Given the pivotal roles of apoptosis in development and tissue homeostasis, it is not surprising that deregulation of caspases has been implicated in various pathological conditions, including ...

Protective alleles confer protection against disease by disrupting protein function, typically via loss-of-function (LoF) effects. Protective alleles have been identified for a range of complex ...

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 across ...

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 ...

In a trial in China, patients with a minor stroke or transient ischemic attack with CYP2C19 loss-of-function alleles as determined by point-of-care testing had modestly fewer second strokes with ...

Activists want it banned. The US government may soon further restrict it. And politicians won’t stop talking about it. So-called “gain-of-function” pathogen research has faced growing scrutiny ever ...