Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.G334D
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KCNJ11

NM_000525.4:p.G334D

Associated Papers

Kir6.2 channel activity is regulated by interaction of transmembrane domains 1 and 2 through I167 in the bundle-crossing gate.

Kawashima R et al.

Physiological Reports, 2025

A fluorescent probe for the enzymatic activity of KATP.

Rubio P et al.

Biorxiv : the Preprint Server for Biology, 2025

Diagnosis and Treatment of Neonatal Diabetes Caused by ATP-Channel Mutations: Genetic Insights, Sulfonylurea Therapy, and Future Directions.

Trada M et al.

Children (basel, Switzerland), 2025

The Association between PTPN22 SNPs and susceptibility to type 1 diabetes: An updated meta-analysis.

Su Y et al.

Plos One, 2025

40238817 (PubMed )
Supplement: pone.0321624.s007.xls › Literature_Search

KATP channel mutation disrupts hippocampal network activity and nocturnal gamma shifts.

Burkart ME et al.

Brain : a Journal of Neurology, 2024

Dynamic duo: Kir6 and SUR in KATP channel structure and function.

Patton BL et al.

Channels (austin, Tex.), 2024

Structure of an open KATP channel reveals tandem PIP2 binding sites mediating the Kir6.2 and SUR1 regulatory interface.

Driggers CM et al.

Nature Communications, 2024

Structure of an open K ATP channel reveals tandem PIP 2 binding sites mediating the Kir6.2 and SUR1 regulatory interface.

Driggers CM et al.

Biorxiv : the Preprint Server for Biology, 2024

KATP channels in focus: Progress toward a structural understanding of ligand regulation.

Martin GM et al.

Current Opinion in Structural Biology, 2023

Mechanistic insights on KATP channel regulation from cryo-EM structures.

Driggers CM et al.

The Journal of General Physiology, 2023

Oxidation Driven Reversal of PIP2-dependent Gating in GIRK2 Channels.

Lee SJ et al.

Function (oxford, England), 2023

REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants.

Hopkins JJ et al.

Human Mutation, 2023

40225155 (PubMed )
Supplement: 8857940.f1.pdf

Ligand-mediated Structural Dynamics of a Mammalian Pancreatic KATP Channel.

Sung MW et al.

Journal of Molecular Biology, 2022

The dynamic interplay of PIP2 and ATP in the regulation of the KATP channel.

Pipatpolkai T et al.

The Journal of Physiology, 2022

Kir6.1 and SUR2B in Cantú syndrome.

McClenaghan C et al.

American Journal of Physiology. Cell Physiology, 2022

Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.

Coyote-Maestas W et al.

Elife, 2022

35639599 (PubMed )
Supplement: elife-76903-data1.zip › SourceData › input_data › KCNJ_Clinvar_0325322_edited_annotations_.xlsx › clinvar_KCNJx_0325322

Sulfonylurea-Insensitive Permanent Neonatal Diabetes Caused by a Severe Gain-of-Function Tyr330His Substitution in Kir6.2.

McClenaghan C et al.

Hormone Research in Paediatrics, 2022

Case report: coeliac disease as a cause of secondary failure of glibenclamide therapy in a patient with permanent neonatal diabetes due to KCNJ11/R201C mutation.

Iafusco D et al.

Diabetologia, 2021

The KCNJ11-E23K Gene Variant Hastens Diabetes Progression by Impairing Glucose-Induced Insulin Secretion.

Sachse G et al.

Diabetes, 2021

Structure based analysis of KATP channel with a DEND syndrome mutation in murine skeletal muscle.

Horita S et al.

Scientific Reports, 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

Clinical features and partial proportional molecular genetics in neonatal diabetes mellitus: a retrospective analysis in southwestern China.

Cao L et al.

Endocrine, 2020

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

Pipatpolkai T et al.

Nature Reviews. Endocrinology, 2020

Nucleotide inhibition of the pancreatic ATP-sensitive K+ channel explored with patch-clamp fluorometry.

Usher SG et al.

Elife, 2020

Precision Medicine: Long-Term Treatment with Sulfonylureas in Patients with Neonatal Diabetes Due to KCNJ11 Mutations.

Letourneau LR et al.

Current Diabetes Reports, 2019

ATP binding without hydrolysis switches sulfonylurea receptor 1 (SUR1) to outward-facing conformations that activate KATP channels.

Sikimic J et al.

The Journal of Biological Chemistry, 2019

Activation mechanism of ATP-sensitive K+ channels explored with real-time nucleotide binding.

Puljung M et al.

Elife, 2019

A novel high-affinity inhibitor against the human ATP-sensitive Kir6.2 channel.

Ramu Y et al.

The Journal of General Physiology, 2018

Neonatal Diabetes: Two Cases with Isolated Pancreas Agenesis due to Homozygous PTF1A Enhancer Mutations and One with Developmental Delay, Epilepsy, and Neonatal Diabetes Syndrome due to KCNJ11 Mutation

Evliyaoğlu O et al.

Journal of Clinical Research in Pediatric Endocrinology, 2018

Cryo-electron microscopy structures and progress toward a dynamic understanding of KATP channels.

Puljung MC

The Journal of General Physiology, 2018

Early transition from insulin to sulfonylureas in neonatal diabetes and follow-up: Experience from China.

Li X et al.

Pediatric Diabetes, 2018

Molecular structure of human KATP in complex with ATP and ADP.

Lee KPK et al.

Elife, 2017

First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene-intron 1 mutation c.204+2T>G.

Pomahačová R et al.

Pediatric Diabetes, 2017

KATP Channel Mutations and Neonatal Diabetes.

Shimomura K et al.

Internal Medicine (tokyo, Japan), 2017

Neonatal Diabetes and the KATP Channel: From Mutation to Therapy.

Ashcroft FM et al.

Trends in Endocrinology and Metabolism: Tem, 2017

Preservation of Reduced Numbers of Insulin-Positive Cells in Sulfonylurea-Unresponsive KCNJ11-Related Diabetes.

Greeley SA et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

Running out of time: the decline of channel activity and nucleotide activation in adenosine triphosphate-sensitive K-channels.

Proks P et al.

Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2016

The Nucleotide-Binding Sites of SUR1: A Mechanistic Model.

Vedovato N et al.

Biophysical Journal, 2015

Molecular action of sulphonylureas on KATP channels: a real partnership between drugs and nucleotides.

de Wet H et al.

Biochemical Society Transactions, 2015

Age at the time of sulfonylurea initiation influences treatment outcomes in KCNJ11-related neonatal diabetes.

Thurber BW et al.

Diabetologia, 2015

Sulfonylurea receptors regulate the channel pore in ATP-sensitive potassium channels via an intersubunit salt bridge.

Lodwick D et al.

The Biochemical Journal, 2014

Sulfonylureas suppress the stimulatory action of Mg-nucleotides on Kir6.2/SUR1 but not Kir6.2/SUR2A KATP channels: a mechanistic study.

Proks P et al.

The Journal of General Physiology, 2014

Molecular mechanism of sulphonylurea block of K(ATP) channels carrying mutations that impair ATP inhibition and cause neonatal diabetes.

Proks P et al.

Diabetes, 2013

ATP and sulfonylurea linkage in the K(ATP) channel solves a diabetes puzzler.

Drain P

Diabetes, 2013

Hypotension due to Kir6.1 gain-of-function in vascular smooth muscle.

Li A et al.

Journal of the American Heart Association, 2013

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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."