文献

J-GLOBAL ID：201702247329977275   整理番号：17A1910899

Andersen-Tawil症候群:症候性不整脈の臨床的提示および予測因子 KCNH2遺伝子の多形性K897TおよびSCN5A遺伝子のH558Rの可能性のある役割

Andersen-Tawil syndrome: Clinical presentation and predictors of symptomatic arrhythmias - Possible role of polymorphisms K897T in KCNH2 and H558R in SCN5A gene

著者 (14件)： Krych Michalina (Department of Congenital Cardiac Defects, Institute of Cardiology, Warsaw, Poland) ,  Biernacka Elzbieta Katarzyna (Department of Congenital Cardiac Defects, Institute of Cardiology, Warsaw, Poland) ,  Poninska Joanna (Department of Molecular Biology, Institute of Cardiology, Warsaw, Poland) ,  Kukla Piotr (Department of Cardiology and Internal Medicine, Specialistic Hospital, Gorlice, Poland) ,  Filipecki Artur (First Department of Cardiology, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland) ,  Gajda Robert (Medical Centre Gajda-Med, Pultusk, Poland) ,  Hasdemir Can (Department of Cardiology, Ege University School of Medicine, Izmir, Turkey) ,  Antzelevitch Charles (Lankenau Institute for Medical Research, Wynnewood, PA, USA) ,  Kosiec Agnieszka (Department of Molecular Biology, Institute of Cardiology, Warsaw, Poland) ,  Szperl Malgorzata (Department of Molecular Biology, Institute of Cardiology, Warsaw, Poland) ,  Ploski Rafal (Department of Medical Genetics, Warsaw Medical University, Poland) ,  Trusz-Gluza Maria (First Department of Cardiology, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland) ,  Mizia-Stec Katarzyna (First Department of Cardiology, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland) ,  Hoffman Piotr (Department of Congenital Cardiac Defects, Institute of Cardiology, Warsaw, Poland)
資料名： Journal of Cardiology  (Journal of Cardiology)
巻： 70  号： 5  ページ： 504-510  発行年： 2017年11月 
JST資料番号： W2218A  ISSN： 0914-5087  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： イギリス (GBR)  言語： 英語 (EN)

抄録/ポイント： 背景:Andersen-Tawil症候群(ATS)は,KCN...

シソーラス用語： *不整脈 ,...
準シソーラス用語： *Andersen-Tawil症候群 ,...

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著者キーワード (4件)： Andersen-Tawil症候群 ,  QT延長症候群 ,  Arrhythmia ,  K897T多型

分類 (2件)： 循環系の疾患  (GJ03000C) ,  先天性疾患・奇形一般  (GD03010V)

引用文献 (20件)：

• Andersen, E.D., Krassilnikoff, P.A., Overvad, H. Intermittent muscular weakness, extrasystoles, and multiple developmental anomalies. Acta Paediatr. 1971;60:559-64.
• Tawil, R., Ptacek, L.J., Pavlakis, S.G., DeVivo, D.C., Penn, A.S., Ozdemir, C., Griggs, R.C. Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features. Ann Neurol. 1994;35:326-30.
• Plaster, N.M., Tawil, R., Tristani-Firouzi, M., Canún, S., Bendahhou, S., Tsunoda, A., Donaldson, M.R., Iannaccone, S.T., Brunt, E., Barohn, R., Clark, J., Deymeer, F., George, A.L. Jr., Fish, F.A., Hahn, A. et al, Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's Syndrome. Cell. 2001;105:511-9.
• Andelfinger, G., Tapper, A.R., Welch, R.C., Vanoye, C.G., George, A.L., Benson, D.W. KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes. Am J Hum Genet. 2002;71:663-8.
• Kokunai, Y., Nakata, T., Furuta, M., Sakata, S., Kimura, H., Aiba, T., Yoshinaga, M., Osaki, Y., Nakamori, M., Itoh, H., Sato, T., Kubota, T., Kadota, K., Shindo, K., Mochizuki, H. et al, A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1. Neurology. 2014;82:1058-64.

タイトルに関連する用語 (10件)： 症候群 ,  症候 ,  不整脈 ,  臨床 ,  予測因子 ,  KCNH2遺伝子 ,  多形性 ,  SCN5A遺伝子 ,  可能性 ,  役割