|
rs121913507
|
|
|
0.100 |
GeneticVariation |
BEFREE |
To conclude, the KIT D816V burden correlates with the variant of mastocytosis, predicts survival, and is a valuable follow-up parameter in SM.
|
24750133 |
2014 |
|
rs121913507
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We report that a disease with striking similarities to human mastocytosis develops spontaneously in transgenic mice expressing the human Asp816Val mutant Kit protooncogene specifically in MCs.
|
16352739 |
2005 |
|
rs121913507
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Our study thus supports a role for mast cells and D816V-KIT activity in IL-6 dysregulation in mastocytosis and provides insights into the intracellular mechanisms.
|
30948489 |
2020 |
|
rs121913507
|
|
|
0.100 |
GeneticVariation |
BEFREE |
High frequency of concomitant mastocytosis in patients with acute myeloid leukemia exhibiting the transforming KIT mutation D816V.
|
20471335 |
2010 |
|
rs121913507
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The use of allele-specific quantitative polymerase chain reaction to identify KIT D816V in the peripheral blood of adults with mastocytosis has been reported to have value in the diagnosis, assessment of disease burden and management of this disease.
|
30488427 |
2018 |
|
rs121913507
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Germline KIT mutations associated with mastocytosis drive a well-differentiated mast cell phenotype distinct to that of somatic KIT D816V disease, the oncogenic potential of which might be influenced by SCF and selective KIT splicing.
|
24582309 |
2014 |
|
rs121913507
|
|
|
0.100 |
GeneticVariation |
BEFREE |
There were no amplifications among 64 KIT wild-type tumors and cell lines, whereas all D816V-mutant samples (eight AML and 11 mast cell disease) were positive.
|
17065430 |
2006 |
|
rs121913507
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We established an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells of a Chinese neonate with mastocytosis carrying heterozygous mutation (c.2447A > T (p.D816V)) in KIT gene by episomal vector (EV) reprogramming system.
|
31522012 |
2019 |
|
rs121913507
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Twenty-five percent of all patients with mastocytosis had the Asp816Val mutation in PBMCs; 56% of these patients had evidence of a myelodysplastic or myeloproliferative syndrome, and 44% had been clinically placed in the indolent mastocytosis category, suggesting that the current classification scheme used to assign prognosis may be inadequate.
|
9827716 |
1998 |
|
rs121913507
|
|
|
0.100 |
GeneticVariation |
BEFREE |
For those malignancies associated with KIT mutation or over-expression, imatinib offers a specific therapeutic option, yet it has no effect on D816V mutation commonly seen in sporadic mastocytosis.
|
16183119 |
2006 |
|
rs121913507
|
|
|
0.100 |
GeneticVariation |
BEFREE |
These results demonstrate that the D816V Kit mutation enhances chemotaxis of CD117(+) cells, offering one explanation for increased mast cells observed in tissues of patients with mastocytosis.(Blood.2001;98:1195-1199)
|
11493470 |
2001 |
|
rs121913507
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations.
|
19865100 |
2010 |
|
rs121913507
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Substitution of valine (Val) for aspartic acid (Asp) at codon 814 constitutively activates murine c-kit receptor tyrosine kinase (KIT), and Asp816Val mutation, corresponding to murine Asp814Val mutation, is found in patients with mastocytosis and acute myelocytic leukemia.
|
12393643 |
2003 |
|
rs121913507
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Although the KIT D816V mutation is typically found in adult-onset mastocytosis, it is less commonly seen in childhood-onset mastocytosis, and the frequency of KIT mutations in paediatric solitary mastocytoma is poorly documented.
|
24128084 |
2014 |
|
rs121913507
|
|
|
0.100 |
GeneticVariation |
BEFREE |
One activating Kit mutation substitutes a valine for aspartic acid at codon 816 (D816V) and is frequently observed in human mastocytosis.
|
8962111 |
1996 |
|
rs121913507
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Distinct signalling pathways for mutated KIT(V560G) and KIT(D816V) in mastocytosis.
|
23777495 |
2013 |
|
rs121913507
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Sensitive detection of KIT D816V in patients with mastocytosis.
|
17040960 |
2006 |
|
rs121913507
|
|
|
0.100 |
GeneticVariation |
BEFREE |
ROSA(KIT D816V) may provide a valuable tool for studying the pathogenesis of mastocytosis and should facilitate the development of novel drugs for treating SM patients.
|
24677542 |
2014 |
|
rs121913507
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The reason for this decreased sensitivity to TKIs is related to the resistance of the D816V variant of c-KIT, found in the majority of patients with mastocytosis.
|
22204765 |
2011 |
|
rs121913507
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Analysis of the surface expression of c-kit and occurrence of the c-kit Asp816Val activating mutation in T cells, B cells, and myelomonocytic cells in patients with mastocytosis.
|
10706069 |
2000 |
|
rs121913507
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Most patients with mastocytosis exhibit the D816V point mutation in the tyrosine kinase domain of the transmembrane receptor protein Kit, leading to its constitutive activation in bone marrow or lesional skin tissue.
|
16931579 |
2006 |
|
rs121913507
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The findings also suggest that targeting the SPHK/S1P axis may provide an alternative to tyrosine kinase inhibitors, alone or in combination, for the treatment of aggressive mastocytosis and other hematological malignancies associated with the D816V-KIT mutation.
|
29643855 |
2018 |
|
rs121913507
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Together, the biologic effects of KIT D816V in BaF3 cells match strikingly with the clinical course of indolent systemic mastocytosis and with our recently established transgenic mouse model, in which KIT D816V induces indolent mast cell accumulations but usually does not induce a malignant mast cell disease.
|
18390729 |
2008 |
|
rs121913507
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Recent data suggest that mutations in the c-kit proto-oncogene are causative of mastocytosis not only in adults but in children and familial cases as well; however, mutation analysis other than D816V is not widely available, making detection of causative mutations problematic.
|
22892471 |
2013 |
|
rs121913507
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Whereas in pediatric mastocytosis, which is usually confined to the skin, a number of different KIT mutations and other defects may be detected, the KIT mutation D816V is detectable in most (adult) patients with SM.
|
21083038 |
2010 |