|
Mastocytosis
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Mastocytosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Molecular defects in mastocytosis: KIT and beyond KIT.
|
24745672 |
2014 |
|
Mastocytosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The M541L KIT substitution (KIT(M541L)) has been described to be associated with pediatric mastocytosis, to enhance growth rate of the affected cells and to confer higher sensitivity to imatinib therapy.
|
25015329 |
2014 |
|
Mastocytosis
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Mastocytosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We demonstrate for the first time that by using a sufficiently sensitive KIT D816V mutation analysis, it is possible to detect the mutation in PB in nearly all adult mastocytosis patients.
|
24443360 |
2014 |
|
Mastocytosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Loss of function of TET2 cooperates with constitutively active KIT in murine and human models of mastocytosis.
|
24788138 |
2014 |
|
Mastocytosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Drugs targeting KIT have shown mixed success in the treatment of mastocytosis and other hyperproliferative diseases.
|
24745671 |
2014 |
|
Mastocytosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mastocytosis are myeloproliferative neoplasms commonly related to gain-of-function mutations involving the tyrosine kinase domain of KIT.
|
25139846 |
2014 |
|
Mastocytosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mastocytosis associated with a rare germline KIT K509I mutation displays a well-differentiated mast cell phenotype.
|
24582309 |
2014 |
|
Mastocytosis
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Mastocytosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Most patients with mastocytosis have transformed mast cells carrying an activating point mutation at codon 816 of KIT and also show an elevated serum tryptase level.
|
24745676 |
2014 |
|
Mastocytosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Many mast cell diseases are associated with aberrancy of c-KIT proto-oncogene resulting in tyrosine kinase activity, typically exhibiting point mutation in codon 816.
|
23211696 |
2013 |
|
Mastocytosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
However, we have previously published a report on a KIT exon 8 germline mutation, which was associated with familial GIST and mastocytosis.
|
23599150 |
2013 |
|
Mastocytosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Thus, identifying and inhibiting the signalling pathways associated with mutated KIT gene offers a potentially important strategy for the treatment of mastocytosis.
|
23777495 |
2013 |
|
Mastocytosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Migration of CD117+ progenitor cells from the blood was enhanced toward NGF-β gradient in both mastocytosis and controls.
|
23869086 |
2013 |
|
Mastocytosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations within various domains of the KIT receptor that lead to constitutive activation have been identified in patients, and those involving the activation loop of the KIT receptor are the mutations most frequently detected in patients with mastocytosis.
|
23181448 |
2013 |
|
Mastocytosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recently a duplication of Ser501Ala502 (KIT-Dup-Ser501Ala502) at exon 9 has been reported in two cases of pediatric mastocytosis and one case of adult mast cell leukemia.
|
23459373 |
2013 |
|
Mastocytosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Although a role for oncogenic KIT in driving mast cell disease is clear, the mechanisms driving the multiple phenotypic and clinical manifestations of this disorder are not well elucidated.
|
23074272 |
2012 |
|
Mastocytosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Her AML was refractory to chemotherapy, and bone marrow mastocytosis developed simultaneously at the initial diagnosis and during chemotherapy.The D816A mutation of KIT was detected.
|
22847983 |
2012 |
|
Mastocytosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We generated a Cre/loxP-based bacterial artificial chromosome transgenic mouse model that allows conditional expression of a kit gene carrying the kitD814V mutation (the murine homolog of the most common mutation in human mastocytosis, kitD816V) driven by the kit promoter.
|
21148330 |
2011 |
|
Mastocytosis
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Mastocytosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the c-kit gene occur in the vast majority of mastocytosis.
|
21135090 |
2011 |
|
Mastocytosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Combination of KIT gene silencing and tocopherol succinate may offer improved therapeutic approaches for human mastocytosis.
|
19804454 |
2010 |
|
Mastocytosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
High frequency of concomitant mastocytosis in patients with acute myeloid leukemia exhibiting the transforming KIT mutation D816V.
|
20471335 |
2010 |
|
Mastocytosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Pediatric mastocytosis is often transient, and the molecular mechanism driving mast cell proliferation in pediatric cases remains unclear.In this issue, Bodemer et al. report novel c-KIT mutations in a large percentage of pediatric cases, identifying both similarities and fundamental differences in the mechanisms causing adult and pediatric mastocytosis.
|
20145643 |
2010 |