Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.F2483I
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RYR2

NM_001035.3:p.F2483I

Associated Papers

Human-derived cardiac-neural microtissues reveal catecholaminergic polymorphic ventricular tachycardia is also a disease of the sympathetic neuron.

Li N et al.

The Journal of Physiology, 2026

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

Luo S et al.

Asian Heart Journal, 2025

Structural basis for ryanodine receptor type 2 leak in heart failure and arrhythmogenic disorders.

Miotto MC et al.

Nature Communications, 2024

Point mutations in RyR2 Ca2+-binding residues of human cardiomyocytes cause cellular remodelling of cardiac excitation contraction-coupling.

Xia Y et al.

Cardiovascular Research, 2024

RYR2 deficient human model identifies calcium handling and metabolic dysfunction impacting pharmacological responses.

Starnes L et al.

Frontiers in Cardiovascular Medicine, 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

Arrhythmogenic mechanism of a novel ryanodine receptor mutation underlying sudden cardiac death.

Qian Y et al.

Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2023

Uptake-leak balance of SR Ca2+ determines arrhythmogenic potential of RyR2R420Q+/- cardiomyocytes.

Lopez R et al.

Journal of Molecular and Cellular Cardiology, 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

"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

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

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

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 Genetic Cardiomyopathies.

Brodehl A et al.

International Journal of Molecular Sciences, 2019

Ryanodine receptor dysfunction in human disorders.

Kushnir A et al.

Biochimica Et Biophysica Acta. Molecular Cell Research, 2018

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

Garg P et al.

Circulation Research, 2018

CRISPR/Cas9 Gene editing of RyR2 in human stem cell-derived cardiomyocytes provides a novel approach in investigating dysfunctional Ca2+ signaling.

Wei H et al.

Cell Calcium, 2018

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

Giacomelli E et al.

Cellular and Molecular Life Sciences : Cmls, 2017

Adeno-associated virus-mediated CASQ2 delivery rescues phenotypic alterations in a patient-specific model of recessive catecholaminergic polymorphic ventricular tachycardia.

Lodola F et al.

Cell Death & Disease, 2016

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

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

Human pluripotent stem cell-derived cardiomyocytes as research and therapeutic tools.

Acimovic I et al.

Biomed Research International, 2014

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

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

In vitro modeling of ryanodine receptor 2 dysfunction using human induced pluripotent stem cells.

Fatima A et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 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."