Some genetic mutations that are expected to completely stop a gene from working surprisingly cause only mild or even no symptoms. Researchers in previous studies have discovered one reason why: cells ...

Autologous T-Cell Therapies in Solid Tumor Malignancies: Current Landscape and Future Opportunities Histology-agnostic therapies: by focusing on common mutations across various cancers, this approach ...

Researchers employed a programmable DNA base editing technology to introduce a knockout mutation in the ND5 mitochondria gene, aiming to investigate the resulting genotypic and phenotypic changes.

More than 300 mutations in PSEN1 have been catalogued, but none are quite like the one Bart De Strooper and colleagues at the Flanders Institute for Biotechnology in Leuven, Belgium, reported on ...

Dominika Pilat, PhD, and Ana Griciuc, PhD, of the Department of Neurology at Massachusetts General Hospital are the lead and senior authors of a paper published in Neuron, "The Gain-of-Function ...

Researchers found that paired pathogenic variants can restore protein function rather than make it worse. This phenomenon ...