title: Spotlight on FLI1, RUNX1, and platelet dysfunction.
abstract: In this issue of Blood, Stockley et al describe mutations in FLI1 and RUNX1, identified by next-generation sequencing (NGS) studies, in 6 of 13 patients with excessive bleeding and impaired platelet dense granule secretion, and highlight transcription factor (TF) mutations as an important mechanism for inherited platelet dysfunction.
authors: TEMPLE UNIVERSITY SCHOOL OF MEDICINE.
authors: A Koneti
authors: AK
authors: Rao
mesh_terms: D001792:Blood Platelets; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics*; D005260:Female; D006470:Hemorrhage / Q000235:genetics*; D006801:Humans; D008297:Male; D051789:Proto-Oncogene Protein c-fli-1 / Q000235:genetics*; D055571:Secretory Pathway / Q000235:genetics*; D022142:Secretory Vesicles / Q000235:genetics*; D013921:Thrombocytopenia / Q000235:genetics*
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; C078433:FLI1 protein, human; D051789:Proto-Oncogene Protein c-fli-1