Almost all protein-coding genes are spliced and their majority is alternatively spliced.
Alternative splicing is a key element in eukaryotic gene expression that increases the coding …

Recent genomewide analyses of alternative splicing (AS) indicate that up to 70% of human
genes may have alternative splice forms, suggesting that AS together with various …

Alternative splicing is a key molecular mechanism for increasing the functional diversity of
the eukaryotic proteomes. A large body of experimental data implicates aberrant splicing in …

Single nucleotide variants (SNVs) in intronic regions have yet to be systematically
investigated for their disease-causing potential. Using known pathogenic and neutral …

Alterations in the abundance or activities of alternative splicing regulators generate
alternatively spliced variants that contribute to multiple aspects of tumor establishment …

Hepatocellular carcinoma (HCC) is among the commonest kind of malignant tumors, which
accounts for more than 500,000 cases of newly diagnosed cancer annually. Many …

To uncover pathogenic deep intronic variants in patients with colorectal adenomatous
polyposis, in whom no germline mutation in the APC or MUTYH genes can be identified by …

Colorectal cancer (CRC) results from a transformation of colonic epithelial cells into
adenocarcinoma cells due to genetic and epigenetic instabilities, alongside remodelling of …

For most of our 25,000 genes, the removal of introns by pre-messenger RNA (pre-mRNA)
splicing represents an essential step toward the production of functional messenger RNAs …

Mongin C, Coulet F, Lefevre JH, Colas C, Svrcek M, Eyries M, Lahely Y, Fléjou J‐F, Soubrier
F, Parc Y. Unexplained polyposis: a challenge for geneticists, pathologists and …