A new research paper was published in Volume 16 of Genes & Cancer on January 20, 2025, entitled, "Analysis of pathogenic variants in retinoblastoma reveals a potential gain of function mutation." ...

While the virus is generally found in wild birds and poses risk only to poultry, its spread to a new range of mammals may pave the way for new mutations that could increase its lethality. In 2024, the ...

In a family of 15 people in northern Italy, six developed late-onset Alzheimer’s disease – and when researchers ran genetic tests, all six had a rare mutation in a protein-coding gene known as ...

Summary: A new study has uncovered a direct link between somatic mutations and epigenetic modifications, challenging established views on aging. Researchers found that random genetic mutations drive ...

Update: We have added multiple new mutations to this list which were added in the Atlantis update to Fisch, and explained how to get them! We also adjusted some of the multiplier values in this ...

Similarly, natural or designed proteins are mutagenized at targeted positions and screened for gain-of-function mutations. Here, we describe methods to attain complete randomization or controlled ...

Using in vitro functional analysis, we showed that the heterozygous STAT1 D168E mutation in our patient had a dominant ... that immunological abnormalities including Th17 and B cell function may also ...