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Novel molecular basis of cardriac conduction disturbance associated with a collagene gene mutation

Research Project

Project/Area Number 15K15311
Research Category

Grant-in-Aid for Challenging Exploratory Research

Allocation TypeMulti-year Fund
Research Field Cardiovascular medicine
Research InstitutionNagasaki University

Principal Investigator

MAKITA Naomasa  長崎大学, 医歯薬学総合研究科(医学系), 教授 (00312356)

Co-Investigator(Kenkyū-buntansha) 牧山 武  京都大学, 医学研究科, 助教 (30528302)
Co-Investigator(Renkei-kenkyūsha) ARAI Yuji  独立行政法人国立循環器病研究センター, 研究所, 室長 (30202724)
ISHIKAWA Taisuke  長崎大学, 医歯薬学総合研究科(医学系), 講師 (60708692)
Project Period (FY) 2015-04-01 – 2018-03-31
Project Status Completed (Fiscal Year 2017)
Budget Amount *help
¥3,640,000 (Direct Cost: ¥2,800,000、Indirect Cost: ¥840,000)
Fiscal Year 2016: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2015: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
Keywordsコラーゲン / 進行性心臓伝導障害 / ノックインマウス / CRISPR/Cas9 / 心臓伝導障害 / CRISPR/cas9 / CRISPR/CAS
Outline of Final Research Achievements

We found a mutation in type 6 collagen (COL6A2) in several families with progressive cardiac conduction defect. COL6A2 was evenly expressed in mouse ventricular wall during the embryonic stage, which became more restricted at the endocardial wall, age-dependently. At the age of one month, COL6A2 was observed nearly exclusively at the cardiac conduction system. Contrary to our expectation, COL6A2 mutation knock-in mice established by using CRISPR/Cas9 system showed no ECG abnormalities even 12 months after birth.

Report

(4 results)
  • 2017 Annual Research Report   Final Research Report ( PDF )
  • 2016 Research-status Report
  • 2015 Research-status Report
  • Research Products

    (75 results)

All 2018 2017 2016 2015 Other

All Int'l Joint Research (3 results) Journal Article (28 results) (of which Int'l Joint Research: 19 results,  Peer Reviewed: 28 results,  Acknowledgement Compliant: 4 results,  Open Access: 19 results) Presentation (42 results) (of which Int'l Joint Research: 17 results,  Invited: 12 results) Book (2 results)

  • [Int'l Joint Research] INSERM/CNRS(フランス)

    • Related Report
      2017 Annual Research Report
  • [Int'l Joint Research] INSERM(フランス)

    • Related Report
      2016 Research-status Report
  • [Int'l Joint Research] INSERM/CNRS(フランス)

    • Related Report
      2015 Research-status Report
  • [Journal Article] Lack of genotype-phenotype correlation in Brugada syndrome and sudden arrhythmic death syndrome families with reported pathogenic SCN1B variants.2018

    • Author(s)
      Gray B, Hasdem C, Ingles J, Aiba T, Makita N, Probst V, Wilde A, Newbury-Ecob R, Sheppard M, Semsarian C, Sy R, Behr E
    • Journal Title

      Heart Rhythm

      Volume: in Press

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] HCN4 pacemaker channels attenuate the parasympathetic response and stabilize the spontaneous firing of the sinoatrial node2018

    • Author(s)
      Kozasa Yuko、Nakashima Noriyuki、Ito Masayuki、Ishikawa Taisuke、Kimoto Hiroki、Ushijima Kazuo、Makita Naomasa、Takano Makoto
    • Journal Title

      The Journal of Physiology

      Volume: 596 Issue: 5 Pages: 809-825

    • DOI

      10.1113/jp275303

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] The Phenotypic Spectrum of a Mutation Hotspot Responsible for the Short QT Syndrome2017

    • Author(s)
      Hu D, Li Y, Zhang J, Pfeiffer R, Gollob MH, Healey J, Harrell DT, Makita N, Abe H, Sun Y, Guo J, Zhang L, Yan G, Mah D, Walsh EP, Leopold HB, Giustetto C, Gaita F, Zienciuk-Krajka A, Mazzanti A, Priori SG, Antzelevitch C, Barajas-Martinez H.
    • Journal Title

      JACC: Clinical Electrophysiology

      Volume: 印刷中 Issue: 7 Pages: 727-743

    • DOI

      10.1016/j.jacep.2016.11.013

    • Related Report
      2017 Annual Research Report 2016 Research-status Report
    • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] Letter to the Editor2017

