文献

J-GLOBAL ID：201902292146372980   整理番号：19A1180895

BNC2の稀な変異体は常染色体優性先天性下部尿路閉塞に関与する【JST・京大機械翻訳】

Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction

著者 (52件)： Kolvenbach Caroline M. (Department of Pediatrics, Children’s Hospital, University Hospital Bonn, 53113 Bonn, Germany) ,  Kolvenbach Caroline M. (Institute of Anatomy, University of Bonn, 53115 Bonn, Germany) ,  Kolvenbach Caroline M. (Division of Nephrology, Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, MA 02115, United States) ,  Dworschak Gabriel C. (Department of Pediatrics, Children’s Hospital, University Hospital Bonn, 53113 Bonn, Germany) ,  Dworschak Gabriel C. (Institute of Anatomy, University of Bonn, 53115 Bonn, Germany) ,  Dworschak Gabriel C. (Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany) ,  Frese Sandra (Department of Pediatrics, Children’s Hospital, University Hospital Bonn, 53113 Bonn, Germany) ,  Frese Sandra (Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany) ,  Japp Anna S. (Institute of Neuropathology, University of Bonn Medical Center, 53127 Bonn, Germany) ,  Schuster Peggy (Institute of Cardiovascular Regeneration, Center for Molecular Medicine, Goethe University, 60439 Frankfurt am Main, Germany) ,  Wenzlitschke Nina (Institute of Cardiovascular Regeneration, Center for Molecular Medicine, Goethe University, 60439 Frankfurt am Main, Germany) ,  Yilmaz OEznur (Institute of Anatomy, University of Bonn, 53115 Bonn, Germany) ,  Lopes Filipa M. (Division of Cell Matrix and Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester Academic Health Science Centere, Manchester M13 9PT, United Kingdom) ,  Pryalukhin Alexey (Institute of Pathology, University Hospital Bonn, 53127 Bonn, Germany) ,  Schierbaum Luca (Department of Pediatrics, Children’s Hospital, University Hospital Bonn, 53113 Bonn, Germany) ,  Schierbaum Luca (Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany) ,  van der Zanden Loes F.M. (Radboud Institute for Health Sciences, Department for Health Evidence, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands) ,  Kause Franziska (Department of Pediatrics, Children’s Hospital, University Hospital Bonn, 53113 Bonn, Germany) ,  Kause Franziska (Division of Nephrology, Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, MA 02115, United States) ,  Schneider Ronen (Division of Nephrology, Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, MA 02115, United States) ,  Taranta-Janusz Katarzyna (Department of Pediatrics and Nephrology, Medical University of Bialystok, 15-089 Bialystok, Poland) ,  Szczepanska Maria (Department and Clinics of Pediatrics, School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia in Katowice, 40-055 Zabrze, Poland) ,  Pawlaczyk Krzysztof (Department of Nephrology, Transplantology, and Internal Medicine, Poznan University of Medical Sciences, 61-701 Poznan, Poland) ,  Newman William G. (Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester M13 9PT, United Kingdom) ,  Beaman Glenda M. (Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester M13 9PT, United Kingdom) ,  Stuart Helen M. (Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester M13 9PT, United Kingdom) ,  Cervellione Raimondo M. (Paediatric Urology, Royal Manchester Children’s Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester M13 9WL, United Kingdom) ,  Feitz Wouter F.J. (Department of Urology, Pediatric Urology, Radboudumc Amalia Children’s Hospital, 6525 GA Nijmegen, the Netherlands) ,  van Rooij Iris A.L.M. (Radboud Institute for Health Sciences, Department for Health Evidence, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands) ,  van Rooij Iris A.L.M. (Department of Surgery-Pediatric Surgery, Radboudumc Amalia Children’s Hospital, 6525 GA Nijmegen, the Netherlands) ,  Schreuder Michiel F. (Department of Pediatric Nephrology, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Amalia Children’s Hospital, 6525 GA Nijmegen, the Netherlands) ,  Steffens Martijn (Department of Urology, Isala, 8025 AB Zwolle, the Netherlands) ,  Weber Stefanie (Department of Pediatrics, University Hospital Marburg, 35037 Marburg, Germany) ,  Merz Waltraut M. (Department of Obstetrics and Prenatal Medicine, University of Bonn, 53127 Bonn, Germany) ,  Feldkotter Markus (Division of Pediatric Nephrology, Department of Pediatrics, University Hospital Bonn, 53129 Bonn, Germany) ,  Hoppe Bernd (Division of Pediatric Nephrology, Department of Pediatrics, University Hospital Bonn, 53129 Bonn, Germany) ,  Thiele Holger (Cologne Center for Genomics, University of Cologne, 50391 Cologne, Germany) ,  Altmueller Janine (Cologne Center for Genomics, University of Cologne, 50391 Cologne, Germany) ,  Altmueller Janine (Center for Molecular Medicine Cologne, University of Cologne, 50391 Cologne, Germany) ,  Berg Christoph (Department of Obstetrics and Prenatal Medicine, University of Bonn, 53127 Bonn, Germany) ,  Kristiansen Glen (Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester M13 9PT, United Kingdom) ,  Ludwig Michael (Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, 53127 Bonn, Germany) ,  Reutter Heiko (Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany) ,  Reutter Heiko (Department of Neonatology and Pediatric Intensive Care, Children’s Hospital, University of Bonn, 53127 Bonn, Germany) ,  Woolf Adrian S. (Division of Cell Matrix and Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester Academic Health Science Centere, Manchester M13 9PT, United Kingdom) ,  Hildebrandt Friedhelm (Division of Nephrology, Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, MA 02115, United States) ,  Grote Phillip (Institute of Cardiovascular Regeneration, Center for Molecular Medicine, Goethe University, 60439 Frankfurt am Main, Germany) ,  Zaniew Marcin (Department of Pediatrics, University of Zielona Gora, 56-417 Zielona Gora, Poland) ,  Odermatt Benjamin (Institute of Anatomy, University of Bonn, 53115 Bonn, Germany) ,  Odermatt Benjamin (Institute of Neuro-Anatomy, University of Bonn, 53115 Bonn, Germany) ,  Hilger Alina C. (Department of Pediatrics, Children’s Hospital, University Hospital Bonn, 53113 Bonn, Germany) ,  Hilger Alina C. (Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany)
資料名： American Journal of Human Genetics  (American Journal of Human Genetics)
巻： 104  号： 5  ページ： 994-1006  発行年： 2019年 
JST資料番号： B0360B  ISSN： 0002-9297  資料種別： 逐次刊行物 (A)
記事区分： 短報  発行国： オランダ (NLD)  言語： 英語 (EN)

