Impact of spliceosome mutations on RNA splicing in myelodysplasia: dysregulated genes/pathways and clinical associations

Authors: 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 W. J. Smith, Stephen Smith, Jacqueline Boultwood - Blood 2018 cited by 250

mutations, respectively, led to impaired erythroid cell growth and differentiation. This study illuminates the effect of the common spliceosome mutations on the MDS phenotype and provides novel insights into disease pathophysiology.