Literature DB >> 15689442

R1193Q of SCN5A, a Brugada and long QT mutation, is a common polymorphism in Han Chinese.

H W Hwang, J J Chen, Y J Lin, R C Shieh, M T Lee, S I Hung, J Y Wu, Y T Chen, D M Niu, B T Hwang.   

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Year:  2005        PMID： 15689442      PMCID： PMC1735991          DOI： 10.1136/jmg.2004.027995

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


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  22 in total

1.  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

2.  A common SCN5A polymorphism attenuates a severe cardiac phenotype caused by a nonsense SCN5A mutation in a Chinese family with an inherited cardiac conduction defect.

Authors:  Dau-Ming Niu; Betau Hwang; Han-Wei Hwang; Nana H Wang; Jer-Yuarn Wu; Pi-Chang Lee; Jen-Chung Chien; Ru-Chi Shieh; Yuan-Tsong Chen
Journal:  J Med Genet       Date:  2006-05-17       Impact factor: 6.318

3.  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

4.  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

5.  Early somatic mosaicism is a rare cause of long-QT syndrome.

Authors:  James Rush Priest; Charles Gawad; Kristopher M Kahlig; Joseph K Yu; Thomas O'Hara; Patrick M Boyle; Sridharan Rajamani; Michael J Clark; Sarah T K Garcia; Scott Ceresnak; Jason Harris; Sean Boyle; Frederick E Dewey; Lindsey Malloy-Walton; Kyla Dunn; Megan Grove; Marco V Perez; Norma F Neff; Richard Chen; Katsuhide Maeda; Anne Dubin; Luiz Belardinelli; John West; Christian Antolik; Daniela Macaya; Thomas Quertermous; Natalia A Trayanova; Stephen R Quake; Euan A Ashley
Journal:  Proc Natl Acad Sci U S A       Date:  2016-09-28       Impact factor: 11.205

6.  Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation.

Authors:  Dawood Darbar; Prince J Kannankeril; Brian S Donahue; Gayle Kucera; Tanya Stubblefield; Jonathan L Haines; Alfred L George; Dan M Roden
Journal:  Circulation       Date:  2008-03-31       Impact factor: 29.690

7.  Long QT syndrome-associated mutations in intrauterine fetal death.

Authors:  Lia Crotti; David J Tester; Wendy M White; Daniel C Bartos; Roberto Insolia; Alessandra Besana; Jennifer D Kunic; Melissa L Will; Ellyn J Velasco; Jennifer J Bair; Alice Ghidoni; Irene Cetin; Daniel L Van Dyke; Myra J Wick; Brian Brost; Brian P Delisle; Fabio Facchinetti; Alfred L George; Peter J Schwartz; Michael J Ackerman
Journal:  JAMA       Date:  2013-04-10       Impact factor: 56.272

8.  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

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.  Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome.

Authors:  Catarina Allegue; Mònica Coll; Jesus Mates; Oscar Campuzano; Anna Iglesias; Beatriz Sobrino; Maria Brion; Jorge Amigo; Angel Carracedo; Pedro Brugada; Josep Brugada; Ramon Brugada
Journal:  PLoS One       Date:  2015-07-31       Impact factor: 3.240
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