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 …

Tandem repeats represent one of the most abundant class of variations in human genomes,
which are polymorphic by nature and become highly unstable in a length-dependent …

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 …

Epilepsy encompasses a group of heterogeneous brain diseases that affect more than 50
million people worldwide. Epilepsy may have discernible structural, infectious, metabolic …

Ferroptosis is a unique form of cell death caused by excessive iron-dependent lipid
peroxidation. The level of the anabolic reductant NADPH is a biomarker of ferroptosis …

Repeat expansions are responsible for over 40 monogenic disorders, and undoubtedly
more pathogenic repeat expansions remain to be discovered. Existing methods for detecting …

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 …

Repeat expansions in FGF14 cause autosomal dominant late-onset cerebellar ataxia
(SCA27B) with estimated pathogenic thresholds of 250 (incomplete penetrance) and 300 …

Ferroptosis is the type of cell death arising from uncontrolled and excessive lipid
peroxidation. NADPH is essential for ferroptosis regulation because it supplies reducing …