S. Ohno

发表

Flecainide ameliorates arrhythmogenicity through NCX flux in Andersen-Tawil syndrome-iPS cell-derived cardiomyocytes

W. Shimizu, M. Horie, K. Kamiya, 2017, Biochemistry and biophysics reports.

Novel roles of Drosophila FUS and Aub responsible for piRNA biogenesis in neuronal disorders

H. Yoshida, T. Tokuda, M. Yamaguchi, 2019, Brain Research.

The genetics underlying acquired long QT syndrome: impact for genetic screening.

P. Schwartz, W. Shimizu, M. Horie, 2016, European heart journal.

D85N, a KCNE1 polymorphism, is a disease-causing gene variant in long QT syndrome.

M. Horie, F. Toyoda, Takeshi Kimura, 2009, Journal of the American College of Cardiology.

Case reports of a c.475G>T, p.E159* lamin A/C mutation with a family history of conduction disorder, dilated cardiomyopathy and sudden cardiac death

Y. Takeishi, S. Ohno, T. Aiba, 2019, BMC Cardiovascular Disorders.

Gene-Based Risk Stratification for Cardiac Disorders in LMNA Mutation Carriers

W. Shimizu, K. Aonuma, M. Horie, 2017, Circulation. Cardiovascular genetics.

Long QT syndrome type 8: novel CACNA1C mutations causing QT prolongation and variant phenotypes.

M. Horie, F. Toyoda, S. Ohno, 2014, 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.

Alcohol Drinking and Brain Morphometry in Apparently Healthy Community-Dwelling Japanese Men.

K. Nozaki, T. Ohkubo, I. Tooyama, 2020, Alcohol.

Age‐ and Genotype‐Specific Triggers for Life‐Threatening Arrhythmia in the Genotyped Long QT Syndrome

W. Shimizu, M. Horie, S. Ohno, 2008, Journal of cardiovascular electrophysiology.

Arrhythmic Risk in Long-QT Syndrome Polymorphism Acting as a Protective Modifier Against KCNQ 1 Identification of a

P. Schwartz, D. Trégouët, W. Shimizu, 2013 .

KCNE5 (KCNE1L) Variants Are Novel Modulators of Brugada Syndrome and Idiopathic Ventricular Fibrillation

J. Hancox, M. Horie, Tetsuhisa Hattori, 2011, Circulation. Arrhythmia and electrophysiology.

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

M. Iino, F. Yamashita, M. Horie, 2022, The Journal of general physiology.

Three cases of catecholaminergic polymorphic ventricular tachycardia with prolonged QT intervals including two cases of compound mutations

M. Horie, S. Ohno, M. Yoshinaga, 2018, Journal of arrhythmia.

Electrocardiographic Diagnosis of Hypertrophic Cardiomyopathy in the Pre- and Post-Diagnostic Phases in Children and Adolescents.

M. Horie, H. Horigome, S. Kawai, 2021, Circulation journal : official journal of the Japanese Circulation Society.

Genetic variants of alcohol‐metabolizing enzymes in Brugada syndrome: Insights into syncope after drinking alcohol

M. Horie, S. Ohno, K. Miura, 2019, Journal of arrhythmia.

High risk for bradyarrhythmic complications in patients with Brugada syndrome caused by SCN5A gene mutations.

A. Kobori, M. Horie, T. Kita, 2005, Journal of the American College of Cardiology.

Multivariate analysis of TU wave complex on electrocardiogram in Andersen–Tawil syndrome with KCNJ2 mutations

M. Horie, H. Horigome, S. Ohno, 2019, Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc.

Quantitative analysis of PKP2 and neighbouring genes in a patient with arrhythmogenic right ventricular cardiomyopathy caused by heterozygous PKP2 deletion

M. Horie, S. Ohno, T. Minamino, 2016, 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.

Sick sinus syndrome with HCN4 mutations shows early onset and frequent association with atrial fibrillation and left ventricular noncompaction.

W. Shimizu, M. Horie, H. Horigome, 2017, Heart rhythm.

Refractory ventricular fibrillations after surgical repair of atrial septal defects in a patient with CACNA1C gene mutation - case report

H. Izutani, M. Horie, S. Ohno, 2017, Journal of Cardiothoracic Surgery.

Cardiac Arrest Associated with Both an Anomalous Left Coronary Artery and KCNE1 Polymorphism.

M. Horie, H. Kawai, E. Watanabe, 2019, International heart journal.

Drug-induced QT-interval prolongation and recurrent torsade de pointes in a child with heterotaxy syndrome and KCNE1 D85N polymorphism.

M. Horie, H. Horigome, S. Ohno, 2012, Journal of electrocardiology.

Heart rate-dependent variability of cardiac events in type 2 congenital long-QT syndrome.

W. Shimizu, M. Horie, S. Ohno, 2010, 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.

N- and C-terminal KCNE1 mutations cause distinct phenotypes of long QT syndrome.

J. Hancox, M. Horie, T. Kita, 2007, Heart rhythm.

Clinical Manifestations and Long-Term Mortality in Lamin A/C Mutation Carriers From a Japanese Multicenter Registry.

W. Shimizu, K. Aonuma, M. Horie, 2018, Circulation journal : official journal of the Japanese Circulation Society.

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Associated With Ryanodine Receptor (RyR2) Gene Mutations　- Long-Term Prognosis After Initiation of Medical Treatment.

