Literature DB >> 15121794

The common SCN5A mutation R1193Q causes LQTS-type electrophysiological alterations of the cardiac sodium channel.

Q Wang1, S Chen, Q Chen, X Wan, J Shen, G A Hoeltge, A A Timur, M T Keating, G E Kirsch.   

Abstract

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Year:  2004        PMID： 15121794      PMCID： PMC1618878          DOI： 10.1136/jmg.2003.013300

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


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  35 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

2.  Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing.

Authors:  David J Tester; Argelia Medeiros-Domingo; Melissa L Will; Carla M Haglund; Michael J Ackerman
Journal:  Mayo Clin Proc       Date:  2012-06       Impact factor: 7.616

3.  Multiple mechanisms underlie increased cardiac late sodium current.

Authors:  Brett M Kroncke; Tao Yang; Dan M Roden
Journal:  Heart Rhythm       Date:  2019-01-21       Impact factor: 6.343

4.  Nav1.5/R1193Q polymorphism is associated with both long QT and Brugada syndromes.

Authors:  H Huang; Juan Zhao; Fatima-Zahra Barrane; Jean Champagne; Mohamed Chahine
Journal:  Can J Cardiol       Date:  2006-03-15       Impact factor: 5.223

5.  UBC9 regulates cardiac sodium channel Nav1.5 ubiquitination, degradation and sodium current density.

Authors:  Bo Tang; Yushuang Hu; Zhijie Wang; Chen Cheng; Pengyun Wang; Lina Liang; Hongbo Xiong; Chunyan Luo; Chengqi Xu; Qiuyun Chen; Qing Kenneth Wang
Journal:  J Mol Cell Cardiol       Date:  2019-02-14       Impact factor: 5.000

6.  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

7.  SCN5A (NaV1.5) Variant Functional Perturbation and Clinical Presentation: Variants of a Certain Significance.

Authors:  Brett M Kroncke; Andrew M Glazer; Derek K Smith; Jeffrey D Blume; Dan M Roden
Journal:  Circ Genom Precis Med       Date:  2018-05

8.  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

9.  Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records.

Authors:  Sara L Van Driest; Quinn S Wells; Sarah Stallings; William S Bush; Adam Gordon; Deborah A Nickerson; Jerry H Kim; David R Crosslin; Gail P Jarvik; David S Carrell; James D Ralston; Eric B Larson; Suzette J Bielinski; Janet E Olson; Zi Ye; Iftikhar J Kullo; Noura S Abul-Husn; Stuart A Scott; Erwin Bottinger; Berta Almoguera; John Connolly; Rosetta Chiavacci; Hakon Hakonarson; Laura J Rasmussen-Torvik; Vivian Pan; Stephen D Persell; Maureen Smith; Rex L Chisholm; Terrie E Kitchner; Max M He; Murray H Brilliant; John R Wallace; Kimberly F Doheny; M Benjamin Shoemaker; Rongling Li; Teri A Manolio; Thomas E Callis; Daniela Macaya; Marc S Williams; David Carey; Jamie D Kapplinger; Michael J Ackerman; Marylyn D Ritchie; Joshua C Denny; Dan M Roden
Journal:  JAMA       Date:  2016-01-05       Impact factor: 56.272

10.  Prevalence of Atrial Fibrillation in Patients with Brugada Syndrome in Taiwan.

Authors:  Jyh-Ming Jimmy Juang; Ching-Yu Chen; Yen-Bin Liu; Lian-Yu Lin; Wen-Jone Chen; Ling-Ping Lai; Chia-Ti Tsai; Jiunn-Lee Lin
Journal:  Acta Cardiol Sin       Date:  2013-07       Impact factor: 2.672
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