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Results: 1 to 20 of 72

1.

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
[PubMed - indexed for MEDLINE]
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.

PMID:
14500339
[PubMed - indexed for MEDLINE]
Free Article
3.

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.

PMID:
16632547
[PubMed - indexed for MEDLINE]
Free Article
4.

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.

PMID:
21167004
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

The common African American polymorphism SCN5A-S1103Y interacts with mutation SCN5A-R680H to increase late Na current.

Cheng J, Tester DJ, Tan BH, Valdivia CR, Kroboth S, Ye B, January CT, Ackerman MJ, Makielski JC.

Physiol Genomics. 2011 May 13;43(9):461-6. doi: 10.1152/physiolgenomics.00198.2010. Epub 2011 Mar 8.

PMID:
21385947
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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. Epub 2010 Apr 6.

PMID:
20384651
[PubMed - indexed for MEDLINE]
7.

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.

PMID:
16453024
[PubMed - indexed for MEDLINE]
Free PMC Article
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, DeschĂȘnes I.

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

PMID:
16864729
[PubMed - indexed for MEDLINE]
Free Article
9.

Dilated cardiomyopathy is associated with reduced expression of the cardiac sodium channel Scn5a.

Hesse M, Kondo CS, Clark RB, Su L, Allen FL, Geary-Joo CT, Kunnathu S, Severson DL, Nygren A, Giles WR, Cross JC.

Cardiovasc Res. 2007 Aug 1;75(3):498-509. Epub 2007 Apr 21.

PMID:
17512504
[PubMed - indexed for MEDLINE]
Free Article
10.

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. Epub 2007 Jan 8.

PMID:
17210841
[PubMed - indexed for MEDLINE]
Free Article
11.

Tandem promoters and developmentally regulated 5'- and 3'-mRNA untranslated regions of the mouse Scn5a cardiac sodium channel.

Shang LL, Dudley SC Jr.

J Biol Chem. 2005 Jan 14;280(2):933-40. Epub 2004 Oct 14.

PMID:
15485820
[PubMed - indexed for MEDLINE]
Free Article
12.

Functional polymorphisms in the alpha-subunit of the human epithelial Na+ channel increase activity.

Tong Q, Menon AG, Stockand JD.

Am J Physiol Renal Physiol. 2006 Apr;290(4):F821-7. Epub 2005 Oct 25.

PMID:
16249274
[PubMed - indexed for MEDLINE]
Free Article
13.

Biophysical properties of human Na v1.7 splice variants and their regulation by protein kinase A.

Chatelier A, Dahllund L, Eriksson A, Krupp J, Chahine M.

J Neurophysiol. 2008 May;99(5):2241-50. doi: 10.1152/jn.01350.2007. Epub 2008 Mar 12.

PMID:
18337362
[PubMed - indexed for MEDLINE]
Free Article
14.

Tetrodotoxin-resistant Na+ channels in human neuroblastoma cells are encoded by new variants of Nav1.5/SCN5A.

Ou SW, Kameyama A, Hao LY, Horiuchi M, Minobe E, Wang WY, Makita N, Kameyama M.

Eur J Neurosci. 2005 Aug;22(4):793-801.

PMID:
16115203
[PubMed - indexed for MEDLINE]
15.

A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation.

Ye B, Valdivia CR, Ackerman MJ, Makielski JC.

Physiol Genomics. 2003 Feb 6;12(3):187-93.

PMID:
12454206
[PubMed - indexed for MEDLINE]
16.

Analysis of four novel variants of Nav1.5/SCN5A cloned from the brain.

Wang J, Ou SW, Wang YJ, Kameyama M, Kameyama A, Zong ZH.

Neurosci Res. 2009 Aug;64(4):339-47. doi: 10.1016/j.neures.2009.04.003. Epub 2009 Apr 17.

PMID:
19376164
[PubMed - indexed for MEDLINE]
17.

A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation.

Viswanathan PC, Benson DW, Balser JR.

J Clin Invest. 2003 Feb;111(3):341-6.

PMID:
12569159
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Electrophysiological and developmental implications of Na+ channel-splice variants.

Onkal R, Djamgoz MB.

J Neurogenet. 2008;22(3):187-90; author reply 191. No abstract available.

PMID:
21381255
[PubMed - indexed for MEDLINE]
19.

Differential splicing patterns of L-type calcium channel Cav1.2 subunit in hearts of Spontaneously Hypertensive Rats and Wistar Kyoto Rats.

Tang ZZ, Liao P, Li G, Jiang FL, Yu D, Hong X, Yong TF, Tan G, Lu S, Wang J, Soong TW.

Biochim Biophys Acta. 2008 Jan;1783(1):118-30. Epub 2007 Nov 19.

PMID:
18070605
[PubMed - indexed for MEDLINE]
Free Article
20.

A common SCN5A variant alters the responsiveness of human sodium channels to class I antiarrhythmic agents.

Shuraih M, Ai T, Vatta M, Sohma Y, Merkle EM, Taylor E, Li Z, Xi Y, Razavi M, Towbin JA, Cheng J.

J Cardiovasc Electrophysiol. 2007 Apr;18(4):434-40. Epub 2007 Jan 10. Erratum in: J Cardiovasc Electrophysiol. 2007 Jun;18(6):690.

PMID:
17331104
[PubMed - indexed for MEDLINE]

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