|
rs121913507
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The identification of the point mutation Asp816Val in c-kit in patients with mastocytosis with an associated hematologic disorder provides insight not only into the pathogenesis of this form of mastocytosis but also into how hematopoiesis may become dysregulated and may serve to provide a means of confirming the diagnosis, assessing prognosis, and developing intervention strategies.
|
7479840 |
1995 |
|
rs121913682
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The identification of the point mutation Asp816Val in c-kit in patients with mastocytosis with an associated hematologic disorder provides insight not only into the pathogenesis of this form of mastocytosis but also into how hematopoiesis may become dysregulated and may serve to provide a means of confirming the diagnosis, assessing prognosis, and developing intervention strategies.
|
7479840 |
1995 |
|
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 |
|
rs121913682
|
|
|
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 |
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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 |
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rs121913682
|
|
|
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 |
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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 |
|
rs121913682
|
|
|
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 |
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 |
|
rs121913682
|
|
|
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 |
|
rs1801275
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These data suggest that the Q576R IL-4R alpha- chain polymorphism may mitigate disease expression and confer a better prognosis in patients with mastocytosis.(Blood.2001;98:880-882)
|
11468192 |
2001 |
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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 |
|
rs121913682
|
|
|
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 |
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 |
|
rs121913682
|
|
|
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 |
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 |
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 |
Sensitive detection of KIT D816V in patients with mastocytosis.
|
17040960 |
2006 |
|
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 |
|
rs121913682
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Sensitive detection of KIT D816V in patients with mastocytosis.
|
17040960 |
2006 |
|
rs121913682
|
|
|
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 |
|
rs121913682
|
|
|
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 |
|
rs121913682
|
|
|
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 |
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 |
|
rs121913682
|
|
|
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 |