    • Author(s)
      Ishikawa T, Makita N, Aoki H, Saida Y
    • Journal Title

      J Vet Intern Med

      Volume: 31 Issue: 4 Pages: 967-968

    • DOI

      10.1111/jvim.14781

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [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 Issue: 5 Pages: 717-724

    • DOI

      10.1016/j.hrthm.2017.01.020

    • Related Report
      2017 Annual Research Report 2016 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Flecainide ameliorates arrhythmogenicity through NCX flux in Andersen-Tawil syndrome-iPS cell-derived cardiomyocytes.2017

    • Author(s)
      Kuroda Y, Yuasa S, Watanabe Y, Ito S, Egashira T, ・・・Horie M, Kamiya K, Fukuda K.
    • Journal Title

      Biochemistry and Biophysics Reports

      Volume: 9 Pages: 245-256

    • DOI

      10.1016/j.bbrep.2017.01.002

    • Related Report
      2017 Annual Research Report 2016 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Gene-Based Risk Stratification for Cardiac Disorders in LMNA Mutation Carriers.2017

    • Author(s)
      Nishiuchi S, Makiyama T, Aiba T, Nakajima K, Hirose S, Kohjitani H, Yamamoto Y, Harita T, Hayano M, Wuriyanghai Y, Chen J, Sasaki K, Yagihara N, Ishikawa T, Onoue K, Murakoshi N, Watanabe I, Ohkubo K, Watanabe H, Ohno S, Doi T, Shizuta S, Minamino T, et.al
    • Journal Title

      Circ Cardiovasc Genet.

      Volume: 6 Issue: 6

    • DOI

      10.1161/circgenetics.116.001603

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Postmortem genetic analysis of sudden unexpected death in infancy: neonatal genetic screening may enable the prevention of sudden infant death.2017

    • Author(s)
      Oshima Y, Yamamoto T, Ishikawa T, Mishima H, Matsusue A, Umehara T, Murase T, Abe Y, Kubo SI, Yoshiura KI, Makita N, Ikematsu K.
    • Journal Title

      J Hum Genet.

      Volume: 62 Issue: 11 Pages: 989-995

    • DOI

      10.1038/jhg.2017.79

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Progressive Atrial Conduction Defects Associated With Bone Malformation Caused by a Connexin-45 Mutation.2017

    • Author(s)
      Seki A, Ishikawa T, Daumy X, Mishima H, Barc J, Sasaki R, Nishii K, Saito K, Urano M, Ohno S, Otsuki S, Kimoto H, Baruteau AE, Thollet A, Fouchard S, Bonnaud S, Parent P, Shibata Y, Perrin JP, Le Marec H, Hagiwara N, Mercier S, Horie M, Probst V, Yoshiura KI, Redon R, Schott JJ, Makita N.
    • Journal Title

      J Am Coll Cardiol.

      Volume: 70 Issue: 3 Pages: 358-370

    • DOI

      10.1016/j.jacc.2017.05.039

    • Related Report
      2017 Annual Research Report
    • 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 Issue: 23 Pages: 0-0

    • DOI

      10.1161/circulationaha.117.027983

    • Related Report
      2017 Annual Research Report 2016 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [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 Issue: 9 Pages: 1670-1677

    • DOI

      10.1093/hmg/ddx073

    • Related Report
      2017 Annual Research Report 2016 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] A novel de novo calmodulin mutation in a 6-year-old boy who experienced an aborted cardiac arrest2017

    • Author(s)
      Takahashi K, Ishikawa T, Makita N, Takefuta K, Nabeshima T, Nakayashiro M
    • Journal Title

      HeartRhythm Case Reports

      Volume: 3 Issue: 1 Pages: 69-72

    • DOI

      10.1016/j.hrcr.2016.09.004

    • Related Report
      2017 Annual Research Report 2016 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Progressive atrial conduction system defects associated with bone malformation caused by a connexin45 mutation2017

    • Author(s)
      Seki A, Ishikawa T, Daumy X, Mishima H, Barc J, Sasaki R, Nishii K, Saito K, Urano M, Ohno S, Otsuki S, Kimoto H, Baruteau A, Thollet A, Fouchard S, Bonnaud S, Parent P, Shibata Y, Perrin JP, Le Marec H, Hagiwara N, Mercier S, Horie M, Probst V, Yoshiura KI, Redon R, Schott JJ, Makita N.
    • Journal Title

      J Am Coll Cardiol

      Volume: 印刷中

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Partial IK1 blockade destabilizes spiral wave rotation center without inducing wave breakup and facilitates termination of reentrant arrhythmias in ventricles2016

