University of Queensland researchers have found that a genetic mutation that causes melanoma can lie dormant in healthy skin, ...

Scientists have identified mutations in the CPD gene as a key cause of a rare congenital hearing loss, revealing how ...

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 ...

New research from the University of Wisconsin–Madison reveals that dysfunction in a protein essential to maintaining ...

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 ...

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 ...

A University of Massachusetts Amherst scientist has discovered that a mutation in the misfolding protein that causes Parkinson’s disease offers protection against another fatal neurodegenerative ...

An international research team, led by Shinghua Ding at the University of Missouri, has identified a previously unknown genetic disease that affects movement and muscle control.

(SALT LAKE CITY)—A 30-year-old woman with a history of upper respiratory infections had no idea she carried an immunodeficiency disorder – until her 6-year-old son was diagnosed with the same illness.

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 ...

Months after a teen girl died after undergoing a dental procedure in a Chicago suburb, her cause of death has been released.