This study offers important insight into the pathogenic basis of intragenic frameshift deletions in the carboxy-terminal domain of MECP2, which account for some Rett syndrome cases, yet similar ...

Traditional biochemical methods of studying human gene mutations are often laborious and costly. Now bioengineers at the University of California San Diego have developed a new simple approach to ...

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 ...

Unique mutations in the H5N1 strain enhance replication in human cells and cause severe disease in mice. The virus has spread from birds to mammals, including dairy cows, and infected humans, with one ...

Researchers headed by a team at Oregon Health & Science University (OHSU) have created what they claim to be the largest atlas of post-zygotic mutations (PZMs) in healthy human tissue. They generated ...

Over a decade, scientists compared the genomes of 240 mammals to see how humans are the same — and different. By Carl Zimmer It has been 20 years since scientists put together the first rough draft of ...

In a recent study published in Nature Biotechnology, researchers explored the causes of cancer by mapping somatic mutation rates across the human genome. Study ...

Mutations that might help bird flu viruses cross to humans are present in many of the strains of the H5N1 virus currently causing mass outbreaks in wild birds – although more genetic changes would be ...

A microscopic flaw in the brain’s cellular scaffolding can shape brain size for life.

Researchers showed that a severe drop in NAD+—a core energy molecule—drives Alzheimer’s pathology in both human brains and mouse models.