Gene editing rescue of a novel MPL mutant associated with congenital amegakaryocytic thrombocytopenia.
Sign Up to like & getrecommendations! Published in 2017 at "Blood advances"
DOI: 10.1182/bloodadvances.2016002915
Abstract: Thrombopoietin (Tpo) and its receptor (Mpl) are the principal regulators of early and late thrombopoiesis and hematopoietic stem cell maintenance. Mutations in MPL can drastically impair its function and be a contributing factor in multiple… read more here.
Keywords: thrombocytopenia; gene editing; congenital amegakaryocytic; mpl ... See more keywords
Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim
Sign Up to like & getrecommendations! Published in 2018 at "EMBO Molecular Medicine"
DOI: 10.15252/emmm.201708168
Abstract: Congenital amegakaryocytic thrombocytopenia (CAMT) is an inherited disorder characterized at birth by thrombocytopenia with reduced megakaryocytes, which evolves into generalized bone marrow aplasia during childhood. Although CAMT is genetically heterogeneous, mutations of MPL, the gene… read more here.
Keywords: thrombopoietin; thrombocytopenia; congenital amegakaryocytic; amegakaryocytic thrombocytopenia ... See more keywords