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The U2AF1S34F mutation induces lineage-specific splicing alterations in myelodysplastic syndromes.

Abstract:

Mutations of the splicing factor-encoding gene U2AF1 are frequent in the myelodysplastic syndromes (MDS), a myeloid malignancy, and other cancers. Patients with MDS suffer from peripheral blood cytopenias, including anemia, and an increasing percentage of bone marrow myeloblasts. We studied the impact of the common U2AF1S34F mutation on cellular function and mRNA splicing in the main cell lineages affected in MDS. We demonstrated that U2AF1S34F expression in human hematopoietic progenitors im...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1172/JCI91363

Authors


More by this author
Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
RDM Clinical Laboratory Sciences
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
RDM Clinical Laboratory Sciences
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
RDM Clinical Laboratory Sciences
Role:
Author
More from this funder
Funding agency for:
Malcovati, L
Grant:
IG 15356
More from this funder
Funding agency for:
Llorian, M
Grant:
092900
Publisher:
American Society for Clinical Investigation Publisher's website
Journal:
Journal of Clinical Investigation Journal website
Publication date:
2017-04-24
Acceptance date:
2017-02-21
DOI:
EISSN:
1558-8238
ISSN:
0021-9738
Language:
English
Keywords:
Pubs id:
pubs:691233
UUID:
uuid:41e92027-a838-4487-961a-7723ad9b1940
Local pid:
pubs:691233
Deposit date:
2017-04-27

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