W. Shimizu, M. Horie, S. Ohno, 2016, Circulation journal : official journal of the Japanese Circulation Society.

Flecainide reduces ventricular arrhythmias via a mechanism that differs from that of β‐blockers in catecholaminergic polymorphic ventricular tachycardia

W. Shimizu, M. Horie, S. Ohno, 2013 .

A KCNQ1 mutation contributes to the concealed type 1 long QT phenotype by limiting the Kv7.1 channel conformational changes associated with protein kinase A phosphorylation.

Daniel C Bartos, D. Tester, M. Ackerman, 2014, Heart rhythm.

Dynamic QT Changes in Long QT Syndrome Type 8.

M. Horie, S. Ohno, A. Saitoh, 2019, Circulation journal : official journal of the Japanese Circulation Society.

A novel CACNA1C mutation identified in a patient with Timothy syndrome without syndactyly exerts both marked loss- and gain-of-function effects

M. Horie, S. Ohno, A. Saitoh, 2018, HeartRhythm case reports.

Channelopathies Long QT syndrome type 8 : novel CACNA 1 C mutations causing QT prolongation and variant phenotypes

M. Horie, F. Toyoda, S. Ohno, 2014 .

Novel SCN3B mutation associated with brugada syndrome affects intracellular trafficking and function of Nav1.5.

M. Horie, S. Ohno, N. Makita, 2013, Circulation journal : official journal of the Japanese Circulation Society.

Cardiac conduction defects and Brugada syndrome: A family with overlap syndrome carrying a nonsense SCN5A mutation☆

M. Horie, S. Ohno, T. Makiyama, 2016, Journal of arrhythmia.

Relationships of Alcohol Consumption with Coronary Risk Factors and Macro- and Micro-Nutrient Intake in Japanese People: The INTERLIPID Study.

P. Elliott, J. Stamler, Q. Chan, 2021, Journal of nutritional science and vitaminology.

Heart failure in patients with arrhythmogenic right ventricular cardiomyopathy: What are the risk factors?

W. Shimizu, M. Horie, H. Shimokawa, 2017, International journal of cardiology.

Continuous Bayesian Variant Interpretation Accounts for Incomplete Penetrance among Mendelian Cardiac Channelopathies

D. Roden, P. Schwartz, M. Horie, 2022, medRxiv.

Running title: Genome-wide association study in long QT syndrome

T. Werge, P. Ellinor, S. Priori, 2020 .

Population pharmacokinetics and pharmacogenomics of apixaban in Japanese adult patients with atrial fibrillation

M. Horie, S. Ohno, T. Ozawa, 2018, British journal of clinical pharmacology.

Early diagnosis of infantile Danon disease complicated by tetralogy of Fallot

S. Ohno, Y. Kawano, K. Ueno, 2021, Pediatrics international : official journal of the Japan Pediatric Society.

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

M. Horie, S. Ohno, H. Ogawa, 2018, Communications Biology.

Transcriptional cofactor Vgll2 is required for functional adaptations of skeletal muscle induced by chronic overload

Keisuke Hitachi, S. Ohno, H. Tsuchimochi, 2019, Journal of cellular physiology.

Long QT syndrome with a de novo CALM2 mutation in a 4‐year‐old boy

M. Horie, S. Ohno, T. Futatani, 2019, Pediatrics international : official journal of the Japan Pediatric Society.

Cardiac Channelopathies Associated with Infantile Fatal Ventricular Arrhythmias: From the Cradle to the Bench

M. Horie, S. Ohno, T. Nakanishi, 2014, Journal of cardiovascular electrophysiology.

Improvement in Decline Rate of Estimated Glomerular Filtration Rate after Febuxostat Treatment in a Fabry Disease Patient with Enzyme Replacement Therapy-resistant Proteinuria

S. Ohno, H. Maegawa, S. Kume, 2022, Internal medicine.

Cardiac sodium channel mutation associated with epinephrine-induced QT prolongation and sinus node dysfunction.

M. Horie, Takeshi Kimura, K. Sasaki, 2016, Heart rhythm.

Age-dependent clinical and genetic characteristics in Japanese patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia.

M. Horie, S. Ohno, H. Itoh, 2013, Circulation journal : official journal of the Japanese Circulation Society.

Carvedilol, a Non‐Selective β‐with α1‐Blocker is Effective in Long QT Syndrome Type 2

M. Horie, S. Ohno, Makoto Ito, 2011 .

Unique genetic background and outcome of non‐Caucasian Japanese probands with arrhythmogenic right ventricular dysplasia/cardiomyopathy

M. Horie, S. Ohno, T. Aiba, 2017, Molecular genetics & genomic medicine.

Impact of Medical Castration on Malignant Arrhythmias in Patients With Prostate Cancer

M. Horie, S. Ohno, H. Tada, 2021, Journal of the American Heart Association.

Differential Diagnosis Between Catecholaminergic Polymorphic Ventricular Tachycardia and Long QT Syndrome Type 1　- Modified Schwartz Score.

M. Horie, S. Ohno, A. Saitoh, 2018, Circulation journal : official journal of the Japanese Circulation Society.

Pharmacological correction of long QT-linked mutations in KCNH2 (hERG) increases the trafficking of Kv11.1 channels stored in the transitional endoplasmic reticulum.

Daniel C Bartos, C. January, A. Moss, 2013, American journal of physiology. Cell physiology.

Left‐dominant arrhythmogenic cardiomyopathy with a nonsense mutation in DSP

S. Oda, M. Horie, S. Ohno, 2020, ESC heart failure.

A Nonsynonymous Polymorphism in Semaphorin 3A as a Risk Factor for Human Unexplained Cardiac Arrest with Documented Ventricular Fibrillation

Takehito Tokuyama, Chikaaki Motoda, P. Postema, 2013, PLoS genetics.

