Art

J-GLOBAL ID：201702228418664615   Reference number：17A1213571

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

コネキシン45変異による骨奇形に起因するに関連した進行性心房伝導欠陥【Powered by NICT】

Author (34)： Seki Akiko (Department of Cardiology, Tokyo Women’s Medical University, Tokyo, Japan) ,  Seki Akiko (Support Center for Women Health Care Professionals and Researchers, Tokyo Women’s Medical University, Tokyo, Japan) ,  Ishikawa Taisuke (Department of Molecular Physiology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan) ,  Daumy Xavier (INSERM, CNRS, UNIV Nantes, L’Institut du Thorax, Nantes, France) ,  Mishima Hiroyuki (Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan) ,  Barc Julien (INSERM, CNRS, UNIV Nantes, L’Institut du Thorax, Nantes, France) ,  Sasaki Ryo (Department of Oral and Maxillofacial Surgery, Tokyo Women’s Medical University, Tokyo, Japan) ,  Nishii Kiyomasa (Department of Anatomy and Neurobiology, National Defense Medical College, Tokorozawa, Japan) ,  Saito Kayoko (Institute of Medical Genetics, Tokyo Women’s Medical University, Tokyo, Japan) ,  Urano Mari (Institute of Medical Genetics, Tokyo Women’s Medical University, Tokyo, Japan) ,  Ohno Seiko (Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, Otsu, Japan) ,  Otsuki Saki (Department of Molecular Physiology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan) ,  Kimoto Hiroki (Department of Molecular Physiology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan) ,  Baruteau Alban-Elouen (INSERM, CNRS, UNIV Nantes, L’Institut du Thorax, Nantes, France) ,  Baruteau Alban-Elouen (Department of Congenital Cardiology, Evelina London Children’s Hospital, Guy’s and St. Thomas’ NHS Foundation Trust, London, United Kingdom) ,  Thollet Aurelie (CHU Nantes, L’institut du thorax, Service de Cardiologie, Nantes, France) ,  Fouchard Swanny (CHU Nantes, L’institut du thorax, Service de Cardiologie, Nantes, France) ,  Bonnaud Stephanie (INSERM, CNRS, UNIV Nantes, L’Institut du Thorax, Nantes, France) ,  Parent Philippe (CHRU Brest, Service de Genetique, Brest, France) ,  Shibata Yosaburo (Fukuoka Prefectural University, Tagawa, Japan) ,  Perrin Jean-Philippe (CHU Nantes, Service de Chirurgie Maxillo-Faciale et Stomatologie, Nantes, France) ,  Le Marec Herve (INSERM, CNRS, UNIV Nantes, L’Institut du Thorax, Nantes, France) ,  Le Marec Herve (CHU Nantes, L’institut du thorax, Service de Cardiologie, Nantes, France) ,  Hagiwara Nobuhisa (Department of Cardiology, Tokyo Women’s Medical University, Tokyo, Japan) ,  Mercier Sandra (CHU Nantes, Service de Genetique Medicale, Nantes, France) ,  Horie Minoru (Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, Otsu, Japan) ,  Probst Vincent (INSERM, CNRS, UNIV Nantes, L’Institut du Thorax, Nantes, France) ,  Probst Vincent (CHU Nantes, L’institut du thorax, Service de Cardiologie, Nantes, France) ,  Yoshiura Koh-Ichiro (Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan) ,  Redon Richard (INSERM, CNRS, UNIV Nantes, L’Institut du Thorax, Nantes, France) ,  Redon Richard (CHU Nantes, L’institut du thorax, Service de Cardiologie, Nantes, France) ,  Schott Jean-Jacques (INSERM, CNRS, UNIV Nantes, L’Institut du Thorax, Nantes, France) ,  Schott Jean-Jacques (CHU Nantes, L’institut du thorax, Service de Cardiologie, Nantes, France) ,  Makita Naomasa (Department of Molecular Physiology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan)
Material： Journal of the American College of Cardiology  (J Am Coll Cardiol)
Volume： 70  Issue： 3  Page： 358-370  Publication year： 2017 
JST Material Number： C0559C  ISSN： 0735-1097  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Abstract/Point： Inherited cardiac conduction d...

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Thesaurus term： Atrioventricular Block ,  gene ,  gap junction ,  Phenotype ,  knockout mouse ,  Heredity ,  sick sinus syndrome ,  Bradycardia ,  heart ventricle ,  *Connexins ,  action potential ,  Mutation ,  Genotype ,  *heart atrium ,  *Genetic Variation ,  Cell Physiological Phenomena ,  laboratory animal ,  Mus musculus ,  *transmembrane protein ,  electrophysiology
Semi thesaurus term： *variation(biology) , 【Automatic Indexing@JST】

Author keywords (6)： brachyfacial pattern ,  congenital atrioventricular block ,  connexin-45 ,  dentodigital dysplasia ,  knockout mice ,  whole-exome sequencing

JST classification (4)： Cardiovascular system diseases  (GJ03000C) ,  Genetic variation  (EC01030Y) ,  Cardiovascular system diagnosis  (GJ02000V) ,  Surgical treatment for cardiovascular system diseases  (GJ05030X)

Terms in the title (8)： コネキシン45 ,  変異 ,  骨 ,  奇形 ,  起因 ,  心房 ,  伝導 ,  欠陥