抄録/ポイント： 先天性下部尿路閉塞(LUTO)は,膀胱流出路の解剖学的閉塞または尿排尿の機能障害により引き起こされる。1万人の妊娠のうち約3人が影響を受けた。機能的閉塞のいくつかの単原性原因が定義されているが,解剖学的遮断によって引き起こされた先天性LUTOが単遺伝子性原因を有するかどうかは不明である。尿道の解剖学的遮断を有する4人の影響を受けた個人の家族におけるエキソソーム配列決定は,BNC2における稀なナンセンス変異体(c.2557C>T[p.Arg853*])を同定し,3世代にわたりLUTOを追跡した。LUTOを有する697個体の再配列化BNC2は,3つの無関係な家族において3つのさらなる独立したミスセンス変異体を明らかにした。ヒトとマウスの胚発生において,バボヌクリン2は下部尿路rudiで検出された。ゼブラフィッシュ胚において,Bnc2は,哺乳類下部尿路の類似体である前腎管とクロacaで発現された。ゼブラフィッシュにおけるBnc2の実験的ノックダウンにより,ヒト先天性LUTOを表現する前腎-出口閉塞およびクロラール拡張が生じた。まとめると,これらの結果は,BNC2における変異体が解剖学的遮断の結果としてLUTO病因に強く関与しているという結論を支持する。Copyright 2019 Elsevier B.V., Amsterdam. All rights reserved. Translated from English into Japanese by JST.【JST・京大機械翻訳】

シソーラス用語： 解剖学 ,  *常染色体 ,  *優性 ,  泌尿 ,  遺伝子 ,  機能障害 ,  病因 ,  ヒト ,  マウス ,  ゼブラフィッシュ ,  ナンセンス突然変異 ,  膀胱 ,  脂肪族アルデヒド ,  脂肪族塩素化合物
準シソーラス用語： エキソソーム ,  遮断 , 【Automatic Indexing@JST】

著者キーワード (10件)： 下部尿路閉塞 ,  LUTO ,  後部尿道弁 ,  Basonubin2 ,  BNC2 ,  ゼブラフィッシュ ,  機能遺伝学 ,  前腎発生 ,  Cloacae ,  遠位前腎出口閉塞

分類 (4件)： 分子遺伝学一般  (EC02010J) ,  神経の基礎医学  (GN01020W) ,  先天性疾患・奇形一般  (GD03010V) ,  発生と分化  (EJ16020W)

物質索引 (1件)： クロラール

タイトルに関連する用語 (4件)： 変異体 ,  常染色体 ,  優性 ,  下部尿路閉塞