Abstract 2574: A Novel Gain-of-function KCNJ2 Mutation Associated With Short QT Syndrome Impairs Inward Rectification of Kir 2.1 Currents

M. Horie, Takeshi Kimura, Tetsuhisa Hattori, 2009 .

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

R. Redon, E. Behr, D. Roden, 2013, Nature Genetics.

Cardiac Emerinopathy

W. Shimizu, M. Horie, Kimie Ohkubo, 2020, Circulation. Arrhythmia and electrophysiology.

Sarcoidosis complicated with major pulmonary artery obstruction and stenosis.

S. Ohno, S. Nagai, T. Handa, 2012, Internal medicine.

Pandora will never regret having opened her box: reappraisal of genes associated with CPVT and SQTS.

M. Horie, S. Ohno, Tomohiko Ai, 2021, European heart journal.

Novel electrocardiographic criteria for short QT syndrome in children and adolescents.

M. Horie, S. Ohno, N. Makita, 2021, 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.

Mutation Site-Speciﬁc Differences in Arrhythmic Risk and Sensitivity to Sympathetic Stimulation in the LQT1 Form of Congenital Long QT Syndrome Multicenter Study in Japan

S. Priori, M. Horie, S. Ohno, 2016 .

A novel mutation associated with Jervell and Lange-Nielsen syndrome in a Japanese family.

M. Horie, T. Kita, S. Ohno, 2008, Circulation journal : official journal of the Japanese Circulation Society.

Disrupted Cav1.2 Selectivity Causes Overlapping Long QT and Brugada Syndrome Phenotypes in CACNA1C-E1115K iPS Cell Model.

M. Horie, F. Toyoda, K. Yoshiura, 2022, Heart rhythm.

Successful Management of a Young Athlete with Type 2 Long QT Syndrome by Genotype-specific Risk Stratification and Bridging Therapy with a Wearable Cardioverter Defibrillator

M. Horie, S. Ohno, Y. Nakagawa, 2022, Internal medicine.

A challenge for mutation specific risk stratification in long QT syndrome type 1.

M. Horie, S. Ohno, H. Itoh, 2018, Journal of cardiology.

Differential Diagnosis Between Catecholaminergic Polymorphic Ventricular Tachycardia and Long QT Syndrome Type 1

M. Horie, S. Ohno, A. Saitoh, 2018 .

Differential Diagnosis Between Catecholaminergic Polymorphic Ventricular Tachycardia and Long QT Syndrome Type 1 ― Modified

M. Horie, S. Ohno, A. Saitoh, 2018 .

Channelopathies Heart rate-dependent variability of cardiac events in type 2 congenital long-QT syndrome

W. Shimizu, M. Horie, S. Ohno, 2010 .

Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome.

W. Shimizu, M. Horie, S. Ohno, 2008, Circulation journal : official journal of the Japanese Circulation Society.

Efficacy and safety of flecainide for ventricular arrhythmias in patients with Andersen-Tawil syndrome with KCNJ2 mutations.

W. Shimizu, M. Horie, H. Hayashi, 2015, Heart rhythm.

Phenotype Variability in Patients Carrying Kcnj2 Mutations Running Title: Kimura Et Al.; Phenotype Variability in Kcnj2 Mutations

M. Horie, S. Ohno, W. Zang, 2022 .

Pediatric Cohort With Long QT Syndrome　- KCNH2 Mutation Carriers Present Late Onset But Severe Symptoms.

M. Horie, S. Ohno, A. Saitoh, 2016, Circulation journal : official journal of the Japanese Circulation Society.

Early repolarization and risk of arrhythmia events in long QT syndrome.

M. Horie, S. Ohno, T. Minamino, 2016, International journal of cardiology.

Fetal arrhythmogenic right ventricular cardiomyopathy with double mutations in TMEM43

S. Ohno, M. Ishii, Yuji Kanai, 2016, Pediatrics international : official journal of the Japan Pediatric Society.

Impact of the T-wave characteristics on distinguishing arrhythmogenic right ventricular cardiomyopathy from healthy children.

H. Horigome, S. Ohno, S. Kogaki, 2020, International journal of cardiology.

A rare KCNE1 polymorphism, D85N, as a genetic modifier of long QT syndrome

W. Shimizu, M. Horie, Y. Nakano, 2014 .

Postoperative supraventricular tachycardia and polymorphic ventricular tachycardia due to a novel SCN5A variant: a case report of a rare comorbidity that is difficult to diagnose

M. Horie, S. Ohno, Y. Nakagawa, 2020, BMC Cardiovascular Disorders.

Sick sinus syndrome with HCN 4 mutations shows early onset and frequent association with atrial fi brillation and left ventricular noncompaction

W. Shimizu, M. Horie, H. Horigome, 2017 .

Identification of a KCNQ1 Polymorphism Acting as a Protective Modifier Against Arrhythmic Risk in Long-QT Syndrome

P. Schwartz, D. Trégouët, W. Shimizu, 2013, Circulation. Cardiovascular genetics.

Allele‐specific ablation rescues electrophysiological abnormalities in a human iPS cell model of long‐QT syndrome with a CALM2 mutation

M. Horie, Takeshi Kimura, K. Sasaki, 2017, Human molecular genetics.

High Frequency of Early Repolarization and Brugada‐Type Electrocardiograms in Hypercalcemia

M. Horie, S. Ohno, T. Minamino, 2016, Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc.

Identification of a novel exon3 deletion of RYR2 in a family with catecholaminergic polymorphic ventricular tachycardia

M. Horie, S. Ohno, M. Kurabayashi, 2019, Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc.

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.

