Impact of spliceosome mutations on RNA splicing in myelodysplasia: dysregulated genes/pathways and clinical associations-Reference-Cited by-同舟云学术

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

Published:2018-09-20 Issue:12 Volume:132 Page:1225-1240
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Pellagatti Andrea¹²^ORCID,Armstrong Richard N.¹²^ORCID,Steeples Violetta¹²,Sharma Eshita³,Repapi Emmanouela⁴,Singh Shalini¹²,Sanchi Andrea¹²,Radujkovic Aleksandar⁵,Horn Patrick⁵,Dolatshad Hamid¹²,Roy Swagata¹²,Broxholme John³,Lockstone Helen³,Taylor Stephen⁴,Giagounidis Aristoteles⁶,Vyas Paresh⁷²⁸,Schuh Anna⁹,Hamblin Angela⁹,Papaemmanuil Elli¹⁰,Killick Sally¹¹,Malcovati Luca¹²¹³,Hennrich Marco L.¹⁴,Gavin Anne-Claude¹⁴,Ho Anthony D.⁵,Luft Thomas⁵,Hellström-Lindberg Eva¹⁵,Cazzola Mario¹²¹³,Smith Christopher W. J.¹⁶,Smith Stephen¹⁷,Boultwood Jacqueline¹²^ORCID

Affiliation:

1. Nuffield Division of Clinical Laboratory Sciences, Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom;

2. Haematology Theme Oxford Biomedical Research Centre, Oxford, United Kingdom;

3. Wellcome Trust Centre for Human Genetics and

4. The Computational Biology Research Group, Weatherall Institute of Molecular Medicine (WIMM), University of Oxford, United Kingdom;

5. Department of Internal Medicine V, University Hospital Heidelberg, Germany;

6. Clinic for Oncology, Hematology, and Palliative Medicine, Marien Hospital Düsseldorf, Germany;

7. Medical Research Council Molecular Hematology Unit, WIMM, University of Oxford, United Kingdom;

8. Department of Hematology, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom;

9. Molecular Diagnostics Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom;

10. Department of Epidemiology-Biostatistics, Center for Molecular Oncology, Memorial Sloan-Kettering Cancer Center, New York, NY;

11. Department of Haematology, Royal Bournemouth Hospital, Bournemouth, United Kingdom;

12. Department of Molecular Medicine, University of Pavia, Pavia, Italy;

13. Department of Hematology Oncology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy;

14. European Molecular Biology Laboratory Structural and Computational Biology Unit, Heidelberg, Germany;

15. Center for Hematology and Regenerative Medicine, Karolinska University Hospital Huddinge, Sweden; and

16. Department of Biochemistry and

17. Department of Pathology, University of Cambridge, Cambridge, United Kingdom

Abstract

Key Points RNA-seq analysis of CD34+ cells identifies novel aberrantly spliced genes and dysregulated pathways in splicing factor mutant MDS. Aberrantly spliced isoforms predict MDS survival and implicate dysregulation of focal adhesion and exosomes as drivers of poor survival.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/132/12/1225/1467536/blood843771.pdf

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