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Calcium Signaling and Cardiac Arrhythmias

Circulation research, 2017-06, Vol.120 (12), p.1969-1993

2017

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Genetic Testing for Inherited Cardiovascular Diseases: A Scientific Statement From the American Heart Association

Circulation. Genomic and precision medicine, 2020-08, Vol.13 (4), p.e000067-e000067

2020

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Mutation E169K in Junctophilin-2 Causes Atrial Fibrillation Due to Impaired RyR2 Stabilization

Journal of the American College of Cardiology, 2013-11, Vol.62 (21), p.2010-2019

2013

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Genetic Etiology of Left-Sided Obstructive Heart Lesions: A Story in Development

Journal of the American Heart Association, 2021-01, Vol.10 (2), p.e019006-e019006

2021

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Frequency, Penetrance, and Variable Expressivity of Dilated Cardiomyopathy-Associated Putative Pathogenic Gene Variants in UK Biobank Participants

Circulation (New York, N.Y.), 2022-07, Vol.146 (2), p.110-124

2022

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Engineered bacterial voltage-gated sodium channel platform for cardiac gene therapy

Nature communications, 2022-02, Vol.13 (1), p.620-620, Article 620

2022

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Emerging roles of junctophilin-2 in the heart and implications for cardiac diseases

Cardiovascular research, 2014-07, Vol.103 (2), p.198-205

2014

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Author Correction: Engineered bacterial voltage-gated sodium channel platform for cardiac gene therapy

Nature communications, 2023-11, Vol.14 (1), p.7411-7411, Article 7411

2023

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Disrupted Junctional Membrane Complexes and Hyperactive Ryanodine Receptors After Acute Junctophilin Knockdown in Mice

Circulation (New York, N.Y.), 2011-03, Vol.123 (9), p.979-988

2011

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The junctophilin family of proteins: from bench to bedside

Trends in molecular medicine, 2014-06, Vol.20 (6), p.353-362

2014

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Distinguishing Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia–Associated Mutations From Background Genetic Noise

Journal of the American College of Cardiology, 2011-06, Vol.57 (23), p.2317-2327

2011

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BRG1 is a biomarker of hypertrophic cardiomyopathy in human heart specimens

Scientific reports, 2022-05, Vol.12 (1), p.7996-7, Article 7996

2022

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GENESIS: Gene-Specific Machine Learning Models for Variants of Uncertain Significance Found in Catecholaminergic Polymorphic Ventricular Tachycardia and Long QT Syndrome-Associated Genes

Circulation. Arrhythmia and electrophysiology, 2022-04, Vol.15 (4), p.e010326-e010326

2022

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Genetic Testing for Heritable Cardiovascular Diseases in Pediatric Patients: A Scientific Statement From the American Heart Association

Circulation. Genomic and precision medicine, 2021-10, Vol.14 (5), p.e000086-e000086

2021

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Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions

Genome medicine, 2023-10, Vol.15 (1), p.86-86, Article 86

2023

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Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy‐Associated Genes

Journal of the American Heart Association, 2022-10, Vol.11 (19), p.e025257-e025257

2022

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Novel long QT syndrome-associated missense mutation, L762F, in CACNA1C -encoded L-type calcium channel imparts a slower inactivation tau and increased sustained and window current

International journal of cardiology, 2016-10, Vol.220, p.290-298

2016

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Reduced junctional Na+/Ca2+-exchanger activity contributes to sarcoplasmic reticulum Ca2+ leak in junctophilin-2-deficient mice

American journal of physiology. Heart and circulatory physiology, 2014-11, Vol.307 (9), p.H1317-H1326

2014

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Essential roles of the dystrophin-glycoprotein complex in different cardiac pathologies

Advances in medical sciences, 2021-03, Vol.66 (1), p.52-71

2021

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A Mutation in TNNC1-encoded Cardiac Troponin C, TNNC1-A31S, Predisposes to Hypertrophic Cardiomyopathy and Ventricular Fibrillation

The Journal of biological chemistry, 2012-09, Vol.287 (38), p.31845-31855

2012

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PLN -encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: Summary of the literature and implications for genetic testing

The American heart journal, 2011, Vol.161 (1), p.165-171

2011

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Predicting the Development of Dilated Cardiomyopathy in Kindred With Genetic Risk: Family Matters

Journal of the American College of Cardiology, 2024-04, Vol.83 (17), p.1652-1655

2024

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Junctophilin-2 expression silencing causes cardiocyte hypertrophy and abnormal intracellular calcium-handling

Circulation. Heart failure, 2011-03, Vol.4 (2), p.214-223

2011

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Variant R94C in TNNT2 -Encoded Troponin T Predisposes to Pediatric Restrictive Cardiomyopathy and Sudden Death Through Impaired Thin Filament Relaxation Resulting in Myocardial Diastolic Dysfunction

Journal of the American Heart Association, 2020-03, Vol.9 (5), p.e015111-e015111

2020

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Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1 -encoded troponin C

Journal of molecular and cellular cardiology, 2008-08, Vol.45 (2), p.281-288

2008

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Calcium Signaling and Cardiac Arrhythmias

Genetic Testing for Inherited Cardiovascular Diseases: A Scientific Statement From the American Heart Association

Mutation E169K in Junctophilin-2 Causes Atrial Fibrillation Due to Impaired RyR2 Stabilization

Genetic Etiology of Left-Sided Obstructive Heart Lesions: A Story in Development

Frequency, Penetrance, and Variable Expressivity of Dilated Cardiomyopathy-Associated Putative Pathogenic Gene Variants in UK Biobank Participants

Engineered bacterial voltage-gated sodium channel platform for cardiac gene therapy

Emerging roles of junctophilin-2 in the heart and implications for cardiac diseases

Author Correction: Engineered bacterial voltage-gated sodium channel platform for cardiac gene therapy

Disrupted Junctional Membrane Complexes and Hyperactive Ryanodine Receptors After Acute Junctophilin Knockdown in Mice

The junctophilin family of proteins: from bench to bedside

Distinguishing Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia–Associated Mutations From Background Genetic Noise

BRG1 is a biomarker of hypertrophic cardiomyopathy in human heart specimens

GENESIS: Gene-Specific Machine Learning Models for Variants of Uncertain Significance Found in Catecholaminergic Polymorphic Ventricular Tachycardia and Long QT Syndrome-Associated Genes

Genetic Testing for Heritable Cardiovascular Diseases in Pediatric Patients: A Scientific Statement From the American Heart Association

Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions

Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy‐Associated Genes

Novel long QT syndrome-associated missense mutation, L762F, in CACNA1C -encoded L-type calcium channel imparts a slower inactivation tau and increased sustained and window current

Reduced junctional Na+/Ca2+-exchanger activity contributes to sarcoplasmic reticulum Ca2+ leak in junctophilin-2-deficient mice

Essential roles of the dystrophin-glycoprotein complex in different cardiac pathologies

A Mutation in TNNC1-encoded Cardiac Troponin C, TNNC1-A31S, Predisposes to Hypertrophic Cardiomyopathy and Ventricular Fibrillation

PLN -encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: Summary of the literature and implications for genetic testing

Predicting the Development of Dilated Cardiomyopathy in Kindred With Genetic Risk: Family Matters

Junctophilin-2 expression silencing causes cardiocyte hypertrophy and abnormal intracellular calcium-handling

Variant R94C in TNNT2 -Encoded Troponin T Predisposes to Pediatric Restrictive Cardiomyopathy and Sudden Death Through Impaired Thin Filament Relaxation Resulting in Myocardial Diastolic Dysfunction

Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1 -encoded troponin C

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