M. Horie, H. Horigome, S. Ohno, 2019, Circulation journal : official journal of the Japanese Circulation Society.

Multigenerational Inheritance of Long QT Syndrome Type 2 in a Japanese Family.

M. Horie, S. Ohno, H. Itoh, 2016, Internal medicine.

Medical Castration is a Rare but Possible Trigger of Torsade de Pointes and Ventricular Fibrillation.

M. Horie, S. Ohno, H. Tada, 2019, International heart journal.

Bradycardia Is a Specific Phenotype of Catecholaminergic Polymorphic Ventricular Tachycardia Induced by RYR2 Mutations

M. Horie, S. Ohno, H. Itoh, 2018, Internal medicine.

Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan.

K. Aonuma, M. Horie, H. Horigome, 2013, Circulation journal : official journal of the Japanese Circulation Society.

Mutations of the Cardiac Ryanodine Recepter (RyR2) Gene in Catecholaminergic Polymorphic Ventricular Tachycardia

M. Horie, S. Ohno, Makoto Ito, 2011 .

Progressive Atrial Conduction Defects Associated With Bone Malformation Caused by a Connexin-45 Mutation.

R. Redon, N. Hagiwara, M. Horie, 2017, Journal of the American College of Cardiology.

Left-Dominant Arrhythmogenic Cardiomyopathy With Heterozygous Mutations in DSP and MYBPC3.

M. Horie, N. Hasebe, S. Ohno, 2019, Circulation. Cardiovascular imaging.

Arrhythmogenic right-ventricular cardiomyopathy with plakophilin-2 genetic variant concomitant with early manifestation of ventricular tachyarrhythmia: a case series

M. Horie, S. Ohno, N. Takahashi, 2022, European heart journal. Case reports.

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

M. Horie, F. Toyoda, S. Ohno, 2022, Scientific Reports.

Elimination of Ventricular Arrhythmia in Catecholaminergic Polymorphic Ventricular Tachycardia by Targeting “Catecholamine‐Sensitive Area”: A Dominant‐Subordinate Relationship between Origin Sites of Bidirectional Ventricular Premature Contractions

K. Hirao, M. Isobe, M. Horie, 2017, Pacing and clinical electrophysiology : PACE.

Copy number variations of SCN5A in Brugada syndrome.

A. Kobori, M. Horie, Tetsuhisa Hattori, 2018, Heart rhythm.

How Should We Treat School-Aged Children With Borderline QT Prolongation?

S. Ohno, 2017, Circulation journal : official journal of the Japanese Circulation Society.

Case report of a ventricular fibrillation storm with a cardiac conduction disorder and HCN4 variant 18 years after ablation of atrial flutter

S. Ohno, T. Aiba, K. Fukuzawa, 2022, European heart journal. Case reports.

Response by Sakamoto et al to Letter Regarding Article, "Left-Dominant Arrhythmogenic Cardiomyopathy With Heterozygous Mutations in DSP and MYBPC3".

M. Horie, N. Hasebe, S. Ohno, 2019, Circulation. Cardiovascular imaging.

Erratum to “Optical Recording of Action Potentials in Human Induced Pluripotent Stem Cell-Derived Cardiac Single Cells and Monolayers Generated from Long QT Syndrome Type 1 Patients”

M. Horie, S. Ohno, K. Chonabayashi, 2019, Stem cells international.

Mutation site-specific differences in arrhythmic risk and sensitivity to sympathetic stimulation in the LQT1 form of congenital long QT syndrome: multicenter study in Japan.

S. Priori, J. Towbin, W. Shimizu, 2004, Journal of the American College of Cardiology.

Targeted deep sequencing analyses of long QT syndrome in a Japanese population

A. Sekine, Toshihiro Tanaka, T. Tsunoda, 2022, PloS one.

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

M. Horie, S. Ohno, M. Fukuyama, 2020, Journal of Human Genetics.

Chronic manganese poisoning: A neuropathological study with determination of manganese distribution in the brain

H. Watanabe, S. Ohno, I. Okayasu, 2004, Acta Neuropathologica.

An International Multicenter Cohort Study on β-Blockers for the Treatment of Symptomatic Children With Catecholaminergic Polymorphic Ventricular Tachycardia

J. Skinner, E. Behr, P. Schwartz, 2021, Circulation.

Clinical examination of HBV co-infection in subjects infected with HIV

N. Yoshida, S. Ohno, Hideki Nakamura, 2015 .

Title Patient-specific human induced pluripotent stem cell model assessed with electrical pacing validates S107 as a potential therapeutic agent for catecholaminergic polymorphic ventricular tachycardia

S. Yamanaka, S. Matsuoka, A. Takeuchi, 2018 .

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

Dan M Roden, Beverley Balkau, Pierre Lindenbaum, 2013, Nature Genetics.

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

E. Ashley, A. Bollmann, E. Kaufman, 2022, 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.

E. Ashley, E. Kaufman, E. Behr, 2022, Heart rhythm.

Estimating the Posttest Probability of Long QT Syndrome Diagnosis for Rare KCNH2 Variants

D. Roden, P. Schwartz, W. Shimizu, 2021, Circulation. Genomic and precision medicine.

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

R. Redon, P. Lambiase, P. Ellinor, 2020, Genetics in medicine : official journal of the American College of Medical Genetics.

Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome

T. Werge, P. Ellinor, S. Priori, 2020, Circulation.

Association of zygotic piRNAs derived from paternal P elements with hybrid dysgenesis in Drosophila melanogaster

S. Ohno, K. Wakisaka, K. Ichiyanagi, 2018, Mobile DNA.

Diversity of P-element piRNA production among M' and Q strains and its association with P-M hybrid dysgenesis in Drosophila melanogaster

S. Ohno, K. Wakisaka, K. Ichiyanagi, 2017, Mobile DNA.

Home blood pressure variability and subclinical atherosclerosis in multiple vascular beds: a population-based study

T. Ohkubo, M. Horie, H. Arima, 2018, Journal of hypertension.

Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry.

