Art

J-GLOBAL ID：201802257676827786   Reference number：18A1389978

A mutation in transcription factor MAFB causes Focal Segmental Glomerulosclerosis with Duane Retraction Syndrome

転写因子MAFBの突然変異はDuane退縮症候群を伴う巣状分節性糸球体硬化症を引き起こす【JST・京大機械翻訳】

Author (29)： Sato Yoshinori (Division of Nephrology, Department of Medicine, Showa University Fujigaoka Hospital, Fujigaoka, Japan) ,  Tsukaguchi Hiroyasu (Second Department of Internal Medicine, Kansai Medical University, Hirakata, Japan) ,  Morita Hiroyuki (Division of Endocrinology and Metabolism, Department of Internal Medicine, Aichi Medical University School of Medicine, Nagakute, Japan) ,  Higasa Koichiro (Center for Genomic Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan) ,  Tran Mai Thi Nhu (Department of Anatomy and Embryology, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan) ,  Hamada Michito (Department of Anatomy and Embryology, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan) ,  Usui Toshiaki (Department of Anatomy and Embryology, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan) ,  Usui Toshiaki (Department of Nephrology, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan) ,  Morito Naoki (Department of Nephrology, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan) ,  Horita Shoichiro (Department of Cell Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan) ,  Hayashi Takao (Department of Ophthalmology, School of Medicine, Teikyo University, Tokyo, Japan) ,  Takagi Junko (Division of Endocrinology and Metabolism, Department of Internal Medicine, Aichi Medical University School of Medicine, Nagakute, Japan) ,  Yamaguchi Izumi (Center for Genomic Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan) ,  Nguyen Huan Thanh (Second Department of Internal Medicine, Kansai Medical University, Hirakata, Japan) ,  Harada Masayo (Department of Clinical Anatomy, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan) ,  Inui Kiyoko (Division of Nephrology, Department of Medicine, Showa University Fujigaoka Hospital, Fujigaoka, Japan) ,  Maruta Yuichi (Division of Nephrology, Department of Medicine, Showa University Fujigaoka Hospital, Fujigaoka, Japan) ,  Inoue Yoshihiko (Division of Nephrology, Department of Medicine, Showa University Fujigaoka Hospital, Fujigaoka, Japan) ,  Koiwa Fumihiko (Division of Nephrology, Department of Medicine, Showa University Fujigaoka Hospital, Fujigaoka, Japan) ,  Sato Hiroshi (Graduate School of Pharmaceutical Sciences, Tohoku University, Sendai, Japan) ,  Matsuda Fumihiko (Center for Genomic Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan) ,  Ayabe Shinya (Experimental Animal Division, RIKEN BioResource Center, Tsukuba, Japan) ,  Mizuno Seiya (Laboratory Animal Resource Center, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan) ,  Sugiyama Fumihiro (Laboratory Animal Resource Center, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan) ,  Takahashi Satoru (Department of Anatomy and Embryology, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan) ,  Takahashi Satoru (Laboratory Animal Resource Center, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan) ,  Takahashi Satoru (International Institute for Integrative Sleep Medicine (WPI-IIIS), University of Tsukuba, Tsukuba, Japan) ,  Takahashi Satoru (Life Science Center of Tsukuba Advanced Research Alliance, University of Tsukuba, Tsukuba, Japan) ,  Yoshimura Ashio (Division of Nephrology, Department of Medicine, Showa University Fujigaoka Hospital, Fujigaoka, Japan)
Material： Kidney International  (Kidney Int)
Volume： 94  Issue： 2  Page： 396-407  Publication year： 2018 
JST Material Number： E0559B  ISSN： 0085-2538  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Abstract/Point： Focal segmental glomeruloscler...

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Thesaurus term： adult (person) ,  pathogenesis ,  neonate ,  monocyte ,  *Mutation ,  culture (biology) ,  Heredity ,  patient ,  genetics ,  interaction ,  immunohistochemistry ,  neuron ,  *transcription factor ,  promoter (genetics) ,  abduction ,  natural science

Author keywords (5)： FSGS ,  kidney development ,  nephrotic syndrome ,  podocyte ,  transcriptional regulation

JST classification (1)： Urogenital diseases  (GM03000L)

Terms in the title (5)： 転写因子 ,  MafB ,  突然変異 ,  Duane退縮症候群 ,  巣状分節性糸球体硬化症