients with melanoma; overexpression of c-Kit is more likely to be seen in the superficial spreading type
15018431 c-kit expression was demonstrated in all 11 sarcomas of the uterus regardless of histologic type
16830365 Positivity of CD117 and CD34 is the most valuable factor in diagnosing gastrointestinal stromal tumor (GIST).
15217946 neither c-kit nor its mutational status have a role in progression of small cell lung cancer
15370139 c-kit expression could also be added to the immunoprofile in the diagnosis of adenoid cystic carcinoma of the breast.
15583854 Kit is an human oncogenic tyrosine kinase [review]
15688149 expression of c-kit mRNA and c-kit protein significantly decreased in the colon of slow-transit constipation (STC), suggesting that the c-kit signal pathway may play an important role in interstitial cells of Cajal reduction in STC
15502806 A significant proportion (27%) of small cell carcinomas of the urinary bladder expressed c-kit, suggesting that it may prove useful as a therapeutic target in small cell carcinoma of the urinary bladder.
16352739 A disease with striking similarities to human mastocytosis develops spontaneously in transgenic mice expressing the human Asp816Val mutant Kit protooncogene specifically in Mast Cells.
12584564 KIT could be a useful marker for chromophobe renal cell carcinomas
12429808 the SCF-c-kit system, possibly with the contribution of mast cells, may have a growth-regulating role in the normal pancreas, which is altered during malignant transformation.
14669790 This result suggests that the loss of expression of this protein might correlate with malignant breast cancer progression, but it is most likely involved at an early stage of human breast cancer development.
12379771 findings demonstrate a unique KIT sequence and expression pattern among mediastinal seminomas; KIT sequencing may assist in differentiating primary from metastatic MS
12796027 overexpression of c-KIT is associated with extensive-stage small-cell lung carcinoma
16235251 The expression levels for c-Kit are high for Schwann cells derived from MPNST of neurofibromatosis type 1 tumors patients.
14994370 involvement of c-Kit receptor in the regulation of leukemic myeloblasts egress to the peripheral blood
15308671 c-Kit makes both kinase-independent and -dependent contributions to the proliferative synergy induced by SCF in combination with GM-CSF
15507672 mast cells and lymphocytes within focal aggregates of bone marrow from mastocytosis are frequently positive for the codon 816 activating mutation of kit
15507676 gastrointestinal stromal tumors show KIT gene deletions at the intron 10-exon 11 boundary
15623596 Overexpression and phosphorylatiom of kit receptor is associated with small cell lung cancer
15991300 C-kit mutation is undoubtedly pivotal event in gastrointestinal stromal tumors and may be associated with poor prognosis. Evaluation of C-kit gene mutation may have both prognosis and therapeutic significances.
16685437 KIT mutations, especially deletions in exon 11, are markers of poor prognosis for gastric intestinal stromal tumors.
16741248 a KIT mutation in mast cells and other bone marrow hematopoietic cell lineages may have a role in systemic mast cell disorders
17193822 KIT mutations in GIST are clustered in four exons. Most common are exon 11 mutations .Secondary mutations usually occur in KIT kinase domains in patients after imatinib treatment resulting in resistance to this drug.
17372901 Results suggest that a subset of anal melanomas show activating KIT mutations, which are susceptible for therapy with specific kinase inhibitors.
12393703 stem cell factor has "late" effects on fetal hemoglobin modulation during erythropoiesis, related to the expression pattern of CD117.
14677065 KIT expression is a rare event in multiple myeloma and not detectable in monoclonal gammopathy of undetermined significance and lymphoplasmacytic lymphoma
14695343 activating KIT mutations may contribute to tumorigenesis in a subset of seminomas, but are not involved in non-seminomatous germ cell tumors.
15062876 High eexpression level of both mutated and wild-type allele transcripts of c-kit suggests that interactions between spontaneously activated and normal c-kit receptors are important in GIST tumorigenesis.
12824925 types of mutations in sinonasal NK/T cell lymphoma in northeast district of China
12878163 c-Src phosphorylates the receptor KIT, thereby creating docking sites for SH2 domain containing proteins, leading to recruitment of Crk to the receptor.
15621809 review of the "two hits" model of leukemogenesis exemplified by c-kit gene mutations in the Kasumi-1 cell line and the effect of tyrosine kinase kit mutant on the main KIT-regulated signal transduction pathways
15618926 c-kit expression may be an early event in the transformation of Merkel cell carcinoma, but not a marker for tumor progression.
12666065 c-kit+ cells were found in glomeruli and interstitium. Colocalization of CD34+ and c-kit+ was seen in some rounded interstitial and spindle-shaped cells. This shows potential involvement of SCF/c-kit in crescentic glomerulonephritis.
12824871 Mutations of the c-kit gene is associated with testicular germ cell tumors
15780567 KIT gene was expressed in 6/7 chromophobe RCCs and 7/8 oncocytomas while 0/15 clear cell RCCs and 1/15 papillary RCCs expressed kit gene.