E. Behr, P. Schwartz, G. Parati, 2019, European heart journal.

A Japanese Family with Long QT Syndrome: Distinct Genetic and Phenotypic Features in Children of Asymptomatic Parents with SCN5A and KCNQ1 Mutations

M. Horie, S. Ohno, G. Izumi, 2017 .

The genetic background of arrhythmogenic right ventricular cardiomyopathy

S. Ohno, 2016, Journal of arrhythmia.

Molecular Genetics of ERS

M. Horie, S. Ohno, 2018 .

Atrioventricular block-induced Torsades de Pointes with clinical and molecular backgrounds similar to congenital long QT syndrome.

W. Shimizu, M. Horie, S. Ohno, 2010, Circulation journal : official journal of the Japanese Circulation Society.

Identification and functional characterization of KCNQ1 mutations around the exon 7-intron 7 junction affecting the splicing process.

T. Ishii, M. Horie, F. Toyoda, 2011, Biochimica et biophysica acta.

Mechanistic basis for the pathogenesis of long QT syndrome associated with a common splicing mutation in KCNQ1 gene.

T. Ishii, M. Horie, T. Kita, 2007, Journal of molecular and cellular cardiology.

A novel SCN5A gain-of-function mutation M1875T associated with familial atrial fibrillation.

Keiko Tsuji, Minoru Horie, Toru Kita, 2008, Journal of the American College of Cardiology.

Association of Genetic and Clinical Aspects of Congenital Long QT Syndrome With Life-Threatening Arrhythmias in Japanese Patients

Toshihiro Tanaka, N. Hagiwara, H. Morita, 2019, JAMA cardiology.

Autonomic Function and QT Interval During Night-Time Sleep in Infant Long QT Syndrome.

S. Ohno, Y. Ishikawa, M. Yoshinaga, 2018, Circulation journal : official journal of the Japanese Circulation Society.

Arrhythmia risk and β-blocker therapy in pregnant women with long QT syndrome

W. Shimizu, T. Akasaka, Yukiko Nakano, 2017, Heart.

A molecular mechanism for adrenergic-induced long QT syndrome.

Minoru Horie, Brian P Delisle, M. Horie, 2014, Journal of the American College of Cardiology.

A novel KCNQ1 missense mutation identified in a patient with juvenile-onset atrial fibrillation causes constitutively open IKs channels.

Yoshihide Nakamura, Minoru Horie, Hideki Itoh, 2014, Heart rhythm.

A novel gain-of-function KCNJ2 mutation associated with short-QT syndrome impairs inward rectification of Kir2.1 currents.

Minoru Horie, Toru Kita, Hideki Itoh, 2012, Cardiovascular research.

A Novel KCNJ2 Nonsense Mutation, S369X, Impedes Trafficking and Causes a Limited Form of Andersen-Tawil Syndrome

M. Horie, Takeshi Kimura, T. Morimoto, 2011, Circulation. Cardiovascular genetics.

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

M. Horie, I. Watanabe, Kimie Ohkubo, 2017, Heart rhythm.

Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study.

W. Shimizu, M. Horie, K. Hayashi, 2010, Heart Rhythm.

Mutation site-specific differences in arrhythmic risk and sensitivity to sympathetic stimulation in the LQT1 form of congenital long QT syndrome

S. Priori, J. Towbin, W. Shimizu, 2004 .

LMNA Missense Mutation Causes Nonsense-Mediated mRNA Decay and Severe Dilated Cardiomyopathy

M. Horie, S. Ohno, T. Ozawa, 2020, Circulation. Genomic and precision medicine.

Variants in the SCN5A Promoter Associated With Various Arrhythmia Phenotypes

R. Redon, Toshihiro Tanaka, T. Tsunoda, 2016, Journal of the American Heart Association.

Additional Gene Variants Reduce Effectiveness of Beta‐Blockers in the LQT1 Form of Long QT Syndrome

W. Shimizu, S. Matsuoka, A. Noma, 2004, Journal of cardiovascular electrophysiology.

A Genome-wide Association Study in the Diabetic Patients Finds the 13q35.43-35.46 Locus Associated with Estimated Glomerular Filtration Rate: The Japan Multi-Institutional Collaborative Cohort Study

M. Kubo, Hidemi Ito, N. Kuriyama, 2018 .

Smoking, Smoking Cessation, and Measures of Subclinical Atherosclerosis in Multiple Vascular Beds in Japanese Men

K. Nozaki, T. Ohkubo, K. Murata, 2016, Journal of the American Heart Association.

Association of zygotic piRNAs derived from paternal P elements with hybrid dysgenesis in Drosophila melanogaster

S. Ohno, K. Wakisaka, K. Ichiyanagi, 2018, Mobile DNA.

Diagnostic value of P-waves in children with idiopathic restrictive cardiomyopathy

H. Horigome, S. Ohno, S. Kogaki, 2021, Heart and Vessels.

Genetic basis of Brugada syndrome

M. Horie, S. Ohno, 2013 .

Novel Calmodulin Variant p.E46K Associated With Severe Catecholaminergic Polymorphic Ventricular Tachycardia Produces Robust Arrhythmogenicity in Human Induced Pluripotent Stem Cell–Derived Cardiomyocytes

M. Horie, F. Toyoda, K. Woltjen, 2023, Circulation. Arrhythmia and electrophysiology.

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

Minoru Horie, Kanae Hasegawa, M. Horie, 2015, PloS one.

