KCNJ2 mutation in short QT syndrome 3 results in atrial fibrillation and ventricular proarrhythmia

scientific article published on 25 February 2013

KCNJ2 mutation in short QT syndrome 3 results in atrial fibrillation and ventricular proarrhythmia is …
instance of (P31):
scholarly articleQ13442814

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P819ADS bibcode2013PNAS..110.4291D
P356DOI10.1073/PNAS.1218154110
P932PMC publication ID3600465
P698PubMed publication ID23440193
P5875ResearchGate publication ID235729801

P50authorMarina CerroneQ38327725
José JalifeQ41499141
Silvia PrioriQ42867536
Marco DenegriQ64216365
P2093author name stringOmer Berenfeld
Sandeep V Pandit
Yanfei Ruan
Sami F Noujaim
Kushal Shah
Andrew Blaufox
Makarand Deo
P2860cites workA novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 geneQ24297875
Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6)Q28117761
Control of rectification and permeation by two distinct sites after the second transmembrane region in Kir2.1 K+ channelQ28360309
Simulation of the undiseased human cardiac ventricular action potential: model formulation and experimental validationQ28478313
Chloroquine terminates stretch-induced atrial fibrillation more effectively than flecainide in the sheep heartQ30517295
Role of ER export signals in controlling surface potassium channel numbersQ32035698
Specific and slow inhibition of the kir2.1 K+ channel by gambogic acidQ33430194
The anti-protozoal drug pentamidine blocks KIR2.x-mediated inward rectifier current by entering the cytoplasmic pore region of the channel.Q33772899
Short QT syndrome: from bench to bedside.Q34102891
Structural bases for the different anti-fibrillatory effects of chloroquine and quinidineQ34575313
Human atrial action potential and Ca2+ model: sinus rhythm and chronic atrial fibrillationQ35528532
Merging functional studies with structures of inward-rectifier K+ channelsQ35584086
The molecular basis of chloroquine block of the inward rectifier Kir2.1 channelQ36446243
Evidence for the direct interaction of spermine with the inwardly rectifying potassium channelQ37377763
Tamoxifen inhibits inward rectifier K+ 2.x family of inward rectifier channels by interfering with phosphatidylinositol 4,5-bisphosphate-channel interactionsQ39816851
A Kir2.1 gain-of-function mutation underlies familial atrial fibrillationQ40416086
Arrhythmogenesis by single ectopic beats originating in the Purkinje system.Q42243303
Cytoplasmic domain structures of Kir2.1 and Kir3.1 show sites for modulating gating and rectificationQ46536039
Purkinje-mediated Effects in the Response of Quiescent Ventricles to Defibrillation ShocksQ61919834
A novel gain-of-function KCNJ2 mutation associated with short-QT syndrome impairs inward rectification of Kir2.1 currentsQ82879458
P433issue11
P407language of work or nameEnglishQ1860
P921main subjectAtrial FibrillationQ815819
short QT syndromeQ1484058
proarrhythmiaQ7246836
P304page(s)4291-4296
P577publication date2013-02-25
P1433published inProceedings of the National Academy of Sciences of the United States of AmericaQ1146531
P1476titleKCNJ2 mutation in short QT syndrome 3 results in atrial fibrillation and ventricular proarrhythmia
P478volume110

