Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.S406L
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RYR2

NM_001035.3:p.S406L

Associated Papers

RYR2 Variants in Catecholaminergic Polymorphic Ventricular Tachycardia Patients: Insights From Protein Structure and Clinical Data.

Chang A et al.

Circulation. Arrhythmia and Electrophysiology, 2025

40875405 (PubMed )
Supplement: hae-18-e013757-s003.xlsx › patient_variants

Catecholaminergic polymorphic ventricular tachycardia: A narrative review of recent advances in genetics, mechanisms, diagnosis, and treatment.

Luo S et al.

Asian Heart Journal, 2025

Catecholaminergic Polymorphic Ventricular Tachycardia: Advancing From Molecular Insights to Preclinical Models.

Schneider L et al.

Journal of the American Heart Association, 2025

The Role of Human-Induced Pluripotent Stem Cells in Studying Cardiac Channelopathies.

Begovic M et al.

International Journal of Molecular Sciences, 2024

"Ryanopathies" and RyR2 dysfunctions: can we further decipher them using in vitro human disease models?

Sleiman Y et al.

Cell Death & Disease, 2021

Human-induced pluripotent stem cells as models for rare cardiovascular diseases: from evidence-based medicine to precision medicine.

Pan Z et al.

Pflugers Archiv : European Journal of Physiology, 2021

Calcium signaling consequences of RyR2 mutations associated with CPVT1 introduced via CRISPR/Cas9 gene editing in human-induced pluripotent stem cell-derived cardiomyocytes: Comparison of RyR2-R420Q, F2483I, and Q4201R.

Zhang XH et al.

Heart Rhythm, 2021

An NGS-based genotyping in LQTS; minor genes are no longer minor.

Ohno S et al.

Journal of Human Genetics, 2020

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

Applications for Induced Pluripotent Stem Cells in Disease Modelling and Drug Development for Heart Diseases.

Nakao S et al.

European Cardiology, 2020

The Emergence of Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes (hiPSC-CMs) as a Platform to Model Arrhythmogenic Diseases.

Pourrier M et al.

International Journal of Molecular Sciences, 2020

Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes as Models for Cardiac Channelopathies: A Primer for Non-Electrophysiologists.

Garg P et al.

Circulation Research, 2018

Suppression of Arrhythmia by Enhancing Mitochondrial Ca2+ Uptake in Catecholaminergic Ventricular Tachycardia Models.

Schweitzer MK et al.

Jacc. Basic to Translational Science, 2017

Human heart disease: lessons from human pluripotent stem cell-derived cardiomyocytes.

Giacomelli E et al.

Cellular and Molecular Life Sciences : Cmls, 2017

Findings of a 1303 Korean whole-exome sequencing study.

Kwak SH et al.

Experimental & Molecular Medicine, 2017

28706299 (PubMed )
Supplement: emm2017142x4.xls › Table_S1

Human iPSC-Derived Cardiomyocytes for Investigation of Disease Mechanisms and Therapeutic Strategies in Inherited Arrhythmia Syndromes: Strengths and Limitations.

Casini S et al.

Cardiovascular Drugs and Therapy, 2017

Integration of 60,000 exomes and ACMG guidelines question the role of Catecholaminergic Polymorphic Ventricular Tachycardia-associated variants.

Paludan-Müller C et al.

Clinical Genetics, 2017

Modeling Inherited Arrhythmia Disorders Using Induced Pluripotent Stem Cell-Derived Cardiomyocytes.

Bezzerides VJ et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2016

Calcium signaling in human stem cell-derived cardiomyocytes: Evidence from normal subjects and CPVT afflicted patients.

Zhang XH et al.

Cell Calcium, 2016

Frequency and spectrum of actionable pathogenic secondary findings in 196 Korean exomes.

Jang MA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015

Flecainide exerts paradoxical effects on sodium currents and atrial arrhythmia in murine RyR2-P2328S hearts.

Salvage SC et al.

Acta Physiologica (oxford, England), 2015

Finding the rhythm of sudden cardiac death: new opportunities using induced pluripotent stem cell-derived cardiomyocytes.

Sallam K et al.

Circulation Research, 2015

Antiarrhythmic Effects of Dantrolene in Patients with Catecholaminergic Polymorphic Ventricular Tachycardia and Replication of the Responses Using iPSC Models.

Penttinen K et al.

Plos One, 2015

Clinical Potentials of Cardiomyocytes Derived from Patient-Specific Induced Pluripotent Stem Cells.

Ng KM et al.

Journal of Clinical Medicine, 2014

iPCS Cell Modeling of Inherited Cardiac Arrhythmias.

Shinnawi R et al.

Current Treatment Options in Cardiovascular Medicine, 2014

Modeling inherited cardiac disorders.

Sallam K et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2014

Calcium signalling of human pluripotent stem cell-derived cardiomyocytes.

Li S et al.

The Journal of Physiology, 2013

New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia.

Jabbari J et al.

Circulation. Cardiovascular Genetics, 2013

24025405 (PubMed )
Supplement: 000118_supplemental_material.pdf

Ca2+ signaling in human induced pluripotent stem cell-derived cardiomyocytes (iPS-CM) from normal and catecholaminergic polymorphic ventricular tachycardia (CPVT)-afflicted subjects.

Zhang XH et al.

Cell Calcium, 2013

Genetics and sudden death.

Lombardi R

Current Opinion in Cardiology, 2013

Induced pluripotent stem cell-derived cardiomyocytes in studies of inherited arrhythmias.

Priori SG et al.

The Journal of Clinical Investigation, 2013

Gene mutations in cardiac arrhythmias: a review of recent evidence in ion channelopathies.

Hsiao PY et al.

The Application of Clinical Genetics, 2013

Modeling Catecholaminergic Polymorphic Ventricular Tachycardia using Induced Pluripotent Stem Cell-derived Cardiomyocytes.

Novak A et al.

Rambam Maimonides Medical Journal, 2012

Dantrolene rescues arrhythmogenic RYR2 defect in a patient-specific stem cell model of catecholaminergic polymorphic ventricular tachycardia.

Jung CB et al.

Embo Molecular Medicine, 2012

Induced pluripotent stem cell derived cardiomyocytes as models for cardiac arrhythmias.

Hoekstra M et al.

Frontiers in Physiology, 2012

Patient Specific Induced Pluripotent Stem Cell-Derived Cardiomyocytes for Drug Development and Screening In Catecholaminergic Polymorphic Ventricular Tachycardia.

Ben Jehuda R et al.

Journal of Atrial Fibrillation, 0

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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."