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 ...

Patients carrying Dyrk1a loss-of-function mutation have presented with ASD, microcephaly, language problems, social disability, and anxiety.

A loss-of-function mutation is a genetic change that reduces or eliminates the normal function of a gene or its product, a protein.

For example, gene replacement is used for recessive loss-of-function mutations, gene suppression for dominant-negative variants, and gene editing where precise correction is feasible.

Dravet syndrome is a severe and difficult to treat condition that is typically caused by a loss-of-function mutation in the SCN1A gene which encodes a sodium channel protein that is involved in ...

A loss-of-function mutation is a genetic change that reduces or eliminates the normal function of a gene or its product, a protein.

A new research paper was published in Volume 16 of Genes & Cancer on January 20, 2025, entitled, "Analysis of pathogenic variants in retinoblastoma reveals a potential gain of function mutation ...