Art

J-GLOBAL ID：201602246951633792   Reference number：16A1169224

Characterization of the novel mutant A78T-HERG from a long QT syndrome type 2 patient: Instability of the mutant protein and stabilization by heat shock factor 1

QT延長症候群2型患者のA78T-HERG新規突然変異の解析:突然変異蛋白質の不安定性と熱ショック因子1による安定化

Author (22)： Kondo Takehito (Division of Cardiovascular Medicine, Department of Molecular Medicine and Therapeutics, Faculty of Medicine, Tottori University, Japan) ,  Hisatome Ichiro (Division of Regenerative Medicine and Therapeutics, Tottori University Graduate School of Medical Science, Japan) ,  Yoshimura Shouichi (Division of Regenerative Medicine and Therapeutics, Tottori University Graduate School of Medical Science, Japan) ,  Mahati Endang (Division of Regenerative Medicine and Therapeutics, Tottori University Graduate School of Medical Science, Japan) ,  Notsu Tomomi (Division of Regenerative Medicine and Therapeutics, Tottori University Graduate School of Medical Science, Japan) ,  Li Peili (Division of Regenerative Medicine and Therapeutics, Tottori University Graduate School of Medical Science, Japan) ,  Iitsuka Kazuhiko (Division of Cardiovascular Medicine, Department of Molecular Medicine and Therapeutics, Faculty of Medicine, Tottori University, Japan) ,  Kato Masaru (Division of Cardiovascular Medicine, Department of Molecular Medicine and Therapeutics, Faculty of Medicine, Tottori University, Japan) ,  Ogura Kazuyoshi (Division of Cardiovascular Medicine, Department of Molecular Medicine and Therapeutics, Faculty of Medicine, Tottori University, Japan) ,  Miake Junichiro (Division of Cardiovascular Medicine, Department of Molecular Medicine and Therapeutics, Faculty of Medicine, Tottori University, Japan) ,  Aiba Takeshi (Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center, Japan) ,  Shimizu Wataru (Division of Cardiology and Regenerative Medicine, Nippon Medical School, Japan) ,  Kurata Yasutaka (Department of Physiology II, Kanazawa Medical University, Japan) ,  Sakata Shinji (Department of Pediatrics, Faculty of Medicine, Tottori University, Japan) ,  Nakasone Naoe (Department of Biological Regulation, Faculty of Medicine, Tottori University, Japan) ,  Ninomiya Haruaki (Department of Biological Regulation, Faculty of Medicine, Tottori University, Japan) ,  Nakai Akira (Department of Biochemistry and Molecular Biology, Yamaguchi University School of Medicine, Japan) ,  Higaki Katsumi (Division of Functional Genomics, Research Center for Bioscience and Technology, Tottori University, Japan) ,  Kawata Yasushi (Department of Chemistry and Biotechnology, Graduate School of Engineering, Tottori University, Japan) ,  Shirayoshi Yasuaki (Division of Regenerative Medicine and Therapeutics, Tottori University Graduate School of Medical Science, Japan) ,  Yoshida Akio (Division of Regenerative Medicine and Therapeutics, Tottori University Graduate School of Medical Science, Japan) ,  Yamamoto Kazuhiro (Division of Cardiovascular Medicine, Department of Molecular Medicine and Therapeutics, Faculty of Medicine, Tottori University, Japan)
Material： Journal of Arrhythmia (Web)
Volume： 32  Issue： 5  Page： 433-440  Publication year： Oct. 2016 
JST Material Number： U1150A  ISSN： 1880-4276  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Thesaurus term： *arrhythmia ,...
Semi thesaurus term： *genetic variation ,...

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Author keywords (3)： Long QT syndrome ,  Human ether-a-go-go-related gene ,  Heat shock factor

JST classification (2)： Basic medicine on cardiovascular system  (GJ01020K) ,  Molecular genetics in general  (EC02010J)

Reference (22)：

• Mizusawa, Y., Horie, M., Wilde, A.A. Genetic and clinical advances in congenital long QT syndrome. Circ J. 2014;78:2827-33.
• Nakano, Y., Shimizu, W. Genetics of long-QT syndrome. J Hum Genet. 2015; http://dx.doi.org/10.1038/jhg.2015.74 [Epub ahead of print].
• Nakajima, T., Kaneko, Y., Kurabayashi, M. Unveiling specific triggers and precipitating factors for fatal cardiac events in inherited arrhythmia syndromes. Circ J. 2015;79:1185-92.
• Robin, N.H., Tabereaux, P.B., Benza, R. et al, Genetic testing in cardiovascular disease. J Am Coll Cardiol. 2007;50:727-37.
• Sanguinetti, M.C., Tristani-Firouzi, M. hERG potassium channels and cardiac arrhythmia. Nature. 2006;440:463-9.

Terms in the title (9)： QT延長症候群 ,  患者 ,  HERG ,  突然変異 ,  解析 ,  突然変異蛋白質 ,  不安定性 ,  熱ショック因子1 ,  安定化