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2016 Fiscal Year Annual Research Report

Multilateral Research on the Mechanisms of Inherited Arrhythmias

Research Project

Project/Area Number 15H04818
Research InstitutionShiga University of Medical Science

Principal Investigator

堀江 稔  滋賀医科大学, 医学部, 教授 (90183938)

Co-Investigator(Kenkyū-buntansha) 大野 聖子  滋賀医科大学, アジア疫学研究センター, 特任講師 (20610025)
伊藤 英樹  滋賀医科大学, 医学部, 講師 (30402738)
牧山 武  京都大学, 医学研究科, 助教 (30528302)
林 秀樹  滋賀医科大学, 医学部, 講師 (70464188)
芦原 貴司  滋賀医科大学, 医学部, 助教 (80396259)
Project Period (FY) 2015-04-01 – 2018-03-31
Keywords遺伝性不整脈 / 循環器・高血圧 / 遺伝子 / コピー数変動 / SCN5A / ブルガダ症候群
Outline of Annual Research Achievements

ヒトゲノムプロジェクトは、人類の全ゲノム配列を解読し、その結果、多くのSNPも同定された。ヒトの病気や薬に対する反応性診関わる遺伝的背景も、2007年から実施されたHapMapプロジェクトで明らかにされ、ヒトでは実に310万個のものSNPが同定された。この研究はその後のGenomeWide AssociationSutdy(ゲノムワイド関連解析)への展開に繋がった。さらに、短時間に大量のゲノム情報を読み取ることが出来る次世代シークエンサの開発により、この分野の研究量は飛躍的に増加した。われわれは、1996年(最初の遺伝性QT延長症候群の関連遺伝子が報告された翌年)から、倫理委員会の承認を受け、患者さんより同意を得て、各種循環器疾患の臨床像とゲノムの集積を続けている。たとえば、遺伝性QT延長症候群に関しては、現時点で822名(家系)の発端者について検討しており、そのうち465名で遺伝子異常を同定している。このコホートの大きさは、海外の大きな研究チームに比べても遜色がない。
平成28年度は、このようなデータベースを元に、同様の研究を進めている海外の研究室とも共同研究を行っている。フランス第6大学、 Pascale Guicheney教授とのグループとは、重症遺伝性不整脈症例で同定された変異についての既報解析をすすめている。また、オランダ、アムステルダム アカデミックメディカルセンター のBezzina 教授とは、ブルガダ症候群の新規遺伝子異常の同定を共同で行っている。さらにおなじ大学の臨床部門のWilde教授、Lieve先生とはCPVT症例のデータベース作りが進行中である。長年共同研究している西安交通大学、薬理学教室のWu教授らとは、実際に中国の若手研究者を当教室に派遣いただき、一緒に電気生理学実験などを実施した。共同研究の関連で、4人の海外からの先生の学内講演を行った。

Current Status of Research Progress
Current Status of Research Progress

1: Research has progressed more than it was originally planned.

Reason

1996年(最初の遺伝性QT延長症候群の関連遺伝子が報告された翌年)から集積している、遺伝性不整脈を中心とした遺伝性循環器疾患の臨床データベースは、現在、4900例を越え、世界の動揺のコホートの中でも有数のものとなっている。このため、正解中から共同研究の要請があり、平成28年度は、上述のようにさらに多くの海外の研究者との共同研究が進展した。フランス、イタリアの臨床グループと共同で、遺伝性不整脈の中でも最も頻度が高い遺伝性QT延長症候群を188症例集積し、その遺伝的背景を詳しく検討した結果、約30%にすでに報告されている先天性QT延長症候群の原因遺伝子に、変異を同定した。さらに、簡単なスコアリング方法で、患者さんの変異陽性率を予測することが出来ることをEuropean Heart Journal誌に報告した。また、日本人QT延長症候群のデータベースを基に、近年、updateされたシュワルツスコアのvalidationを行った(JACC Clin Electrophysiolに掲載)。さらに、遺伝性不整脈の中でも、非常に短いCoupling時間で繋がる心室性期外収縮から、いきなり心室細動を来すshort-coupled variant of torsade de pointes (ScTdP)の遺伝的背景は長らく不明であったが、われわれの7例の検討から、うち4例に、心筋sarcoplasmic reticulumのCaチャネルであるRyanodine受容体チャネル遺伝子(RYR2)の変異を同定した順天堂大学薬離学教室との共同研究で、これらのRYR2 変異のうち、典型的なScTdPで発見されたものでは、著名なloss-of-functionを来すことを明らかとした。このRyanodine受容体チャネルの変異の発見は、世界に先駆けてのものであった(Heart Rhythm誌に発表)

Strategy for Future Research Activity

遺伝性不整脈は、近年、ヒトゲノムプロジェクトをはじめとする分子遺伝学の急速な進歩により明らかとされてきた新しい疾患概念である。すなわち、心臓のイオンチャネルあるいはその関連蛋白をコードする遺伝子の多種多様な変異や一塩基置換(single nucleotide polymorphism: SNP)により招来される疾患群である。幸いなことに、これらの蛋白群は、興奮精細胞の活動電位形成に関与しているため、パッチクランプ法で、その機能を解析することができる。本研究課題では、それに加えて、患者さんから得られる血液より分化したiPS細胞より心筋細胞を作成し、おなじくパッチクランプ法を用いて機能解析を行うことが出来る。現在、ブルガダ症候群、先天性QT延長症候群、カテコラミン誘発多型性心室頻拍、ラミン心筋症などの多様な疾患のiPS由来心筋細胞が分化誘導できており、電気生理学的にNa電流、Ca電流が、安定して記録できるようになってきている。今後、展開すべき研究の推進方向である。
さらに、これらのWet実験で得られた知見をコンピュータシュミレーションに組み込む形で、活動電位や不整脈の再構築を試みている。これらの多方面からのアプローチにより。遺伝性不整脈の発症機序に迫る研究を展開する。