    • Author(s)
      Kushiyama Y, Honjo H, Niwa R, Takanari H, Yamazaki M, Takemoto Y, Sakuma I, Kodama I, Kamiya K
    • Journal Title

      American Journal of Physiology Heart and Circulatory Physiology

      Volume: 311 Issue: 1 Pages: 750-758

    • DOI

      10.1038/srep34198

    • NAID

      120005946586

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Targeted resequencing identifies TRPM4 as a major gene predisposing to progressive familial heart block type I.2016

    • Author(s)
      Daumy X, Amarouch MY, Lindenbaum P, Bonnaud S, Charpentier E, Bianchi B, Nafzger S, Baron E, Fouchard S, Thollet A, Kyndt F, Barc J, Le Scouarnec S, Makita N, Le Marec H, Dina C, Gourraud JB, Probst V, Abriel H, Redon R, Schott JJ.
    • Journal Title

      Int J Cardiol

      Volume: 207 Pages: 349-358

    • DOI

      10.1016/j.ijcard.2016.01.052

    • Related Report
      2016 Research-status Report 2015 Research-status Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Inherited bradyarrhythmia: A diverse genetic background.2016

    • Author(s)
      Ishikawa T, Tsuji Y, Makita N
    • Journal Title

      Journal of Arrhythmia

      Volume: 印刷中 Issue: 5 Pages: 352-358

    • DOI

      10.1016/j.joa.2015.09.009

    • Related Report
      2016 Research-status Report 2015 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] Variants in the SCN5A Promoter Associated With Various Arrhythmia Phenotypes.2016

    • Author(s)
      Yagihara N,Minamino T,33名中28番
    • Journal Title

      J Am Heart Assoc.

      Volume: 19 Issue: 9 Pages: 644-650

    • DOI

      10.1161/jaha.116.003644

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Reply: Search for Evidence-Based Medicine for Brugada Syndrome: The Complex Network of the Brugada Syndrome2016

    • Author(s)
      Nademanee K, Raju H, De Noronha S, Papadakis M, Robinson L, Rothery S, Makita N, Kowase S, Boonmee N, Vitayakritsirikul V, Ratanarapee S, Sharma S, van der Wal A. C. Christiansen M, Tan H. L, Wilde A. A, Nogami A, Sheppard M. N, Veerakul G, Behr E. R.
    • Journal Title

      J Am Coll Cardiol

      Volume: 67 Issue: 13 Pages: 1658-1659

    • DOI

      10.1016/j.jacc.2016.01.032

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [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(1) Issue: 1 Pages: 289-298

    • DOI

      10.1016/j.hrthm.2015.08.021

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] The genetics underlying acquired long QT syndrome: impact for genetic screening.2016

    • Author(s)
      Itoh H, Crotti L, Aiba T, Spazzolini C, Denjoy I, Fressart V, Hayashi K, Nakajima T, Ohno S, Makiyama T, Wu J, Hasegawa K, Mastantuono E, Dagradi F, Pedrazzini M, Yamagishi M, Berthet M, Murakami Y, Shimizu W, Guicheney P, Schwartz PJ, Horie M.
    • Journal Title

      European Heart Journal

      Volume: 37 (18) Issue: 18 Pages: 1456-1464

    • DOI

      10.1093/eurheartj/ehv695

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] LMNA cardiomyopathy detected in Japanese arrhythmogenic right ventricular cardiomyopathy cohort.2016

    • Author(s)
      Kato K, Takahashi N, Fujii Y, Umehara A, Nishiuchi S, Makiyama T, Ohno S, Horie M
    • Journal Title

      J Cardiol

      Volume: 印刷中 Issue: 4 Pages: 346-51

    • DOI

      10.1016/j.jjcc.2015.10.013

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Novel SCN10A variants associated with Brugada syndrome2016

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

      Europace.

      Volume: 印刷中 Issue: 3 Pages: 520-529

    • DOI

      10.1093/cvr/cvv042

    • Related Report
      2015 Research-status Report
    • Peer Reviewed
  • [Journal Article] Genotype-dependent differences in age of manifestation and arrhythmia complications in short QT syndrome.2015

    • Author(s)
      Harrell DT, Ashihara T, Ishikawa T, et al.
    • Journal Title

      International Journal of Cardiology.

      Volume: 190 Pages: 393-402

    • DOI

      10.1016/j.ijcard.2015.04.090

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Functional Characterization of Rare Variants Implicated in Susceptibility to Lone Atrial Fibrillation.2015

    • Author(s)
      Hayashi K, Konno T, Tada H, Tani S, Liu L, Fujino N, Nohara A, Hodatsu A, Tsuda T, Tanaka Y, Kawashiri MA, Ino H, Makita N, Yamagishi M.
    • Journal Title

      Circ Arrhythm Electrophysiol.

