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Results: 1 to 20 of 101

Similar articles for PubMed (Select 21385947)

1.

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.

2.

Overrepresentation of the proarrhythmic, sudden death predisposing sodium channel polymorphism S1103Y in a population-based cohort of African-American sudden infant death syndrome.

Van Norstrand DW, Tester DJ, Ackerman MJ.

Heart Rhythm. 2008 May;5(5):712-5. doi: 10.1016/j.hrthm.2008.02.012. Epub 2008 Feb 16.

3.

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.

4.

SNP S1103Y in the cardiac sodium channel gene SCN5A is associated with cardiac arrhythmias and sudden death in a white family.

Chen S, Chung MK, Martin D, Rozich R, Tchou PJ, Wang Q.

J Med Genet. 2002 Dec;39(12):913-5.

5.

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.

6.
7.

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.

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. Epub 2006 Apr 21.

9.

Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome.

Ackerman MJ, Siu BL, Sturner WQ, Tester DJ, Valdivia CR, Makielski JC, Towbin JA.

JAMA. 2001 Nov 14;286(18):2264-9.

PMID:
11710892
10.

Epidemiologic, molecular, and functional evidence suggest A572D-SCN5A should not be considered an independent LQT3-susceptibility mutation.

Tester DJ, Valdivia C, Harris-Kerr C, Alders M, Salisbury BA, Wilde AA, Makielski JC, Ackerman MJ.

Heart Rhythm. 2010 Jul;7(7):912-9. doi: 10.1016/j.hrthm.2010.04.014. Epub 2010 Apr 24.

11.

Sodium channel mutation in irritable bowel syndrome: evidence for an ion channelopathy.

Saito YA, Strege PR, Tester DJ, Locke GR 3rd, Talley NJ, Bernard CE, Rae JL, Makielski JC, Ackerman MJ, Farrugia G.

Am J Physiol Gastrointest Liver Physiol. 2009 Feb;296(2):G211-8. doi: 10.1152/ajpgi.90571.2008. Epub 2008 Dec 4.

12.

A common SCN5A polymorphism modulates the biophysical defects of SCN5A mutations.

Shinlapawittayatorn K, Du XX, Liu H, Ficker E, Kaufman ES, DeschĂȘnes I.

Heart Rhythm. 2011 Mar;8(3):455-62. doi: 10.1016/j.hrthm.2010.11.034. Epub 2010 Nov 23.

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. Print 2013.

14.

Multiple arrhythmic syndromes in a newborn, owing to a novel mutation in SCN5A.

Calloe K, Schmitt N, Grubb S, Pfeiffer R, David JP, Kanter R, Cordeiro JM, Antzelevitch C.

Can J Physiol Pharmacol. 2011 Oct;89(10):723-36. doi: 10.1139/y11-070. Epub 2011 Sep 6.

15.

Readthrough of nonsense mutation W822X in the SCN5A gene can effectively restore expression of cardiac Na+ channels.

Teng S, Gao L, Paajanen V, Pu J, Fan Z.

Cardiovasc Res. 2009 Aug 1;83(3):473-80. doi: 10.1093/cvr/cvp116. Epub 2009 Apr 17.

16.

Arrhythmogenic Biophysical Phenotype for SCN5A Mutation S1787N Depends upon Splice Variant Background and Intracellular Acidosis.

Hu RM, Tan BH, Tester DJ, Song C, He Y, Dovat S, Peterson BZ, Ackerman MJ, Makielski JC.

PLoS One. 2015 Apr 29;10(4):e0124921. doi: 10.1371/journal.pone.0124921. eCollection 2015.

17.

Mutations in the SCN5A gene: evidence for a link between long QT syndrome and sudden death?

Kiehne N, Kauferstein S.

Forensic Sci Int Genet. 2007 Jun;1(2):170-4. doi: 10.1016/j.fsigen.2007.01.009. Epub 2007 Feb 26.

PMID:
19083750
18.

The S1103Y cardiac sodium channel variant is associated with implantable cardioverter-defibrillator events in blacks with heart failure and reduced ejection fraction.

Sun AY, Koontz JI, Shah SH, Piccini JP, Nilsson KR Jr, Craig D, Haynes C, Gregory SG, Hranitzky PM, Pitt GS.

Circ Cardiovasc Genet. 2011 Apr;4(2):163-8. doi: 10.1161/CIRCGENETICS.110.958652. Epub 2011 Apr 15.

19.

A common SCN5A variant is associated with PR interval and atrial fibrillation among African Americans.

Ilkhanoff L, Arking DE, Lemaitre RN, Alonso A, Chen LY, Durda P, Hesselson SE, Kerr KF, Magnani JW, Marcus GM, Schnabel RB, Smith JG, Soliman EZ, Reiner AP, Sotoodehnia N; Candidate-Gene Association Resource (CARE) Consortium and the Cardiac Arrest Blood Study (CABS) Investigators.

J Cardiovasc Electrophysiol. 2014 Nov;25(11):1150-7. doi: 10.1111/jce.12483. Epub 2014 Aug 25.

PMID:
25065297
20.

A novel rare variant in SCN1Bb linked to Brugada syndrome and SIDS by combined modulation of Na(v)1.5 and K(v)4.3 channel currents.

Hu D, Barajas-MartĂ­nez H, Medeiros-Domingo A, Crotti L, Veltmann C, Schimpf R, Urrutia J, Alday A, Casis O, Pfeiffer R, Burashnikov E, Caceres G, Tester DJ, Wolpert C, Borggrefe M, Schwartz P, Ackerman MJ, Antzelevitch C.

Heart Rhythm. 2012 May;9(5):760-9. doi: 10.1016/j.hrthm.2011.12.006. Epub 2011 Dec 7.

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