The neurodevelomental disease Rett syndrome is usually caused by mutations in a gene called MECP2, which is located on the X chromosome. Patients lose coordination, mobility, and their ability to ...
In humans, hundreds of proteins interact in a complex network dubbed the interactome. Those interactions are further complicated when disease-causing mutations are introduced into genes that code for ...
Researchers have taken a significant step forward in understanding the stability of proteins by leveraging the power of AI. The research team used AlphaFold2 to explore how mutations affect protein ...
Investigations suggest V2P may be efficiently applied for the automated identification of causal variants in simulated and actual patient sequencing data across phenotypes.
Oct. 15 -- WEDNESDAY, Oct. 14 (HealthDay News) -- U.S. researchers have identified a common gene mutation linked to side effects in people taking cholesterol-lowering statin drugs. Statins can reduce ...
Dysphagia in cancers of the lip, oral cavity, and pharynx patients: Impact on cachexia, hospitalization, and racial disparities on outcomes. This is an ASCO Meeting Abstract from the 2025 ASCO Annual ...
The prothrombin gene mutation increases your risk of severe blood clots. Medications, regular checkups, and healthy lifestyle habits can help reduce this risk. The prothrombin gene plays a crucial ...
A genetic fault long believed to drive the development of esophageal cancer may in fact play a protective role early in the disease, according to new research published in Nature Cancer. This ...
Scientists have identified mutations in the CPD gene as a key cause of a rare congenital hearing loss, revealing how disruptions in arginine and nitric oxide signaling damage sensory cells in the ear.
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