      Volume: 8 Issue: 5 Pages: 1095-1104

    • DOI

      10.1161/circep.114.002519

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] A novel mutation in alpha-myosin heavy chain gene is associated with sick sinus syndrome2015

    • Author(s)
      Ishikawa T, Jou CJ, Nogami A, Kowase S, Arrington CB, Barnett SM, Harrell DT, Arimura T, Tsuji Y, Kimura A, Makita N
    • Journal Title

      Circ Arrhythm Electrophysiol

      Volume: 8 Issue: 2 Pages: 400-108

    • DOI

      10.1161/circep.114.002534

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Molecular Mechanisms Underlying Urate-Induced Enhancement of Kv1.5 Channel Expression in HL-1 Atrial Myocytes2015

    • Author(s)
      Maharani N, Ting YK, Cheng J, Hasegawa A, Kurata Y, Li P, Nakayama Y, Ninomiya H, Ikeda N, Morikawa K, Yamamoto K, Makita N, Yamashita T, Shirayoshi Y, Hisatome I.
    • Journal Title

      Circulation Journal

      Volume: 79 Issue: 12 Pages: 2659-2668

    • DOI

      10.1253/circj.CJ-15-0416

    • NAID

      130005110934

    • ISSN
      1346-9843, 1347-4820
    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Fibrosis, Connexin-43, and Conduction Abnormalities in the Brugada Syndrome2015

    • Author(s)
      Nademanee K, Raju H, de Noronha SV, Papadakis M, Robinson L, Rothery S, Makita N, Kowase S, Boonmee N, Vitayakritsirikul V, Ratanarapee S, Sharma S, van der Wal AC, Christiansen M, Tan HL, Wilde AA, Nogami A, Sheppard MN, Veerakul G, Behr ER
    • Journal Title

      J Am Coll Cardiol

      Volume: 66(18) Issue: 18 Pages: 1976-1986

    • DOI

      10.1016/j.jacc.2015.08.862

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Asymmetry of parental origin in Long QT syndrome. Preferential maternal transmission of KCNQ1 variants linked to channel dysfunction.2015

    • Author(s)
      Itoh H, Berthet M, Fressart V, Denjoy I, Maugenre S, Klug D, Mizusawa Y, Makiyama T, Hofman N, Shimizu W, Wilde AAM, Schulze-Bahr E, Horie M, Tezenas du Montcel S, Guicheney P.
    • Journal Title

      European Journal of Human Genetics

      Volume: - Issue: 8 Pages: 1160-6

    • DOI

      10.1038/ejhg.2015.257

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
  • [Presentation] Genetic and Biophysical Basis of Calmodulinopathy, and Functional Rescue by Genome-Editing in Patient-Derived iPS Cardiomyocytes2017

    • Author(s)
      Makita N.
    • Organizer
      20th International Symposium on Calcium Binding Proteins and Calcium Function in Health and Disease
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] Genetic Mutation of Brugada Syndrome2017

    • Author(s)
      Makita N.
    • Organizer
      Heart Rhythm Society Scientific Sessions
    • Related Report
      2017 Annual Research Report 2016 Research-status Report
    • Int'l Joint Research / Invited
  • [Presentation] Brugada Syndrome: Basic and Clinical Updates, Advancement of Basic Research2017

    • Author(s)
      Makita N.
    • Organizer
      13th Annual Congress European Cardiac Arrhythmia Society
    • Related Report
      2017 Annual Research Report 2016 Research-status Report
    • Int'l Joint Research / Invited
  • [Presentation] Multinational genome-wide association study in long QT syndrome identifies a role for common genetic variation in disease susceptibility and points to a polygenic architecture in mutation-negative cases2017

    • Author(s)
      Lahrouchi N, Makita N et al.
    • Organizer
      Heart Rhythm Society Scientific Sessions
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] De novo and Familial Connexin45 Mutant R75H Causes Progressive Atrioventricular Block Associated with Craniofacial and Dentodigital Dysmorphisms2017