Impact of cascade screening for catecholaminergic polymorphic ventricular tachycardia type 1

M. Horie, S. Ohno, T. Aiba, 2022, Heart.

Enhanced CICR activity reduces ER Ca2+ level in cells expressing CPVT-linked mutant RyR2

M. Iino, F. Yamashita, M. Horie, 2021, bioRxiv.

Identification of transmembrane protein 168 mutation in familial Brugada syndrome

H. Morita, M. Horie, F. Toyoda, 2020, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Mutation analysis of the glycerol-3 phosphate dehydrogenase-1 like (GPD1L) gene in Japanese patients with Brugada syndrome.

M. Horie, T. Kita, S. Ohno, 2008, Circulation journal : official journal of the Japanese Circulation Society.

Genetic Basis of Early Repolarization Syndrome

M. Horie, S. Ohno, K. Sonoda, 2016 .

Circadian pattern of fibrillatory events in non-Brugada-type idiopathic ventricular fibrillation with a focus on J waves.

M. Haissaguerre, K. Aonuma, M. Horie, 2014, Heart rhythm.

A de novo gain-of-function KCND3 mutation in early repolarization syndrome.

M. Horie, S. Ohno, T. Ashihara, 2019, Heart rhythm.

Genetic screening of KCNJ8 in Japanese patients with J‐wave syndromes or idiopathic ventricular fibrillation

M. Horie, S. Ohno, M. Fukuyama, 2013 .

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

M. Horie, Takeshi Kimura, S. Ohno, 2021, 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.

Complex aberrant splicing in the induced pluripotent stem cell-derived cardiomyocytes from a patient with long QT syndrome carrying KCNQ1-A344Aspl mutation.

M. Horie, Takeshi Kimura, K. Sasaki, 2018, Heart rhythm.

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

S. Yamanaka, S. Matsuoka, A. Takeuchi, 2016, PloS one.

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

M. Horie, S. Ohno, H. Ogawa, 2018, Communications Biology.

Ultrastructural maturation of human-induced pluripotent stem cell-derived cardiomyocytes in a long-term culture.

Shinya Yamanaka, Minoru Horie, Toru Kita, 2013, Circulation journal : official journal of the Japanese Circulation Society.

Mutant KCNJ3 and KCNJ5 Potassium Channels as Novel Molecular Targets in Bradyarrhythmias and Atrial Fibrillation

K. Kawakami, I. Komuro, M. Horie, 2019, Circulation.

Association of Red Meat Intake with the Risk of Cardiovascular Mortality in General Japanese Stratified by Kidney Function: NIPPON DATA80

H. Arima, H. Ueshima, S. Ohno, 2020, Nutrients.

Sudden death after inappropriate shocks of implantable cardioverter defibrillator in a catecholaminergic polymorphic ventricular tachycardia case with a novel RyR2 mutation.

M. Horie, S. Ohno, T. Anzai, 2021, Journal of electrocardiology.

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

C. Dina, H. Morita, W. Shimizu, 2021, European heart journal.

SCN5A Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in SCN5A Families

R. Redon, E. Behr, T. Meitinger, 2020, Circulation. Genomic and precision medicine.

Systematic Evaluation of KCNQ1 Variant Using ACMG/AMP Guidelines and Risk Stratification in Long QT Syndrome Type 1.

H. Morita, W. Shimizu, M. Horie, 2020, Circulation Genomic and Precision Medicine.

Propranolol Attenuates Late Sodium Current in a Long QT Syndrome Type 3-Human Induced Pluripotent Stem Cell Model

M. Horie, Takeshi Kimura, S. Ohno, 2020, Frontiers in Cell and Developmental Biology.

High Prevalence of Late-Appearing T-Wave in Patients With Long QT Syndrome Type 8.

M. Horie, S. Ohno, Y. Nakagawa, 2020, Circulation journal : official journal of the Japanese Circulation Society.

Implantable cardioverter-defibrillators in previously undiagnosed patients with catecholaminergic polymorphic ventricular tachycardia resuscitated from sudden cardiac arrest.

J. Skinner, E. Behr, P. Schwartz, 2019, European heart journal.

Sex‐Dependent Phenotypic Variability of an SCN5A Mutation: Brugada Syndrome and Sick Sinus Syndrome

M. Horie, S. Ito, K. Kosaki, 2018, Journal of the American Heart Association.

A hERG mutation E1039X produced a synergistic lesion on IKs together with KCNQ1-R174C mutation in a LQTS family with three compound mutations

J. Hancox, M. Horie, F. Toyoda, 2018, Scientific Reports.

Genotype-Phenotype Correlation of SCN5A Mutation for the Clinical and Electrocardiographic Characteristics of Probands With Brugada Syndrome: A Japanese Multicenter Registry

Toshihiro Tanaka, N. Hagiwara, H. Morita, 2017, Circulation.

Nonsense-mediated mRNA decay due to a CACNA1C splicing mutation in a patient with Brugada syndrome.