  • Research Products

    (90 results)

All 2017 2016

All Journal Article (55 results) (of which Int'l Joint Research: 14 results,  Peer Reviewed: 52 results,  Open Access: 31 results) Presentation (28 results) (of which Int'l Joint Research: 28 results) Book (7 results)

  • [Journal Article] Japanese Circulation Society and the Japanese Society of Therapeutic Drug Monitoring Joint Working Group: Guidelines for Therapeutic Drug Monitoring of Cardiovascular Drugs Clinical Use of Blood Drug Concentration Monitoring (JCS 2015) - Digest Version.2017

    • Author(s)
      Aonuma K, Horie M, et al.
    • Journal Title

      Circulation Journal

      Volume: 81 Pages: 581-612

    • DOI

      10.1253/circj.CJ-66-0138. Epub 2017 Mar 9.

    • Peer Reviewed / Open Access
  • [Journal Article] Incidence and Prognostic Impact of Heart Failure Hospitalization During Follow-up after Primary Percutaneous Coronary Intervention in ST-segment Elevation Myocardial Infarction.2017

    • Author(s)
      Taniguchi T, Horie M, et al.
    • Journal Title

      American Journal of Cardiology

      Volume: 印刷中 Pages: -

    • DOI

      10.1016/j.amjcard.2017.03.013.

    • Peer Reviewed
  • [Journal Article] Utility of phase standard deviation and histogram bandwidth by "Heart Function View" analysis as a clinical indicator of heart failure.2017

    • Author(s)
      Tomita Y, Nakae I, Hayashi H, Ozawa T, Horie M
    • Journal Title

      Annals of Nuclear Medicine

      Volume: 印刷中 Pages: -

  • [Journal Article] Cardiac conduction defects and brugada syndrome: A Family with overlap syndrome carrying a nonsense SCN5A mutation.2017

    • Author(s)
      Aoki H, Nakamura T, Horie M, Ohno S, Makiyama T, Takemura T
    • Journal Title

      Journal of Arrhythmia

      Volume: 33 Pages: 35-39

    • DOI

      10.1016/j.joa.2016.05.007.

    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Genotype-phenotype correlation of SCN5A mutation for clinical and electrocardiographic characteristics of probands with Brugada syndrome: Japanese Multicenter Registry.2017

    • Author(s)
      Yamagata K, Horie M, et al.
    • Journal Title

      Circulation

      Volume: 印刷中 Pages: -

    • DOI

      10.1161/CIRCULATIONAHA.117.027983.

    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] The relationship between J waves and contact of lung cancer with the heart.2017

    • Author(s)
      Hayashi H, Wu Q, Horie M
    • Journal Title

      Ann Noninvasive Electrocardiol

      Volume: 印刷中 Pages: -

    • DOI

      10.1111/anec.12433.

    • Peer Reviewed
  • [Journal Article] Arrhtyhmia risk and β-blocker therapy in pregnant women with long QT syndrome.2017

    • Author(s)
      Ishibashi K, Horie M, et al.
    • Journal Title

      Heart

      Volume: 印刷中 Pages: -

    • DOI

      10.1136/heartjnl-2016-310617.

    • Peer Reviewed
  • [Journal Article] Flecainide suppresses an arrhythmogenic substrate through NCX flux modulation in Andersen-Tawil syndrome-induced pluripotent stem cell-derived cardiomyocytes.2017

    • Author(s)
      Kuroda Y, Horie M, et al.
    • Journal Title

      Biochemistry and Biophysics Research

      Volume: 印刷中 Pages: -

    • Peer Reviewed
  • [Journal Article] Allele-specific Ablation Rescues Electrophysiological Abnormalities in a Human iPS Cell Model of Long-QT Syndrome with a CALM2 Mutation.2017

    • Author(s)
      Yamamoto Y, Horie M, et al.
    • Journal Title

      Human Molecular Genetics

      Volume: 印刷中 Pages: -

    • DOI

      10.1093/hmg/ddx073

    • Peer Reviewed / Open Access
  • [Journal Article] Contribution of a KCNH2 variant in genotyped long QT syndrome: Romano-Ward syndrome under double mutations and acquired long QT syndrome under heterozygote.2017

    • Author(s)
      Fujii Y, Horie M, et al.
    • Journal Title

      J Cardiol

      Volume: 印刷中 Pages: -

    • DOI

      10.1016/j.jjcc.2016.09.010.

    • Peer Reviewed
  • [Journal Article] Sick sinus syndrome with HCN4 mutations shows early onset and frequent association with atrial fibrillation and left ventricular noncompaction.2017

    • Author(s)
      Ishikawa T, Horie M, et al.
    • Journal Title

      Heart Rhythm

      Volume: 印刷中 Pages: -

    • DOI

      10.1016/j.hrthm.2017.01.020.

