RNA adopts 3D structures that confer varied functional roles in human biology and
dysfunction in disease. Approaches to therapeutically target RNA structures with small …

The human genome contains over one million short tandem repeats. Expansion of a subset
of these repeat tracts underlies over fifty human disorders, including common genetic …

Ribonucleoprotein (RNP) granules are RNA–protein assemblies that are involved in
multiple aspects of RNA metabolism and are linked to memory, development, and disease …

A population-based screen to determine the genetic frequency of myotonic dystrophy (DM)
is technically feasible but has not yet been performed on a large scale. The most ambitious …

RNA-binding proteins (RBPs) play a critical role in the regulation of various RNA processes,
including splicing, cleavage and polyadenylation, transport, translation and degradation of …

Myotonic dystrophy is the most common type of muscular dystrophy in adults and is
characterised by progressive myopathy, myotonia, and multiorgan involvement. Two …

Previous studies have shown that the translation level of in vitro transcribed messenger RNA
(mRNA) is enhanced when its uridines are replaced with pseudouridines; however, the …

Several neurodegenerative disorders like amyotrophic lateral sclerosis (ALS) and
spinocerebellar ataxia (SCA) are caused by non‐coding nucleotide repeat expansions …

Genotype-to-phenotype mapping commonly focuses on two major classes of mutations:
single nucleotide polymorphisms (SNPs) and copy number variation (CNV). Here, we …

The precision and complexity of intron removal during pre-mRNA splicing still amazes even
26 years after the discovery that the coding information of metazoan genes is interrupted by …