A Novel Form of Short QT Syndrome (SQT3) Is Caused by a Mutation in the KCNJ2 Gene

No abstract is available for this paper.

• Publication year

  2005

• Venue

  Circulation Research

• Publication date

  2005-04-15

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1161/01.RES.0000162101.76263.8cPMID 15761194
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Genetics of cardiac arrhythmias

  2005cited by this paper
• Transgenic upregulation of IK1 in the mouse heart leads to multiple abnormalities of cardiac excitability.

  2004cited by this paper
• Biophysic Properties of Inward Rectifier Potassium Channels

  2004influential reference
• Short QT syndrome: pharmacological treatment.

  2004influential reference
• Low birth weight and increased sympathetic activity.

  2004cited by this paper
• Mutation in the KCNQ1 Gene Leading to the Short QT-Interval Syndrome

  2004cited by this paper
• Is idiopathic ventricular fibrillation a short QT syndrome? Comparison of QT intervals of patients with idiopathic ventricular fibrillation and healthy controls.

  2004cited by this paper
• In silico study of action potential and QT interval shortening due to loss of inactivation of the cardiac rapid delayed rectifier potassium current.

  2004cited by this paper
• Mechanism of Rectification in Inward-rectifier K+ Channels

  2003cited by this paper
• Blockade of the Inward Rectifying Potassium Current Terminates Ventricular Fibrillation in the Guinea Pig Heart

  2003cited by this paper
• A common polymorphism in KCNH2 (HERG) hastens cardiac repolarization.

  2003cited by this paper
• Sudden Death Associated With Short-QT Syndrome Linked to Mutations in HERG

  2003cited by this paper
• Functional role of inward rectifier current in heart probed by Kir2.1 overexpression and dominant-negative suppression.

  2003cited by this paper
• Mechanism of Discordant T Wave Alternans in the In Vivo Heart

  2003cited by this paper
• Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen's syndrome

  2002cited by this paper
• Ionic mechanism of electrical alternans.

  2002cited by this paper
• A computationally efficient electrophysiological model of human ventricular cells.

  2002cited by this paper
• Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome.

  2001cited by this paper
• Idiopathic Short QT Interval:A New Clinical Syndrome?

  2001cited by this paper
• The consequences of disrupting cardiac inwardly rectifying K+ current (IK1) as revealed by the targeted deletion of the murine Kir2.1 and Kir2.2 genes

  2001cited by this paper
• Control of rectification and permeation by two distinct sites after the second transmembrane region in Kir2.1 K+ channel

  2001cited by this paper
• Rectification of the Background Potassium Current: A Determinant of Rotor Dynamics in Ventricular Fibrillation

  2001influential reference
• The Genetics of Cardiac Arrhythmias

  2000cited by this paper
• Mechanisms of Discordant Alternans and Induction of Reentry in Simulated Cardiac Tissue

  2000cited by this paper
• QT interval is linked to 2 long-QT syndrome loci in normal subjects.

  1999cited by this paper
• Ionic targets for drug therapy and atrial fibrillation-induced electrical remodeling: insights from a mathematical model.

  1999cited by this paper
• Inhibition of rat ventricular I K1 with antisense oligonucleotides targeted to Kir2.1 mRNA.

  1998cited by this paper
• Simulation study of cellular electric properties in heart failure.

  1998cited by this paper
• Spiral waves in two-dimensional models of ventricular muscle: formation of a stationary core.

  1998influential reference
• Inward rectifier potassium channels.

  1997cited by this paper
• Control of rectification and permeation by residues in two distinct domains in an inward rectifier K+ channel.

  1995cited by this paper
• Andersen's syndrome: Potassium‐sensitive periodic paralysis, ventricular ectopy, and dysmorphic features

  1994cited by this paper
• The spectrum of symptoms and QT intervals in carriers of the gene for the long-QT syndrome.

