|
Mastocytosis
|
1.000 |
CausalMutation
|
disease |
CGI |
|
|
|
|
Mastocytosis
|
1.000 |
Biomarker
|
disease |
MGD |
|
|
|
|
Mastocytosis
|
1.000 |
Biomarker
|
disease |
HPO |
|
|
|
|
Mastocytosis
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Mastocytosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mastocytosis in mice expressing human Kit receptor with the activating Asp816Val mutation.
|
16352739 |
2005 |
|
Mastocytosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mastocytosis is associated with an activating mutation in the KIT oncoprotein (KITD816V) that results in autophosphorylation of the KIT receptor in a ligand-independent manner.
|
16434489 |
2006 |
|
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 |
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: a mutated KIT receptor induced myeloproliferative disorder.
|
26158763 |
2015 |
|
Mastocytosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
KIT mutation in mast cells and other bone marrow hematopoietic cell lineages in systemic mast cell disorders: a prospective study of the Spanish Network on Mastocytosis (REMA) in a series of 113 patients.
|
16741248 |
2006 |
|
Mastocytosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Activating mutations in KIT are common in gastrointestinal stromal tumors and mastocytosis.
|
14695343 |
2004 |
|
Mastocytosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Activating mutations in KIT lead to the dysregulated mast cell growth associated with the myeloproliferative disorder, mastocytosis.
|
20100931 |
2010 |
|
Mastocytosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Activating mutations in KIT play an important role in diagnosis and prognosis of multiple malignancies including mastocytosis, gastrointestinal stromal tumors, and a subset of melanoma and acute myeloid leukemia.
|
27258816 |
2016 |
|
Mastocytosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Activating mutations of the tyrosine kinase receptor KIT have been described in both mastocytosis and gastrointestinal stromal tumors (GIST), but are usually found in separate domains and often respond differently to signal transduction inhibitors.
|
31109590 |
2019 |
|
Mastocytosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Activation of the KIT tyrosine kinase by somatic mutation has been documented in a number of human malignancies, including gastrointestinal stromal tumor (GIST), seminoma, acute myelogenous leukemia (AML), and mastocytosis.
|
11896121 |
2002 |
|
Mastocytosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Acute myeloid leukemia with t(8;21)(q22;q22.1)/RUNX1-RUNX1T1 and KIT Exon 8 mutation is associated with characteristic mastocytosis and dismal outcomes.
|
31004601 |
2019 |
|
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 |
Although APcK110 activity may partly depend on cytokine responsiveness (e.g., SCF) and not exclusively KIT mutation status, it remains a potent inhibitor of AML and mastocytosis cell lines and primary AML samples.
|
19383925 |
2009 |
|
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 |
Although the initial events leading to mastocytosis are not yet unraveled, alterations of the c-kit gene have been described.
|
10670573 |
2000 |
|
Mastocytosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
At the molecular level, recent studies have reinforced the role of activating mutations in KIT in the etiology of mastocytosis.
|
11964726 |
2001 |
|
Mastocytosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Because KIT mutations may not act as fully transforming oncogenic events in SM, it is prudent to evaluate combinations of TK inhibitors with drugs with activity in mast cell disease, such as cladribine, interferon-alpha, and corticosteroids.
|
16931294 |
2006 |
|
Mastocytosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
CEACAM1 knockdown upregulated cell growth of HMC1.2 cells harboring KIT mutations detected in clinical mastocytosis, whereas downregulated the growth of TT cells harboring RET mutations detected in clinical MTCs.
|
28332308 |
2017 |
|
Mastocytosis
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Chronic myelogenous leukemia with acquired c-kit activating mutation and transient bone marrow mastocytosis.
|
15167915 |
2004 |
|
Mastocytosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Combination of KIT gene silencing and tocopherol succinate may offer improved therapeutic approaches for human mastocytosis.
|
19804454 |
2010 |