    • Author(s)
      Makita N, Seki A, Ishikawa T, Dawmy X, Mishima H, Barc J, Sasaki R, Nishii K, Saito K, Urano M, Ohno S, Otsuki S, Kimoto H, Baruteau A, Aurelie T, Swanny F, Stephanie B, Parent P, Shibata Y, Perrin JJ, Le Marec H, Hagiwara N, Mercier S, Horie M, Probst V, Yoshiura K, Redon R, Schott J, J.
    • Organizer
      Printemps de la Cardiologie Recherche Fondamentale et Clinique
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] Gene-Based Risk Stratification for Cardiac Disorders in LMNA Mutation Carriers2017

    • Author(s)
      Nishiuchi S, Makiyama T, Aiba T, Nakajima K, Ishikawa T, Murakoshi N, Watanabe H, Ohno S, Doi T, Shizuta S, Minamino T, Saito Y, Oginosawa Y, Nogami A, Aonuma K, Kusano K, Makita N, Shimizu W, Horie M, Kimura T.
    • Organizer
      The 10th Asia Pacific Heart Rhythm Sosiety Scientific Session
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] CALM2-D134H Mutation Associated with Long-QT Syndrome Prevents Inactivation of L-type Ca2+ Currents in Human iPS Cell Derived Cardiomyocytes.2017

    • Author(s)
      Yamamoto Y, Makiyama T, Harita T, Hayano M, Nishiuchi S, Wuriyanghai Y, Kohjitani H, Hirose S, Yokoi F, Ishikawa T, Ohno S, Chinabayashi K, Suda K, Yoshida Y, Horie M, Makita N, Kimura T.
    • Organizer
      The 10th Asia Pacific Heart Rhythm Society Scientific Session
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Sick sinus syndrome caused by HCN4 mutations shows early onset and frequent association with atrial fibrillation and left ventricular non-compaction2017

    • Author(s)
      Ishikawa T, Ohno S, Murakami T, Yoshida K, Fukuoka T, Mishima H, Kimoto H, Aiba T, Nogami A, Sumitomo N, Shimizu W, Horigome H, Yoshiura KI, Horie M, Makita N.
    • Organizer
      Heart Rhythm Society Scientific Sessions
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Mutation in L-type Calcium Channel Cav1.3 (CACNA1D) Underlying a Consanguineous Family Associated with Congenital AV Block and Deaf-Blindness2017

    • Author(s)
      Kimoto H, Ishikawa T, Mishima H, Hasdemir C, Yoshiura K, Makita N.
    • Organizer
      The 10th Asia Pacific Heart Rhythm Society Scientific Session
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Gene-Based Risk Stratification for Cardiac Disorders in LMNA Mutation Carriers in Japan2017

    • Author(s)
      Nishiuchi S, Aiba T, Makiyama T, Nakajima K, Yagihara N, Ishikawa T, Onoue K, Murakoshi N, Watanabe I, Ohkubo K, Watanabe H, Ohno S, Doi T, Shizuta S, Minamino T, Saito Y, Oginosawa Y, Nogami A, Aonuma K, Kusano K, Makita N, Shimizu W, Horie M, Kimura T.
    • Organizer
      American Heart Association Annual Scientific Session 2017
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] CALM2-D134H Mutation Associated With Long-QT Syndrome Delayed Inactivation of L-type Ca2+ Currents in Human iPS Cells Derived Cardiomyocytes.2017

    • Author(s)
      Yamamoto Y, Makiyama T, Harita T, Hayano M, Nishiuchi S, Wuriyanghai Y, Kohjitani H, Hirose S, Yokoi F, Ishikawa T, Ohno S, Chonabayashi K, Suda K, Yoshida Y, Horie M, Makita N, Kimura T.
    • Organizer
      American Heart Association Annual Scientific Session 2017
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] lL-cis-Diltiazem Ameliorates Impaired Calcium Channel Inactivation in a Patient-Specific Stem Cell Model of Long-QT Syndrome with a Calmodulin Mutation2017

    • Author(s)
      Yokoi F, Makiyama T, Harita T, Yamamoto Y, Hayano M, Nishiuchi S, Kohjitani H, Wuriyanghai Y, Hirose S, Toyoda F, Yoshida Y, Makita N, Horie M, Kimura T.
    • Organizer
      The 10th Asia Pacific Heart Rhythm Society Scientific Session
    • Related Report
      2017 Annual Research Report
  • [Presentation] Genetics of Familial Atrial Fibrillation2017

    • Author(s)
      Ishikawa T, Makita N.
    • Organizer
      第81回日本循環器学会学術集会
    • Related Report
      2017 Annual Research Report 2016 Research-status Report
  • [Presentation] Genetic-based risk stratification for cardiac disorders in LMNA mutation carriers2017