M. Horie, S. Ohno, H. Itoh, 2014, Heart rhythm.

Optical Recording of Action Potentials in Human Induced Pluripotent Stem Cell-Derived Cardiac Single Cells and Monolayers Generated from Long QT Syndrome Type 1 Patients

M. Horie, S. Ohno, K. Chonabayashi, 2019, Stem cells international.

Title Optical Recording of Action Potentials in Human Induced Pluripotent Stem Cell-Derived Cardiac Single Cells and Monolayers Generated from Long QT Syndrome Type 1 Patients

M. Horie, S. Ohno, K. Chonabayashi, 2019 .

Gain‐of‐Function KCNH2 Mutations in Patients with Brugada Syndrome

M. Horie, S. Ohno, N. Takahashi, 2014, Journal of cardiovascular electrophysiology.

Latent Genetic Backgrounds and Molecular Pathogenesis in Drug-Induced Long-QT Syndrome

M. Horie, I. Watanabe, E. Watanabe, 2009, Circulation. Arrhythmia and electrophysiology.

LMNA cardiomyopathy detected in Japanese arrhythmogenic right ventricular cardiomyopathy cohort.

M. Horie, S. Ohno, N. Takahashi, 2016, Journal of cardiology.

Macro-pro-B-type natriuretic peptide (proBNP) and hidden macro-N-terminal proBNP: Case report.

M. Horie, Takeshi Kimura, S. Ohno, 2017, Clinical biochemistry.

Exon 3 deletion of RYR2 encoding cardiac ryanodine receptor is associated with left ventricular non-compaction.

M. Horie, S. Ohno, N. Makita, 2014, 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.

Catecholaminergic polymorphic ventricular tachycardia managed as orthostatic dysregulation and epilepsy in 11‐ and 15‐year‐old sisters

M. Horie, S. Ohno, T. Futatani, 2018, Pediatrics international : official journal of the Japan Pediatric Society.

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

M. Horie, S. Ohno, M. Fukuyama, 2020, Journal of Human Genetics.

Novel intracellular transport-refractory mutations in KCNH2 identified in patients with symptomatic long QT syndrome.

M. Horie, S. Ohno, M. Omatsu-Kanbe, 2017, Journal of cardiology.

KCNE5 Variants Are Novel Modulators of Brugada Syndrome and Idiopathic Ventricular Fibrillation

M. Horie, Tetsuhisa Hattori, S. Ohno, 2011 .

Familial sick sinus syndrome possibly associated with novel SCN5A mutation diagnosed in pregnancy

S. Ohno, K. Ono, N. Takahashi, 2020, HeartRhythm case reports.

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

M. Horie, F. Toyoda, Takeshi Kimura, 2017, Circulation journal : official journal of the Japanese Circulation Society.

Investigation on the optimal implantation site and setting of Reveal LINQ® avoiding interference with performance of transthoracic echocardiography

M. Nojima, Hironori Murakami, S. Ohno, 2018, Journal of Arrhythmia.

Association Between Deleterious SCN5A Variants and Ventricular Septal Defect in Young Patients With Brugada Syndrome.

M. Horie, S. Ohno, T. Aiba, 2022, JACC. Clinical electrophysiology.

針刺し・切創事故の実態と対策(携帯型針捨て容器の有用性について)

S. Ohno, H. Hosomi, Ayumi Noda, 2000 .

KCNE3 T4A as the genetic basis of Brugada-pattern electrocardiogram.

M. Horie, S. Ohno, M. Kurabayashi, 2012, Circulation journal : official journal of the Japanese Circulation Society.

KCNE2 modulation of Kv4.3 current and its potential role in fatal rhythm disorders.

J. Towbin, J. Brugada, R. Brugada, 2010, Heart rhythm.

Mosaic KCNJ2 mutation in Andersen–Tawil syndrome: targeted deep sequencing is useful for the detection of mosaicism

M. Horie, S. Ohno, H. Itoh, 2015, Clinical genetics.

P5860Novel RYR2 mutations causative for long QT syndromes

M. Horie, S. Ohno, M. Fukuyama, 2017 .

Brugada syndrome in spinal and bulbar muscular atrophy

G. Sobue, M. Horie, S. Ohno, 2014, Neurology.

Computerized misinterpretation of QT interval in 12‐lead electrocardiogram and its clinical consequences: A case of recurrent syncope

M. Horie, S. Ohno, H. Tada, 2023, Journal of arrhythmia.

L-type calcium channel mutations in Japanese patients with inherited arrhythmias.

M. Horie, S. Ohno, Makoto Ito, 2013, Circulation journal : official journal of the Japanese Circulation Society.

Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry

Ashutosh Kumar Singh, Jeffrey M. Vinocur, E. Behr, 2023, European heart journal.

Calmodulinopathy in Japanese Children　- Their Cardiac Phenotypes Are Severe and Show Early Onset in Fetal Life and Infancy.

M. Horie, S. Ohno, Y. Nakagawa, 2023, Circulation journal : official journal of the Japanese Circulation Society.

Non-missense variants of KCNH2 show better outcomes in type 2 long QT syndrome.

M. Horie, S. Ohno, M. Fukuyama, 2023, 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.

Electrical storm in an infant with short‐coupled variant of torsade de pointes

M. Horie, S. Ohno, M. Hoshiai, 2018, Journal of arrhythmia.

High-risk long QT syndrome mutations in the Kv7.1 (KCNQ1) pore disrupt the molecular basis for rapid K(+) permeation.

Daniel C Bartos, A. Moss, K. Campbell, 2012, Biochemistry.

Novel SCN10A variants associated with Brugada syndrome.

M. Horie, S. Ohno, M. Fukuyama, 2016, 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.

Prevalence and characteristics of the Brugada electrocardiogram pattern in patients with arrhythmogenic right ventricular cardiomyopathy

C. Izumi, S. Ohno, T. Aiba, 2021, Journal of arrhythmia.

Phenotypic Variability of ANK2 Mutations in Patients With Inherited Primary Arrhythmia Syndromes.

Toshihiro Tanaka, T. Tsunoda, W. Shimizu, 2016, Circulation journal : official journal of the Japanese Circulation Society.

