Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.7.10.1 (ERK)
 95,504 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Diffuse cutaneous mastocytosis is a less common but potentially life-threatening variant of childhood mastocytosis. Here we report 2 children with diffuse cutaneous mastocytosis in whom an activating somatic KIT mutation was detected. Treatment with imatinib, a KIT inhibitor, resulted in resolution of the lesions and were well tolerated by the patients.
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PMID:Imatinib mesylate in the treatment of diffuse cutaneous mastocytosis. 2306 94

Diffuse cutaneous mastocytosis (DCM) is an extremely rare disease characterized by massive proliferation of mast cells infiltrating the entire skin. We report a Chinese family with indolent DCM, and detection of a new germline KIT mutation located in the fifth immunoglobulin-like loop of the KIT protein, which probably results in a gain-of-function effect and consequent overactivation of mast cells. Our report expands the knowledge of correlations between the genotype of KIT mutations and the phenotype of DCM.
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PMID:A new germline mutation in KIT associated with diffuse cutaneous mastocytosis in a Chinese family. 2428 26

Diffuse cutaneous mastocytosis is a rare variant of mastocytosis in the neonatal period. We describe a case of c-KIT (DV) mutation-positive fatal diffuse cutaneous mastocytosis with systemic involvement of the gastrointestinal tract and associated malabsorption and hepatosplenomegaly associated with mast cell mediator release symptoms.
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PMID:c-KIT-Positive Fatal Diffuse Cutaneous Mastocytosis With Systemic Manifestations in a Neonate. 3006 57