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Items: 1 to 20 of 213

1.

SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene.

Poelzing S, Forleo C, Samodell M, Dudash L, Sorrentino S, Anaclerio M, Troccoli R, Iacoviello M, Romito R, Guida P, Chahine M, Pitzalis M, DeschĂȘnes I.

Circulation. 2006 Aug 1;114(5):368-76.

2.

Cardiac sodium channel dysfunction in sudden infant death syndrome.

Wang DW, Desai RR, Crotti L, Arnestad M, Insolia R, Pedrazzini M, Ferrandi C, Vege A, Rognum T, Schwartz PJ, George AL Jr.

Circulation. 2007 Jan 23;115(3):368-76.

3.

The occurrence of Brugada syndrome and isolated cardiac conductive disease in the same family could be due to a single SCN5A mutation or to the accidental association of both diseases.

Six I, Hermida JS, Huang H, Gouas L, Fressart V, Benammar N, Hainque B, Denjoy I, Chahine M, Guicheney P.

Europace. 2008 Jan;10(1):79-85.

4.

Mutation-specific effects of polymorphism H558R in SCN5A-related sick sinus syndrome.

Gui J, Wang T, Trump D, Zimmer T, Lei M.

J Cardiovasc Electrophysiol. 2010 May;21(5):564-73. doi: 10.1111/j.1540-8167.2010.01762.x.

PMID:
20384651
5.

[Gene (SCN5A) mutation analysis of a Chinese family with Brugada syndrome].

Tian L, Zhu JF, Yang JG.

Zhonghua Xin Xue Guan Bing Za Zhi. 2007 Dec;35(12):1122-5. Chinese.

PMID:
18341814
6.

Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies.

Meregalli PG, Tan HL, Probst V, Koopmann TT, Tanck MW, Bhuiyan ZA, Sacher F, Kyndt F, Schott JJ, Albuisson J, Mabo P, Bezzina CR, Le Marec H, Wilde AA.

Heart Rhythm. 2009 Mar;6(3):341-8. doi: 10.1016/j.hrthm.2008.11.009.

PMID:
19251209
7.

Genetic modulation of brugada syndrome by a common polymorphism.

Lizotte E, Junttila MJ, Dube MP, Hong K, Benito B, DE Zutter M, Henkens S, Sarkozy A, Huikuri HV, Towbin J, Vatta M, Brugada P, Brugada J, Brugada R.

J Cardiovasc Electrophysiol. 2009 Oct;20(10):1137-41. doi: 10.1111/j.1540-8167.2009.01508.x.

PMID:
19549036
8.

Partial expression defect for the SCN5A missense mutation G1406R depends on splice variant background Q1077 and rescue by mexiletine.

Tan BH, Valdivia CR, Song C, Makielski JC.

Am J Physiol Heart Circ Physiol. 2006 Oct;291(4):H1822-8.

9.

Clinical and electrophysiological characteristics of Brugada syndrome caused by a missense mutation in the S5-pore site of SCN5A.

Itoh H, Shimizu M, Mabuchi H, Imoto K.

J Cardiovasc Electrophysiol. 2005 Apr;16(4):378-83.

PMID:
15828879
10.

Functional characterization of a trafficking-defective HCN4 mutation, D553N, associated with cardiac arrhythmia.

Ueda K, Nakamura K, Hayashi T, Inagaki N, Takahashi M, Arimura T, Morita H, Higashiuesato Y, Hirano Y, Yasunami M, Takishita S, Yamashina A, Ohe T, Sunamori M, Hiraoka M, Kimura A.

J Biol Chem. 2004 Jun 25;279(26):27194-8.

PMID:
15123648
11.

[Novel SCN5A gene mutations associated with Brugada syndrome: V95I, A1649V and delF1617].

Liang P, Liu WL, Hu DY, Li CL, Tao WH, Li L.

Zhonghua Xin Xue Guan Bing Za Zhi. 2006 Jul;34(7):616-9. Chinese.

PMID:
17081365
12.

SCN5A channelopathies--an update on mutations and mechanisms.

Zimmer T, Surber R.

Prog Biophys Mol Biol. 2008 Oct-Nov;98(2-3):120-36. doi: 10.1016/j.pbiomolbio.2008.10.005. Review.

PMID:
19027780
13.

A heterozygous deletion mutation in the cardiac sodium channel gene SCN5A with loss- and gain-of-function characteristics manifests as isolated conduction disease, without signs of Brugada or long QT syndrome.

Zumhagen S, Veldkamp MW, Stallmeyer B, Baartscheer A, Eckardt L, Paul M, Remme CA, Bhuiyan ZA, Bezzina CR, Schulze-Bahr E.

PLoS One. 2013 Jun 28;8(6):e67963. doi: 10.1371/journal.pone.0067963.

14.

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

Hwang HW, Chen JJ, Lin YJ, Shieh RC, Lee MT, Hung SI, Wu JY, Chen YT, Niu DM, Hwang BT.

J Med Genet. 2005 Feb;42(2):e7; author reply e8. No abstract available.

15.

A trafficking defective, Brugada syndrome-causing SCN5A mutation rescued by drugs.

Valdivia CR, Tester DJ, Rok BA, Porter CB, Munger TM, Jahangir A, Makielski JC, Ackerman MJ.

Cardiovasc Res. 2004 Apr 1;62(1):53-62.

16.

A novel mutation in the SCN5A gene is associated with Brugada syndrome.

Shin DJ, Kim E, Park SB, Jang WC, Bae Y, Han J, Jang Y, Joung B, Lee MH, Kim SS, Huang H, Chahine M, Yoon SK.

Life Sci. 2007 Jan 30;80(8):716-24.

PMID:
17141278
17.

Genetic analysis of the cardiac sodium channel gene SCN5A in Koreans with Brugada syndrome.

Shin DJ, Jang Y, Park HY, Lee JE, Yang K, Kim E, Bae Y, Kim J, Kim J, Kim SS, Lee MH, Chahine M, Yoon SK.

J Hum Genet. 2004;49(10):573-8.

PMID:
15338453
18.

Characterization of a novel SCN5A mutation associated with Brugada syndrome reveals involvement of DIIIS4-S5 linker in slow inactivation.

Casini S, Tan HL, Bhuiyan ZA, Bezzina CR, Barnett P, Cerbai E, Mugelli A, Wilde AA, Veldkamp MW.

Cardiovasc Res. 2007 Dec 1;76(3):418-29.

19.

[Detection of gene mutations of SCN5A in 7 patients with Brugada syndrome].

Yuan BB, Shan QJ, Yang B, Chen ML, Zou JG, Chen C, Xu DJ, Cao KJ.

Zhonghua Xin Xue Guan Bing Za Zhi. 2008 May;36(5):404-7. Chinese.

PMID:
19100032
20.

Novel Brugada syndrome-causing mutation in ion-conducting pore of cardiac Na+ channel does not affect ion selectivity properties.

Amin AS, Verkerk AO, Bhuiyan ZA, Wilde AA, Tan HL.

Acta Physiol Scand. 2005 Dec;185(4):291-301.

PMID:
16266370
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