U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an indispensable pre-mRNA splicing
factor in the early process of splicing. Recently, U2AF2 was reported as a novel candidate …

Hereditary disorders are frequently caused by genetic variants that affect pre‐messenger
RNA splicing. Though genetic variants in the canonical splice motifs are almost always …

The discovery of novel intronic variants in the ABCA4 locus has contributed significantly to
solving the missing heritability in Stargardt disease (STGD1). The increasing number of …

Preclinical evaluation of nucleic acid therapeutics (NATs) in relevant experimental model
systems is essential for NAT drug development. As part of COST Action “DARTER”(Delivery …

Purpose: The effect of noncoding variants is often unknown in the absence of functional
assays. Here, we characterized an ABCA4 intron 7 variant, c. 859-25A> G, identified in …

Exonic (ie coding) variants in genes associated with disease can exert pathogenic effects
both at the protein and mRNA level, either by altering the amino acid sequence or by …

High-throughput sequencing has identified numerous intronic variants in the SCN1A gene in
epilepsy patients. Abnormal mRNA splicing caused by these variants can lead to significant …

Alternative splicing impacts most multi-exonic human genes. Inaccuracies during this
process may have an important role in ageing and disease. Here, we investigated mis …

Pathogenic variants in OTOF cause auditory neuropathy spectrum disorder (ANSD), namely
prelingual nonsyndromic ANSD and temperature-sensitive ANSD (TS-ANSD). All study …

The Bcl-2 family of proteins are regulators of apoptosis. One of the Bcl-2 genes, Mcl-1,
produces two antagonistic isoforms by alternative splicing. The larger and more abundant …