Search Results - "Ohno, Seiko"
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1
The genetic background of arrhythmogenic right ventricular cardiomyopathy
Published in Journal of arrhythmia (01-10-2016)“…Abstract Arrhythmogenic right ventricular cardiomyopathy (ARVC) is characterized by degeneration of the right ventricle and ventricular tachycardia originating…”
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2
How Should We Treat School-Aged Children With Borderline QT Prolongation?
Published in Circulation Journal (25-04-2017)Get full text
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European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases
Published in Europace (London, England) (01-09-2022)Get full text
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4
Transcriptional cofactor Vgll2 is required for functional adaptations of skeletal muscle induced by chronic overload
Published in Journal of cellular physiology (01-09-2019)“…Skeletal muscle is composed of heterogeneous populations of myofibers classified as slow‐ and fast‐twitch fibers. Myofiber size and composition are drastically…”
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Correction: Gender Differences in the Inheritance Mode of RYR2 Mutations in Catecholaminergic Polymorphic Ventricular Tachycardia Patients
Published in PloS one (19-02-2021)“…[This corrects the article DOI: 10.1371/journal.pone.0131517.]…”
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European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the State of Genetic Testing for Cardiac Diseases
Published in Heart rhythm (01-07-2022)Get full text
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7
Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry
Published in European heart journal (14-09-2019)“…Abstract Aims Calmodulinopathies are rare life-threatening arrhythmia syndromes which affect mostly young individuals and are, caused by mutations in any of…”
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8
Gender Differences in the Inheritance Mode of RYR2 Mutations in Catecholaminergic Polymorphic Ventricular Tachycardia Patients
Published in PloS one (26-06-2015)“…Catecholaminergic polymorphic ventricular tachycardia (CPVT) is one of the causes of sudden cardiac death in young people and results from RYR2 mutations in…”
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9
The genetics underlying acquired long QT syndrome: impact for genetic screening
Published in European heart journal (07-05-2016)“…Acquired long QT syndrome (aLQTS) exhibits QT prolongation and Torsades de Pointes ventricular tachycardia triggered by drugs, hypokalaemia, or bradycardia…”
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Differential Diagnosis Between Catecholaminergic Polymorphic Ventricular Tachycardia and Long QT Syndrome Type 1 ― Modified Schwartz Score
Published in Circulation Journal (24-08-2018)“…Background: Catecholaminergic polymorphic ventricular tachycardia (CPVT) has been often misdiagnosed as long QT syndrome (LQTS) type 1 (LQT1), which…”
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11
An NGS-based genotyping in LQTS; minor genes are no longer minor
Published in Journal of human genetics (01-12-2020)“…Mutations in KCNQ1, KCNH2, and SCN5A are the major cause of long QT syndrome (LQTS). More than 90% of the genotyped patients have been reported to carry…”
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12
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
Published in Circulation Journal (24-01-2020)“…Background:Left ventricular non-compaction (LVNC) is a cardiomyopathy characterized by prominent trabeculae and intertrabecular recesses. We present the cases…”
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13
Bradycardia Is a Specific Phenotype of Catecholaminergic Polymorphic Ventricular Tachycardia Induced by RYR2 Mutations
Published in Internal Medicine (01-07-2018)“…Objective Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a lethal inherited disease characterized by ventricular arrhythmias induced by…”
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14
Ultrastructural Maturation of Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes in a Long-Term Culture
Published in Circulation Journal (2013)“…Background: In the short- to mid-term, cardiomyocytes generated from human-induced pluripotent stem cells (hiPSC-CMs) have been reported to be less mature than…”
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15
Functionally validated SCN5A variants allow interpretation of pathogenicity and prediction of lethal events in Brugada syndrome
Published in European heart journal (31-07-2021)“…Abstract Aims The prognostic value of genetic variants for predicting lethal arrhythmic events (LAEs) in Brugada syndrome (BrS) remains controversial. We…”
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16
Holter Electrocardiographic Approach to Predicting Outcomes of Pediatric Patients With Long QT Syndrome
Published in Circulation Journal (25-06-2024)“…Background: This study was performed to clarify the clinical findings of pediatric patients diagnosed with long QT syndrome (LQTS) through electrocardiographic…”
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17
Cardiomyopathy with an LMNA Genetic Variant Affecting Three Consecutive Generations: A Case Series
Published in Internal Medicine (15-09-2024)“…We report the case of a family afflicted with cardiac laminopathy who showed atrial fibrillation (AF) and complete atrioventricular block across three…”
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Autonomic Function and QT Interval During Night-Time Sleep in Infant Long QT Syndrome
Published in Circulation Journal (25-07-2018)“…Background:Sudden infant death syndrome mainly occurs during night-time sleep. Approximately 10% of cases are thought to involve infants with long QT syndrome…”
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A de novo gain-of-function KCND3 mutation in early repolarization syndrome
Published in Heart rhythm (01-11-2019)“…Early repolarization syndrome (ERS) is characterized by J-point elevation on electrocardiograms and ventricular fibrillation (VF). Early repolarization arises…”
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Cytosolic Ca2+-dependent Ca2+ release activity primarily determines the ER Ca2+ level in cells expressing the CPVT-linked mutant RYR2
Published in The Journal of general physiology (05-09-2022)“…Type 2 ryanodine receptor (RYR2) is a cardiac Ca2+ release channel in the ER. Mutations in RYR2 are linked to catecholaminergic polymorphic ventricular…”
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