Article
ETV6 germline mutations cause HDAC3/NCOR2 mislocalization and upregulation of interferon response genes.
JCI insight - 17 Sept 2020
Fisher Marlie H, Kirkpatrick Gregory D, Stevens Brett, Jones Courtney, Callaghan Michael, Rajpurkar Madhvi, Fulbright Joy, Cooper Megan A, Rowley Jesse, Porter Christopher C, Gutierrez-Hartmann Arthur, Jones Kenneth, Jordan Craig, Pietras Eric M, Di Paola Jorge
Abstract excerpt
ETV6 is an ETS family transcription factor that plays a key role in hematopoiesis and megakaryocyte development. Our group and others have identified germline mutations in ETV6 resulting in autosomal dominant thrombocytopenia and predisposition to malignancy; however, molecular mechanisms defining the role of ETV6 in megakaryocyte development have not been well established. Using a combination of molecular,...
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