Rare and private spliceosomal gene mutations drive partial, complete, and dual phenocopies of hotspot alterations

Genes encoding the RNA splicing factors SF3B1, SRSF2, and U2AF1 are subject to frequent missense mutations in clonal hematopoiesis and diverse neoplastic diseases. Most “spliceosomal” mutations affect specific hotspot residues, resulting in splicing changes that promote disease pathophysiology. Howe...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Blood
Prif Awduron: Pangallo, Joseph, Kiladjian, Jean-Jacques, Cassinat, Bruno, Renneville, Aline, Taylor, Justin, Polaski, Jacob T., North, Khrystyna, Abdel-Wahab, Omar, Bradley, Robert K.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: American Society of Hematology 2020
Pynciau:
Myeloid Neoplasia
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC7099330/
https://ncbi.nlm.nih.gov/pubmed/31961934
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood.2019002894
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg