Literature DB >> 18245395

SCN5A R1193Q polymorphism associated with progressive cardiac conduction defects and long QT syndrome in a Chinese family.

A Sun, L Xu, S Wang, K Wang, W Huang, Y Wang, Y Zou, J Ge.   

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Year:  2008        PMID: 18245395     DOI: 10.1136/jmg.2007.056333

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


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  11 in total

1.  Coexisting mutations/polymorphisms of the long QT syndrome genes in patients with repaired Tetralogy of Fallot are associated with the risks of life-threatening events.

Authors:  Shuenn-Nan Chiu; Mei-Hwan Wu; Ming-Jai Su; Jou-Kou Wang; Ming-Tai Lin; Chien-Chih Chang; Hui-Wen Hsu; Ching-Tsuen Shen; Olivier Thériault; Mohamed Chahine
Journal:  Hum Genet       Date:  2012-03-11       Impact factor: 4.132

Review 2.  Dysfunctional Nav1.5 channels due to SCN5A mutations.

Authors:  Dan Han; Hui Tan; Chaofeng Sun; Guoliang Li
Journal:  Exp Biol Med (Maywood)       Date:  2018-05-27

3.  Differential thermosensitivity in mixed syndrome cardiac sodium channel mutants.

Authors:  Mena Abdelsayed; Colin H Peters; Peter C Ruben
Journal:  J Physiol       Date:  2015-08-12       Impact factor: 5.182

4.  Common Ancestry-Specific Ion Channel Variants Predispose to Drug-Induced Arrhythmias.

Authors:  Yuko Wada; Tao Yang; Christian M Shaffer; Laura L Daniel; Andrew M Glazer; Giovanni E Davogustto; Brandon D Lowery; Eric H Farber-Eger; Quinn S Wells; Dan M Roden
Journal:  Circulation       Date:  2022-01-07       Impact factor: 29.690

5.  Elimination of fatal arrhythmias through ablation of triggering premature ventricular contraction in type 3 long QT syndrome.

Authors:  Zhongwei Cheng; Peng Gao; Kang'an Cheng; Taibo Chen; Hua Deng; Bingxi Chang; Quan Fang
Journal:  Ann Noninvasive Electrocardiol       Date:  2012-08-13       Impact factor: 1.468

6.  Genetic and forensic implications in epilepsy and cardiac arrhythmias: a case series.

Authors:  Sara Partemi; Monica Coll Vidal; Pasquale Striano; Oscar Campuzano; Catarina Allegue; Marianna Pezzella; Maurizio Elia; Pasquale Parisi; Vincenzo Belcastro; Susanna Casellato; Lucio Giordano; Massimo Mastrangelo; Nicola Pietrafusa; Salvatore Striano; Federico Zara; Amedeo Bianchi; Daniela Buti; Angela La Neve; Carlo Alberto Tassinari; Antonio Oliva; Ramon Brugada
Journal:  Int J Legal Med       Date:  2014-08-15       Impact factor: 2.686

7.  Genetic Mechanisms Contribute to the Development of Heart Failure in Patients with Atrioventricular Block and Right Ventricular Apical Pacing.

Authors:  Nana Liu; Min Zheng; Shijie Li; Hui Bai; Zhouying Liu; Cui Hong Hou; Shu Zhang; Jielin Pu
Journal:  Sci Rep       Date:  2017-09-06       Impact factor: 4.379

8.  Prenatal Diagnosis of Atrioventricular Block and QT Interval Prolongation by Fetal Magnetocardiography in a Fetus with Trisomy 18 and SCN5A R1193Q Variant.

Authors:  Lisheng Lin; Miho Takahashi-Igari; Yoshiaki Kato; Yoshihiro Nozaki; Mana Obata; Hiromi Hamada; Hitoshi Horigome
Journal:  Case Rep Pediatr       Date:  2017-05-30

9.  Genetic Analysis of SCN5A in Korean Patients Associated with Atrioventricular Conduction Block.

Authors:  Hyoung Seob Park; Yoon Nyun Kim; Young Soo Lee; Byung Chun Jung; Sang Hee Lee; Dong Gu Shin; Yongkeun Cho; Myung Hwan Bae; Sang Mi Han; Myung Hoon Lee
Journal:  Genomics Inform       Date:  2012-06-30

10.  Reduced Penetrance and Variable Expression of SCN5A Mutations and the Importance of Co-inherited Genetic Variants: Case Report and Review of the Literature.

Authors:  T Robyns; D Nuyens; L Van Casteren; A Corveleyn; T De Ravel; H Heidbuchel; R Willems
Journal:  Indian Pacing Electrophysiol J       Date:  2014-05-25
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