文献

J-GLOBAL ID：201802245705871470   整理番号：18A1114846

非疾患ドナーおよび拡張型心筋症患者における心臓トランスクリプトームの自然遺伝的変異【JST・京大機械翻訳】

Natural genetic variation of the cardiac transcriptome in non-diseased donors and patients with dilated cardiomyopathy

著者 (54件)： Heinig Matthias (Institute of Computational Biology, Helmholtz Zentrum Muenchen, Muenchen, Germany) ,  Heinig Matthias (Department of Informatics, Technical University of Munich, Munich, Germany) ,  Adriaens Michiel E. (Department of Clinical and Experimental Cardiology, Heart Center, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands) ,  Adriaens Michiel E. (Maastricht Centre for Systems Biology, Maastricht University, Maastricht, The Netherlands) ,  Schafer Sebastian (National Heart Research Institute Singapore, National Heart Centre Singapore, Singapore, Singapore) ,  Schafer Sebastian (Division of Cardiovascular & Metabolic Disorders, Duke-National University of Singapore, Singapore, Singapore) ,  Deutekom Hanneke W. M. van (Department of Clinical and Experimental Cardiology, Heart Center, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands) ,  Lodder Elisabeth M. (Department of Clinical and Experimental Cardiology, Heart Center, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands) ,  Ware James S. (National Heart and Lung Institute, Imperial College London, London, UK) ,  Ware James S. (NIHR Cardiovascular Biomedical Research Unit at Royal Brompton and Harefield Hospitals and Imperial College London, London, UK) ,  Ware James S. (Medical Research Council (MRC) London Institute of Medical Sciences, Faculty of Medicine, Imperial College London, London, UK) ,  Schneider Valentin (Cardiovascular and Metabolic Sciences, Max-Delbrueck-Center for Molecular Medicine (MDC) in the Helmholtz Association, Berlin, Germany) ,  Felkin Leanne E. (National Heart and Lung Institute, Imperial College London, London, UK) ,  Felkin Leanne E. (NIHR Cardiovascular Biomedical Research Unit at Royal Brompton and Harefield Hospitals and Imperial College London, London, UK) ,  Creemers Esther E. (Department of Clinical and Experimental Cardiology, Heart Center, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands) ,  Meder Benjamin (Institute for Cardiomyopathies Heidelberg & Department of Cardiology, Angiology and Pneumology, University Heidelberg, Heidelberg, Germany) ,  Meder Benjamin (Deutsches Zentrum fuer Herz-Kreislauf-Forschung, Heidelberg/Mannheim, Germany) ,  Katus Hugo A. (Institute for Cardiomyopathies Heidelberg & Department of Cardiology, Angiology and Pneumology, University Heidelberg, Heidelberg, Germany) ,  Katus Hugo A. (Deutsches Zentrum fuer Herz-Kreislauf-Forschung, Heidelberg/Mannheim, Germany) ,  Ruehle Frank (Institute of Human Genetics, Genetic Epidemiology, University of Muenster, Muenster, Germany) ,  Stoll Monika (Institute of Human Genetics, Genetic Epidemiology, University of Muenster, Muenster, Germany) ,  Stoll Monika (Department of Biochemistry, Genetic Epidemiology and Statistical Genetics, CARIM School for Cardiovascular Diseases, Maastricht Center for Systems Biology (MaCSBio), Maastricht University, Maastricht, The Netherlands) ,  Cambien Francois (Sorbonne Universites, UPMC Univ Paris 06, INSERM UMRS 1166, Team Genomics & Pathophysiology of Cardiovascular Diseases, Paris, France) ,  Cambien Francois (ICAN Institute for Cardiometabolism and Nutrition, Paris, France) ,  Villard Eric (Sorbonne Universites, UPMC Univ Paris 06, INSERM UMRS 1166, Team Genomics & Pathophysiology of Cardiovascular Diseases, Paris, France) ,  Villard Eric (ICAN Institute for Cardiometabolism and Nutrition, Paris, France) ,  Charron Philippe (ICAN Institute for Cardiometabolism and Nutrition, Paris, France) ,  Charron Philippe (Universite Versailles Saint Quentin, AP-HP, CESP, INSERM U1018, Hopital Ambroise Pare, Boulogne-Billancourt, France) ,  Varro Andras (Department of Pharmacology and Pharmacotherapy, Faculty of Medicine, University of Szeged, Szeged, Hungary) ,  Bishopric Nanette H. (Department of Medicine, University of Miami School of Medicine, Miami, USA) ,  Bishopric Nanette H. (Department of Molecular and Cellular Pharmacology, University of Miami School of Medicine, Miami, USA) ,  George Alfred L. (Division of Genetic Medicine, Department of Medicine, Vanderbilt University, Nashville, USA) ,  George Alfred L. (Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, USA) ,  Remedios Cristobal dos (Sydney Heart Bank, Department of Anatomy, Bosch Institute, The University of Sydney, Sydney, Australia) ,  Moreno-Moral Aida (Program in Cardiovascular and Metabolic Disorders, Center for Computational Biology, DUKE-NUS Medical School, Singapore, Singapore) ,  Pesce Francesco (National Heart and Lung Institute, Imperial College London, London, UK) ,  Pesce Francesco (NIHR Cardiovascular Biomedical Research Unit at Royal Brompton and Harefield Hospitals and Imperial College London, London, UK) ,  Bauerfeind Anja (Cardiovascular and Metabolic Sciences, Max-Delbrueck-Center for Molecular Medicine (MDC) in the Helmholtz Association, Berlin, Germany) ,  Rueschendorf Franz (Cardiovascular and Metabolic Sciences, Max-Delbrueck-Center for Molecular Medicine (MDC) in the Helmholtz Association, Berlin, Germany) ,  Rintisch Carola (Cardiovascular and Metabolic Sciences, Max-Delbrueck-Center for Molecular Medicine (MDC) in the Helmholtz Association, Berlin, Germany) ,  Petretto Enrico (Program in Cardiovascular and Metabolic Disorders, Center for Computational Biology, DUKE-NUS Medical School, Singapore, Singapore) ,  Barton Paul J. (National Heart and Lung Institute, Imperial College London, London, UK) ,  Barton Paul J. (NIHR Cardiovascular Biomedical Research Unit at Royal Brompton and Harefield Hospitals and Imperial College London, London, UK) ,  Cook Stuart A. (National Heart Research Institute Singapore, National Heart Centre Singapore, Singapore, Singapore) ,  Cook Stuart A. (Division of Cardiovascular & Metabolic Disorders, Duke-National University of Singapore, Singapore, Singapore) ,  Cook Stuart A. (National Heart and Lung Institute, Imperial College London, London, UK) ,  Cook Stuart A. (NIHR Cardiovascular Biomedical Research Unit at Royal Brompton and Harefield Hospitals and Imperial College London, London, UK) ,  Cook Stuart A. (Medical Research Council (MRC) London Institute of Medical Sciences, Faculty of Medicine, Imperial College London, London, UK) ,  Pinto Yigal M. (Department of Clinical and Experimental Cardiology, Heart Center, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands) ,  Bezzina Connie R. (Department of Clinical and Experimental Cardiology, Heart Center, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands) ,  Hubner Norbert (Cardiovascular and Metabolic Sciences, Max-Delbrueck-Center for Molecular Medicine (MDC) in the Helmholtz Association, Berlin, Germany) ,  Hubner Norbert (Deutsches Zentrum fuer Herz-Kreislauf-Forschung, Heidelberg/Mannheim, Germany) ,  Hubner Norbert (Charite-Universitaetsmedizin, Berlin, Germany) ,  Hubner Norbert (Deutsches Zentrum fuer Herz-Kreislauf-Forschung, Berlin, Germany)
資料名： Genome Biology (Web)  (Genome Biology (Web))
巻： 18  号： 1  ページ： 170  発行年： 2017年 
JST資料番号： U7384A  ISSN： 1474-760X  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： イギリス (GBR)  言語： 英語 (EN)

