Alzheimer's disease is a progressive and permanent loss of nerve cells in the brain. The breakdown causes memory loss, ...

Molecular disease mechanisms caused by mutations in protein-coding regions are diverse, but they can be broadly categorised into loss-of-function, gain-of-function and dominant-negative effects.

A female proband (III-1) of Singapore Chinese ethnicity was diagnosed with early-onset diabetes at the age of 10 years (random glucose 306 mg/dL), verified to be GAD antibody negative, and had ...

Dextrocardia, a condition where the heart is located on the right side of the thoracic cavity, occurs in approximately 0.83 of 10,000 pregnancies and is often associated with complex congenital heart ...

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 ...

Scientists at deCODE genetics, a subsidiary of Amgen, reveal today in Nature Genetics associations between bipolar disorder and rare loss-of-function variants in two genes. Bipolar disorder is ...

If you experience weakness and a loss of fine motor function in your arms and hands after neck trauma, you may have a spinal cord injury called central cord syndrome. This type of injury can disrupt ...