文献

J-GLOBAL ID：201802237341646331   整理番号：18A0927073

LDS関連遺伝子TGFB2/3とSmad2/3に関する突然変異更新【JST・京大機械翻訳】

A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3

著者 (48件)： Schepers Dorien (Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium) ,  Tortora Giada (Medical Genetics Unit, Department of Medical and Surgical Sciences, University of Bologna, Policlinico Sant’Orsola-Malpighi, Bologna, Italy) ,  Tortora Giada (Department of Molecular and Clinical Sciences, Marche Polytechnic University, Ancona, Italy) ,  Morisaki Hiroko (Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Suita, Osaka, Japan) ,  Morisaki Hiroko (Department of Molecular Pathophysiology, Osaka University Graduate School of Pharmaceutical Sciences, Suita, Osaka, Japan) ,  Morisaki Hiroko (Department of Medical Genetics, Sakakibara Heart Institute, Tokyo, Japan) ,  MacCarrick Gretchen (McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland) ,  Lindsay Mark (Thoracic Aortic Center, Departments of Medicine and Pediatrics, Massachusetts General Hospital, Harvard Medical School, Boston) ,  Liang David (Cardiovascular Medicine, Stanford University Medical Center, Stanford, California) ,  Mehta Sarju G. (East Anglian Regional Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Addenbrooke’s Hospital, Cambridge, UK) ,  Hague Jennifer (East Anglian Regional Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Addenbrooke’s Hospital, Cambridge, UK) ,  Verhagen Judith (Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands) ,  van de Laar Ingrid (Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands) ,  Wessels Marja (Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands) ,  Detisch Yvonne (Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands) ,  van Haelst Mieke (Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands) ,  van Haelst Mieke (Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands) ,  Baas Annette (Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands) ,  Lichtenbelt Klaske (Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands) ,  Braun Kees (Department of Child Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands) ,  van der Linde Denise (Department of Cardiology, Erasmus Medical Center, Rotterdam, The Netherlands) ,  Roos-Hesselink Jolien (Department of Cardiology, Erasmus Medical Center, Rotterdam, The Netherlands) ,  McGillivray George (Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Melbourne, Australia) ,  Meester Josephina (Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium) ,  Maystadt Isabelle (Centre de Genetique Humaine, Institut de Pathologie et de Genetique (IPG), Gosselies (Charleroi), Belgium) ,  Coucke Paul (Center for Medical Genetics, Ghent University Hospital and Ghent University, Ghent, Belgium) ,  El-Khoury Elie (Department of Diagnostic Cardiology, Clinique St Luc, Bouge (Namur), Belgium) ,  Parkash Sandhya (Department of Pediatrics, Maritime Medical Genetics Service, IWK Health Centre, Dalhousie University, Halifax, Nova Scotia, Canada) ,  Diness Birgitte (Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark) ,  Risom Lotte (Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark) ,  Scurr Ingrid (Department of Clinical Genetics, St. Michael’s Hospital, Bristol, UK) ,  Hilhorst-Hofstee Yvonne (Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands) ,  Morisaki Takayuki (Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Suita, Osaka, Japan) ,  Morisaki Takayuki (Department of Molecular Pathophysiology, Osaka University Graduate School of Pharmaceutical Sciences, Suita, Osaka, Japan) ,  Richer Julie (Department of Medical Genetics, Children’s Hospital of Eastern Ontario, Children’s Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada) ,  Desir Julie (Centre de Genetique Humaine, Hopital Erasme, Universite Libre de Bruxelles, Belgium) ,  Kempers Marlies (Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands) ,  Rideout Andrea L. (Maritime Medical Genetics Service, IWK Health Centre, Halifax, Nova Scotia, Canada) ,  Horne Gabrielle (Department of Medicine (Cardiology) and School of Biomedical Engineering, Dalhousie University, Halifax, Nova Scotia, Canada) ,  Bennett Chris (Department of Clinical Genetics, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK) ,  Rahikkala Elisa (Department of Clinical Genetics, Oulu University Hospital, University of Oulu, Oulu, Finland) ,  Vandeweyer Geert (Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium) ,  Alaerts Maaike (Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium) ,  Verstraeten Aline (Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium) ,  Dietz Hal (McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland) ,  Van Laer Lut (Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium) ,  Loeys Bart (Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium) ,  Loeys Bart (Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands)
資料名： Human Mutation  (Human Mutation)
巻： 39  号： 5  ページ： 621-634  発行年： 2018年 
JST資料番号： W2601A  ISSN： 1059-7794  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： アメリカ合衆国 (USA)  言語： 英語 (EN)

抄録/ポイント： Loeys-Dietz症候群(LDS)は,心血管系,骨格系,および眼系に影響を及ぼす結合組織障害である。最も典型的には,LDS患者は大動脈瘤と動脈蛇行,多te症,および多胎/広い外陰部または口蓋裂を呈する。最初に,形質転換成長因子-β(TGF-β)受容体(TGF-BR1およびTGF-BR2)の突然変異がLDSを引き起こすことが示され,これによりTGF-βシグナル伝達の障害が生じた。より最近,TGF-βリガンド,TGF2およびTGF3,ならびにTGF-β経路の細胞内下流エフェクター,SMAD2およびSMAD3がLDSに関与していることが示された。これは,LDS病因におけるTGF-βシグナル伝達の撹乱の役割を強調する。これまでの多くの文献はTGFBR1/2に焦点を当てているので,著者らは既知およびいくつかの新しいTGF2/3およびSMAD2/3突然変異に関する包括的レビューを提供する。TGFB2とSMAD3については,文献で以前に報告された患者と著者らの新たに報告された患者の両方の臨床症状を詳細にまとめた。これは,LDSが,より多くの患者が同定されるようにまだ出現している広い表現型スペクトルを有する障害に関係することを明確に示している。ここで記述した全ての突然変異は,対応するLeiden Open Variantデータベースに存在する。Copyright 2018 Wiley Publishing Japan K.K. All Rights reserved. Translated from English into Japanese by JST.【JST・京大機械翻訳】

シソーラス用語： TGFβ ,  受容体 ,  *遺伝子 ,  口蓋裂 ,  患者 ,  動脈 ,  病因 ,  データベース ,  *突然変異 ,  結合組織病 ,  エフェクタ ,  表現型 ,  大動脈瘤
準シソーラス用語： リガンド ,  TGF-βシグナル伝達 , 【Automatic Indexing@JST】

著者キーワード (6件)： 動脈瘤 ,  Loeys-Dietz症候群 ,  Smad2 ,  Smad3 ,  TGF2 ,  TGF3

分類 (2件)： 先天性疾患・奇形一般  (GD03010V) ,  遺伝的変異  (EC01030Y)

タイトルに関連する用語 (5件)： LDS ,  遺伝子 ,  Smad2 ,  突然変異 ,  更新