Cutaneous Mastocytosis
|
0.680 |
GeneticVariation
|
disease |
BEFREE |
Evaluation of peripheral c-KIT mutation had no diagnostic contribution among pediatric patients with CM in contrast to adults.
|
30819282 |
2019 |
Cutaneous Mastocytosis
|
0.680 |
GeneticVariation
|
disease |
BEFREE |
We propose considering the KIT mutation status and bone marrow tryptase levels to aid the diagnosis of isolated CM in adult mastocytosis patients.
|
31009132 |
2019 |
Cutaneous Mastocytosis
|
0.680 |
GeneticVariation
|
disease |
BEFREE |
Somatic activating mutations in the mast cell growth factor KIT gene cause cutaneous mastocytosis in young children and systemic mastocytosis with a more guarded prognosis in adults who may also harbor other gene mutations with oncogenic potential as they age.
|
30390314 |
2019 |
Cutaneous Mastocytosis
|
0.680 |
GeneticVariation
|
disease |
BEFREE |
Detection of KIT D816V in peripheral blood of children with manifestations of cutaneous mastocytosis suggests systemic disease.
|
30488427 |
2018 |
Cutaneous Mastocytosis
|
0.680 |
GeneticVariation
|
disease |
BEFREE |
No significant association between evolution and KIT mutation or between evolution and type of cutaneous mastocytosis was found.
|
29787623 |
2018 |
Cutaneous Mastocytosis
|
0.680 |
GeneticVariation
|
disease |
UNIPROT |
A new germline mutation in KIT associated with diffuse cutaneous mastocytosis in a Chinese family.
|
24289326 |
2014 |
Cutaneous Mastocytosis
|
0.680 |
GeneticVariation
|
disease |
BEFREE |
KIT mutations have been described in more than 80% of SM, but only in the minority of cutaneous mastocytoses (CM).
|
23666690 |
2013 |
Cutaneous Mastocytosis
|
0.680 |
GeneticVariation
|
disease |
BEFREE |
Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis.
|
21689725 |
2011 |
Cutaneous Mastocytosis
|
0.680 |
GeneticVariation
|
disease |
UNIPROT |
Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis.
|
21689725 |
2011 |
Cutaneous Mastocytosis
|
0.680 |
GeneticVariation
|
disease |
UNIPROT |
Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations.
|
19865100 |
2010 |
Cutaneous Mastocytosis
|
0.680 |
GeneticVariation
|
disease |
BEFREE |
C-kit receptor mutations have been identified as causative for CM, some of which potentially respond to imatinib treatment as described for patients with systemic mastocytosis.
|
18567837 |
2008 |
Cutaneous Mastocytosis
|
0.680 |
GeneticVariation
|
disease |
UNIPROT |
A germline mutation in KIT in familial diffuse cutaneous mastocytosis.
|
15173254 |
2004 |
Cutaneous Mastocytosis
|
0.680 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis.
|
9990072 |
1999 |
Cutaneous Mastocytosis
|
0.680 |
GeneticVariation
|
disease |
UNIPROT |
Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis.
|
9990072 |
1999 |
Cutaneous Mastocytosis
|
0.680 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism.
|
1370874 |
1992 |
Cutaneous Mastocytosis
|
0.680 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Cutaneous Mastocytosis
|
0.680 |
Biomarker
|
disease |
HPO |
|
|
|
Cutaneous Mastocytosis
|
0.680 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|