    • Peer Reviewed
  • [Journal Article] Ad hoc vs. Non-ad hoc Percutaneous Coronary Intervention Strategies in Patients With Stable Coronary Artery Disease.2017

    • Author(s)
      Toyota T, Horie M, et al.
    • Journal Title

      Circ J

      Volume: 81 Pages: 458-467

    • DOI

      10.1253/circj.CJ-16-0987.

    • Open Access
  • [Journal Article] Significance of integrated in silico 2-dimensional transmural ventricular wedge preparation models of human non-failing and failing hearts for evaluation of drug candidates cardiac safety.2017

    • Author(s)
      Kubo T, Horie M, et al.
    • Journal Title

      Journal of Pharmacological and Toxicological Methods

      Volume: 83 Pages: 30-41

    • DOI

      10.1016/j.vascn.2016.08.007.

    • Peer Reviewed / Open Access
  • [Journal Article] Quantitative analysis of PKP2 and neighbouring genes in a patient with arrhythmogenic right ventricular cardiomyopathy caused by heterozygous PKP2 deletion.2017

    • Author(s)
      Sonoda K, Horie M, et al.
    • Journal Title

      Europace

      Volume: 印刷中 Pages: -

    • Peer Reviewed / Open Access
  • [Journal Article] Ad-hoc Versus Non-ad-hoc percutaneous coronary intervention strategies in patients with stable coronary artery disease.2017

    • Author(s)
      Toyota T,Horie M, et al.
    • Journal Title

      Circ J

      Volume: 印刷中 Pages: -

    • Peer Reviewed
  • [Journal Article] 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.2017

    • Author(s)
      Shirai Y, Horie M, et al.
    • Journal Title

      PACE

      Volume: 印刷中 Pages: -

    • DOI

      10.1111/pace.13006.

    • Peer Reviewed
  • [Journal Article] Flecainide ameliorates arrhythmogenicity through NCX flux in Andersen-Tawil syndrome-iPS cell-derived cardiomyocytes.2017

    • Author(s)
      Kuroda Y, Horie M, et al.
    • Journal Title

      Biochemistry and Biophysics Reports.

      Volume: 印刷中 Pages: -

    • Peer Reviewed
  • [Journal Article] Multigenerational inheritance of long QT syndrome type 2 in a Japanese family.2016

    • Author(s)
      Ichikawa M, Ohno S, Fujii Y, Ozawa J, Sonoda K, Fukuyama M, Kato K, Kimura H, Itoh H, Hayashi H, Horie M
    • Journal Title

      Internal Med.

      Volume: 55 Pages: 259-262

    • DOI

      10.2169/internalmedicine.55.6014

    • Peer Reviewed / Open Access
  • [Journal Article] Cardiac sodium channel mutation associated with epinephrine-induced QT prolongation and sinus node dysfunction.2016

    • Author(s)
      Chen J, Makiyama T, Wuriyanghai Y, Ohno S, Sasaki K, Hayano M, Harita T, Nishiuchi S, Yamamoto Y, Ueyama T, Shimizu A, Horie M, Kimura T
    • Journal Title

      Heart Rhythm

      Volume: 13 Pages: 289-298

    • DOI

      10.1016/j.hrthm.2015.08.021

    • Peer Reviewed
  • [Journal Article] Lipoprotein-associated phospholipase A2 related to the risk of subclinical atherosclerosis independent of small low density lipoprotein particles in a general Japanese population2016

    • Author(s)
      Ueshima H, Horie M, et al.
    • Journal Title

      Athelosclerosis.

      Volume: 246 Pages: 141-147

    • DOI

      10.1016/j.atherosclerosis.2015.12.027.

    • Peer Reviewed
  • [Journal Article] Efficacy of Antiarrhythmic drugs Short-Term use after catheter ablation for Atrial Fibrillation (EAST-AF) trial.2016

    • Author(s)
      Kaitani K, Horie M, et al.
    • Journal Title

      European Heart Journal

      Volume: 37 Pages: 610-618

    • DOI

      10.1093/eurheartj/ehv501.

    • Peer Reviewed / Open Access
  • [Journal Article] Practical Applicability of Landiolol, an Ultra-short-acting β1-selective Blocker, for Rapid Atrial and Ventricular Tachyarrhythmias with Left Ventricular Dysfunction.2016

    • Author(s)
      Wada Y, Horie M, et al.
    • Journal Title

      Journal of Arrhythmia

      Volume: 32 Pages: 82-88

    • DOI

      10.1016/j.joa.2015.09.002

    • Peer Reviewed / Open Access
  • [Journal Article] Culprit vessel only versus staged multivessel percutaneous coronary intervention strategies in patients with multivessel coronary artery disease undergoing primary percutaneous coronary intervention for ST-segment elevation myocardial infarction.2016

    • Author(s)
      Toyota T, Horie M, et al.
    • Journal Title

      Circulation Journal

      Volume: 80 Pages: 371-378

    • DOI

      10.1253/circj.CJ-15-0493.

    • Peer Reviewed / Open Access
  • [Journal Article] Evaluation and management of bradycardia in neonates and children.2016

    • Author(s)
      Baruteau AE, Horie M, et al.
    • Journal Title

      European Journal of Pediatrics.

