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J-GLOBAL ID：201802255107098071   Reference number：18A1814424

Complex aberrant splicing in the induced pluripotent stem cell-derived cardiomyocytes from a patient with long QT syndrome carrying KCNQ1-A344Aspl mutation

KCNQ1-A334AspL変異を有するQT延長症候群患者由来の人工多能性幹細胞由来心筋細胞における複合異常スプライシング【JST・京大機械翻訳】

Author (21)： Wuriyanghai Yimin (Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, Seta-Tsukinowa-cho, Otsu, Japan) ,  Wuriyanghai Yimin (Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Shogoin, Sakyo-ku, Kyoto, Japan) ,  Makiyama Takeru (Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Shogoin, Sakyo-ku, Kyoto, Japan) ,  Sasaki Kenichi (Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Shogoin, Sakyo-ku, Kyoto, Japan) ,  Kamakura Tsukasa (Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Shogoin, Sakyo-ku, Kyoto, Japan) ,  Yamamoto Yuta (Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Shogoin, Sakyo-ku, Kyoto, Japan) ,  Hayano Mamoru (Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Shogoin, Sakyo-ku, Kyoto, Japan) ,  Harita Takeshi (Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Shogoin, Sakyo-ku, Kyoto, Japan) ,  Nishiuchi Suguru (Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Shogoin, Sakyo-ku, Kyoto, Japan) ,  Chen Jiarong (Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Shogoin, Sakyo-ku, Kyoto, Japan) ,  Kohjitani Hirohiko (Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Shogoin, Sakyo-ku, Kyoto, Japan) ,  Hirose Sayako (Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Shogoin, Sakyo-ku, Kyoto, Japan) ,  Yokoi Fumika (Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Shogoin, Sakyo-ku, Kyoto, Japan) ,  Gao Jingshan (Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Shogoin, Sakyo-ku, Kyoto, Japan) ,  Chonabayashi Kazuhisa (Center for iPS Cell Research and Application, Institute for Integrated Cell-Material Sciences, Kyoto University, Shogoin, Sakyo-ku, Kyoto, Japan) ,  Watanabe Ken (Department of Pediatrics, Tazuke Kofukai Foundation, Medical Research Institute, Kitano Hospital, Ohgimachi, Kita-ku, Osaka, Japan) ,  Ohno Seiko (Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, Seta-Tsukinowa-cho, Otsu, Japan) ,  Ohno Seiko (Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center, Fujishiro-dai, Suita, Osaka, Japan) ,  Yoshida Yoshinori (Center for iPS Cell Research and Application, Institute for Integrated Cell-Material Sciences, Kyoto University, Shogoin, Sakyo-ku, Kyoto, Japan) ,  Kimura Takeshi (Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Shogoin, Sakyo-ku, Kyoto, Japan) ,  Horie Minoru (Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, Seta-Tsukinowa-cho, Otsu, Japan)
Material： Heart Rhythm
Volume： 15  Issue： 10  Page： 1566-1574  Publication year： 2018 
JST Material Number： W3164A  ISSN： 1547-5271  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Abstract/Point： Long QT syndrome type 1 (LQT1)...

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Thesaurus term： channel ,  *variation(biology) ,  mutation ,  *cardiac myocyte ,  lymphocyte ,  genotype ,  mRNA ,  therapy ,  *induced pluripotent stem cell ,  electric potential ,  human(primates) ,  rectification(electric) ,  duration time ,  *patient ,  catecholamine ,  aminoalcohol ,  secondary amine ,  secondary alcohol

Author keywords (5)： Aberrant splicing ,  I_Ks activator ,  Induced pluripotent stem cell ,  KCNQ1 ,  Long QT syndrome

JST classification (1)： Basic medicine on cardiovascular system  (GJ01020K)

Substance index (1)： Isoproterenol

Terms in the title (7)： KCNQ1 ,  変異 ,  QT延長症候群 ,  患者 ,  人工多能性幹細胞 ,  心筋細胞 ,  スプライシング