Megakaryocytes are hematopoietic cells, which are responsible for the production of blood
platelets. The traditional view of megakaryopoiesis describes the cellular journey from …

Familial cases of myelodysplastic syndromes are rare, but are immensely valuable for the
investigation of the molecular pathogenesis of myelodysplasia in general. The best …

Standardized variant curation is essential for clinical care recommendations for patients with
inherited disorders. Clinical Genome Resource (ClinGen) variant curation expert panels are …

Megakaryocytes are unique mammalian cells that undergo polyploidization (endomitosis)
during differentiation, leading to an increase in cell size and protein production that …

Germline testing for familial predisposition to myeloid malignancies is becoming more
common with the recognition of multiple familial syndromes. Currently, Clinical Laboratory …

Myeloid malignancies associated with germline predisposition syndromes account for up to
10% of myeloid neoplasms. They are classified into three categories by the proposed 5th …

RUNX1 is a critical transcription factor for the emergence of definitive hematopoiesis and the
precise regulation of adult hematopoiesis. Dysregulation of its regulatory network causes …

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

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

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 …