Impact of spliceosome mutations on RNA splicing in myelodysplasia
Andrea Pellagatti,
Richard N Armstrong,
Violetta Steeples,
Eshita Sharma,
Emmanouela Repapi,
Shalini Singh,
Andrea Sanchi,
Aleksandar Radujkovic,
Patrick Horn,
Hamid Dolatshad,
Swagata Roy,
John Broxholme,
Helen Lockstone,
Stephen Taylor,
Aristoteles Giagounidis,
Paresh Vyas,
Anna Schuh,
Angela Hamblin,
Elli Papaemmanuil,
Sally Killick,
Luca Malcovati,
Marco L Hennrich,
Anne-Claude Gavin,
Anthony D Ho,
Thomas Luft,
Eva Hellström-Lindberg,
Mario Cazzola,
Christopher WJ Smith,
Stephen Smith,
Jacqueline Boultwood
Mar 19, 2019
SF3B1, SRSF2, and U2AF1 are the most frequently mutated splicing factor genes in the myelodysplastic syndromes (MDS). We have performed a comprehensive and systematic analysis to determine the effect of these commonly mutated...