Exploring mutations that spontaneously switch on a key brain cell receptor

Many people are familiar with histamine, a biological molecule that serves as a key driver of allergic reactions and other ...
Nature

Use of MALDI-TOF mass spectrometry in a 51-mutation test for cystic fibrosis: Evidence that 3199del6 is a disease-causing mutation

Purpose: We developed a 51-mutation extended cystic fibrosis (CF) panel that incorporates the 25 previously recommended CFTR mutations, plus 26 additional mutations including 3199del6, which was ...
Nature

Four Novel Dystrophin Point Mutations: Detection by Protein Truncation Test and Transcript Analysis in Lymphocytes from Duchenne Muscular Dystrophy Patients

Duchenne (DMD) and Becker (BMD) muscular dystrophies are allelic neuromuscular disorders which are caused by defects of the dystrophin gene, one third of which arising from new mutations. This 2.5-Mb ...
Healio

Lung Cancer News

Cancer mortality has declined by more than 40% among young adults in the U.S. since 1990, according to study results. Older adults with advanced cancer are spending more time than ever interacting ...