Hematopoietic transcription factor mutations and inherited platelet dysfunction
Open Access
- 26 May 2015
- journal article
- review article
- Published by H1 Connect in F1000Prime Reports
- Vol. 7 (66), 66
- https://doi.org/10.12703/p7-66
Abstract
The molecular and genetic mechanisms in most patients with inherited platelet dysfunction are unknown. There is increasing evidence that mutations in hematopoietic transcription factors are major players in the pathogenesis of defective megakaryopoiesis and platelet dysfunction in patients with inherited platelet disorders. These hematopoietic transcription factors include RUNX1, FLI1, GATA-1, and GFI1B. Mutations involving these transcription factors affect diverse aspects of platelet production and function at the genetic and molecular levels, culminating in clinical manifestations of thrombocytopenia and platelet dysfunction. This review focuses on these hematopoietic transcription factors in the pathobiology of inherited platelet dysfunction.This publication has 46 references indexed in Scilit:
- Targeted correction of RUNX1 mutation in FPD patient-specific induced pluripotent stem cells rescues megakaryopoietic defectsBlood, 2014
- Mechanisms underlying platelet function defect in a pedigree with familial platelet disorder with a predisposition to acute myelogenous leukemia: potential role for candidate RUNX1 targetsJournal of Thrombosis and Haemostasis, 2014
- Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defectsBlood, 2013
- Inherited Platelet Function DisordersHematology/Oncology Clinics of North America, 2013
- Familial myelodysplastic syndromes: a review of the literatureHaematologica, 2011
- Genome-wide Analysis of Simultaneous GATA1/2, RUNX1, FLI1, and SCL Binding in Megakaryocytes Identifies Hematopoietic RegulatorsDevelopmental Cell, 2011
- Normal and transforming functions of RUNX1: A perspectiveJournal of Cellular Physiology, 2006
- In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesisBlood, 2002
- Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemiaNature Genetics, 1999
- Disruption of the Cbfa2 gene causes necrosis and hemorrhaging in the central nervous system and blocks definitive hematopoiesis.Proceedings of the National Academy of Sciences of the United States of America, 1996