  1992cited by this paper
• Cardiac Electrophysiology: From Cell to Bedside

  1990cited by this paper
• INTERMITTENT MUSCULAR WEAKNESS, EXTRASYSTOLES, AND MULTIPLE DEVELOPMENTAL ANOMALIES

  1971cited by this paper

• Translating cardiovascular ion channel and Ca2+ signalling mechanisms into therapeutic insights.

  2026cites this paper
• JCS/JCC/JSPCCS 2024 Guideline on Genetic Testing and Counseling in Cardiovascular Disease.

  2025cites this paper
• Ventricular ion channels and arrhythmias: an overview of physiology, pathophysiology and pharmacology

  2025cites this paper
• The Latest Advances in Omics Technology for Assessing Tissue Damage: Implications for the Study of Sudden Cardiac Death

  2025cites this paper
• Cardiac Channelopathies in the Pediatric Patient: Short QT Syndrome.

  2025cites this paper
• The Uncommon Phenomenon of Short QT Syndrome: A Scoping Review of the Literature

  2025cites this paper
• Short QT Syndrome and Drug Treatment: A systematic Literature Review and PRISMA Analysis

  2025cites this paper
• Sudden cardiac arrest: Limitations in risk-stratification and treatment, and the potential for digital technologies and artificial intelligence to improve prediction and outcomes.

  2025cites this paper
• Biphasic effects on human atrial arrhythmogenicity of L-type calcium channel mutations associated with a Brugada/Short QT overlap syndrome - insights from a multiscale simulation study

  2025cites this paper
• Ion channel expression in intrinsic cardiac neurons: new players in cardiac channelopathies?

  2025cites this paper
• Characterization of Next-Generation Inhibitors for the Inward-Rectifier Potassium Channel Kir2.1: Discovery of VU6080824.

  2025cites this paper
• Inwardly rectifying potassium channels (KIR) in GtoPdb v.2025.4

  2025cites this paper
• Exercise practice and short-QT interval on ECG.

  2025cites this paper
• A Comprehensive Review of a Mechanism-Based Ventricular Electrical Storm Management

  2025cites this paper
• Inwardly rectifying potassium channels (KIR) in GtoPdb v.2025.3

  2025cites this paper
• Alleviating the Effects of Short QT Syndrome Type 3 by Allele-Specific Suppression of the KCNJ2 Mutant Allele

  2024cites this paper
• The Kir2.1E299V mutation increases atrial fibrillation vulnerability while protecting the ventricles against arrhythmias in a mouse model of short QT syndrome type 3

  2024cites this paper
• Human Kir2.1 Potassium Channel: Protocols for Cryo-EM Data Processing and Molecular Dynamics Simulations.

  2024cites this paper
• Molecular Pathways and Animal Models of Arrhythmias.

  2024cites this paper
• Pathophysiology of Atrial Fibrillation and Approach to Therapy in Subjects Less than 60 Years Old

  2024cites this paper
• Congenial short QT syndrome: A review focused on electrocardiographic features.

  2024cites this paper
• The Genetic Basis of Sudden Cardiac Death: From Diagnosis to Emerging Genetic Therapies

  2024cites this paper
• JCS/JCC/JSPCCS 2024 Guideline on Genetic Testing and Counseling in Cardiovascular Disease.

  2024cites this paper
• Sudden death in epilepsy: the overlap between cardiac and neurological factors

  2024cites this paper
• Inherited Arrhythmias in the Pediatric Population: An Updated Overview

  2024cites this paper
• The network of cardiac KIR2.1: its function, cellular regulation, electrical signaling, diseases and new drug avenues

  2024influential citation
• Inwardly rectifying potassium channels (KIR) in GtoPdb v.2023.1

  2023cites this paper
• Dronedarone's Efficacy in Preventing Arrhythmias During Myocardial Ischemia or Short QT Syndrome: A Computational Study

  2023cites this paper
• Precision Medicine and Cardiac Channelopathies:Human iPSCs take the lead.

  2023cites this paper
• Handbook of Ion Channels

  2023cites this paper
• Genetic analysis identifies the SLC4A3 anion exchanger as a major gene for short QT syndrome.

