Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.M4109R
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RYR2

NM_001035.3:p.M4109R

Associated Papers

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 RyR2 Mutations in Congenital Heart Diseases: Insights Into Cardiac Electrophysiological Mechanisms.

Lv T et al.

Journal of Cardiovascular Electrophysiology, 2025

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

Begovic M et al.

International Journal of Molecular Sciences, 2024

A Clinical Diagnostic Test for Calcium Release Deficiency Syndrome.

Ni M et al.

Jama, 2024

RYR2 receptor gene mutation associated with catecholaminergic polymorphic ventricular tachycardia in children: a case report & literature review.

Abdullah NM et al.

Translational Pediatrics, 2024

Human induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs) for modeling cardiac arrhythmias: strengths, challenges and potential solutions.

Joshi J et al.

Frontiers in Physiology, 2024

39328831 (PubMed )
Supplement: Table1.pdf

Molecular, Subcellular, and Arrhythmogenic Mechanisms in Genetic RyR2 Disease.

Fowler ED et al.

Biomolecules, 2022

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

Sleiman Y et al.

Cell Death & Disease, 2021

Human RyR2 (Ryanodine Receptor 2) Loss-of-Function Mutations: Clinical Phenotypes and In Vitro Characterization.

Li Y et al.

Circulation. Arrhythmia and Electrophysiology, 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

Patient-specific induced pluripotent stem cells as "disease-in-a-dish" models for inherited cardiomyopathies and channelopathies - 15 years of research.

Micheu MM et al.

World Journal of Stem Cells, 2021

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

Antiarrhythmic Effects of Carvedilol and Flecainide in Cardiomyocytes Derived from Catecholaminergic Polymorphic Ventricular Tachycardia Patients.

Pölönen RP et al.

Stem Cells International, 2018

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

Giacomelli E et al.

Cellular and Molecular Life Sciences : Cmls, 2017

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

SK4 K+ channels are therapeutic targets for the treatment of cardiac arrhythmias.

Haron-Khun S et al.

Embo Molecular Medicine, 2017

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

Zhang XH et al.

Cell Calcium, 2016

Functional abnormalities in iPSC-derived cardiomyocytes generated from CPVT1 and CPVT2 patients carrying ryanodine or calsequestrin mutations.

Novak A et al.

Journal of Cellular and Molecular Medicine, 2015

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

Sallam K et al.

Circulation Research, 2015

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

S4153R is a gain-of-function mutation in the cardiac Ca(2+) release channel ryanodine receptor associated with catecholaminergic polymorphic ventricular tachycardia and paroxysmal atrial fibrillation.

Zhabyeyev P et al.

The Canadian Journal of Cardiology, 2013

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

Abnormal Ca(2+) homeostasis, atrial arrhythmogenesis, and sinus node dysfunction in murine hearts modeling RyR2 modification.

Zhang Y et al.

Frontiers in Physiology, 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 of catecholaminergic polymorphic ventricular tachycardia with patient-specific human-induced pluripotent stem cells.

Itzhaki I et al.

Journal of the American College of Cardiology, 2012

Postpacing abnormal repolarization in catecholaminergic polymorphic ventricular tachycardia associated with a mutation in the cardiac ryanodine receptor gene.

Nof E et al.

Heart Rhythm, 2011

From ECG to mutation: programmed ventricular stimulation providing a link to genetics of cardiac channelopathies.

Schimpf R et al.

Heart Rhythm, 2011

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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."