The abnormal regulation of alternative splicing is usually accompanied by the occurrence
and development of tumors, which would produce multiple different isoforms and diversify …

Removal of introns from messenger RNA precursors (pre-mRNA splicing) is an essential
step for the expression of most eukaryotic genes. Alternative splicing enables the regulated …

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 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 …

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

To elucidate differential roles of mutations in myelodysplastic syndromes (MDS), we
investigated clonal dynamics using whole-exome and/or targeted sequencing of 699 …

Mutations in pre-mRNA processing factors (PRPFs) cause autosomal-dominant retinitis
pigmentosa (RP), but it is unclear why mutations in ubiquitously expressed genes cause non …

Examples of associations between human disease and defects in pre–messenger RNA
splicing/alternative splicing are accumulating. Although many alterations are caused by …

Alternative splicing is a critical determinant of genome complexity and, by implication, is
assumed to engender proteomic diversity. This notion has not been experimentally tested in …

Precursor messenger RNA (pre-mRNA) splicing is catalyzed by an intricate
ribonucleoprotein complex called the spliceosome. Although the spliceosome is considered …