The discovery may explain why cutting edge CAR T-cell therapy has managed to revolutionized treatment for blood cancer but ...

Other mutations are Val690Met and Val968Met. In Mediterranean peoples, the most common mutation is a C563T substitution resulting in an amino acid change (Ser188Phe).

Alignment and sequencing errors are a major concern in molecular evolution, and this valuable study represents a welcome improvement for genome-wide scans of positive selection. This new method seems ...

From the time we are conceived and through old age, genetic mutations accumulate in all our tissues, eluding the body's ...

Researchers working on an incurable blood cancer can now use a new lab model that could make testing potential new treatments ...

For decades, the dream of fixing harmful mutations in mitochondrial DNA felt out of reach. Scientists have long known these ...

Microglia replacement therapy helps treat people with a rare genetic condition called ALSP, suggesting the approach could ...

Fourteen million people worldwide suffer from enlarged hearts, or hypertrophic cardiomyopathy (HCM), a genetic disease that ...

DNA mismatch repair ensures genomic integrity on DNA replication. Recognition of a DNA mismatch by a dimeric MutS protein initiates a cascade of reactions and results in repair of the newly ...

Identifying which DNA repair mutations are pathogenic remains a significant clinical challenge with important therapeutic implications. 5 One approach to elucidate the function of VUS is to use ...