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Journal article

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

Abstract:

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 impact of these commonly mutated splicing factors on pre-mRNA splicing in the bone marrow stem/progenitor cells and in the erythroid and myeloid precursors in splicing factor mutant MDS. Using RNA-seq, we determined the aberrantly spliced genes and dysregulated pathways in CD34+ cells of 84 MDS patients....

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1182/blood-2018-04-843771

Authors


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Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
RDM Clinical Laboratory Sciences
Role:
Author
ORCID:
0000-0002-6122-0221
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Institution:
University of Oxford
Division:
Medical Sciences
Department:
RDM; RDM Clinical Laboratory Sciences
Role:
Author
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Institution:
University of Oxford
Division:
Medical Sciences
Department:
RDM; RDM Clinical Laboratory Sciences
Role:
Author
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Institution:
University of Oxford
Division:
Wellcome Trust Centre for Human Genetics
Role:
Author
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Institution:
University of Oxford
Division:
Computational Biology Research Group
Role:
Author
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Funding agency for:
Vyas, P
Grant:
oxfbrc-2012-1
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Funding agency for:
Vyas, P
Grant:
oxfbrc-2012-1
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Grant:
FP7 program 'SyStemAge'
Publisher:
American Society of Hematology Publisher's website
Journal:
Blood Journal website
Volume:
132
Issue:
12
Pages:
1225-1240
Publication date:
2018-06-21
Acceptance date:
2018-06-11
DOI:
EISSN:
1528-0020
ISSN:
0006-4971
Pmid:
29930011
Source identifiers:
859197
Language:
English
Pubs id:
pubs:859197
UUID:
uuid:c69647b4-5873-431e-a1fb-98135cd42d2c
Local pid:
pubs:859197
Deposit date:
2018-06-25

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