Article
Platelet protein kinase C-theta deficiency with human RUNX1 mutation: PRKCQ is a transcriptional target of RUNX1.
Arteriosclerosis, thrombosis, and vascular biology - 1 Apr 2011
Jalagadugula Gauthami, Mao Guangfen, Kaur Gurpreet, Dhanasekaran Danny N, Rao A Koneti
Abstract excerpt
OBJECTIVE: Mutations in the hematopoietic transcription factor RUNX1 cause thrombocytopenia and impaired platelet function. In a patient with a heterozygous mutation in RUNX1, we have described decreased platelet pleckstrin phosphorylation and protein kinase C- (PKC-, gene PRKCQ) associated with thrombocytopenia, impaired platelet aggregation, and dense granule secretion. Little is known regarding regulation of...
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