Dysregulated RNA splicing is a molecular feature that characterizes almost all tumour types.
Cancer-associated splicing alterations arise from both recurrent mutations and altered …

The human transcriptome is composed of a vast RNA population that undergoes further
diversification by splicing. Detecting specific splice sites in this large sequence pool is the …

Genomic analyses of cancer have identified recurrent point mutations in the RNA splicing
factor–encoding genes SF3B1, U2AF1, and SRSF2 that confer an alteration of function …

Stimulated cells and cancer cells have widespread shortening of mRNA 3'-untranslated
regions (3'UTRs) and switches to shorter mRNA isoforms due to usage of more proximal …

Hotspot mutations in splicing factor genes have been recently reported at high frequency in
hematological malignancies, suggesting the importance of RNA splicing in cancer. We …

Alternative splicing is a tightly regulated process whereby non-coding sequences of pre-
mRNA are removed and protein-coding segments are assembled in diverse combinations …

The recent genomic characterization of cancers has revealed recurrent somatic point
mutations and copy number changes affecting genes encoding RNA splicing factors. Initial …

Myelodysplastic syndrome (MDS) is a clonal disease that arises from the expansion of
mutated haematopoietic stem cells. In a spectrum of myeloid disorders ranging from clonal …

Recent studies have highlighted that splicing patterns are frequently altered in cancer and
that mutations in genes encoding spliceosomal proteins, as well as mutations affecting the …

Mutations affecting spliceosomal proteins are the most common mutations in patients with
myelodysplastic syndromes (MDS), but their role in MDS pathogenesis has not been …