Exploring mutations that spontaneously switch on a key brain cell receptor

Many people are familiar with histamine, a biological molecule that serves as a key driver of allergic reactions and other ...

Childhood deafness: Researchers identify over 200 mutations, including previously unknown variants

Deafness, the most common sensorineural hearing loss at all stages of life, occurs either independently or as part of syndromes associated with other symptoms, such as Usher syndrome type 1. In a ...
Ars Technica

Mutations in a non-coding gene associated with intellectual disability

Almost 1,500 genes have been implicated in intellectual disabilities; yet for most people with such disabilities, genetic causes remain unknown. Perhaps this is in part because geneticists have been ...
Science Daily

Mutations in noncoding DNA become functional in some cancer-driving genes

Despite progress in defining functional elements of noncoding DNA, it is still not fully understood. Researchers, using an experiment that elucidated the function of tens of thousands of noncoding ...
Science Daily

Indoor tanning triples melanoma risk and seeds broad DNA mutations

Researchers discovered that tanning beds cause widespread, mutation-laden DNA damage across almost all skin, explaining the sharply increased melanoma risk. Single-cell genomic analysis revealed ...
Wired

Sperm From Older Men Have More Genetic Mutations

Human semen not only accumulates genetic mutations with age; as the percentage of sperm carrying potentially serious mutations increases, so does the risk of developing diseases in offspring. This is ...