Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.E292G
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KCNJ11

NM_000525.4:p.E292G

Associated Papers

Continuous spectrum of glucose dysmetabolism due to the KCNJ11 gene mutation-Case reports and review of the literature.

He B et al.

Journal of Diabetes, 2021

Molecular Genetics, Clinical Characteristics, and Treatment Outcomes of KATP-Channel Neonatal Diabetes Mellitus in Vietnam National Children's Hospital.

Ngoc CTB et al.

Frontiers in Endocrinology, 2021

Neonatal diabetes due to potassium channel mutation: Response to sulfonylurea according to the genotype.

Garcin L et al.

Pediatric Diabetes, 2020

New insights into KATP channel gene mutations and neonatal diabetes mellitus.

Pipatpolkai T et al.

Nature Reviews. Endocrinology, 2020

Neonatal diabetes caused by a homozygous KCNJ11 mutation demonstrates that tiny changes in ATP sensitivity markedly affect diabetes risk.

Vedovato N et al.

Diabetologia, 2016

27118464 (PubMed )
Supplement: 125_2016_3964_MOESM1_ESM.pdf

The molecular mechanisms and pharmacotherapy of ATP-sensitive potassium channel gene mutations underlying neonatal diabetes.

Lang V et al.

Pharmacogenomics and Personalized Medicine, 2010

Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism.

Shimomura K et al.

Embo Molecular Medicine, 2009

Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism.

Flanagan SE et al.

Human Mutation, 2009

Neonatal diabetes mellitus.

Aguilar-Bryan L et al.

Endocrine Reviews, 2008

The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities.

Rica I et al.

Diabetic Medicine : a Journal of the British Diabetic Association, 2007

Functional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes.

Girard CA et al.

Pflugers Archiv : European Journal of Physiology, 2006

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."