16082245 REVIEW of KIT-positive neoplasms and disruption of KIT-dependent functions caused by KIT deficiency due to hereditary nonsense/missense mutations
16143141 Familial gastrointestinal stromal tumors and mastocytosis caused by a germline mutation in KIT.
16445822 KIT protein was diffusely and weakly expressed, but DNA analysis revealed no mutational change in exon 9 or 11 of the c-kit gene.
16842246 KIT mutations involving exons 11 or 9 were identified in 22 (88%) of gastrointestinal stromal tumours (GISTs) and none of the non-GISTs
17337216 The expression of KIT protein in normal human skin suggests its possible role in regulation of cutaneous development and function.
12598308 Point mutation may be associated with urticaria pigmentosa in children.
12759497 gain-of-function mutation in exon 11 of the c-kit gene is an important prognostic factor for gastrointestinal mesenchymal tumors, including myogenic and neurogenic tumors as well as GISTs
15363457 mutations of specific residues located in the activation loop (D835X and 836-deletion in Flt-3; D816V in c-Kit) as well as a 6-base pair (6-bp) insertion at residue 840 in Flt-3 operate in a similar way
15617841 c-kit expression may be a good prognostic indicator for HCC.
15795882 Homozygous point mutation in c-KIT exon 9, codon 456 in pediatric gastrointestinal stromal tumor.
16188233 The KIT-phosphatidylinositol 3-kinase-Akt protein pathway is constitutively activated in testicular germ cell tumors, due to overexpression of KIT protein and/or gain-of-function mutations in the c-kit gene.
15337769 induction of Slug by autocrine production of SCF and c-Kit activation plays a key role in chemoresistance of malignant mesothelioma
12204004 Mutations were not detected in over 100 normal individuals and are likely to be the cause of piebaldism in our subjects.
12444928 Data show that the adapter protein APS preferentially associates with phosphorylated Tyr-568 and Tyr-936 of the receptor for stem-cell factor (c-Kit).
14745431 results confirm the high frequency of BCR-ABL kinase domain mutations in patients with secondary resistance to imatinib and exclude mutations of the activation loops of KIT, PDGFRA and PDGFRB as causes of resistance in patients without ABL mutations
14625290 surface expression of c-Kit is regulated by TACE, which controls mast cell survival
12511554 KIT isoforms have remarkable differences in their signaling capabilities
15224284 Kit mutatation is associated with gastrointestinal mesenchymal tumors.
16357008 describes frequence mutation of PDGFRA in malignant periphaerl nerve sheath tumors often associated with coamplification of KIT
16773696 Activated mutations of kit exon 11 are detectable in the vast majority of gastrointestinal stromal tumor (GISTs). There is no difference in the PR rate for patients whose GISTs have kit exon 9 and exon 11 mutations.
16785193 Gastrointestinal stromal tumours (GIST) with platelet-derived growth factor receptor mutations often have reduced expression of the KIT protein in immunohistochemistry (IHC), suggesting that IHC may be potentially useful in identification of such GISTs.
16840725 identified a tandem repeat involving exons 11 and 12 in childhood AML that induces cell proliferation, and identified constituitively activated pathways and proteins phosphorylated
17298867 c-kit activating mutations are not coincident with KIT protein expression in Ewing sarcoma in most samples
17289809 A potential role of the c-Kit/mbKitL interaction in pathological settings is sustained by the expression of the membrane-bound KitL on endothelial cells lining intraplaque neovessels.
11825908 Phosphatidylinositol 3-kinase and Src family kinases are required for phosphorylation and membrane recruitment of Dok-1 in c-Kit signaling.
14647465 tr-kit promotes the formation of a multimolecular complex composed of Fyn, PLCgamma1 and Sam68, which allows phosphorylation of PLCgamma1 by Fyn, and may modulate RNA metabolism.
14724587 kit expression likely identifies a subset of neuroblastomas with conserved capacity for differentiation, which may represent the embryonal variety of the disease
12041664 REVIEW: Signal transduction though the KIT pathway in mast cells and involvement in MC activation and mediator release.
15033665 c-KIT is expressed in ovarian carcinoma and it is statistically correlated with chemotherapy resistance.
12485499 c-kit gene mutation may play a significant role in the pathogenesis of GIST and also may be a prognostic marker.
15471556 c-kit gene mutations is associated with intracranial germinomas
16320053 CD117 is expressed in Thai adult patients with acute myeloid leukemia
16426921 findings suggest that the expression of c-KIT protein might define a subset of poorly differentiated, HER-2-positive ductal carcinoma in situ of the breast with decreased expression of steroid hormone receptors, comedonecrosis, and a solid growth pattern
16551858 Results show that the identification of newly acquired KIT mutations in addition to the primary mutation is dependent on the number of tissue samples analyzed and has high implications for further therapeutic strategies.
16623778 Approximately one-third of plasma cell myeloma express high levels of c-kit.
16760463 receptors alphaGMR and c-Kit could interact to coordinate their signal initiation; alphaGMR inhibited c-Kit auto-phosphorylation induced by the ligand stem cell factor
17072721 Patients with an exon 11 mutation of the c-kit gene are reported to have a high response to STI571 (imatinib mesylate, Glivec).
