V
Violetta Steeples
Researcher at University of Oxford
Publications - 24
Citations - 1122
Violetta Steeples is an academic researcher from University of Oxford. The author has contributed to research in topics: RNA splicing & Gene. The author has an hindex of 14, co-authored 20 publications receiving 813 citations. Previous affiliations of Violetta Steeples include Wellcome Trust Centre for Human Genetics & National Institute for Health Research.
Papers
More filters
Journal ArticleDOI
Impact of spliceosome mutations on RNA splicing in myelodysplasia: dysregulated genes/pathways and clinical associations
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 S. 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 J. Smith,Stephen Smith,Jacqueline Boultwood +29 more
TL;DR: The effect of the common spliceosome mutations on the myelodysplastic syndromes phenotype is illuminated and novel insights into disease pathophysiology are provided.
Journal ArticleDOI
U2AF1 mutations induce oncogenic IRAK4 isoforms and activate innate immune pathways in myeloid malignancies.
Molly A. Smith,Molly A. Smith,Gaurav Choudhary,Andrea Pellagatti,Kwangmin Choi,Lyndsey Bolanos,Tushar D. Bhagat,Shanisha Gordon-Mitchell,Dagny Von Ahrens,Kith Pradhan,Violetta Steeples,Sang-hyun Kim,Ulrich Steidl,Matthew J. Walter,Iain D. C. Fraser,Aishwarya Kulkarni,Nathan Salomonis,Nathan Salomonis,Kakajan Komurov,Kakajan Komurov,Jacqueline Boultwood,Amit Verma,Daniel T. Starczynowski,Daniel T. Starczynowski +23 more
TL;DR: It is demonstrated that mutated splicing factor U2AF1 promotes expression of a longer isoform of IRAK4, leading to enhanced NF-kB activation and leukaemic growth in acute myeloid leukaemia.
Journal ArticleDOI
A mutation in the mitochondrial fission gene Dnm1l leads to cardiomyopathy.
Houman Ashrafian,Louise Docherty,Vincenzo C. Leo,Christopher Towlson,Monica Neilan,Violetta Steeples,Craig A. Lygate,Tertius Hough,Stuart Townsend,Debbie Williams,Sara Wells,D. P. Norris,Sarah Glyn-Jones,John M. Land,Ivana Barbaric,Zuzanne Lalanne,Paul Denny,Dorota Szumska,Shoumo Bhattacharya,Julian L. Griffin,Iain P. Hargreaves,Narcis Fernandez-Fuentes,Michael Cheeseman,Hugh Watkins,T. Neil Dear,T. Neil Dear,T. Neil Dear +26 more
TL;DR: This is the first demonstration that a defect in a gene involved in mitochondrial remodelling can result in cardiomyopathy, showing that the function of this gene is needed for the maintenance of normal cellular function in a relatively tissue-specific manner.
Journal ArticleDOI
Cryptic splicing events in the iron transporter ABCB7 and other key target genes in SF3B1 -mutant myelodysplastic syndromes
Hamid Dolatshad,Andrea Pellagatti,Fabio G. Liberante,Miriam Llorian,Emmanouela Repapi,Violetta Steeples,Swagata Roy,L Scifo,Richard N. Armstrong,Jacqueline Shaw,Bon Ham Yip,Sally Killick,Rajko Kusec,Stephen S. Taylor,Ken I. Mills,Kienan I. Savage,Christopher W.J. Smith,Jacqueline Boultwood +17 more
TL;DR: In this article, the authors performed a systematic analysis of cryptic splicing abnormalities from RNA sequencing data on hematopoietic stem cells (HSCs) of SF3B1-mutant MDS cases with RS.
Journal ArticleDOI
Chronic Activation of γ2 AMPK Induces Obesity and Reduces β Cell Function.
Arash Yavari,Arash Yavari,Claire J. Stocker,Sahar Ghaffari,Sahar Ghaffari,Edward T. Wargent,Violetta Steeples,Violetta Steeples,Gabor Czibik,Gabor Czibik,Katalin Pinter,Katalin Pinter,Mohamed Bellahcene,Mohamed Bellahcene,Angela Woods,Pablo B. Martínez de Morentin,Céline Cansell,Brian Y.H. Lam,André Chuster,Kasparas Petkevicius,Marie Sophie Nguyen-Tu,Aida Martinez-Sanchez,Timothy J. Pullen,Peter L. Oliver,A Stockenhuber,A Stockenhuber,Chinh Duc Nguyen,Chinh Duc Nguyen,Merzaka Lazdam,Jacqueline F. O’Dowd,Parvathy E. Harikumar,Mónika Tóth,Craig Beall,Theodosios Kyriakou,Theodosios Kyriakou,Julia Parnis,Julia Parnis,Dhruv Sarma,Dhruv Sarma,George D. Katritsis,George D. Katritsis,Diana D.J. Wortmann,Diana D.J. Wortmann,Andrew R. Harper,Andrew R. Harper,Laurence A. Brown,Robin Willows,Silvia Gandra,Victor Poncio,Márcio Jansen de Oliveira Figueiredo,Nathan Qi,Stuart N. Peirson,Rory J. McCrimmon,Balázs Gereben,Laszlo Tretter,Csaba Fekete,Csaba Fekete,Charles Redwood,Charles Redwood,Giles S.H. Yeo,Lora K. Heisler,Guy A. Rutter,Mark A. Smith,Dominic J. Withers,David Carling,Eduardo Back Sternick,Jonathan R.S. Arch,Michael A. Cawthorne,Hugh Watkins,Hugh Watkins,Houman Ashrafian +70 more
TL;DR: It is observed that mice with chronic AMPK activation, resulting from mutation of the AMPK γ2 subunit, exhibit ghrelin signaling-dependent hyperphagia, obesity, and impaired pancreatic islet insulin secretion.