Amidst the debate around whether pathogenic mutations of presenilin harm cells by a gain of toxic function, or a loss of essential normal function (see ARF related news story), new results with ...

Loss-of-function (LOF) mutations of STAG2 gene are commonly detected in different tumors including non-small-cell lung cancer. However, there is no relevant research on the impact of STAG2 alterations ...

New findings have uncovered how essential the FOCAD gene is for maintaining a healthy liver, especially in children. Scientists have found that children carrying loss-of-function mutations in ...

In a novel study, researchers from the Icahn School of Medicine at Mount Sinai introduced LoGoFunc, an advanced computational tool that predicts pathogenic gain- and loss-of-function variants ...

Loss-of-function mutations in Janus kinase 1 (JAK1) or Janus kinase 2 (JAK2), deletion of the wild-type allele of JAK1 or JAK2, and truncation in the antigen-presenting protein beta-2 ...

Dominant-Negative Effect Mechanisms Worsen the Effects of Loss-of-Function Mutations Several factors make p53 more vulnerable to inactivation compared to other tumor suppressors.

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 half of cancers have mutations in the transcription factor p53, making p53 one of the most frequently mutated genes in solid tumors. P53 is a tumor suppressor, preventing out of control ...

One of the most extensively studied genes in cancer, TP53 is well known for its role as a tumor suppressor. It senses cellular stress or damage, and in response stops cell division or initiates cell ...

Researchers at the University of Bath have discovered how DNA damage caused by a faulty DNA protection and repair system can ...