      Volume: 175 Pages: 151-161

    • DOI

      10.1007/s00431-015-2689-z

    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Associations of serum LDL particle concentration with carotid intima-media thickness and coronary artery calcification.2016

    • Author(s)
      Zaid M, Horie M,et al.
    • Journal Title

      Journal of Clinical Lipidology

      Volume: 10 Pages: 1195-1202

    • DOI

      10.1016/j.jacl.2015.12.027

    • Peer Reviewed
  • [Journal Article] Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy .2016

    • Author(s)
      Freyermuth F, Horie M, et al.
    • Journal Title

      Nature Communications

      Volume: 7 Pages: 11067

    • DOI

      10.1038/ncomms11067.

    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Impact of Updated Diagnostic Criteria for Long QT Syndrome on Clinical Detection of Diseased Patients: Results from Study of Patients Carrying Gene Mutations.2016

    • Author(s)
      Hayashi K, Horie M, et al.
    • Journal Title

      JACC Clin Electrophysiol

      Volume: 2 Pages: 279-287

    • Peer Reviewed
  • [Journal Article] Relationship of insulin resistance to prevalence and progression of coronary artery calcification beyond metabolic syndrome components: Shiga Epidemiological Study of Subclinical Atherosclerosis (SESSA).2016

    • Author(s)
      Yamazoe M, Horie M, et al.
    • Journal Title

      Arteriosclerosis, Thrombosis, and Vascular Biology

      Volume: 36 Pages: 1703-1708

    • DOI

      10.1161/ATVBAHA.116.307612.

    • Peer Reviewed / Open Access
  • [Journal Article] The Genetics Underlying Acquired Long QT Syndrome. Impact on genetic screening.2016

    • Author(s)
      Itoh H, Horie M, et al.
    • Journal Title

      European Heart Journal

      Volume: 37 Pages: 1456-1464

    • DOI

      10.1093/eurheartj/ehv695.

    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Inter-facility Transfer versus Direct Admission in Patients with ST-segment Elevation Acute Myocardial Infarction Undergoing Primary Percutaneous Coronary Intervention.2016

    • Author(s)
      Nakatsuma K, Horie M, et al.
    • Journal Title

      Circulation Journal

      Volume: 80 Pages: 477-484

    • DOI

      10.1253/circj.CJ-15-0870.

    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) associated with Ryanodine Receptor (RyR2) gene mutations: Long term prognosis and utility of an exercise stress test after initiation of medical treatment.2016

    • Author(s)
      Kawata H, Horie M, et al.
    • Journal Title

      Circulation Journal

      Volume: 80 Pages: 1907-1915

    • DOI

      10.1253/circj.CJ-16-0250

    • Peer Reviewed / Open Access
  • [Journal Article] The genetics underlying the acquired long QT syndrome. Impact for genetic screening.2016

    • Author(s)
      Itoh H, Horie M, et al.
    • Journal Title

      European Heart Journal

      Volume: 37 Pages: 1456-1464

    • DOI

      10.1093/eurheartj/ehv695

    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Novel SCN10A Variants Associated with Brugada Syndrome.2016

    • Author(s)
      Fukuyama M, Ohno S, Makiyama T, Horie M
    • Journal Title

      Europace

      Volume: 18 Pages: 905-911

    • DOI

      10.1093/europace/euv078.

    • Peer Reviewed / Open Access
  • [Journal Article] Molecular Genetics Have Opened a New Era for Arrhythmia Research, but also Pandora’s Box?2016

    • Author(s)
      Horie M
    • Journal Title

      Journal of Arrhythmia

      Volume: 32 Pages: 313-314

    • DOI

      10.1016/j.joa.2016.07.001

    • Peer Reviewed / Open Access
  • [Journal Article] Genetics of Brugada syndrome.2016

    • Author(s)
      uang J-M, Horie M
    • Journal Title

      Journal of Arrhythmia

      Volume: 32 Pages: 418-425

    • DOI

      10.1016/j.joa.2016.07.012

    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] The genetic background of arrhythmogenic right ventricular cardiomyopathy.2016

    • Author(s)
      Ohno S.
    • Journal Title

      Journal of Arrhythmia

      Volume: 32 Pages: 398-403

    • DOI

      10.1016/j.joa.2016.01.006

    • Peer Reviewed / Open Access
  • [Journal Article] A type 2 ryanodine receptor variant associated with reduced Ca2+ release and short-coupled torsade de pointe ventricular arrhythmia.2016

    • Author(s)
      Fujii Y, Horie M, et al.
    • Journal Title

      Heart Rhythm

      Volume: 14 Pages: 98-107

    • DOI

      10.1016/j.hrthm.2016.10.015.

    • Peer Reviewed / Open Access
  • [Journal Article] Variants in the SCN5A promoter associated with various arrhythmia phenotypes.2016

    • Author(s)
      Yagihara N, Horie M, et al.
    • Journal Title

      JAHA

      Volume: 5 Pages: -

    • DOI

      10.1161/JAHA.116.003644.

    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Pediatric cohort with long QT syndrome: KCNH2 mutation carriers have late onset but severe symptoms.2016

    • Author(s)
      Ozawa J, Horie M, et al.
    • Journal Title

      Circulation Journal

      Volume: 80 Pages: 696-702

    • DOI

      10.1253/circj.CJ-15-0933.

    • Peer Reviewed / Open Access
  • [Journal Article] Smoking, Smoking Cessation, and Measures of Subclinical Atherosclerosis in Multiple Vascular Beds in Japanese Men.2016

    • Author(s)
      Hisamatsu T, Horie M, et al.
    • Journal Title

      JAHA

      Volume: 5 Pages: -

    • DOI

      10.1161/JAHA.116.003738.

  • [Journal Article] A novel SCN5A variant associate with drug-induced Brugada Syndrome2016

    • Author(s)
      Turker I, Horie M, et al.
    • Journal Title

      Plos ONE

      Volume: 11 Pages: e0161872

    • DOI

      10.1371/journal.pone.0161872

    • Peer Reviewed / Open Access
  • [Journal Article] J-Wave syndromes expert consensus conference report: Emerging concepts and gaps in knowledge.2016

    • Author(s)
      Antzelevitch C, Horie M, et al.
    • Journal Title

      Heart Rhythm.

      Volume: 13 Pages: e295-324

    • DOI

      10.1016/j.hrthm.2016.05.024.

    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Inherited catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation.2016

    • Author(s)
      Watanabe T, Ohno S, Shirai M, Endoh A, Hongo T, Ueta I, Yoshimoto J
    • Journal Title

      Pediatr Int

      Volume: 58 Pages: 512-515

    • DOI

      10.1111/ped.12910.

    • Peer Reviewed
  • [Journal Article] Significance of integrated in silico 2-dimensional transmural ventricular wedge preparation models of human non-failing and failing hearts for evaluation of drug candidates cardiac safety.2016

    • Author(s)
      Kubo T, Ashihara T, Tsuboutchi T, Horie M
    • Journal Title

      Journal of Pharmacological and Toxicological Methods

      Volume: 18 Pages: 30-41

    • DOI

      10.1016/j.vascn.2016.08.007

    • Peer Reviewed / Open Access
  • [Journal Article] Early repolarization and risk of arrhythmia events in long QT syndrome.2016

    • Author(s)
      Hasegawa K, Horie M, et al.
    • Journal Title

      International Journal of Cardiology

      Volume: 223 Pages: 540-542

    • DOI

      10.1016/j.ijcard.2016.08.215

    • Peer Reviewed
  • [Journal Article] Phenotypic variability of ANK2 mutations in patients with inherited primary arrhythmia syndromes.2016

    • Author(s)
      Ichikawa M, Horie M, et al.
    • Journal Title

      Circulation Journal

      Volume: 80 Pages: 2435- 2442

    • DOI

      10.1253/circj.CJ-16-0486

    • Peer Reviewed / Open Access
  • [Journal Article] Patient-specificHuman Induced Pluripotent Stem Cell Model Assessed with Electrical PacingValidatesS107 as a Potential Therapeutic Agent for Catecholaminergic Polymorphic Ventricular Tachycardia.2016

    • Author(s)
      Sasaki K, Horie M, et al.
    • Journal Title

      PlosOne

      Volume: 11 Pages: e0164795

    • DOI

      10.1371/journal.pone.0164795.

    • Peer Reviewed / Open Access
  • [Journal Article] Asymmetry of parental origin in Long QT syndrome. Preferential maternal transmission of KCNQ1 variants linked to channel dysfunction2016

    • Author(s)
      Itoh H, Horie M, et al.
    • Journal Title

      European Journal of Human Genetics

      Volume: 24 Pages: 1160-1166

    • DOI

      10.1038/ejhg.2015.257

    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Embryonic type Na+ channel β-subunit, SCN3B masks the disease phenotype of Brugada syndrome.2016

    • Author(s)
      Okata S, Horie M, et al.
    • Journal Title

      Sci Rep

      Volume: 6 Pages: 34198

    • DOI

      10.1038/srep34198.

    • Peer Reviewed / Open Access
  • [Journal Article] The relationship between skeletal muscle and ventilatory response to exercise in myocardial infarction.2016

    • Author(s)
      Hayashi H, Horie M, et al.
    • Journal Title

      IJC Metabolic and Endocrine

      Volume: 12 Pages: 14-18

    • DOI

      10.1016/j.ijcme.2016.05.007

    • Peer Reviewed
  • [Journal Article] J-Wave syndromes expert consensus conference report: Emerging concepts and gaps in knowledge: Endorsed by the Asia Pacific Heart Rhythm Society (APHRS), the European Heart Rhythm Association (EHRA), the Heart Rhythm Society (HRS), and the Latin American Society of Cardiac Pacing and Electrophysiology (Sociedad Latinoamericana de Estimulacifin Cardiaca y Electrofsiologia [SOLAECE]).2016

    • Author(s)
      Antzelevitch C, Horie M, et al.
    • Journal Title

      Europace

      Volume: 13 Pages: euw235

    • DOI

      10.1093/europace/euw235

    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] J-wave syndromes expert consensus conference report: Emerging concepts and gaps in knowledge.2016

    • Author(s)
      Antzelevitch C, Horie M, et al.
    • Journal Title

      J Arrhythm

      Volume: 32 Pages: 315-339.

    • DOI

      10.1016/j.joa.2016.07.002

    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Molecular pathogenesis of long QT syndrome type 12016

    • Author(s)
      Wu J, Ding W-G, Horie M
    • Journal Title

      Journal of Arrhythmia

      Volume: 32 Pages: 381-388.

