CLC anion transporters are found in all phyla and form a gene family of eight members in
mammals. Two CLC proteins, each of which completely contains an ion translocation …

The insulin receptor (IR) gene undergoes differential splicing that generates two IR isoforms,
IR-A and IR-B. The physiological roles of IR isoforms are incompletely understood and …

Epilepsy is a common neurological disorder, and mutations in genes encoding ion channels
or neurotransmitter receptors are frequent causes of monogenic forms of epilepsy. Here we …

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 …

▪ Abstract Alternative pre-mRNA splicing is a central mode of genetic regulation in higher
eukaryotes. Variability in splicing patterns is a major source of protein diversity from the …

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

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 …

Myotonic dystrophy (DM) is the most common adult muscular dystrophy, characterized by
autosomal dominant progressive myopathy, myotonia and multiorgan involvement. To date …

The discovery that expansion of unstable repeats can cause a variety of neurological
disorders has changed the landscape of disease-oriented research for several forms of …

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