    • Author(s)
      Nishiuchi S, Aiba T, Nakajima K, Hirose S, Kohjitani H, Yamamoto Y, Harita T, Hayano M, Sasaki K, Ishikawa T, Onoue K, Saito Y, Kusano K, Makita N, Shimizu W, Horie M, Kimura T.
    • Organizer
      第81回日本循環器学会学術集会
    • Related Report
      2017 Annual Research Report 2016 Research-status Report
  • [Presentation] Genotype-Phenotype Correlation of SCN5A Mutations for the Clinical and Electrocardiographic Characteristics of Probands with Brugada Syndrome: A Japanese Multicenter Registry2017

    • Author(s)
      Yamagata K, Horie M, Aiba T, Ogawa S, Aizawa Y, Ohe T, Yamagishi M, Makita N, Sakurada H, Tanaka T, Shimizu A, Hagiwara N, Kishi R, Nakano Y, Takagi M, Makiyama T, Ohno S, Fukuda K, Watanabe H, Morita H, Hayashi K, Fukushima-Kusano K, Kamakura S, Yasuda S, Ogawa H, Y. M, Kapplinger J, Ackerman M, Shimizu W.
    • Organizer
      第81回日本循環器学会学術集会
    • Related Report
      2017 Annual Research Report 2016 Research-status Report
  • [Presentation] Allele-specific ablation rescues electrophysiological abnormalities in a human iPS cell model of long-QT syndrome with a CALM2 mutation2017

    • Author(s)
      Yamamoto Y, Makiyama T, Harita T, Sasaki K, Wuriyanghai Y, Nishiuchi S, Kohjitani H, Hirose S, Ishikawa T, Motomura H, Ohno S, Yoshida Y, Horie M, Makita N, Kimura T.
    • Organizer
      第81回日本循環器学会学術集会
    • Related Report
      2017 Annual Research Report 2016 Research-status Report
  • [Presentation] Calmodulin Mutations Responsible for Long QT Syndrome and Functional Rescue using a CRISPR/Cas9 System2017

    • Author(s)
      蒔田直昌.
    • Organizer
      第94回日本生理学会大会
    • Related Report
      2017 Annual Research Report
    • Invited
  • [Presentation] ブルガダ症候群の予後予測を目指す変異心筋Naチャネルの機能解析2017

    • Author(s)
      下河舞子, 木本浩貴, 石川泰輔, 蒔田直昌.
    • Organizer
      第68回西日本生理学会
    • Related Report
      2017 Annual Research Report
  • [Presentation] Mutation Spot-sensitive Clinical Features and Risk of Life-threatening Arrhythmia in Long QT Syndrome Type 1 in Japan2017

    • Author(s)
      Aiba T, Makimoto H, Yagihara N, Watanabe H, Ohno S, Hayashi K, Sumitomo N, Yoshinaga M, Morita H, Miyamoto Y, Makita N, Horie M, Yasuda S, Kusano K, Shimizu W.
    • Organizer
      第81回日本循環器学会学術集会
    • Related Report
      2017 Annual Research Report 2016 Research-status Report
  • [Presentation] Mutations in Desmin Gene Uncover Phenotypic Overlap between Progressive Cardiac Conduction Defect with Muscular Dystrophy and Cardiomyopathy2017

    • Author(s)
      木本浩貴, 石川泰輔, 町田紘子, 森田宏, 住友直方, 中村一文, 伊藤浩, バーク・ジュリアン, ショット・ジョンジャック, 蒔田直昌.
    • Organizer
      第81回日本循環器学会学術集会
    • Related Report
      2017 Annual Research Report
  • [Presentation] De novo and Familial Connexin45 Mutant R75H Causes Progressive Atrioventricular Block Associated with Craniofacial and Dentodigital Dysmorphisms2017

    • Author(s)
      Makita N, Seki A, Ishikawa T, Schott JJ. et al.
    • Organizer
      Printemps de la Cardiologie Recherche Fondamentale et Clinique
    • Place of Presentation
      La Cite des Congres, Nantes, France
    • Related Report
      2016 Research-status Report
    • Invited
  • [Presentation] Calmodulin Mutations Responsible for Long QT Syndrome and Functional Rescue using a CRISPR/Cas9 System2017

    • Author(s)
      Makita N.
    • Organizer
      第94回日本生理学会大会
    • Place of Presentation
      アクトシティ浜松(静岡県浜松市)
    • Related Report
      2016 Research-status Report
    • Invited
  • [Presentation] Mutations in Desmin Gene Uncover Phenotypic Overlap between Progressive Cardiac Conduction Defect with Muscular Dystrophy and Cardiomyopathy2017

