Most mutations that cause disease by swapping one amino acid out for another do so by making the protein less stable, according to a major study of human protein variants that was published in Nature ...

The Human Domainome 1—the largest library of human protein variants—reveals the cause of certain genetic disorders, paving the way for personalized medicines. “We measured every possible mutation in ...

Cardiomyopathy is a disease that affects the heart muscle (known as the myocardium). There are different types of cardiomyopathy. Each of these cause damage to the heart muscle, such as enlarging it ...

Human periportal assembloid, showcasing the three key cell types of the liver: portal fibroblasts (magenta), cholangiocytes (green), and hepatocyte nuclei (blue). All cell borders are delineated in ...

Researchers from Australia and Bangladesh have developed an artificial intelligence model capable of spotting and distinguishing between multiple types of lung disease. Called LungNet, the tool ...

Amyotrophic lateral sclerosis (ALS) affects the nerve cells in the brain and spinal cord that control muscle movement. Different types of ALS cause symptoms to begin in a certain part of the body and ...

Researchers and physicians alike are interested in identifying biomarkers from minimally invasive samples like blood to aid in disease detection and monitoring. However, so far, most targets observed ...

UMass Chan Medical School scientists have nearly tripled the known number of potential regulatory elements in the genome to 2 ...