In preliminary experiments with mice and lab-grown cells, Johns Hopkins Kimmel Cancer Center scientists have found that a protein-signaling process accelerates the work of the gene most frequently ...

Factoring out nucleotide-level mutation biases from antibody language models dramatically improves prediction of functional mutation effects while reducing computational cost by orders of magnitude.

Researchers at the Institute for Bioengineering of Catalonia (IBEC) have produced a mutational map showing how mutations in ...

Some genetic mutations that are expected to completely stop a gene from working surprisingly cause only mild or even no symptoms. Researchers in previous studies have discovered one reason why: cells ...

Learn how MTHFR mutations are linked to migraine with aura and why the science on treatments like methylfolate remains mixed.

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.

Emily Kramer-Golinkoff can’t get enough oxygen with each breath. Advanced cystic fibrosis makes even simple things like walking or showering arduous and exhausting. She has the most common fatal ...

A study by the Institute for Bioengineering of Catalonia (IBEC) has created a mutational map of the hormone amylin, the aggregation of which can damage pancreatic cells and lead to type 2 diabetes.