Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.N48D
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KCNJ11

NM_000525.4:p.N48D

Associated Papers

Phenotypic features, prevalence of KCNJ11-MODY in Chinese patients with early-onset diabetes and a literature review.

Ba T et al.

Clinical Endocrinology, 2024

A novel mutation KCNJ11 R136C caused KCNJ11-MODY.

Chen Y et al.

Diabetology & Metabolic Syndrome, 2021

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

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 value of in vitro studies in a case of neonatal diabetes with a novel Kir6.2-W68G mutation.

O'Connell SM et al.

Clinical Case Reports, 2015

Genetics and pathophysiology of neonatal diabetes mellitus.

Naylor RN et al.

Journal of Diabetes Investigation, 2011

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

Lang V et al.

Pharmacogenomics and Personalized Medicine, 2010

Glibenclamide treatment in relapsed transient neonatal diabetes as a result of a KCNJ11 activating mutation (N48D).

Martín-Frías M et al.

Diabetic Medicine : a Journal of the British Diabetic Association, 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."