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Mechanistic Insights of Aberrant Splicing with Splicing Factor Mutations Found in Myelodysplastic Syndromes.

International journal of molecular sciences - 21 Jul 2021

Kataoka Naoyuki, Matsumoto Eri, Masaki So

Abstract excerpt

Pre-mRNA splicing is an essential process for gene expression in higher eukaryotes, which requires a high order of accuracy. Mutations in splicing factors or regulatory elements in pre-mRNAs often result in many human diseases. Myelodysplastic syndrome (MDS) is a heterogeneous group of chronic myeloid neoplasms characterized by many symptoms and a high risk of progression to acute myeloid leukemia. Recent...

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Mutation
Myelodysplastic Syndromes
RNA Precursors
RNA Splicing
RNA Splicing Factors

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PMID: 34360561
DOI: 10.3390/ijms22157789
PMCID: PMC8346168

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