mutation

(MedPage Today) -- A rare inherited disorder known as cold urticaria results from a gain-of-function mutation in an immune system component that explains the condition's bizarre web of symptoms, researchers said.

(MedPage Today) -- Researchers are reporting they can correct the mutation that causes an inherited liver disease, at least in the lab and in animals.

The FDA today approved Zelboraf (vemurafenib) for the treatment of advanced or metastatic melanoma.

The drug extends survival for the 50% of melanoma patients whose tumors carry the BRAF mutation.

(Cell Press) The research, published by Cell Press in the Dec. 9 issue of the journal Neuron, implicates defects in a cellular pathway linked with degradation of unwanted proteins in the underlying pathology of ALS and provides new insight into this incurable and fatal neurodegenerative disease.

(Washington University School of Medicine) Scientists have shown that a specific virus can interact with a mutation in the host's genes to trigger disease.

The observation may help explain why many people with disease risk genes do not actually develop disease.

BARCELONA (MedPage Today) -- Women with mutation-related breast cancer lived just as long with breast-conserving surgery as they did with mastectomy, data from longitudinal clinical studies showed.

BEIJING (AP) -- China has detected eight cases of swine flu mutation, a health official said Wednesday, amid longstanding concerns among scientists that the virus could change into a more dangerous form....

The CDC is keeping a careful eye on a mutation in some strains of the pandemic H1N1 flu that Norwegian researchers isolated from three patients with severe disease.

SAN ANTONIO -- A mutation that protects some blacks from malaria also makes them more easily infected by HIV, researchers here said.