SOX17 mutations are linked to severe pulmonary arterial hypertension often diagnosed in childhood, though some develop the ...

A reanalysis of whole-genome data from 130 children conceived after the Chernobyl disaster has identified a statistically ...

When the TREX1 gene is functioning normally, it produces a protein that helps maintain DNA in cells throughout the body. Mutations in the TREX1 gene are known to cause a rare and serious disease ...

Scientists have created a complete map showing how hundreds of possible mutations in a key cancer gene influence tumor growth ...

Researchers have created the first complete map showing how hundreds of mutations in a key cancer gene affect tumor growth.

Study results indicate that mutation strength may shape both tumor–immune system interactions and immunotherapy response.

Patients with CaV2.1 channelopathies face severe and often debilitating symptoms, such as seizures, migraines, tremors, and developmental delays. Although some symptoms overlap among these rare ...

LONDON, Oct 23 (Reuters) - Scientists have uncovered a second gene mutation that determines which patients will respond to the bowel cancer drugs Erbitux and Vectibix, opening the way to still more ...