Scientists have identified mutations in the CPD gene as a key cause of a rare congenital hearing loss, revealing how disruptions in arginine and nitric oxide signaling damage sensory cells in the ear.

A treatment that is effective against hearing loss caused by the 'MPZL2 gene' mutation has been developed. A research team ...

Scientists have traced a devastating pattern of brain cell loss in a handful of families to a single, ultra-rare mutation ...

(SALT LAKE CITY)--A gene mutation associated with a rare sleep disorder surprisingly also contributes to debilitating migraines, a new study led by University of Utah researchers shows. The discovery ...

Scientists have shown that defects in the protein CAPRIN1 are the cause of various neurological impairments. These new insights were made possible by exome analyses, in which scientists observe which ...

Researchers at Baylor College of Medicine and collaborating institutions report in the journal Nature Communications how a mutation in the enzyme SKD3 can cause a form of a genetic disease known as ...

Scientists looking to understand the fundamental brain mechanisms of autism spectrum disorder have found that a gene mutation known to be associated with the disorder causes an overstimulation of ...

Most mutations that cause disease by swapping one amino acid out for another do so by making the protein less stable, according to a major study of human protein variants that was published in Nature ...

Researchers from the Neuromuscular Diseases Group and the Dementia Neurobiology Group of the Sant Pau Research Institute (IR Sant Pau) and the Memory Unit of the Sant Pau Hospital, led by neurologist ...

A highly contagious flu mutation called subclade K is sweeping the nation, raising health concerns about vaccine ...