文献

J-GLOBAL ID：202102272687027758   整理番号：21A0020077

原発性線毛ジスキネジアと関連したホモ接合性切断NEK10変異:症例報告【JST・京大機械翻訳】

Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: a case report

著者 (17件)： Mutairi Fuad Al (Medical Genetics Division, Department of Pediatrics, King Abdullah specialized Children’s Hospital, King Abdulaziz Medical City, Riyadh, Saudi Arabia) ,  Mutairi Fuad Al (Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia) ,  Alkhalaf Randa (Medical Genetics Division, Department of Pediatrics, King Abdullah specialized Children’s Hospital, King Abdulaziz Medical City, Riyadh, Saudi Arabia) ,  Alkhorayyef Abdullah (Pulmonary Division, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia) ,  Alroqi Fayhan (Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia) ,  Alroqi Fayhan (Immunology Division, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia) ,  Yusra Alyafee (Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia) ,  Umair Muhammad (Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia) ,  Nouf Fetaini (Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia) ,  Khan Amjad (Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia) ,  Meshael Alharbi (Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia) ,  Hamad Aleidi (Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia) ,  Monira Alaujan (Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia) ,  Asiri Abdulaziz (Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia) ,  Alhamoudi Kheloud M. (Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia) ,  Alfadhel Majid (Medical Genetics Division, Department of Pediatrics, King Abdullah specialized Children’s Hospital, King Abdulaziz Medical City, Riyadh, Saudi Arabia) ,  Alfadhel Majid (Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia)
資料名： BMC Pulmonary Medicine (Web)  (BMC Pulmonary Medicine (Web))
巻： 20  号： 1  ページ： 1-5  発行年： 2020年 
JST資料番号： U7449A  ISSN： 1471-2466  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： 原発性Ciliary Dyskinsia(PCD)は,また,小児の呼吸器系における粘液保持につながる,毛様体機能の常染色体劣性障害であるimmoile-繊毛症候群として知られている。この壊滅的障害の病態生理学的側面における我々の知識は,遺伝的および分子的試験の進歩に伴って増加している。ここでは,PCDの古典的臨床的および放射線学的提示を有する2人の siblingを報告する。全エキソーム配列決定を用いて,ホモ接合切断変異体を同定した(c.3402T>A);NEK10遺伝子のp.(Tyr1134*)。ウェスタンブロット分析は,患者細胞におけるNEK10蛋白質の発現の減少を明らかにした。NEK10は繊毛集合の有糸分裂後過程に中心的な役割を果たし,生理的および病理学的状態の間に繊毛長および機能を調節する。本研究は,高度に不均一な障害に対する疾患原因変異体の同定の課題を明らかにし,最近PCDと関連するNEK10における新規変異体の同定について報告する。Copyright 2021 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： 遺伝 ,  遺伝子 ,  呼吸器 ,  タンパク質 ,  有糸分裂 ,  繊毛 ,  子供 ,  粘液 ,  劣性 ,  放射線医学 ,  常染色体 ,  ナンセンス突然変異 ,  *症例報告 ,  ウェスタンブロット法
準シソーラス用語： エクソーム , 【Automatic Indexing@JST】

著者キーワード (6件)： NEK10 ,  不動繊毛症候群 ,  ホモ接合ナンセンス変異体 ,  呼吸問題 ,  遺伝子検査 ,  原発性線毛運動障害

分類 (3件)： 先天性疾患・奇形一般  (GD03010V) ,  分子遺伝学一般  (EC02010J) ,  遺伝的変異  (EC01030Y)

引用文献 (28件)：

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• Front Pediatr; Primary Ciliary dyskinesia: an update on clinical aspects, genetics, diagnosis, and future treatment strategies; V Mirra, C Werner, F Santamaria; 5; 2017; 135; citation_id=CR2
• Eur Respir J; Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children; A Barbato, T Frischer, CE Kuehni, D Snijders, I Azevedo, G Baktai; 34; 6; 2009; 1264-1276; citation_id=CR3
• Eur Respir J; The international primary ciliary dyskinesia cohort (iPCD Cohort): methods and first results; M Goutaki, E Maurer, FS Halbeisen, I Amirav, A Barbato, L Behan; 49; 1; 2017; 1601181; citation_id=CR4
• Thorax.; High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations; A Shoemark, E Moya, RA Hirst, MP Patel, EA Robson, J Hayward; 73; 2; 2018; 157-166; citation_id=CR5

タイトルに関連する用語 (4件)： 原発性線毛ジスキネジア ,  ホモ接合性 ,  変異 ,  症例報告