    • DOI

      10.1016/j.joa.2015.12.006

    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Serum level of LOX-1 ligand containing ApoB is associated with increased carotid intima-media thickness in Japanese community-dwelling men, especially those with hypercholesterolemia LOX-1 ligand and IMT in Japanese.2016

    • Author(s)
      Okamura T, SESSA Research Group, et al.
    • Journal Title

      J Clin Lipidol

      Volume: 10 Pages: 172-80

    • DOI

      10.1016/j.jacl.2015.10.010.

    • Peer Reviewed
  • [Journal Article] Extensive Ca2+ leak through K4750Q cardiac ryanodine receptors caused by cytosolic and luminal Ca2+ hypersensitivity.2016

    • Author(s)
      Uehara A, Horie M, et al.
    • Journal Title

      Journal of General Physiology

      Volume: 149 Pages: 199-218

    • DOI

      10.1085/jgp.201611624.

    • Peer Reviewed
  • [Presentation] Roles of Skeletal Muscle in Ventilatory Response to Exercise: Comparison between Myocardial Infarction and Diabetes Mellitus.2016

    • Author(s)
      Hayashi H, Tobita R, Iwai K, Horie M
    • Organizer
      AHA2016
    • Place of Presentation
      New Orleans
    • Year and Date
      2016-11-12 – 2016-11-16
    • Int'l Joint Research
  • [Presentation] High prevalence of late onset T in patients with long QT syndrome type 8.2016

    • Author(s)
      Ohno S, Ozawa J, Fukuyama M, Makiyama T, Horie M.
    • Organizer
      AHA2016
    • Place of Presentation
      New Orleans, USA
    • Year and Date
      2016-11-12 – 2016-11-16
    • Int'l Joint Research
  • [Presentation] A Unique Genetic Background and Prognostic Impact on Non-Caucasian ARVD/C Probands2016

    • Author(s)
      Wada Y, Ohno S, Aiba T, Horie M
    • Organizer
      AHA2016
    • Place of Presentation
      New Orleans, USA
    • Year and Date
      2016-11-12 – 2016-11-16
    • Int'l Joint Research
  • [Presentation] ECG Screening of 1-Month-Old Infants May Prevent Out-of-Hospital Cardiac Arrest in Infancy2016

    • Author(s)
      Yoshinaga M, Ohno S, Ushinohama H, Sato S, Miyamoto T, Tauchi N, Horigome H, Sumitomo N, Shiraishi H, Ichida F, Hata T, Nomura Y, Horie M, Makita N, Nagashima M
    • Organizer
      AHA2016
    • Place of Presentation
      New Orleans
    • Year and Date
      2016-11-12 – 2016-11-16
    • Int'l Joint Research
  • [Presentation] Allele-specific Disruption Rescues Electrophysiological Abnormalities in Human iPS Cell Model of Long-QT Syndrome With a CALM2 Mutation2016

    • Author(s)
      Yamamoto Y, Makiyama T, Harita T, Sasaki K, Hayano M, Nishiuchi S, Wuriyanghai Y, Kohjitani H, Hirose S, Chen J, Ishikawa T, Motomura H, Ohno S, Chonabayashi K, Yoshida Y, Horie M, Makita N, Kimura T.
    • Organizer
      AHA2016,
    • Place of Presentation
      New Orleans, USA
    • Year and Date
      2016-11-12 – 2016-11-16
    • Int'l Joint Research
  • [Presentation] KCNH2 mutation in patients with long QT syndrome type 2.2016

    • Author(s)
      Fukumoto D, Ohno S, Wada Y, Fujii Y, Ichikawa M, Ito H, Ding WG, Matsuura H, Horie M
    • Organizer
      9th APHRS Scientific Session.
    • Place of Presentation
      Korea
    • Year and Date
      2016-10-12 – 2016-10-15
    • Int'l Joint Research
  • [Presentation] Generation of lmna knock out human induced pluripotent stem cells using the crispr-cas9 nickase system.2016

    • Author(s)
      Wuriyanghai Y, Makiyama T, Nishiuchi S, Yokoi F, Hayano M, Yamamoto Y, Harita T, Kohjitani H, Hirose A, Ohno S, Yoshida Y, Horie M, Kimura T
    • Organizer
      9th APHRS Scientific Session
    • Place of Presentation
      Korea
    • Year and Date
      2016-10-12 – 2016-10-15
    • Int'l Joint Research
  • [Presentation] Various ANK2 mutations in patients with inherited primary arrhythmia syndromes.2016

    • Author(s)
      Ichikawa M, Aiba T, Ohno S, Shigemizu D, Ozawa J, Sonoda K, Fukuyama M, Itoh H, Miyamoto Y, Tsunoda T, Makiyama T, Tanaka T, Shimizu W, Horie M
    • Organizer
      9th APHRS Scientific Session
    • Place of Presentation
      Korea
    • Year and Date
      2016-10-12 – 2016-10-15
    • Int'l Joint Research
  • [Presentation] Non desmosomal mutations detected in japanese patients with arrhythmogenic right ventricular cardiomyopathy.2016

    • Author(s)
      Takayama K, Ohno S, Wada Y, Horie M
    • Organizer
      9th APHRS Scientific Session
    • Place of Presentation
      Korea
    • Year and Date
      2016-10-12 – 2016-10-15
    • Int'l Joint Research
  • [Presentation] The RYR2 Mutations Identified Not Only in CPVT But Also Short Coupled Variant of Torsade De Pointes and LQTS.2016

