Splicing of precursor mRNAs (pre-mRNA) is an important step during eukaryotic gene
expression. The identification of the actual splice sites and the proper removal of introns are …

Intron retention (IR) is a form of alternative splicing that has long been neglected in
mammalian systems although it has been studied for decades in non-mammalian species …

DNA methylation is essential to development and cellular physiology in mammals. Faulty
DNA methylation is frequently observed in human diseases like cancer and neurological …

Mutations in methyl CpG binding protein 2 (MeCP2) are the major cause of Rett syndrome
(RTT), a rare neurodevelopmental disorder with a notable period of developmental …

Acute myeloid leukemia (AML) has not benefited from innovative immunotherapies, mainly
because of the lack of actionable immune targets. Using an original proteogenomic …

RNA-binding proteins (RBPs) are essential for the development and function of the immune
system. They interact dynamically with RNA to control its biogenesis and turnover by …

Mutations causing amyotrophic lateral sclerosis (ALS) strongly implicate ubiquitously
expressed regulators of RNA processing. To understand the molecular impact of ALS …

Intron retention (IR) by alternative splicing is a conserved regulatory mechanism that can
affect gene expression and protein function during adult development and age‐onset …

Three decades of research have established the CCCTC-binding factor (CTCF) as a
ubiquitously expressed chromatin organizing factor and master regulator of gene …

Nearly all human multiexon genes are subject to alternative splicing in one or more cell
types. The splicing machinery therefore has to select between multiple splice sites in a …