遺伝子に刻まれた旅の記憶

S. Ohno, 2022, Japanese Journal of Electrocardiology.

Clinical Manifestations and Long-Term Mortality in Lamin A/C Mutation Carriers From a Japanese Multicenter Registry.

W. Shimizu, K. Aonuma, M. Horie, 2018, Circulation Journal.

Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study.

W. Shimizu, M. Horie, K. Hayashi, 2010, Heart rhythm.

Ultrastructural maturation of human-induced pluripotent stem cell-derived cardiomyocytes in a long-term culture.

S. Yamanaka, M. Horie, Takeshi Kimura, 2013, Circulation journal : official journal of the Japanese Circulation Society.

A novel KCNQ1 missense mutation identified in a patient with juvenile-onset atrial fibrillation causes constitutively open IKs channels.

M. Horie, F. Toyoda, B. Delisle, 2014, Heart rhythm.

Meningitis caused by Chromobacterium haemolyticum suspected to be derived from a canal in Japan: a case report

S. Ohno, Y. Matsumura, M. Nagao, 2023, Journal of Medical Case Reports.

A significance of school screening electrocardiogram in the patients with ventricular noncompaction

H. Horigome, S. Ohno, Hideto Takahashi, 2020, Heart and Vessels.

Cardiac Channelopathies Associated with Infantile Fatal Ventricular Arrhythmias: From the Cradle to the Bench

M. Horie, S. Ohno, T. Nakanishi, 2014, Journal of cardiovascular electrophysiology.

Atrioventricular block-induced Torsades de Pointes with clinical and molecular backgrounds similar to congenital long QT syndrome.

W. Shimizu, M. Horie, S. Ohno, 2010, Circulation journal : official journal of the Japanese Circulation Society.

Novel KCNE3 mutation reduces repolarizing potassium current and associated with long QT syndrome

W. Shimizu, M. Horie, F. Toyoda, 2009, Human mutation.

Contribution of a KCNH2 variant in genotyped long QT syndrome: Romano-Ward syndrome under double mutations and acquired long QT syndrome under heterozygote.

M. Horie, K. Hayashi, M. Yamagishi, 2017, Journal of cardiology.

Pediatric Cohort With Long QT Syndrome　- KCNH2 Mutation Carriers Present Late Onset But Severe Symptoms.

M. Horie, S. Ohno, A. Saitoh, 2016, Circulation journal : official journal of the Japanese Circulation Society.

Phenotype Variability in Patients Carrying KCNJ2 Mutations

M. Horie, S. Ohno, W. Zang, 2012, Circulation. Cardiovascular genetics.

A Novel KCNJ2 Nonsense Mutation, S369X, Impedes Trafficking and Causes a Limited Form of Andersen-Tawil Syndrome

M. Horie, Takeshi Kimura, T. Morimoto, 2011, Circulation. Cardiovascular genetics.

A Common Mutation of Long QT Syndrome Type 1 in Japan.

W. Shimizu, E. Schulze-Bahr, M. Horie, 2015, Circulation journal : official journal of the Japanese Circulation Society.

Pueraria mirifica, an estrogenic tropical herb, unveiled the severity of Type 1 LQTS caused by KCNQ1‐T587M

M. Horie, S. Ohno, Y. Hosaka, 2021, Journal of arrhythmia.

Medical Castration is a Rare but Possible Trigger of Torsade de Pointes and Ventricular Fibrillation.

M. Horie, S. Ohno, H. Tada, 2019, International heart journal.

Macro-pro-B-type natriuretic peptide (proBNP) and hidden macro-N-terminal proBNP: Case report.

M. Horie, Takeshi Kimura, S. Ohno, 2017, Clinical biochemistry.

Transethnic genome-wide association study provides insights in the genetic architecture and heritability of long QT syndrome Running title: Genome-wide association study in long QT syndrome

T. Werge, P. Ellinor, S. Priori, 2020 .

E. Ashley, A. Bollmann, E. Kaufman, 2022, Journal of arrhythmia.

A molecular mechanism for adrenergic-induced long QT syndrome.

M. Horie, B. Delisle, S. Ohno, 2014, Journal of the American College of Cardiology.

Clinical characterization of type 1 long QT syndrome caused by C-terminus Kv7.1 variants.

S. Ohno, H. Itoh, M. Fukuyama, 2024, Heart rhythm.

TAD boundary deletion causes PITX2-related cardiac electrical and structural defects

S. Mundlos, A. Boland, S. Ohno, 2024, Nature communications.

Prediagnostic electrocardiographic and echocardiographic findings of biopsy‐proven hypertrophic cardiomyopathy

S. Ohno, H. Ishibashi-Ueda, M. Yoshinaga, 2018, Journal of arrhythmia.

An International Multicenter Cohort Study on Implantable Cardioverter Defibrillators for the Treatment of Symptomatic Children with Catecholaminergic Polymorphic Ventricular Tachycardia.

S. Ohno, T. Robyns, S. Sanatani, 2024, Heart rhythm.

Brugada syndrome in Japan and Europe: a genome-wide association study reveals shared genetic architecture and new risk loci.

R. Redon, Y. Okada, S. Ohno, 2024, European heart journal.

Holter Electrocardiographic Approach to Predicting Outcomes of Pediatric Patients With Long QT Syndrome.

S. Ohno, M. Fukuyama, Y. Ninomiya, 2023, Circulation journal : official journal of the Japanese Circulation Society.

Vasospastic angina preceding diagnosis of arrhythmogenic cardiomyopathy in a young athlete

S. Ohno, K. Kato, Minoru Horie, 2024, HeartRhythm Case Reports.