ascopubs.org

AlphaMissense for Identifying Pathogenic Missense Mutations in DNA Damage Repair Genes in Cancer

Relationship Among DNA Damage Response Gene Alterations, Molecular Subtypes, and Survival Outcomes in Patients With Metastatic Bladder Cancer Treated on CALGB 90601 Sequencing data from 56,965 ...
BMJ Case Reports

Monoallelic PARN mutation presenting as pancytopenia, hepatic fibrosis and idiopathic pulmonary fibrosis

A woman in her late 20s presented with a 5-year history of progressive fatigue and generalised weakness. Examination revealed signs of premature ageing, anaemia, neuropathy and hepatosplenomegaly.
EurekAlert!

A rare missense variant in STAT6 that protects against asthma

Kari Stefansson CEO of deCODE genetics with Guðmundur Nordahl, Thorunn A. Olafsdottir and Katla Kristjansdottir, scientists at deCODE genetics and authors on the paper. Scientists at deCODE genetics, ...
News Medical

Most disease-causing mutations that swap amino acids do so by making proteins less stable

A comprehensive analysis of over 500,000 human protein variants reveals that 60% of disease-causing missense mutations reduce protein stability In a recent study published in Nature, researchers used ...
GEN

Single Drug Could Stabilize Nearly All Mutated Versions of a Human GPCR

A study headed by researchers at the Centre for Genomic Regulation (CRG) in Barcelona has provided for the first time evidence that a single drug, already licensed for medical use, can stabilize ...