    • Author(s)
      Ohno S
    • Organizer
      APHRS2016
    • Place of Presentation
      Korea
    • Year and Date
      2016-10-12 – 2016-10-15
    • Int'l Joint Research
  • [Presentation] SIMULATION OF IQ-CSRC PROSPECTIVE STUDY USING INTEGRATED IN SILICO 2-DIMENSIONAL TRANSMURAL HUMAN VENTRICULAR WEDGE PREPARATION MODEL.2016

    • Author(s)
      Kubo T, Ashihara T, Tsubouchi T, Bando K, Horie M
    • Organizer
      Safety Pharmacology Society.
    • Place of Presentation
      Canada
    • Year and Date
      2016-09-18 – 2016-09-21
    • Int'l Joint Research
  • [Presentation] A novel CACNA1C mutation identified in a patient with atypical Timothy syndrome exerts both loss- and gain-of-function effects on Cav1.2.2016

    • Author(s)
      Ozawa J, Ohno S, Toyoda F, Itoh H, Fukuyama M, Harita T, Makiyama T, Hiroshi Suzuki, Akihiko Saitoh, Matsuura H, Horie M
    • Organizer
      ESC CONGRESS 2016
    • Place of Presentation
      Rome, Italy
    • Year and Date
      2016-08-26 – 2016-09-01
    • Int'l Joint Research
  • [Presentation] Triple mutations in three major genes for long QT syndrome are very rare but produce severe phenotypes.2016

    • Author(s)
      Ohno S, Wu J, Sonoda K, Itoh H, Makiyama T, Horie M
    • Organizer
      ESC CONGRESS 2016
    • Place of Presentation
      Rome, Italy
    • Year and Date
      2016-08-26 – 2016-09-01
    • Int'l Joint Research
  • [Presentation] Rare Single Nucleotide Polymorphism of SCN10A in Patients with Inherited Primary Arrhythmia Syndromes.2016

    • Author(s)
      Fukuyama M, Ohno S, Ichikawa M, Makiyama T, Horie M
    • Organizer
      ESC CONGRESS 2016
    • Place of Presentation
      Rome, Italy
    • Year and Date
      2016-08-26 – 2016-09-01
    • Int'l Joint Research
  • [Presentation] Specific Phenotypes Caused by RYR2 Mutations Relate with Bradycardia but not with Mutation Locations in RYR2.2016

    • Author(s)
      Ohno S, Ozawa J, Fujii Y, Itoh H, Horie M
    • Organizer
      ESC CONGRESS 2016
    • Place of Presentation
      Rome, Italy
    • Year and Date
      2016-08-26 – 2016-09-01
    • Int'l Joint Research
  • [Presentation] Copy Number Variations in SCN5A associated with Brugada Syndrome.2016

    • Author(s)
      Sonoda K, Ohno S, Ozawa J, Hayano M, Ichikawa M, Ito H, Makiyama T, Horie M
    • Organizer
      ESC CONGRESS 2016
    • Place of Presentation
      Rome, Italy
    • Year and Date
      2016-08-26 – 2016-09-01
    • Int'l Joint Research
  • [Presentation] Triple mutations in three major genes for long QT syndrome are very rare and cause complicated phenotypes with ventricular arrhythmia.2016

    • Author(s)
      Ohno S, Wu J, Mizusawa Y, Sonoda K, Itoh H, Makiyama T, Horie M
    • Organizer
      ESC2016
    • Place of Presentation
      Rome, Italy
    • Year and Date
      2016-08-26 – 2016-09-01
    • Int'l Joint Research
  • [Presentation] Copy number variations in SCN5A associated with Brugada syndrome.2016

    • Author(s)
      Sonoda K, Ohno S, Ozawa J, Hayano M, Ito H, Makiyama T, Horie M
    • Organizer
      ESC2016
    • Place of Presentation
      Rome, Italy
    • Year and Date
      2016-08-26 – 2016-09-01
    • Int'l Joint Research
  • [Presentation] Quickly remapping by novel online phase mapping system complemented by in silico prediction of excitations is very useful for confirming the effectiveness of non-PAF ablation (ExTRa Mapping Project)2016

    • Author(s)
      Ashihara T, Sakata K, Ozawa T, Tsuchiya T, Haraguchi R, Inada S, Nakazawa K, Horie M
    • Organizer
      ESC2016
    • Place of Presentation
      Rome, Italy
    • Year and Date
      2016-08-26 – 2016-09-01
    • Int'l Joint Research
  • [Presentation] New insights in molecular therapeutic mechanism of statin in heart failure using high-throughput tanscriptome analysis.2016

    • Author(s)
      Wada A, Matsumoto T, Fujii M, Taniguchi A, Hara T, Kinoshita M, Horie M
    • Organizer
      ESC2016
    • Place of Presentation
      Rome, Italy
    • Year and Date
      2016-08-26 – 2016-09-01
    • Int'l Joint Research
  • [Presentation] l-cis diltiazem rescues impaired calcium channel inactivation in a patient-specific stem cell model of long QT syndrome with a CACNA1C mutation.2016

