Researchers from the Department of Pathology, School of Clinical Medicine at the LKS Faculty of Medicine of the University of ...

A seminal study has uncovered a new genetic cause of neurodevelopmental disorders (NDDs). The discovery offers both closure and hope to potentially thousands of families worldwide who have long been ...

Researchers have uncovered a surprising mechanism by which a single genetic mutation in the BCL11B gene causes both immune dysfunction and brain development issues.

A new multicenter study by researchers at the Icahn School of Medicine at Mount Sinai, in collaboration with the National Cancer Institute-funded Clinical Proteomic Tumor Analysis Consortium (CPTAC) ...

Most cancer genome studies have focused on mutations in the tumor itself and how such gene variants allow a tumor to grow unchecked.

UTA scientists reveal how the flowerpot snake repairs DNA and provides insights into human genetic conditions like Down ...

The disease has an early onset form, which affects patients before they reach age 50, and is due to genetic mutations; mutations that alter a protein called PINK1 were identified many years ago as a ...

Some genes on the silenced X chromosome escape that silencing process ... helps neurons send signals efficiently. It's known that mutations in PLP1 can decrease the amount of myelin in the ...

Genetics can also influence whether you’ll get this disease. Several gene mutations have been linked to the development of type 2 diabetes. These gene mutations can interact with the environment ...

These subgenomes formed through complex genetic events, including chromosome fusion in ancestral ... which helps eliminate harmful mutations over time. However, the flowerpot snake appears to ...