Medical Xpress

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 ...
Nature

Frameshift variation in the HMG-CoA reductase gene and unresponsiveness to cholesterol-lowering drugs in type 2 diabetes mellitus patients

Dyslipidemia, an imbalance in blood lipid levels, is a frequent complication of type 2 diabetes mellitus (DM2) and heightens the risk of cardiovascular diseases (CVDs). Statins, which inhibit ...
Nature

Alternative production of pro-death Bax∆2 protein via ribosomal frameshift in Alzheimer’s disease

Pro-death Bax family member, Bax∆2, forms protein aggregates in Alzheimer’s disease neurons and causes stress granule-mediated neuronal death. Production of Bax∆2 originated from two events: ...
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).