Researchers at Kyushu University in Japan have pinpointed the X-linked mutation behind orange fur in house cats. They say the “deletion mutation” – a type of mutation where a section of DNA is missing ...

The "meow-tation" that gives ginger cats their distinct fur has been discovered. A small deletion in a gene on the X-chromosome lies behind the fiery coats of ginger tabbies and the splotchy orange ...

This case presents an infant male child who initially presented with clinical features resembling glycogen storage disease type I (GSD I), including hepatomegaly, a doll-like face and metabolic ...

Recently, butlers to orange-colored cats got a bit of a shock when reading the news, as headlines began to call out their fuzzy feline friends as ‘freaks of nature’ and using similarly uncouth terms.

X-linked chronic granulomatous disease (X-CGD) is a rare genetic disorder characterized by high susceptibility to infections that results from genetic mutations in the cytochrome b-245 beta chain ...

Scientists have identified several new genetic mutations linked to a rare neurodegenerative disease called CSF1R-related disorder (CSF1R-RD). The disease is gaining recognition as the use of genetic ...

Sperm from a single donor in Europe has reportedly been used to conceive at least 67 pregnancies, although the donor carried a rare cancer-causing mutation. The donor’s mutation has been linked to ...

Mutations in LXRα lead to liver cholesterol buildup, hepatitis, and fibrosis in individuals on a Western diet, highlighting the receptor's role in maintaining liver health. Study: Damaging mutations ...