Search Results - "Horie, Minoru"
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1
Extensive Diversity of Molecular Mechanisms Underlying the Congenital Long QT Syndrome Type 1
Published in Canadian journal of cardiology (01-09-2018)Get full text
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Genetic and Clinical Advances in Congenital Long QT Syndrome
Published in Circulation Journal (2014)“…Congenital long QT syndrome (LQTS) is an inherited arrhythmia syndrome characterized by a prolonged QT interval on the 12-lead ECG, torsades de pointes and a…”
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3
Phenotypic Manifestations of Mutations in Genes Encoding Subunits of Cardiac Potassium Channels
Published in Circulation research (24-06-2011)“…Since 1995, when a potassium channel gene, hERG (human ether-à-go-go-related gene), now referred to as KCNH2, encoding the rapid component of cardiac delayed…”
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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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HRS/EHRA/APHRS Expert Consensus Statement on the Diagnosis and Management of Patients with Inherited Primary Arrhythmia Syndromes
Published in Heart rhythm (01-12-2013)Get full text
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J-Wave syndromes expert consensus conference report: Emerging concepts and gaps in knowledge
Published in Heart rhythm (01-10-2016)Get full text
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7
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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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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10
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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11
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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12
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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13
Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy
Published in Nature communications (11-04-2016)“…Myotonic dystrophy (DM) is caused by the expression of mutant RNAs containing expanded CUG repeats that sequester muscleblind-like (MBNL) proteins, leading to…”
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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
Molecular genetics have opened a new era for arrhythmia research, but also Pandora's box?
Published in Journal of arrhythmia (01-10-2016)Get full text
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16
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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17
Molecular pathogenesis of long QT syndrome type 1
Published in Journal of arrhythmia (01-10-2016)“…Abstract Long QT syndrome type 1 (LQT1) is a subtype of a congenital cardiac syndrome caused by mutation in the KCNQ1 gene, which encodes the α- subunit of the…”
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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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Genetics of Brugada syndrome
Published in Journal of arrhythmia (01-10-2016)“…Abstract In 1992, the Brugada syndrome (BrS) was recognized as a disease responsible for sudden cardiac death, characterized by a right bundle-branch block…”
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Efficacy of Antiarrhythmic Drugs Short-Term Use After Catheter Ablation for Atrial Fibrillation (EAST-AF) trial
Published in European heart journal (14-02-2016)“…Substantial portion of early arrhythmia recurrence after catheter ablation for atrial fibrillation (AF) is considered to be due to irritability in left atrium…”
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