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Items: 1 to 20 of 134

1.

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. Epub 2006 Apr 21.

2.

A ubiquitous splice variant and a common polymorphism affect heterologous expression of recombinant human SCN5A heart sodium channels.

Makielski JC, Ye B, Valdivia CR, Pagel MD, Pu J, Tester DJ, Ackerman MJ.

Circ Res. 2003 Oct 31;93(9):821-8. Epub 2003 Sep 18.

3.

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.

PMID:
15023552
4.

Divergent biophysical defects caused by mutant sodium channels in dilated cardiomyopathy with arrhythmia.

Nguyen TP, Wang DW, Rhodes TH, George AL Jr.

Circ Res. 2008 Feb 15;102(3):364-71. Epub 2007 Nov 29.

5.

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
6.

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. Epub 2006 Dec 1.

PMID:
17141278
7.

SCN5A rare variants in familial dilated cardiomyopathy decrease peak sodium current depending on the common polymorphism H558R and common splice variant Q1077del.

Cheng J, Morales A, Siegfried JD, Li D, Norton N, Song J, Gonzalez-Quintana J, Makielski JC, Hershberger RE.

Clin Transl Sci. 2010 Dec;3(6):287-94. doi: 10.1111/j.1752-8062.2010.00249.x.

8.

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, Deschênes I.

Circulation. 2006 Aug 1;114(5):368-76. Epub 2006 Jul 24.

9.

Common human SCN5A polymorphisms have altered electrophysiology when expressed in Q1077 splice variants.

Tan BH, Valdivia CR, Rok BA, Ye B, Ruwaldt KM, Tester DJ, Ackerman MJ, Makielski JC.

Heart Rhythm. 2005 Jul;2(7):741-7.

PMID:
15992732
10.

Expression and intracellular localization of an SCN5A double mutant R1232W/T1620M implicated in Brugada syndrome.

Baroudi G, Acharfi S, Larouche C, Chahine M.

Circ Res. 2002 Jan 11;90(1):E11-6.

11.

A novel mutation L619F in the cardiac Na+ channel SCN5A associated with long-QT syndrome (LQT3): a role for the I-II linker in inactivation gating.

Wehrens XH, Rossenbacker T, Jongbloed RJ, Gewillig M, Heidb├╝chel H, Doevendans PA, Vos MA, Wellens HJ, Kass RS.

Hum Mutat. 2003 May;21(5):552.

PMID:
12673799
12.

Enhanced Na(+) channel intermediate inactivation in Brugada syndrome.

Wang DW, Makita N, Kitabatake A, Balser JR, George AL Jr.

Circ Res. 2000 Oct 13;87(8):E37-43.

13.
14.

Preferred mexiletine block of human sodium channels with IVS4 mutations and its pH-dependence.

Mohammadi B, Jurkat-Rott K, Alekov A, Dengler R, Bufler J, Lehmann-Horn F.

Pharmacogenet Genomics. 2005 Apr;15(4):235-44.

PMID:
15864116
15.

Mutation-specific effects of lidocaine in Brugada syndrome.

Clancy CE, Wehrens XH.

Int J Cardiol. 2007 Oct 18;121(3):249-52. Epub 2007 Aug 29.

PMID:
17761312
16.

Trafficking defects and gating abnormalities of a novel SCN5A mutation question gene-specific therapy in long QT syndrome type 3.

Ruan Y, Denegri M, Liu N, Bachetti T, Seregni M, Morotti S, Severi S, Napolitano C, Priori SG.

Circ Res. 2010 Apr 30;106(8):1374-83. doi: 10.1161/CIRCRESAHA.110.218891. Epub 2010 Mar 25.

17.

Unexpected mexiletine responses of a mutant cardiac Na+ channel implicate the selectivity filter as a structural determinant of antiarrhythmic drug access.

Sasaki K, Makita N, Sunami A, Sakurada H, Shirai N, Yokoi H, Kimura A, Tohse N, Hiraoka M, Kitabatake A.

Mol Pharmacol. 2004 Aug;66(2):330-6.

18.

A mutant cardiac sodium channel with multiple biophysical defects associated with overlapping clinical features of Brugada syndrome and cardiac conduction disease.

Shirai N, Makita N, Sasaki K, Yokoi H, Sakuma I, Sakurada H, Akai J, Kimura A, Hiraoka M, Kitabatake A.

Cardiovasc Res. 2002 Feb 1;53(2):348-54.

PMID:
11827685
19.

A common cardiac sodium channel variant associated with sudden infant death in African Americans, SCN5A S1103Y.

Plant LD, Bowers PN, Liu Q, Morgan T, Zhang T, State MW, Chen W, Kittles RA, Goldstein SA.

J Clin Invest. 2006 Feb;116(2):430-5.

20.

Actions of ATX-II and other gating-modifiers on Na(+) currents in HEK-293 cells expressing WT and DeltaKPQ hNa(V) 1.5 Na(+) channels.

Spencer CI.

Toxicon. 2009 Jan;53(1):78-89. doi: 10.1016/j.toxicon.2008.10.015. Epub 2008 Nov 1. Erratum in: Toxicon. 2009 May;53(6):698.

PMID:
18996139

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