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 …

Highlights•Germline and acquired RUNX1 mutations are associated with FPD and
MDS/AML.•Large deletions and nonsense mutations are more common in germline FPD …

The majority of RUNX1 mutations in acute myeloid leukemia (AML) are missense or deletion-
truncation and behave as loss-of-function mutations. Following standard therapy, AML …

Erythropoietin (EPO) plays a key role in energy metabolism, with EPO receptor (EpoR)
expression in white adipose tissue (WAT) mediating its metabolic activity. Here, we show …

Genetic alterations in the RUNX1 gene are associated with benign and malignant blood
disorders, particularly of megakaryocyte and myeloid lineages. The role of RUNX1 in acute …

Platelets are generated and released into the bloodstream from their precursor cells,
megakaryocytes that reside in the bone marrow. Though platelets have no nucleus or DNA …

Many transcription factors (TFs) function as tumor suppressor genes with heterozygous
phenotypes, yet haploinsufficiency generally has an underappreciated role in neoplasia …

Heterozygous defects in runt-related transcription factor 1 (RUNX1) are causative of a
familial platelet disorder with associated myeloid malignancy (FPDMM). Because RUNX1 …

Transcription factors bind promoter or regulatory sequences of a gene to regulate its rate of
transcription. However, they are also detected in anucleated platelets. The transcription …

Mutations in the epigenetic regulator Additional Sex Combs-Like 1 (ASXL1) are frequently
observed in chronic neutrophilic leukemia (CNL). CNL is a myeloproliferative neoplasm …