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Results: 5
Single-cell analysis reveals the continuum of human lympho-myeloid progenitor cells.
Dimitris Karamitros, Bilyana Stoilova, Zahra Aboukhalil, Fiona Hamey, Andreas Reinisch, Marina Samitsch, Lynn Quek, Georg Otto, Emmanouela Repapi, Jessica Doondeea, Batchimeg Usukhbayar, Julien Calvo, Stephen Taylor, Nicolas Goardon, Emmanuelle Six, Francoise Pflumio, Catherine Porcher, Ravindra Majeti, Berthold Göttgens, Paresh Vyas
Nov 06, 2017
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...
Hepcidin is regulated by promoter-associated histone acetylation and HDAC3.
Sant-Rayn Pasricha, Pei Jin Lim, Tiago L Duarte, Carla Casu, Dorenda Oosterhuis, Katarzyna Mleczko-Sanecka, Maria Suciu, Ana Rita Da Silva, Kinda Al-Hourani, João Arezes, Kirsty McHugh, Sarah Gooding, Joe N Frost, Katherine Wray, Ana Santos, Graça Porto, Emmanouela Repapi, Nicki Gray, Simon J Draper, Neil Ashley, Elizabeth Soilleux, Peter Olinga, Martina U Muckenthaler, Jim R Hughes, Stefano Rivella, Thomas A Milne, Andrew E Armitage, Hal Drakesmith
Dec 17, 2018
Hepcidin regulates systemic iron homeostasis. Suppression of hepcidin expression occurs physiologically in iron deficiency and increased erythropoiesis but is pathologic in thalassemia and hemochromatosis. Here we show that...
Cryptic splicing events in the iron transporter ABCB7 and other key target genes in SF3B1-mutant myelodysplastic syndromes.
H Dolatshad, A Pellagatti, FG Liberante, M Llorian, E Repapi, V Steeples, S Roy, L Scifo, RN Armstrong, J Shaw, BH Yip, S Killick, R Kušec, S Taylor, KI Mills, KI Savage, CWJ Smith, J Boultwood
Aug 14, 2017
The splicing factor SF3B1 is the most frequently mutated gene in myelodysplastic syndromes (MDS), and is strongly associated with the presence of ring sideroblasts (RS). We have performed a systematic analysis of cryptic...
The U2AF1$^{S34F}$ mutation induces lineage-specific splicing alterations in myelodysplastic syndromes
BH Yip, V Steeples, E Repapi, RN Armstrong, M Llorian, S Roy, J Shaw, H Dolatshad, S Taylor, A Verma, M Bartenstein, P Vyas, NC Cross, L Malcovati, M Cazzola, E Hellström-Lindberg, S Ogawa, CW Smith, A Pellagatti, J Boultwood
Jun 27, 2017