Varaico: Literature-Extracted Genetic Variants

Gene:CASQ2
Variant:p.D307H
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CASQ2

NM_001232.4:p.D307H

Associated Papers

The emerging role of calsequestrin 2: from calcium sensor and modulator to arrhythmia driver.

Rajha HE et al.

Journal of Physiology and Biochemistry, 2026

Gene Therapy for Inherited Cardiac Arrhythmias.

Turkieltaub Paredes MR et al.

Journal of Cardiovascular Translational Research, 2025

Next generation sequencing: a possible answer to sudden unexplained deaths in a young South African cohort?

van Deventer BS et al.

Forensic Science, Medicine, and Pathology, 2025

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

Catecholaminergic polymorphic ventricular tachycardia (and seizure) caused by a novel homozygous likely pathogenic variant in CASQ2 gene.

Askarinejad A et al.

Gene, 2024

Transcriptome analysis of effects of Tecrl deficiency on cardiometabolic and calcium regulation in cardiac tissue.

Lin S et al.

Open Medicine (warsaw, Poland), 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

The Structural-Functional Crosstalk of the Calsequestrin System: Insights and Pathological Implications.

Marabelli C et al.

Biomolecules, 2023

New drug discovery of cardiac anti-arrhythmic drugs: insights in animal models.

Sharma AK et al.

Scientific Reports, 2023

The role of genetic testing in the prevention, diagnosis, and prognosis of sudden cardiac arrest in children.

Blich M et al.

Journal of Arrhythmia, 2023

Gene Therapy for Catecholaminergic Polymorphic Ventricular Tachycardia.

Pérez PR et al.

Heart, Lung & Circulation, 2023

Unlocking the potential of induced pluripotent stem cells for neonatal disease modeling and drug development.

Liu Z et al.

Seminars in Perinatology, 2023

Advances in Ion Channel, Non-Desmosomal Variants and Autophagic Mechanisms Implicated in Arrhythmogenic Cardiomyopathy.

Li K et al.

Current Issues in Molecular Biology, 2023

Clinical Characteristics, Genetic Findings and Arrhythmic Outcomes of Patients with Catecholaminergic Polymorphic Ventricular Tachycardia from China: A Systematic Review.

Leung J et al.

Life (basel, Switzerland), 2022

Animal Models to Study Cardiac Arrhythmias.

Blackwell DJ et al.

Circulation Research, 2022

TECRL deficiency results in aberrant mitochondrial function in cardiomyocytes.

Hou C et al.

Communications Biology, 2022

The function and regulation of calsequestrin-2: implications in calcium-mediated arrhythmias.

Sibbles ET et al.

Biophysical Reviews, 2022

An Optogenetic Arrhythmia Model-Insertion of Several Catecholaminergic Polymorphic Ventricular Tachycardia Mutations Into Caenorhabditis elegans UNC-68 Disturbs Calstabin-Mediated Stabilization of the Ryanodine Receptor Homolog.

Engel MA et al.

Frontiers in Physiology, 2022

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

Advances in the Molecular Genetics of Catecholaminergic Polymorphic Ventricular Tachycardia.

Song J et al.

Frontiers in Pharmacology, 2021

The structure of a calsequestrin filament reveals mechanisms of familial arrhythmia.

Titus EW et al.

Nature Structural & Molecular Biology, 2020

Phylogenetic and biochemical analysis of calsequestrin structure and association of its variants with cardiac disorders.

Wang Q et al.

Scientific Reports, 2020

Drug Development and the Use of Induced Pluripotent Stem Cell-Derived Cardiomyocytes for Disease Modeling and Drug Toxicity Screening.

Ovics P et al.

International Journal of Molecular Sciences, 2020

Protein expression profiles in murine ventricles modeling catecholaminergic polymorphic ventricular tachycardia: effects of genotype and sex.

Saadeh K et al.

Annals of the New York Academy of Sciences, 2020

An International Multicenter Evaluation of Inheritance Patterns, Arrhythmic Risks, and Underlying Mechanisms of CASQ2-Catecholaminergic Polymorphic Ventricular Tachycardia.

Ng K et al.

Circulation, 2020

Molecular adaptation to calsequestrin 2 (CASQ2) point mutations leading to catecholaminergic polymorphic ventricular tachycardia (CPVT): comparative analysis of R33Q and D307H mutants.

Valle G et al.

Journal of Muscle Research and Cell Motility, 2020

Gene therapy for inherited arrhythmias.

Bezzerides VJ et al.

Cardiovascular Research, 2020

Ventricular arrhythmia suppression with ivabradine in a patient with catecholaminergic polymorphic ventricular tachycardia refractory to nadolol, flecainide, and sympathectomy.

Kohli U et al.

Pacing and Clinical Electrophysiology : Pace, 2020

Epidemiology of inherited arrhythmias.

Offerhaus JA et al.

Nature Reviews. Cardiology, 2020

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

The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?

Zlotogora J

Israel Journal of Health Policy Research, 2019

31839005 (PubMed )
Supplement: 13584_2019_345_MOESM1_ESM.xlsx › Arabs_not_Negev_Bedouins_

CASQ2 variants in Chinese children with catecholaminergic polymorphic ventricular tachycardia.

Li Q et al.

Molecular Genetics & Genomic Medicine, 2019

A Homozygous CASQ2 Mutation in a Japanese Patient with Catecholaminergic Polymorphic Ventricular Tachycardia.

Fujisawa T et al.

Case Reports in Genetics, 2019

The Hyperpolarization-Activated Cyclic-Nucleotide-Gated Channel Blocker Ivabradine Does Not Prevent Arrhythmias in Catecholaminergic Polymorphic Ventricular Tachycardia.

Bueno-Levy H et al.

Frontiers in Pharmacology, 2019

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

Garg P et al.

Circulation Research, 2018

An optogenetic arrhythmia model to study catecholaminergic polymorphic ventricular tachycardia mutations.

Fischer E et al.

Scientific Reports, 2017

Viral delivered gene therapy to treat catecholaminergic polymorphic ventricular tachycardia (CPVT2) in mouse models.

Kurtzwald-Josefson E et al.

Heart Rhythm, 2017

Patient-Specific Drug Screening Using a Human Induced Pluripotent Stem Cell Model of Catecholaminergic Polymorphic Ventricular Tachycardia Type 2.

Maizels L et al.

Circulation. Arrhythmia and Electrophysiology, 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

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

Genetic variations involved in sudden cardiac death and their associations and interactions.

Wei D et al.

Heart Failure Reviews, 2016

The Role of Flecainide in the Management of Catecholaminergic Polymorphic Ventricular Tachycardia.

Lieve KV et al.

Arrhythmia & Electrophysiology Review, 2016

Polymorphism identification and cardiac gene expression analysis of the calsequestrin 2 gene in broiler chickens with sudden death syndrome.

Basaki M et al.

British Poultry Science, 2016

Monitoring Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes with Genetically Encoded Calcium and Voltage Fluorescent Reporters.

Shinnawi R et al.

Stem Cell Reports, 2015

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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."