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loss of function

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.

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In a cartoon, Vox explores the lack of women among this year's winners of the Nobel Prize.

Science reports a new US defense bill would establish two groups aimed at combating foreign influence on research. 

Nature Biotechnology discusses promising early results from two clinical trials of CRISPR-based therapy for β-thalassemia and sickle cell disease.

In Cell this week: analysis of tissue clones, metagenomic studies of ocean water samples, and more.