technologynetworks

Missense, Nonsense and Frameshift Mutations: A Genetic Guide

The information that is carried by the genetic code provides a set of "instructions" for "building" and "maintaining" a living organism. A useful analogy might be to think of the genetic code being ...
EurekAlert!

Identification of a novel frameshift mutation in the SCNN1B causing Liddle syndrome

Hypertension is a cardiovascular disease that seriously threatens global public health. Early and effective control of blood pressure can prevent the occurrence of target organ damage and ...
EurekAlert!

C-terminal frameshift mutations generate viable knockout mutants with developmental defects for three essential protein kinases

Beijing Zhongke Journal Publising Co. Ltd. This study is led by Professor Kabin Xie (Institute of Huazhong Agricultural University College of Plant Science and Technology, Wuhan, China).
CMAJ

A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series

Background: Glycogen storage disease type III is caused by mutations in both alleles of the AGL gene, which leads to reduced activity of glycogen-debranching enzyme. The clinical picture encompasses ...
ascopubs.org

Hotspot BRCA1/2 Mutations in Tumors With Microsatellite Instability Suggest Passenger Mutation Status and Evaluation of Therapeutic Options

Factors Affecting Genomic Testing in Prostate Cancer: Results From the Decision-Making, Experience, and Confidence In Determining Genomic Evaluation (DECIDE) Survey Awareness of passenger mutation ...