    • Author(s)
      木本浩樹, 町田紘子, 森田宏, 住友直方, 中村一文, 伊藤浩, バーク・ジュリアン, ショット・ジョンジャック, 蒔田直昌.
    • Organizer
      第81回日本循環器学会学術集会
    • Place of Presentation
      石川県立音楽堂音楽堂(石川県金沢市)
    • Related Report
      2016 Research-status Report
  • [Presentation] Sick sinus syndrome caused by HCN4 mutations shows early onset and frequent association with atrial fibrillation and left ventricular non-compaction2017

    • Author(s)
      Ishikawa T, Ohno S, Murakami T, Yoshida K, Fukuoka T, Mishima H, Kimoto H, Aiba T, Nogami A, Sumitomo N, Shimizu W, Horigome H, Yoshiura K. I, Horie M, Makita N.
    • Organizer
      Heart Rhythm Society Scientific Sessions
    • Place of Presentation
      Chicago, USA
    • Related Report
      2016 Research-status Report
    • Int'l Joint Research
  • [Presentation] Multinational genome-wide association study in long QT syndrome identifies a role for common genetic variation in disease susceptibility and points to a polygenic architecture in mutation-negative cases2017

    • Author(s)
      Lahrouchi N, Tadros R, Makita N. et al
    • Organizer
      Heart Rhythm Society Scientific Sessions
    • Place of Presentation
      Chicago, USA
    • Related Report
      2016 Research-status Report
    • Int'l Joint Research
  • [Presentation] Electrophysiological Features of Patient-specific Human-induced Pluripotent Stem Cell-derived Cardiomyocytes Carrying the SCN5A-D1275N Mutation2016

    • Author(s)
      早野 護、牧山 武
    • Organizer
      日本循環器学会
    • Place of Presentation
      仙台、仙台国際会議場
    • Year and Date
      2016-03-18
    • Related Report
      2015 Research-status Report
  • [Presentation] International Calmodulinopathy Registry (ICaMR)2016

    • Author(s)
      Crotti L, Makita N.
    • Organizer
      American Heart Association's Scientific Sessions
    • Place of Presentation
      New Orleands, USA
    • Related Report
      2016 Research-status Report
  • [Presentation] Selective therapeutic targeting of ion channel rare variants predisposing to lone atrial fibrillation2016

    • Author(s)
      Hayashi K, Fujino N, Tsuda T, Tanaka Y, Ino H, Makita N, Yamagishi M.
    • Organizer
      第63回日本不整脈心電学会学術大会
    • Place of Presentation
      札幌コンベンションセンター(北海道札幌市)
    • Related Report
      2016 Research-status Report
  • [Presentation] Broader Genetic Spectrum of Familial Atrial Arrhythmias Involving Rare Variations in the Common Arrhythmia-Susceptible Genes2016

    • Author(s)
      Ishikawa T, Mishima H, Ohno S, Harrell DT, Tsuji Y, Yoshiura K, Horie M, Makita N.
    • Organizer
      第63回日本不整脈心電学会学術大会
    • Place of Presentation
      札幌コンベンションセンター(北海道札幌市)
    • Related Report
      2016 Research-status Report
  • [Presentation] Overview of Genes Related to Cardiac Conduction2016

    • Author(s)
      Makita N.
    • Organizer
      Korean Heart Rhythm Society 8th Annual Scientific Session
    • Place of Presentation
      KINTEX,Korea
    • Related Report
      2016 Research-status Report
    • Int'l Joint Research / Invited
  • [Presentation] Genetic Background of Inherited Bradyarrhythmia2016

    • Author(s)
      Makita N.
    • Organizer
      Korean Heart Rhythm Society 8th Annual Scientific Session
    • Place of Presentation
      KINTEX,Korea
    • Related Report
      2016 Research-status Report
    • Int'l Joint Research / Invited
  • [Presentation] Common genetic variants at SCN5A, SCN10A, and HEY2 are associated with cardiac conduction disturbance in patients with Brugada syndrome2016

    • Author(s)
      Murakoshi N, Xu D, Nogami A, Makita N, Sekiguchi Y, Kurosaki K, Kowase S, Naruse Y, Aonuma K.
    • Organizer
      第63回日本不整脈心電学会学術大会
    • Place of Presentation
      札幌コンベンションセンター(北海道札幌市)
    • Related Report
      2016 Research-status Report
  • [Presentation] Catheter Ablation of Brugada Syndrome:Further Evidence of Conduction Delay in the Right Ventricular Subepicardium as Mechanism of Brugada ECG and Ventricular Fibrillation2016