抄録/ポイント： 背景:遺伝的変異はRNA転写とスプライシングの重要な決定因子であり,それは心臓血管疾患を含むヒト形質の変化に寄与する。【結果】著者らは,拡張型心筋症患者97名および非罹患対照108名におけるRNA配列決定を用いて,心臓トランスクリプトーム変異の最初の徹底的調査を報告する。著者らは,拡張型心筋症患者と対照との間の遺伝子発現とスプライシングの広範な差異を明らかにし,既知の拡張型心筋症遺伝子と同様に知られている。さらに,著者らは,転写,アイソフォーム使用,および対立遺伝子特異的発現の調節に及ぼす遺伝的変異の広範な影響を示す。全ゲノム関連SNPの系統的アノテーションは,心臓表現型に対する60の機能的候補遺伝子を同定し,すべての公表されている心臓全ゲノム関連遺伝子座の20%を代表する。拡張型心筋症表現型に焦点を合わせると,eQTL変異体は2つの独立したコホートにおいて拡張型心筋症の全ゲノム関連シグナルにも富んでいることを見出した。【結論】RNA転写,スプライシング,および対立遺伝子特異的発現は,拡張型心筋症表現型の各重要な決定因子であり,遺伝的因子によって制御される。結果は,心血管遺伝学の分野に対する強力な資源を示す。Copyright 2018 The Author(s). All rights reserved. Translated from English into Japanese by JST.【JST・京大機械翻訳】

シソーラス用語： 対立遺伝子 ,  *患者 ,  RNA【核酸】 ,  *トランスクリプトーム ,  表現型 ,  *心臓 ,  *遺伝 ,  遺伝子発現 ,  遺伝学 ,  *拡張型心筋症 ,  母集団 ,  ゲノム ,  ヒト ,  *変異
準シソーラス用語： アイソフォーム , 【Automatic Indexing@JST】

著者キーワード (5件)： 遺伝学 ,  遺伝子発現 ,  EQTL ,  拡張型心筋症 ,  心臓

分類 (3件)： 循環系の基礎医学  (GJ01020K) ,  心臓  (EJ04020D) ,  遺伝子発現  (EC02040Q)

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タイトルに関連する用語 (7件)： 疾患 ,  ドナー ,  拡張型心筋症 ,  患者 ,  心臓 ,  トランスクリプトーム ,  遺伝的変異