Art

J-GLOBAL ID：201902264572175131   Reference number：19A1836507

Noninvasive diagnosis of TRIT1-related mitochondrial disorder by measuring i⁶A37 and ms²i⁶A37 modifications in tRNAs from blood and urine samples

血液および尿試料からのtRNAにおけるI6A37およびMS2I6A37修飾の測定によるtrit1関連ミトコンドリア障害の非侵襲的診断【JST・京大機械翻訳】

Author (8)： Takenouchi Toshiki (Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan) ,  Wei Fan-Yan (Department of Molecular Physiology, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan) ,  Suzuki Hisato (Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan) ,  Uehara Tomoko (Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan) ,  Takahashi Takao (Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan) ,  Okazaki Yasushi (Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan) ,  Kosaki Kenjiro (Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan) ,  Tomizawa Kazuhito (Department of Molecular Physiology, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan)
Material： American Journal of Medical Genetics. Part A  (Am J Med Genet Part A)
Volume： 179  Issue： 8  Page： 1609-1614  Publication year： 2019 
JST Material Number： E0725C  ISSN： 1552-4825  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Abstract/Point： Subsets of mitochondrial trans...

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Thesaurus term： missense mutation ,  mass spectrometry ,  heterojunction ,  anticonvulsant ,  Anticodon ,  seizure (disease) ,  human ,  peripheral blood ,  gene ,  *RNA ,  subset ,  *tRNA ,  amentia ,  *Mitochondria ,  nervinum ,  central nervous system drug ,  central nervous system depressant
Semi thesaurus term： *非侵襲 ,  *ミトコンドリア機能障害 , 【Automatic Indexing@JST】

JST classification (2)： Gene expression  (EC02040Q) ,  Enzyme in general  (EB09010D)

Terms in the title (7)： 血液 ,  尿 ,  試料 ,  tRNA ,  修飾 ,  ミトコンドリア障害 ,  非侵襲的診断