    • Author(s)
      Nakagawa H, Sakamoto Y, Yamashiro K, Takagi M, Kusano K, Noda T, Yamazaki M, Honjo H, Makita N, Tsuchiya T, Hoogeudiik MG, Nademanee K.
    • Organizer
      第63回日本不整脈心電学会学術大会
    • Place of Presentation
      札幌コンベンションセンター(北海道札幌市)
    • Related Report
      2016 Research-status Report
  • [Presentation] Novel de novo Calmodulin Mutation in a Pre-school boy Experiencing Aborted Cardiac Arrest2016

    • Author(s)
      Takahashi K, Makita N.
    • Organizer
      第63回日本不整脈心電学会学術大会
    • Place of Presentation
      札幌コンベンションセンター(北海道札幌市)
    • Related Report
      2016 Research-status Report
  • [Presentation] Modeling of long-QT syndrome associated with a calmodulin mutation using human induced pluripotent stem cells2016

    • Author(s)
      Yamamoto Y, Makiyama T, Harita T, Sasaki K, Hayano M, Nishiuchi S, Wuriyanghai Y, Kohjitani H, Hirose S, Cheng J, Ishikawa T, Ohno S, Yoshida Y, Horie M, Makita N, Kimura T.
    • Organizer
      第63回日本不整脈心電学会学術大会
    • Place of Presentation
      札幌コンベンションセンター(北海道札幌市)
    • Related Report
      2016 Research-status Report
  • [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
      American Heat Association Scientific Meeting 2016
    • Place of Presentation
      New Orleans Convention Center, USA
    • Related Report
      2016 Research-status Report
  • [Presentation] 歯牙骨格形成異常を合併する洞不全症候群に固定されたコネキシン45遺伝子変異と機能異常.2016

    • Author(s)
      木本浩樹, 石川泰輔, 西井明子, 斎藤加代子, 三嶋博之, 大槻早紀, 辻幸臣, 吉浦孝一郎, 萩原誠久, 蒔田直昌.
    • Organizer
      第67回西日本生理学会
    • Place of Presentation
      レインボー桜島(鹿児島県鹿児島市)
    • Related Report
      2016 Research-status Report
  • [Presentation] SCN5A and ventricular arrhythmias.2015

    • Author(s)
      Makita N
    • Organizer
      Asian Pacific Heart Rhythm Society
    • Place of Presentation
      Melbourne, Australia.
    • Year and Date
      2015-11-22
    • Related Report
      2015 Research-status Report
    • Int'l Joint Research / Invited
  • [Presentation] Cardiac Sodium Channel Mutation Associated With Epinephrine-Induced QT Prolongation and Sinus Node Dysfunction,2015

    • Author(s)
      陳 嘉容、牧山 武
    • Organizer
      日本不整脈学会/日本心電学会
    • Place of Presentation
      京都、京都国際会議場
    • Year and Date
      2015-07-28
    • Related Report
      2015 Research-status Report
  • [Presentation] New genes for Progressive Cardiac Conduction Disease2015

    • Author(s)
      Makita N
    • Organizer
      Heart Rhythm Society
    • Place of Presentation
      Boston,USA.
    • Year and Date
      2015-05-14
    • Related Report
      2015 Research-status Report
    • Int'l Joint Research / Invited
  • [Presentation] Structural and Electrophysiological Characteristic of Human Induced Pluripotent Stem Cell-derived Cardiomyocytes,2015

    • Author(s)
      牧山 武
    • Organizer
      日本循環器学会
    • Place of Presentation
      大阪、大阪国際会議場
    • Year and Date
      2015-04-24
    • Related Report
      2015 Research-status Report
    • Invited
  • [Presentation] Genetic Backgrounds of Patients with Clinically Diagnosed Idiopathic Ventricular Fibrillation2015

    • Author(s)
      糀谷 泰彦、牧山 武
    • Organizer
      日本循環器学会
    • Place of Presentation
      大阪、大阪国際会議場
    • Year and Date
      2015-04-24
    • Related Report
      2015 Research-status Report
  • [Book] 不整脈診療クリニカルクエスチョン2002015

    • Author(s)
      蒔田直昌
    • Total Pages
      333
    • Publisher
      診断と治療社
    • Related Report
      2015 Research-status Report
  • [Book] 不整脈症候群2015

    • Author(s)
      蒔田直昌
    • Total Pages
      196
    • Publisher
      南江堂
    • Related Report
      2015 Research-status Report

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Published: 2015-04-16   Modified: 2019-03-29  

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