An international research team reveals new molecular mechanisms associated with pathogenic mutations in the protein ...

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 ...

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 ...

Australian researchers say they have identified a gene mutation that causes the skin disease psoriasis. A chronic inflammatory condition, psoriasis causes red, scaly, itchy patches on the skin. Some ...

A condition called CD3 delta SCID is caused by a mutation in the CD3D gene, which prevents the production of the CD3 delta protein that is needed for the normal development of T cells from blood stem ...

Scientists have discovered a surprising mechanism by which the inherited genetic mutation known to cause Huntington's disease leads to the death of brain cells. The findings change the understanding ...

(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 at St. Jude Children’s Research Hospital and the Broad Institute of MIT and Harvard showed how prime editing can correct the mutation that causes sickle cell disease in a potentially ...

In two separate studies, German researchers have identified the single-gene mutation that can lead to the incurable autoimmune disease lupus. The discovery opens the door to developing new therapeutic ...