17124503 a kit mutation may have a role in survival or proliferation of melanocytes from patients with piebaldism
14657715 c-kit overexpression observed in a subset of colorectal neuroendocrine carcinomas may not be mediated via activating mutations, and does not appear to be an initiating event during tumorigenesis
15685537 High sensitivity of the imatinib-resistant KIT -T670I and KIT -V654A and of PDGFRA -D842V mutants to PKC412 in gastrointestinal stromal tumors.
15791568 study demonstrates that platelet-derived growth factor receptor alpha and beta, and c-kit protein are expressed in a high percentage of epithelial ovarian cancers
15791570 found a significant elevation of c-kit protein messenger RNA and protein overexpression not only in chromophobe renal cell carcinomas but also in oncocytomas
15897742 The point mutations of c-kit and platelet- derived growth factor receptor alpha genes may play a limited role in the tumorigenesis of type 1 neurofibromatosis-associated gastrointestinal stromal tumors.
16271084 CD117 expression can be detected sporadically in DLBCL (diffuse large B-cell lymphoma) of follicle center-cell origin and a subset of plasmablastic lymphomas.
12457234 Fibroblat-like cells lacking this protein express SK3 in smooth gut muscle in health and dissease.
12111653 Asn(822)-Lys mutation affecting a highly conserved codon within the tyrosine kinase activation loop leading to constitutive ligand-independent activation of the KIT receptor was identified in the Kasumi-1 cell
15161681 gastrointestinal stromal tumors have distinct kit expression depending on genotype and tumor location
15512818 CD117 is expressed on plasma cells in monoclonal gammopathies
12091362 Evidence for the involvement of a hematopoietic progenitor cell in systemic mastocytosis from single-cell analysis of mutations in the c-kit gene.
12592353 Point mutations in c-Kit in core binding factor leukemias correlate with white blood cell count and the white blood cell index
15112348 Data show that c-kit gene mutations occur preferentially in malignant gastrointestinal stromal tumors and might be a clinically useful adjunct marker in their evaluation.
11642722 a tumor marker for cardiac myxoma
12522257 KIT and PDGFRA mutations appear to be alternative and mutually exclusive oncogenic mechanisms in gastrointestinal stromal tumors
14654075 findings of co-expression of KIT and/or FMS with their respective ligands implies these receptors might contribute to leukemogenesis in some patients with AML through autocrine, paracrine, or intracrine interactive stimulation.
15869870 KIT overexpression in GISTs is rarely related to a gene amplification.
16784237 putative quadruplex forming 21-nucleotide sequence upstream of the c-kit transcription initiation site (c-kit21), on the G-rich strand, which occupies a site required for core promoter activity. c-kit21 forms quadruplexes under physiological conditions.
16905672 Our data indicate that the KIT/KITLG system may be involved in a low sperm count trait in humans.
17060458 intracellular, non-plasma membrane receptor signaling is sufficient to drive neoplasia caused by mutant c-KIT
11919394 role of c-KIT mutations in the biology of mast cell malignancies
15145934 acquisition of autonomous growth during uveal melanoma progression may involve the SCF/c-Kit axis
15044924 In mammary phyllodes tumors, there was increasing c-kit expression with increasing degree of malignancy.
12172985 c-Kit-expressing Ewing tumor cells are resistant to imatinib mesylate.
15194144 These six new mutations are associated with phenotypes that are well in accordance with our knowledge of genotype-phenotype correlations in KIT.
15234225 Human vascular smooth muscle cells (SMCs) express stem cell factor (SCF) and its receptor, c-kit. SCF/c-kit signaling may affect SMC function via an autocrine pathway.
11786393 The complexity of KIT gene mutations and chromosome rearrangements and their clinical correlation in gastrointestinal stromal (pacemaker cell) tumors.
16373964 activating mutations of PDGFR-alpha, c-kit and B-RAF are absent in gliosarcomas
16460801 7 out of 20 patients carried missense mutations in the c-Kit gene in polycythemia vera whereas no sequence variation was detected in 15 healthy controls.
16479070 Only one case (1/13, 7.7%) of serous cystadenocarcinoma had positive staining, and no mutation was identified at exon 11.
16597595 rapamycin induction of apoptosis appears specific to the C-Kit D816V mutation in systemic mastocytosis
17119051 fragile histidine triad and c-kit have roles in progression of fragile histidine triad and c-kit
17487541 These findings indicate that KIT-ht3 may be a useful genetic marker for osteoporosis and that KIT may have a role on bone metabolism in humans.
15725473 Capability of Imatinib to induce an anti-leukemic effect in Core Binding Factor (CBF)-leukemia patients with KIT mutation.
12072198 all classes of interstitial cells of Cajal express CD117, thus it serves as a marker for gastrointestinal stromal tumors (GIST) derived from these cells; mutations in CD117 or aberrations of chromosome 4 are often found in GIST - review

 

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