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Thesis

An investigation of the role of mutations in the spliceosome machinery in the myelodysplastic syndromes

Abstract:

The myelodysplastic syndromes (MDS) are common myeloid malignancies. Mutations in splicing factor genes (including SF3B1, SRSF2 and U2AF1) occur in over half of MDS patients and result in aberrant pre-mRNA splicing of many target genes, indicating that aberrant spliceosome function plays a key role in the pathogenesis of MDS. However, the molecular mechanisms through which the splicing factor mutations drive the MDS phenotype are not fully understood. A previous study from our group has shown...

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Division:
MSD
Department:
RDM
Sub department:
RDM Clinical Laboratory Sciences
Role:
Author

Contributors

Role:
Contributor
Role:
Supervisor
Role:
Supervisor
Role:
Supervisor
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Name:
Blood Cancer UK
Funding agency for:
Pellagatti, A
Boultwood, J
Grant:
13042 and 19004
Type of award:
DPhil
Level of award:
Doctoral
Awarding institution:
University of Oxford
Language:
English
Keywords:
Deposit date:
2023-04-09

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