The association of two benign polymorphisms H558R and Q1077 on SCN5A gene leads to a loss of Na+ channel function and cause Brugada syndrome

被引：0
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作者：
Acharfi, S
Barrane, F
Champagne, J
Chahine, M
机构：
[1] Laval Hosp, Res Dept, St Foy, PQ, Canada
[2] Univ Laval, Dept Med, St Foy, PQ G1K 7P4, Canada
来源：
EUROPEAN HEART JOURNAL | 2004年 / 25卷
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中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
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页码：141 / 141
页数：1
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  • [1] Gene therapy using fragments of the SCN5A H558R polymorphism restores function of a brugada syndrome mutation
    Dudash, Lynn
    Poelzing, Steven
    Deschenes, Isabelle
    [J]. CIRCULATION, 2006, 114 (18) : 126 - 126
  • [2] A Common SCN5A Polymorphism H558R Modifies Clinical Phenotype of Brugada Syndrome by Modulating DNA Methylation of SCN5A Promoters
    Matsumura, Hiroya
    Nakano, Yukiko
    Sairaku, Akinori
    Tokuyama, Takehito
    Tomomori, Shunsuke
    Amioka, Michitaka
    Hironobe, Naoya
    Kihara, Yasuki
    [J]. CIRCULATION, 2016, 134
  • [3] H558R, a common SCN5A polymorphism, modifies the clinical phenotype of Brugada syndrome by modulating DNA methylation of SCN5A promoters
    Hiroya Matsumura
    Yukiko Nakano
    Hidenori Ochi
    Yuko Onohara
    Akinori Sairaku
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    Shunsuke Tomomori
    Chikaaki Motoda
    Michitaka Amioka
    Naoya Hironobe
    Masaaki Toshishige
    Shinya Takahashi
    Katsuhiko Imai
    Taijiro Sueda
    Kazuaki Chayama
    Yasuki Kihara
    [J]. Journal of Biomedical Science, 24
  • [4] H558R, a common SCN5A polymorphism, modifies the clinical phenotype of Brugada syndrome by modulating DNA methylation of SCN5A promoters
    Matsumura, Hiroya
    Nakano, Yukiko
    Ochi, Hidenori
    Onohara, Yuko
    Sairaku, Akinori
    Tokuyama, Takehito
    Tomomori, Shunsuke
    Motoda, Chikaaki
    Amioka, Michitaka
    Hironobe, Naoya
    Toshishige, Masaaki
    Takahashi, Shinya
    Imai, Katsuhiko
    Sueda, Taijiro
    Chayama, Kazuaki
    Kihara, Yasuki
    [J]. JOURNAL OF BIOMEDICAL SCIENCE, 2017, 24
  • [5] A Common SCN5A Polymorphism H558R Modifies Clinical Phenotype of Brugada Syndrome by Modulating DNA Methylation of SCN5A Promoters
    Matsumura, Hiroya
    Nakano, Yukiko
    Sairaku, Akinori
    Tokuyama, Takehito
    Tomomori, Shunsuke
    Amioka, Michitaka
    Hironobe, Naoya
    Kihara, Yasuki
    [J]. CIRCULATION, 2016, 134
  • [6] An Investigation of the Association of the H558R Polymorphism of the SCN5A Gene with Idiopathic Cardiac Conduction Disorders
    Nikulina, Svetlana Y.
    Chernova, Anna A.
    Shulman, Vladimir A.
    Maksimov, Vladimir N.
    Gavrilyuk, Oksana A.
    Tretyakova, Svetlana S.
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    [J]. GENETIC TESTING AND MOLECULAR BIOMARKERS, 2015, 19 (06) : 288 - 294
  • [7] Polymorphism H558R in the Human Cardiac Sodium Channel SCN5A Gene is Associated with Atrial Fibrillation
    Chen, L.
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    Fang, C.
    Jiang, S.
    Shu, C.
    Cheng, H.
    Li, F.
    Li, H.
    [J]. JOURNAL OF INTERNATIONAL MEDICAL RESEARCH, 2011, 39 (05) : 1908 - 1916
  • [8] SCN5A (H558R) gene mutation is associated with appropriate shock therapy in Thai Brugada syndrome patients receiving AICD treatment
    Makarawate, P.
    Chaosuwannakit, N.
    Vannaprasaht, S.
    Sawanyawisuth, K.
    Hwee, K. Seok
    Lee, E. Deoon
    Tassaneeyakul, W.
    [J]. EUROPEAN HEART JOURNAL, 2013, 34 : 424 - 424
  • [9] Association between the SCN5A gene H558R polymorphism and atrial fibrillation in the Uygur and Han populations of Xinjiang
    Shadeke, Yeerkenbieke
    Wulasihan, Muhuyati
    Liu, Zhiqiang
    Yang, Yuchun
    He, Pengyi
    [J]. INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL MEDICINE, 2016, 9 (06): : 11663 - 11668
  • [10] Association between SCN5A gene variant H558R and arrhythmias: a systemic review and meta-analysis
    Feng, Wei
    Chen, Ning
    Zhu, Yi
    [J]. INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL MEDICINE, 2017, 10 (02): : 1989 - +
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