  2023cites this paper
• Artificial Intelligence ECG Analysis in Patients with Short QT Syndrome to Predict Life-Threatening Arrhythmic Events

  2023cites this paper
• Pro-arrhythmic effects of gain-of-function potassium channel mutations in the short QT syndrome

  2023cites this paper
• Cryo–electron microscopy unveils unique structural features of the human Kir2.1 channel

  2022cites this paper
• Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning

  2022cites this paper
• Racial Disparities in Ion Channelopathies and Inherited Cardiovascular Diseases Associated With Sudden Cardiac Death

  2022cites this paper
• Molecular stratification of arrhythmogenic mechanisms in the Andersen Tawil syndrome

  2022cites this paper
• The Genetics and Epigenetics of Ventricular Arrhythmias in Patients Without Structural Heart Disease

  2022cites this paper
• Computational analysis of arrhythmogenesis in KCNH2 T618I mutation-associated short QT syndrome and the pharmacological effects of quinidine and sotalol

  2022cites this paper
• Closed-channel block of BK potassium channels by bbTBA requires partial activation

  2022influential citation
• Variable Clinical Appearance of the Kir2.1 Rare Variants in Russian Patients with Long QT Syndrome

  2022influential citation
• European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases

  2022cites this paper
• European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases.

  2022cites this paper
• Investigation of the Effects of the Short QT Syndrome D172N Kir2.1 Mutation on Ventricular Action Potential Profile Using Dynamic Clamp

  2022cites this paper
• Clinical Genetics of Inherited Arrhythmogenic Disease in the Pediatric Population

  2022cites this paper
• Detecting Cardiovascular Protein-Protein Interactions by Proximity Proteomics

  2022cites this paper
• European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases

  2022cites this paper
• Inward Rectifier Potassium (Kir) Channels in the Retina: Living our Vision.

  2022cites this paper
• Challenges and innovation: Disease modeling using human-induced pluripotent stem cell-derived cardiomyocytes

  2022cites this paper
• Next-generation sequencing of postmortem molecular markers to support for medicolegal autopsy

  2022cites this paper
• Inwardly Rectifying Potassium Channel Kir2.1 and its “Kir-ious” Regulation by Protein Trafficking and Roles in Development and Disease

  2022cites this paper
• The 9-methyl group of retinal is essential for rapid Meta II decay The 9-methyl group of retinal is essential for rapid Meta II decay and phototransduction quenching in red cones and phototransduction quenching in red cones

  2022cites this paper
• Exercise in the Genetic Arrhythmia Syndromes - A Review.

  2022cites this paper
• Next-generation inward rectifier potassium channel modulators: Discovery and molecular pharmacology.

  2021cites this paper
• Targeting of Potassium Channels in Cardiac Arrhythmias.

  2021cites this paper
• Cardiac potassium inward rectifier Kir2: Review of structure, regulation, pharmacology, and arrhythmogenesis

  2021cites this paper
• Towards Mutation-Specific Precision Medicine in Atypical Clinical Phenotypes of Inherited Arrhythmia Syndromes

  2021influential citation
• A carvedilol analogue, VK‐II‐86, prevents hypokalaemia‐induced ventricular arrhythmia through novel multi‐channel effects

  2021cites this paper
• Envisioning the role of inwardly rectifying potassium (Kir) channel in epilepsy

  2021cites this paper
• Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death

  2021cites this paper
• Ventricular voltage‐gated ion channels: Detection, characteristics, mechanisms, and drug safety evaluation

  2021cites this paper
• The genetic basis of sudden death in young people - cardiac and non-cardiac.

  2021cites this paper
• Alternans and 2-D Spiral Wave Dynamics in Human Atria with Short QT Syndrome Variant 3: A Simulation Study

  2021cites this paper
• Computational Analysis of the Effects of KCNJ2-linked E299V Mutation Short QT Syndrome and Its Potential Therapeutic Targets

  2021cites this paper
• Cardiac K+ Channels and Channelopathies.

