Loss-of-function mutations in cardiac ryanodine receptor channel cause various types of arrhythmias including long QT syndrome

RYR2 Channel Inhibition Is the Principal Mechanism 0f Flecainide Action in CPVT

(2020) Dmytro O Kryshtal et al.   CIRCULATION RESEARCH

Co-Phenotype of Left Ventricular Non-Compaction Cardiomyopathy and Atypical Catecholaminergic Polymorphic Ventricular Tachycardia in Association With R169Q, a Ryanodine Receptor Type 2 Missense Mutation

(2019) Yoshihiro Nozaki et al.   CIRCULATION JOURNAL

A type 2 ryanodine receptor variant associated with reduced Ca2+ release and short-coupled torsades de pointes ventricular arrhythmia

(2017) Yusuke Fujii et al.   HEART RHYTHM

A novel RYR2 loss-of-function mutation (I4855M) is associated with left ventricular non-compaction and atypical catecholaminergic polymorphic ventricular tachycardia

(2017) Thomas M. Roston et al.   JOURNAL OF ELECTROCARDIOLOGY

Extensive Ca2+leak through K4750Q cardiac ryanodine receptors caused by cytosolic and luminal Ca2+hypersensitivity

(2017) Akira Uehara et al.   JOURNAL OF GENERAL PHYSIOLOGY

Evaluation and management of bradycardia in neonates and children

(2016) Alban-Elouen Baruteau et al.   EUROPEAN JOURNAL OF PEDIATRICS

Prominent QTc prolongation in a patient with a rare variant in the cardiac ryanodine receptor gene

(2016) Yuki Taniguchi et al.   HEART AND VESSELS

Catecholaminergic Polymorphic Ventricular Tachycardia in Children

(2015) Thomas M. Roston et al.   Circulation-Arrhythmia and Electrophysiology

Exome Analyses of Long QT Syndrome Reveal Candidate Pathogenic Mutations in Calmodulin-Interacting Genes

(2015) Daichi Shigemizu et al.   PLoS One

Arrhythmogenesis in a catecholaminergic polymorphic ventricular tachycardia mutation that depresses ryanodine receptor function

(2015) Yan-Ting Zhao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Divergent Activity Profiles of Type 1 Ryanodine Receptor Channels Carrying Malignant Hyperthermia and Central Core Disease Mutations in the Amino-Terminal Region

(2015) Takashi Murayama et al.   PLoS One

Imaging intraorganellar Ca2+ at subcellular resolution using CEPIA

(2014) Junji Suzuki et al.   Nature Communications

Mechanisms of Beat-to-Beat Regulation of Cardiac Pacemaker Cell Function by Ca2+ Cycling Dynamics

(2013) Yael Yaniv et al.   BIOPHYSICAL JOURNAL

Calcium Cycling and Signaling in Cardiac Myocytes

(2007) Donald M. Bers   Annual Review of Physiology