More than 40 diseases, most of which primarily affect the nervous system, are caused by
expansions of simple sequence repeats dispersed throughout the human genome …

Expansions of simple tandem repeats are responsible for almost 50 human diseases, the
majority of which are severe, degenerative, and not currently treatable or preventable. In this …

Background Short tandem repeat (STR) expansion disorders are an important cause of
human neurological disease. They have an established role in more than 40 different …

The cornea is exquisitely designed to protect the eye while transmitting and focusing
incoming light. Precise control of corneal hydration by the endothelial cell layer that lines the …

Fuchs endothelial corneal dystrophy (FECD) is the most common primary corneal
endothelial dystrophy and the leading indication for corneal transplantation worldwide …

Expansions of gene-specific DNA tandem repeats (TRs), first described in 1991 as a
disease-causing mutation in humans, are now known to cause> 60 phenotypes, not just …

Purpose: To evaluate the effect of deliberate removal of the central Descemet membrane on
endothelial function and morphology in patients with Fuchs endothelial dystrophy (FED) and …

Fuchs endothelial corneal dystrophy (FECD) is a bilateral corneal endothelial disorder and
the most common cause of corneal transplantation worldwide. Professor Ernst Fuchs …

Tandem repeats (TRs) are highly polymorphic in the human genome, have thousands of
associated molecular traits and are linked to over 60 disease phenotypes. However, they …

The basic Helix-Loop-Helix (bHLH) proteins represent a well-known class of transcriptional
regulators. Many bHLH proteins act as heterodimers with members of a class of ubiquitous …