A protein identified nearly 40 years ago for its ability to stimulate the production of red blood cells plays a surprising, ...

Certain DNA sequences can form structures other than the canonical double helix. These alternative DNA conformations—referred ...

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

Mutations in the MDGA2 gene have been found in people with ASD. In this study, mice with reduced levels of MDGA2 showed autism-like behaviors such as repetitive grooming and changes in social behavior ...

and a novel nonsense mutation in the UROS gene (c 0.325A > T: p.K109*). Bioinformatic analysis indicated that the c 0.325A > T: p.K109* variant is pathogenic. Structural modeling demonstrated that the ...