Advances in molecular genetic sequencing techniques have contributed to the elucidation of
previously unknown germline mutations responsible for inherited thrombocytopenia (IT) …

Platelets play a critical role in hemostasis and thrombus formation. Platelets are small,
anucleate, and short-lived blood cells that are produced by the large, polyploid, and …

FPD/AML is a familial platelet disorder characterized by platelet defects, predisposition to
acute myelogenous leukemia (AML) and germ-line heterozygous RUNX1 alterations. Here …

Platelet granules contribute to many aspects of host defense, including hemostasis and
thrombosis, inflammation, angiogenesis, and wound healing. These granules store high …

Transcription factors (TFs) are proteins that bind to specific DNA sequences and regulate
expression of genes. The molecular and genetic mechanisms in most patients with inherited …

To identify novel causes of hereditary thrombocytopenia, we performed a genetic
association analysis of whole-genome sequencing data from 13 037 individuals enrolled in …

Recent years have seen increasing recognition of a subgroup of inherited platelet function
disorders which are due to defects in transcription factors that are required to regulate …

Megakaryocytes (MKs) in adult marrow produce platelets that play important roles in blood
coagulation and hemostasis. Monoallelic mutations of the master transcription factor gene …

Transcription factor RUNX1 is a master regulator of hematopoiesis and megakaryopoiesis.
RUNX1 haplodeficiency (RHD) is associated with thrombocytopenia and platelet granule …

Following injury to the blood vessel, platelets adhere to exposed subendothelium by a
process (adhesion) that involves, among other events, the interaction of a plasma protein …