Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.R50G
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KCNJ11

NM_000525.4:p.R50G

Associated Papers

Molecular and Clinical Profiles of Pediatric Monogenic Diabetes Subtypes: Comprehensive Genetic Analysis of 138 Patients.

Zhou Q et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

A Japanese school urine screening program led to the diagnosis of KCNJ11-MODY: A case report.

Hattori A et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2024

Clinical characteristics, growth patterns, and long-term diabetes complications of 24 patients with neonatal diabetes mellitus: A single center experience.

Mouler M et al.

Pediatric Diabetes, 2022

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

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

Pipatpolkai T et al.

Nature Reviews. Endocrinology, 2020

Sensitivity of KATP channels to cellular metabolic disorders and the underlying structural basis.

Li CG et al.

Acta Pharmacologica Sinica, 2016

Amino acid properties may be useful in predicting clinical outcome in patients with Kir6.2 neonatal diabetes.

Fraser CS et al.

European Journal of Endocrinology, 2012

Improved diabetic control during oral sulfonylurea treatment in two children with permanent neonatal diabetes mellitus.

Ting WH et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 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

Molecular basis of neonatal diabetes in Japanese patients.

Suzuki S et al.

The Journal of Clinical Endocrinology and Metabolism, 2007

ATP sensitivity of ATP-sensitive K+ channels: role of the gamma phosphate group of ATP and the R50 residue of mouse Kir6.2.

John SA et al.

The Journal of Physiology, 2005

Regulation of the ATP-sensitive K channel Kir6.2 by ATP and PIP(2).

Ribalet B et al.

Journal of Molecular and Cellular Cardiology, 2005

Functional analysis of a structural model of the ATP-binding site of the KATP channel Kir6.2 subunit.

Antcliff JF et al.

The Embo Journal, 2005

Molecular mechanism for ATP-dependent closure of the K+ channel Kir6.2.

John SA et al.

The Journal of Physiology, 2003

Molecular basis for Kir6.2 channel inhibition by adenine nucleotides.

Ribalet B et al.

Biophysical Journal, 2003

Mutations in the linker domain of NBD2 of SUR inhibit transduction but not nucleotide binding.

Matsuo M et al.

The Embo Journal, 2002

K(ATP) channels and insulin secretion disorders.

Huopio H et al.

American Journal of Physiology. Endocrinology and Metabolism, 2002

Multiple sites of interaction between the intracellular domains of an inwardly rectifying potassium channel, Kir6.2.

Jones PA et al.

Febs Letters, 2001

Functional analysis of a mutant sulfonylurea receptor, SUR1-R1420C, that is responsible for persistent hyperinsulinemic hypoglycemia of infancy.

Matsuo M et al.

The Journal of Biological Chemistry, 2000

Mapping of the physical interaction between the intracellular domains of an inwardly rectifying potassium channel, Kir6.2.

Tucker SJ et al.

The Journal of Biological Chemistry, 1999

The role of lysine 185 in the kir6.2 subunit of the ATP-sensitive channel in channel inhibition by ATP.

Reimann F et al.

The Journal of Physiology, 1999

Molecular determinants of KATP channel inhibition by ATP.

Tucker SJ et al.

The Embo Journal, 1998

MgATP activates the beta cell KATP channel by interaction with its SUR1 subunit.

Gribble FM et al.

Proceedings of the National Academy of Sciences of the United States of America, 1998

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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."