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 rare but serious clotting disorder linked to certain COVID-19 vaccines and natural adenovirus infections has puzzled scientists for years.

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 team of scientists led by Prof. Patrik Verstreken (VIB-KU Leuven) has identified a new genetic mutation that may cause a form of early-onset Parkinsonism. The mutation, located in a gene called ...

OCTOBER 10, 2024, NEW YORK – A Ludwig Cancer Research study has punctured a longstanding assumption about the source of the most common type of DNA mutation seen in the genome—one that contributes to ...

Adverse genetic mutations can cause harm and are due to various circumstances. "Jumping genes" are one cause of mutations, but cells try and combat them with a specialized RNA called piRNA. For the ...

Scientists at the Broad Institute of MIT and Harvard, Harvard Medical School, and McLean Hospital have discovered a surprising mechanism by which the inherited genetic mutation known to cause ...

A genetic mutation commonly found in cancer patients may also affect how the human body develops in the womb, according to new research from the University of Dundee. Professor Kim Dale, Principal ...