loss of function | GenomeWeb

loss of function

A study in NEJM found that rare, loss-of-function mutations in the asialoglycoprotein receptor gene coincide with lower non-HDL levels and decreased coronary artery disease risk.

Investigators looked at potential health impacts for the rare, homozygous loss-of-function mutations they detected in 3,200 British-Pakistani individuals.

Independent research groups garnered evidence that mutations to the ANGPTL4 gene can lower blood triglyceride levels and reduce coronary artery disease risk.

An international team tracked down de novo mutations in the CHAMP1 gene in five children with intellectual and motor delays, speech impairment, and other symptoms.

The University of Florida Academic Health Center this week launched a new personalized medicine effort in which all patients visiting its catheterization lab will receive a multi-gene test that will be used to discern whether they are likely to respond to the anti-platelet drug c

Findings in a NEJM study this week challenged previously reported data that alleles in the CYP2C19 gene can limit how certain carriers of the polymorphisms respond to Plavix.

In Science this week: genetic target for urothelial bladder cancer treatment, and more.

At the Conversation, the University of Oxford's Michael Macklay writes that learning genetic risk of disease is a personal decision.

Two dozen scientific organizations have endorsed the March for Science, according to ScienceInsider.

Researchers in Japan describe a chimpanzee with a chromosomal abnormality similar to human Down syndrome, Mashable reports.