Medical Xpress

Rare loss-of-function variants in HECTD2 and AKAP11 confer risk of bipolar disorder

Scientists at deCODE genetics/Amgen have identified associations between bipolar disorder and rare loss-of-function variants in two genes. Bipolar disorder is characterized by extreme mood swings, ...
Medical Xpress

Rare predicted loss-of-function variants, polygenic risk score linked to risk of A-fib

Rare predicted loss-of-function (pLOF) variants and a polygenic risk score (PRS) are associated with increased atrial fibrillation (AF) risk, according to a study published online June 26 in JAMA ...
Nature

Mechanistic insights into the loss-of-function mechanisms of rare human D-amino acid oxidase variants implicated in amyotrophic lateral sclerosis

ALS, also known as motor neurone disease, is a fatal and progressive neurodegenerative disease that causes the death of neurons controlling voluntary muscles and eventually leads to paralysis and ...
Nature

Ultra-Rare BRD9 Loss-of-Function Variants Limit the Antiviral Action of Interferon

The human type I interferon (IFN) system is central to innate immune defense, and is essential to protect individuals against severe viral disease. Consequently, genetic disruption of IFN signaling or ...