Throughout development, life and the processes of aging, all human cells accumulate mutations, resulting in what is called mosaicism, a condition in which different cells in the same person have ...

Mutations linking liver disease with obesity and diabetes have been identified, leading to new understanding about how systemic diseases interact. For the first time, DNA mutations in liver cells have ...

Scientists have discovered an unexpected role for a protein already linked to devastating neurological diseases. The study ...

Neurologists have discovered a genetic mutation that may protect the brain from dementia. Francisco Lopera, a researcher at the University of Antioquia in Colombia, has spent almost forty years ...

For the first time, scientists have discovered how a gene mutation can cause heart disease in adults despite normal cholesterol levels and no other risk factors. Researchers at the University of Texas ...

Parkinson's disease researchers say they have discovered a genetic mutation in a small protein that could produce new treatments for the debilitating brain disorder. Chinnapong - stock.adobe.com ...

Johns Hopkins Medicine researchers, in collaboration with national and international researchers, have identified a genetic mutation in a small number of children with a rare type of inflammatory ...

Johns Hopkins Medicine researchers, in collaboration with national and international researchers, have identified a genetic mutation in a small number of children with a rare type of inflammatory ...

A common gene mutation for Parkinson’s disease drives mislocalization of iron in activated microglia, according to a new study publishing December 16 th in the open-access journal PLOS Biology, by ...

Among the forms of monogenic macular degeneration, the most common is Stargardt disease. This disease is caused by mutations in the ATP-binding cassette transporter alpha 4 subunit (ABCA4) gene, ...

For the first time, DNA mutations in liver cells have been identified that impact metabolism and insulin sensitivity in patients with liver disease. These mutations are specific to liver disease that ...