    • Author(s)
      Harita T, Makiyama T, Toyoda F, Nishiuchi S, Hayano M, Yamamoto Y, Wuriyanghai Y, Kohjitani H, Ohno S, Yoshida Y, Ueyama T, Yamanaka S, Shimizu A, Horie M, Kimura T
    • Organizer
      ESC2016
    • Place of Presentation
      Rome, Italy
    • Year and Date
      2016-08-26 – 2016-09-01
    • Int'l Joint Research
  • [Presentation] Flecainide suppresses an arrhythmogenic substrate in Andersen-Tawil syndrome-induced pluripotent stem cell-derived cardiomyocytes.2016

    • Author(s)
      Kuroda Y, Yuasa S, Watanabe Y, Ito S, Egashira T, Seki T, Aizawa Y, Hattori T, Okata S, Tanaka A, Horigome H, Kokubun N, Horie M, Kamiya K, Fukuda K
    • Organizer
      ESC2016
    • Place of Presentation
      Rome, Italy
    • Year and Date
      2016-08-26 – 2016-09-01
    • Int'l Joint Research
  • [Presentation] Clinical characteristics and long-term prognosis of patients with genotype-unknown long-QT syndrome.2016

    • Author(s)
      Shimamoto K, Aiba T, Ishibashi K, Kamakura T, Wada M, Miyamoto K, Inoue-Yamada Y, Okamura H, Nagase S, Noda T, Kamakura S, Miyamoto Y, Horie M, Shimizu W, Kusano K
    • Organizer
      ESC2016
    • Place of Presentation
      Rome, Italy
    • Year and Date
      2016-08-26 – 2016-09-01
    • Int'l Joint Research
  • [Presentation] Specific phenotypes caused by RYR2 mutations relate with bradycardia but not with mutation locations in RYR2.2016

    • Author(s)
      Ohno S, Ozawa J, Fujii Y, Itoh H, Horie M
    • Organizer
      ESC2016
    • Place of Presentation
      Rome, Italy
    • Year and Date
      2016-08-26 – 2016-09-01
    • Int'l Joint Research
  • [Presentation] Rare single nucleotide polymorphism of scn10a in patients with inherited primary arrhythmia syndromes.2016

    • Author(s)
      Fukuyama M, Ohno S, Ichikawa M, Makiyama T, Horie M
    • Organizer
      ESC2016
    • Place of Presentation
      Rome, Italy
    • Year and Date
      2016-08-26 – 2016-09-01
    • Int'l Joint Research
  • [Presentation] RYR2 mutations underlying in patients with short-coupled variant of torsade de pointes.2016

    • Author(s)
      Fujii Y, Itoh H, Ohno S, Blancard M, Aoki H, Nakagawa Y, Yamamoto S, Matsui Y, Ichikawa M, Sonoda K, Ozawa T, Ohkubo K, Watanabe I, Guicheney P, Horie M
    • Organizer
      ESC2016
    • Place of Presentation
      Rome, Italy
    • Year and Date
      2016-08-26 – 2016-09-01
    • Int'l Joint Research
  • [Presentation] Incidence of heart failure hospitalization in patients with ST-segment elevation myocardial infarction who underwent primary percutaneous coronary intervention.2016

    • Author(s)
      Taniguchi T, Shiomi H, Morimoto T, Furukawa Y, Nakagawa Y, Horie M, Kimura T
    • Organizer
      ESC2016
    • Place of Presentation
      Rome, Italy
    • Year and Date
      2016-08-26 – 2016-09-01
    • Int'l Joint Research
  • [Presentation] A clinical observational study employing a novel real-time phase mapping system (ExTRa Mapping).2016

    • Author(s)
      Sakata K, Ashihara T, Ozawa T, Tsuchiya T, Haraguchi R, Inada S, Nakazawa K, Horie M
    • Organizer
      Heart Rhythm 2016
    • Place of Presentation
      San Francisco
    • Year and Date
      2016-05-04 – 2016-05-07
    • Int'l Joint Research
  • [Book] Chapter 4: Genetic basis for Early Repolarization Syndrome. In J Wave Syndromes: Brugada and Early Repolarization Syndromes 1st ed.2017

    • Author(s)
      Horie M, Sonoda K, Ohno S
    • Total Pages
      ー
    • Publisher
      Antzelevitch and G-X Yan, Springer, Co
  • [Book] 最近の不整脈診療の進歩-心房細動治療のパラダイムシフト2016

    • Author(s)
      堀江 稔
    • Total Pages
      78
    • Publisher
      大津医師会
  • [Book] 遺伝性不整脈と突然死. 特集 遺伝性不整脈と心臓突然死2016

    • Author(s)
      堀江 稔
    • Total Pages
      ー
    • Publisher
      科学評論社
  • [Book] 別冊医学のあゆみ ・イオンチャネル病のすべて2016

    • Author(s)
      堀江 稔
    • Total Pages
      156
    • Publisher
      医歯薬出版
  • [Book] 心不全における不整脈の治療. 循環器疾患最新の治療2016-20172016

    • Author(s)
      林 秀樹,堀江 稔
    • Total Pages
      636
    • Publisher
      南江堂
  • [Book] はじめに. 医学のあゆみ・心臓突然死の先制医療2016

    • Author(s)
      堀江 稔
    • Total Pages
      70
    • Publisher
      医歯薬出版
  • [Book] 心筋症における心臓突然死を予測する2016

    • Author(s)
      大野聖子
    • Total Pages
      70
    • Publisher
      医歯薬出版

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Published: 2018-01-16  

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