Art

J-GLOBAL ID：201702281122950610   Reference number：17A0617071

A novel mutation in TAZ causes mitochondrial respiratory chain disorder without cardiomyopathy

TAZの新規突然変異は心筋症を伴わないミトコンドリア呼吸鎖障害の原因になる

Author (14)： BORNA Nurun N (Saitama Medical Univ., Saitama, JPN) ,  KISHITA Yoshihito (Saitama Medical Univ., Saitama, JPN) ,  ISHIKAWA Kaori (Univ. Tsukuba, Tsukuba, JPN) ,  NAKADA Kazuto (Univ. Tsukuba, Tsukuba, JPN) ,  HAYASHI Jun-Ichi (Univ. Tsukuba, Tsukuba, JPN) ,  TOKUZAWA Yoshimi (Saitama Medical Univ., Saitama, JPN) ,  KOHDA Masakazu (Saitama Medical Univ., Saitama, JPN) ,  NYUZUKI Hiromi (Saitama Medical Univ., Saitama, JPN) ,  YAMASHITA-SUGAHARA Yzumi (Saitama Medical Univ., Saitama, JPN) ,  NASU Takashi (Obihiro Kosei General Hospital, Obihiro, JPN) ,  TAKEDA Atsuhito (Hokkaido Univ. Graduate School of Medicine, Hokkaido, JPN) ,  MURAYAMA Kei (Chiba Children’s Hospital, Chiba, JPN) ,  OHTAKE Akira (Saitama Medical Univ., Saitama, JPN) ,  OKAZAKI Yasushi (Saitama Medical Univ., Saitama, JPN)
Material： Journal of Human Genetics  (J Hum Genet)
Volume： 62  Issue： 5  Page： 539-547  Publication year： May. 2017 
JST Material Number： Z0756A  ISSN： 1434-5161  Document type： Article
Article type： 原著論文  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Thesaurus term： human ,...
Semi thesaurus term： *Barth Syndrome ,...

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JST classification (2)： Molecular genetics in general  (EC02010J) ,  Metabolic diseases,nutritional diseases in general.  (GD05010J)

Reference (41)：

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• Gonzalez, I. L. Barth syndrome:TAZ gene mutations, mRNAs, and evolution. Am. J. Med. Genet. Part A 134A, 409-414 (2005).
• Aprikyan, A. A. & Khuchua, Z. Advances in the understanding of Barth syndrome. Br. J. Haematol. 161, 330-338 (2013).
• Sakamoto, O., Ohura, T., Katsushima, Y., Fujiwara, I., Ogawa, E., Miyabayashi, S. et al. A novel intronic mutation of the TAZ (G4.5) gene in a patient with Barth syndrome: creation of a 5′ splice donor site with variant GC consensus and elongation of the upstream exon. Hum. Genet. 109, 559-563 (2001).

Terms in the title (7)： TAZ ,  突然変異 ,  心筋症 ,  ミトコンドリア ,  呼吸鎖 ,  障害 ,  原因