To date, more than 30 genes have been linked to monogenic diabetes. Candidate gene and
genome-wide association studies have identified> 50 susceptibility loci for common type 1 …

Purpose Wolfram syndrome is a degenerative, recessive rare disease with an onset in
childhood. It is caused by mutations in WFS1 or CISD2 genes. More than 200 different …

The Wolfram syndrome is a rare autosomal recessive disease affecting many organs with
life-threatening consequences; currently, no treatment is available. The disease is caused …

Wolfram syndrome 1 (WS1) is a rare neurodegenerative disease transmitted in an
autosomal recessive mode. It is characterized by diabetes insipidus (DI), diabetes mellitus …

Studies on diabetes have long been hampered by a lack of authentic disease models that,
ideally, should be unlimited and able to recapitulate the abnormalities involved in the …

Abstract Wolfram syndrome 1 (WS1) is a rare autosomal recessive neurodegenerative
disease characterized by diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and …

There has been major progress in recent years uncovering the genetic causes of diabetes
presenting in the first year of life. Twenty genes have been identified to date. The most …

Neonatal diabetes is frequently part of a complex syndrome with extrapancreatic features:
18 genes causing syndromic neonatal diabetes have been identified to date. There are still …

Background Deafness is a highly heterogenous disorder with over 100 genes known to
underlie human non-syndromic hearing impairment. However, many more remain …

Neurodegenerative diseases are largely defined by protein aggregates in affected tissues.
Aggregates contain some shared components as well as proteins thought to be specific for …