  2021cites this paper
• Sensitivity Analysis of Ion Channel Conductance on Myocardial Electromechanical Delay: Computational Study

  2021cites this paper
• In Silico Investigation of CACNA2D1 S755T Mutation Associated With Short QT Syndrome

  2021cites this paper
• Ion Channel Gene Mutations Causing Skeletal Muscle Disorders: Pathomechanisms and Opportunities for Therapy

  2021cites this paper
• Preclinical short QT syndrome models: studying the phenotype and drug-screening.

  2021cites this paper
• Overlap Arrhythmia Syndromes Resulting from Multiple Genetic Variations Studied in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes

  2021cites this paper
• Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome

  2021cites this paper
• Mechanisms Underlying the Development of Cardiac Arrhythmias

  2020cites this paper
• SCN5A Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in SCN5A Families

  2020cites this paper
• Congenital short-QT syndrome

  2020cites this paper
• Cardiac Transmembrane Ion Channels and Action Potentials: Cellular Physiology and Arrhythmogenic Behavior.

  2020cites this paper
• Short QT syndrome: The current evidences of diagnosis and management

  2020cites this paper
• Andersen–Tawil Syndrome

  2020cites this paper
• Modulating human iPSC-CM electrophysiology for in vitro drug screening

  2020cites this paper
• Electrocardiography of Inherited Arrhythmias and Cardiomyopathies: From Basic Science to Clinical Practice

  2020cites this paper
• Stabilizer Cell Gene Therapy

  2020cites this paper
• Inherited cardiac arrhythmias

  2020cites this paper
• Clinical Cardiogenetics

  2020influential citation
• European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) expert consensus on risk assessment in cardiac arrhythmias: use the right tool for the right outcome, in the right population

  2020cites this paper
• Common Genetic Variants Modulate the Electrocardiographic Tpeak-to-Tend Interval

  2020cites this paper
• Towards the Development of AgoKirs: New Pharmacological Activators to Study Kir2.x Channel and Target Cardiac Disease

  2020cites this paper
• Precision medicine in cardiac electrophysiology: where we are and where we need to go

  2020cites this paper
• A Molecular Genetic Perspective on Atrial Fibrillation

  2020cites this paper
• European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) expert consensus on risk assessment in cardiac arrhythmias: use the right tool for the right outcome, in the right population

  2020cites this paper
• Kir2.1 Interactome Mapping Uncovers PKP4 as a Modulator of the Kir2.1-Regulated Inward Rectifier Potassium Currents

  2020cites this paper
• Select (cid:2) -arrestins control cell-surface abundance of the mammalian Kir2.1 potassium channel in a yeast model

  2020cites this paper
• Computational Study to Identify the Effects of the KCNJ2 E299V Mutation in Cardiac Pumping Capacity

  2020cites this paper
• European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) expert consensus on risk assessment in cardiac arrhythmias: use the right tool for the right outcome, in the right population.

  2020cites this paper
• Heritable arrhythmias associated with abnormal function of cardiac potassium channels.

  2020cites this paper
• Genetic Loss of IK1 Causes Adrenergic-Induced Phase 3 Early Afterdepolariz ations and Polymorphic and Bidirectional Ventricular Tachycardia

  2020cites this paper
• Computational prediction of the effect of D172N KCNJ2 mutation on ventricular pumping during sinus rhythm and reentry

  2020cites this paper
• Specific Cardiovascular Diseases and Competitive Sports Participation: Channelopathies

  2020cites this paper
• Short QT Syndrome

  2020cites this paper
• Inwardly rectifying potassium channels (version 2019.4) in the IUPHAR/BPS Guide to Pharmacology Database

  2019cites this paper
• Rare but lethal short QT syndrome: most recent understanding of the disease

  2019influential citation
• Pharmacotherapeutic Effects of Quinidine on Short QT Syndrome by Using Purkinje-Ventricle Model: A Simulation Study

  2019cites this paper