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 ...

Researchers explored the impact of a loss-of-function mutation in the SARS-CoV-2 Omicron variants on the expression of the spike 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." ...

Recently, it has been found that loss-of-function of TPC2 alkalized melanosomes promoted pigmentation, while gain-of-function of TPC2 acidified melanosomes and inhibited melanin synthesis.

In a research study published in Nature Genetics, scientists have found that children carrying loss-of-function mutations in FOCAD are presented with an early onset, paediatric form of liver ...

G proteins and G-protein-coupled receptors (GPCRs) mediate the effects of a number of hormones. Genes that encode these molecules are subject to loss-of function or gain-of-function mutations that ...

“ But it will require that we take a fresh look at the regulatory requirements and find innovative ways to address the needs of patients with heterozygous toxic gain-of-function mutations.” ...

Here, we conducted a genetic screen for relief of transcriptional interference that unveiled a mechanism by which Pol2 termination is enhanced via a gain-of-function mutation, G476S, in the ...

Some of these mutations may cause genes to be too active, while in other cases they are not active enough. Scientists have now discovered that in some cases, mutations in cancer-promoting genes can ...

Certain missense mutations occurring in hotspots in the TP53 gene may confer gain of function (GOF) oncogenic properties. A recent mouse model (Kadosh et. al., Nature, 2020) demonstrated that secreted ...

The debate between loss-of-function and gain-of-function hypotheses for FUS is not settled.—Amber Dance To make a comment you must login or register. Ishigaki S, Masuda A, Fujioka Y, Iguchi Y, Katsuno ...