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cites work (P2860)
Q38174562Advances in modeling ventricular arrhythmias: from mechanisms to the clinic.
Q34626371Atrial Fibrillation and SCN5A Variants
Q28076679Atrial arrhythmias in inherited arrhythmogenic disorders
Q36400524Atrial arrhythmogenicity of KCNJ2 mutations in short QT syndrome: Insights from virtual human atria.
Q37590158Atrial fibrillation: mechanisms, therapeutics, and future directions
Q38111636Atrial selectivity of antiarrhythmic drugs
Q33561535Attraction of rotors to the pulmonary veins in paroxysmal atrial fibrillation: a modeling study.
Q33565907Beyond the Electrocardiogram: Mutations in Cardiac Ion Channel Genes Underlie Nonarrhythmic Phenotypes
Q60721487Cardiac ion channels
Q90045249Characterization of a novel LQT3 variant with a selective efficacy of mexiletine treatment
Q41581199Chloride Channels are Involved in the Development of Atrial Fibrillation - A Transcriptomic and proteomic Study
Q93198497Computational Study to Identify the Effects of the KCNJ2 E299V Mutation in Cardiac Pumping Capacity
Q41873524Computational analysis of the electromechanical consequences of short QT syndrome
Q36113172Computational modeling of cardiac optogenetics: Methodology overview & review of findings from simulations
Q38873891Computational rabbit models to investigate the initiation, perpetuation, and termination of ventricular arrhythmia.
Q42032882Electrophysiologic effects of the IK1 inhibitor PA-6 are modulated by extracellular potassium in isolated guinea pig hearts
Q38834737Electrophysiological and molecular mechanisms of paroxysmal atrial fibrillation
Q26852051Emerging directions in the genetics of atrial fibrillation
Q36808601Functional and Transcriptional Characterization of Histone Deacetylase Inhibitor-Mediated Cardiac Adverse Effects in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes
Q38998704Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism-epilepsy phenotype.
Q58121836Genetics of Atrial Fibrillation
Q38494600Genetics of atrial fibrillation: from families to genomes.
Q38703390Hydrocinnamic Acid Inhibits the Currents of WT and SQT3 Syndrome-Related Mutants of Kir2.1 Channel.
Q33923776Improved understanding of the pathophysiology of atrial fibrillation through the lens of discrete pathological pathways
Q43105783In silico investigation of the short QT syndrome, using human ventricle models incorporating electromechanical coupling
Q51332169Interactive effect of beta-adrenergic stimulation and mechanical stretch on low-frequency oscillations of ventricular action potential duration in humans.
Q26865121Inward rectifiers and their regulation by endogenous polyamines
Q26829681Ion Channels in the Heart
Q28087459Ion channel macromolecular complexes in cardiomyocytes: roles in sudden cardiac death
Q35042164Ion channelopathies in human induced pluripotent stem cell derived cardiomyocytes: a dynamic clamp study with virtual IK1.
Q99586409Long noncoding RNA TCONS-00106987 promotes atrial electrical remodelling during atrial fibrillation by sponging miR-26 to regulate KCNJ2
Q30579851Mathematical approaches to understanding and imaging atrial fibrillation: significance for mechanisms and management
Q90594579Mechanisms by Which Ranolazine Terminates Paroxysmal but Not Persistent Atrial Fibrillation
Q39038606Murine Electrophysiological Models of Cardiac Arrhythmogenesis
Q37604534Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly.
Q34795093Neuroanatomical correlates of atrial fibrillation: a longitudinal MRI study
Q37706496Novel insight into the natural history of short QT syndrome.
Q41919738Optogenetics-enabled dynamic modulation of action potential duration in atrial tissue: feasibility of a novel therapeutic approach.
Q41033530PA-6 inhibits inward rectifier currents carried by V93I and D172N gain-of-function KIR2.1 channels, but increases channel protein expression
Q51246736Partial IK1 blockade destabilizes spiral wave rotation center without inducing wave breakup and facilitates termination of reentrant arrhythmias in ventricles.
Q35722993Rapid and MR-Independent IK1 Activation by Aldosterone during Ischemia-Reperfusion
Q91710597Relationship Between Electrical Instability and Pumping Performance During Ventricular Tachyarrhythmia: Computational Study
Q91961805Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants
Q33642565Short QT and atrial fibrillation: A KCNQ1 mutation-specific disease. Late follow-up in three unrelated children.
Q33168420Short QT syndrome in pediatrics
Q47665926Slow [Na+]i dynamics impacts arrhythmogenesis and spiral wave reentry in cardiac myocyte ionic model
Q39474348Styrax blocks inward and outward current of Kir2.1 channel
Q37523818The Major Role of IK1 in Mechanisms of Rotor Drift in the Atria: A Computational Study
Q38197734The usual suspects in sudden cardiac death of the young: a focus on inherited arrhythmogenic diseases.
Q92968051Understanding AF Mechanisms Through Computational Modelling and Simulations
Q35742142Your Father and Grandfather's Atrial Fibrillation: A Review of the Genetics of the Most Common Pathologic Cardiac Dysrhythmia

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