The feasibility of eight beneficial LOF mutation targets (PCSK9, ANGPTL3, ASGR1, HSD17B13, KHK, CIDEB, GPR75, and INHBE) as targets for drug discovery is mainly emphasized, ...

In their most recent study, Isaacs and his colleagues looked at 65 germline loss-of-function (LoF) variants—mutations in a reproductive cell (egg or sperm) that cause some genes to lose their ...

The study reveals that a gain-of-function (GOF) mutation in the CARMIL2 gene unlocks powerful T cell activity, offering a promising new avenue for the development of advanced immunotherapies.

In a recent study featured in Nature Communications, researchers created mice that carry a gain-of-function (GoF) mutation in the gene encoding the inhibitor of nuclear factor kappa-b kinase ...

Based on a thorough understanding and summary of beneficial LOF mutation targets, new insights are provided for drug development that mimic the natural disease-protective effects of rare LOF variants.