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Extensive Diversity of Molecular Mechanisms Underlying the Congenital Long QT Syndrome Type 1

Canadian journal of cardiology, 2018-09, Vol.34 (9), p.1108-1109

Horie, Minoru

2018

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Genetic and Clinical Advances in Congenital Long QT Syndrome

Circulation Journal, 2014/11/25, Vol.78(12), pp.2827-2833

2014

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Phenotypic Manifestations of Mutations in Genes Encoding Subunits of Cardiac Potassium Channels

Circulation research, 2011-06, Vol.109 (1), p.97-109

2011

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Correction: Gender Differences in the Inheritance Mode of RYR2 Mutations in Catecholaminergic Polymorphic Ventricular Tachycardia Patients

PloS one, 2021-02, Vol.16 (2), p.e0243476-e0243476

2021

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J-Wave syndromes expert consensus conference report: Emerging concepts and gaps in knowledge

Europace (London, England), 2017-04, Vol.19 (4), p.665-694

2017

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J-Wave syndromes expert consensus conference report: Emerging concepts and gaps in knowledge

Heart rhythm, 2016-10, Vol.13 (10), p.e295-e324

2016

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An NGS-based genotyping in LQTS; minor genes are no longer minor

Journal of human genetics, 2020-12, Vol.65 (12), p.1083-1091

2020

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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

Circulation Journal, 2020/01/24, Vol.84(2), pp.226-234

2020

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Molecular pathogenesis of long QT syndrome type 1

Journal of arrhythmia, 2016-10, Vol.32 (5), p.381-388

2016

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Ultrastructural Maturation of Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes in a Long-Term Culture

Circulation Journal, 2013, Vol.77(5), pp.1307-1314

2013

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Genetics of Brugada syndrome

Journal of arrhythmia, 2016-10, Vol.32 (5), p.418-425

2016

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Molecular genetics have opened a new era for arrhythmia research, but also Pandora's box?

Journal of arrhythmia, 2016-10, Vol.32 (5), p.313-314

Horie, Minoru

2016

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Dynamic QT Changes in Long QT Syndrome Type 8

Circulation Journal, 2019/06/25, Vol.83(7), pp.1614

2019

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Cytosolic Ca2+-dependent Ca2+ release activity primarily determines the ER Ca2+ level in cells expressing the CPVT-linked mutant RYR2

The Journal of general physiology, 2022-09, Vol.154 (9), p.1

2022

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Response to Letter to the Editor: "How to Screen and Manage Suspected Laminopathy"

Internal Medicine, 2024, pp.3959-24

2024

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Novel CACNA1C R511Q mutation, located in domain Ⅰ-Ⅱ linker, causes non-syndromic type-8 long QT syndrome

PloS one, 2022-07, Vol.17 (7), p.e0271796-e0271796

2022

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A tryptophan residue in the caffeine-binding site of the ryanodine receptor regulates Ca2+ sensitivity

Communications biology, 2018-07, Vol.1 (1), p.98-98, Article 98

2018

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Development of a Patient-Derived Induced Pluripotent Stem Cell Model for the Investigation of SCN5A-D1275N-Related Cardiac Sodium Channelopathy

Circulation Journal, 2017/11/24, Vol.81(12), pp.1783-1791

2017

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Impact of cascade screening for catecholaminergic polymorphic ventricular tachycardia type 1

Heart (British Cardiac Society), 2022-06, Vol.108 (11), p.840-847

2022

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

Europace (London, England), 2022-03, Vol.24 (3), p.497-510

2022

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Oral Adrenergic Agents Produced Ventricular Fibrillation and QT Prolongation in an Elderly Patient Carrying an RYR2 Variant

International Heart Journal, 2022/03/30, Vol.63(2), pp.398-403

2022

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Increased CaV1.2 late current by a CACNA1C p.R412M variant causes an atypical Timothy syndrome without syndactyly

Scientific reports, 2022-11, Vol.12 (1), p.18984-18984, Article 18984

2022

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Extensive Diversity of Molecular Mechanisms Underlying the Congenital Long QT Syndrome Type 1

Genetic and Clinical Advances in Congenital Long QT Syndrome

Phenotypic Manifestations of Mutations in Genes Encoding Subunits of Cardiac Potassium Channels

Correction: Gender Differences in the Inheritance Mode of RYR2 Mutations in Catecholaminergic Polymorphic Ventricular Tachycardia Patients

HRS/EHRA/APHRS Expert Consensus Statement on the Diagnosis and Management of Patients with Inherited Primary Arrhythmia Syndromes

J-Wave syndromes expert consensus conference report: Emerging concepts and gaps in knowledge

J-Wave syndromes expert consensus conference report: Emerging concepts and gaps in knowledge

An NGS-based genotyping in LQTS; minor genes are no longer minor

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

Molecular pathogenesis of long QT syndrome type 1

Ultrastructural Maturation of Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes in a Long-Term Culture

Genetics of Brugada syndrome

Molecular genetics have opened a new era for arrhythmia research, but also Pandora's box?

Functionally validated SCN5A variants allow interpretation of pathogenicity and prediction of lethal events in Brugada syndrome

Dynamic QT Changes in Long QT Syndrome Type 8

Cytosolic Ca2+-dependent Ca2+ release activity primarily determines the ER Ca2+ level in cells expressing the CPVT-linked mutant RYR2

Response to Letter to the Editor: "How to Screen and Manage Suspected Laminopathy"

Novel CACNA1C R511Q mutation, located in domain Ⅰ-Ⅱ linker, causes non-syndromic type-8 long QT syndrome

A tryptophan residue in the caffeine-binding site of the ryanodine receptor regulates Ca2+ sensitivity

Development of a Patient-Derived Induced Pluripotent Stem Cell Model for the Investigation of SCN5A-D1275N-Related Cardiac Sodium Channelopathy

Impact of cascade screening for catecholaminergic polymorphic ventricular tachycardia type 1

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

Patient-Specific Human Induced Pluripotent Stem Cell Model Assessed with Electrical Pacing Validates S107 as a Potential Therapeutic Agent for Catecholaminergic Polymorphic Ventricular Tachycardia

Oral Adrenergic Agents Produced Ventricular Fibrillation and QT Prolongation in an Elderly Patient Carrying an RYR2 Variant

Increased CaV1.2 late current by a CACNA1C p.R412M variant causes an atypical Timothy syndrome without syndactyly

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