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Items: 1 to 20 of 187

1.

Alpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current.

Cheng J, Van Norstrand DW, Medeiros-Domingo A, Valdivia C, Tan BH, Ye B, Kroboth S, Vatta M, Tester DJ, January CT, Makielski JC, Ackerman MJ.

Circ Arrhythm Electrophysiol. 2009 Dec;2(6):667-76. doi: 10.1161/CIRCEP.109.891440.

2.

Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex.

Ueda K, Valdivia C, Medeiros-Domingo A, Tester DJ, Vatta M, Farrugia G, Ackerman MJ, Makielski JC.

Proc Natl Acad Sci U S A. 2008 Jul 8;105(27):9355-60. doi: 10.1073/pnas.0801294105. Epub 2008 Jun 30.

3.

Digenic inheritance novel mutations in SCN5a and SNTA1 increase late I(Na) contributing to LQT syndrome.

Hu RM, Tan BH, Orland KM, Valdivia CR, Peterson A, Pu J, Makielski JC.

Am J Physiol Heart Circ Physiol. 2013 Apr 1;304(7):H994-H1001. doi: 10.1152/ajpheart.00705.2012. Epub 2013 Feb 1.

4.

alpha-1-syntrophin mutation and the long-QT syndrome: a disease of sodium channel disruption.

Wu G, Ai T, Kim JJ, Mohapatra B, Xi Y, Li Z, Abbasi S, Purevjav E, Samani K, Ackerman MJ, Qi M, Moss AJ, Shimizu W, Towbin JA, Cheng J, Vatta M.

Circ Arrhythm Electrophysiol. 2008 Aug;1(3):193-201. doi: 10.1161/CIRCEP.108.769224.

5.

Sudden infant death syndrome-associated mutations in the sodium channel beta subunits.

Tan BH, Pundi KN, Van Norstrand DW, Valdivia CR, Tester DJ, Medeiros-Domingo A, Makielski JC, Ackerman MJ.

Heart Rhythm. 2010 Jun;7(6):771-8. doi: 10.1016/j.hrthm.2010.01.032. Epub 2010 Feb 1.

6.

Caveolin-3 suppresses late sodium current by inhibiting nNOS-dependent S-nitrosylation of SCN5A.

Cheng J, Valdivia CR, Vaidyanathan R, Balijepalli RC, Ackerman MJ, Makielski JC.

J Mol Cell Cardiol. 2013 Aug;61:102-10. doi: 10.1016/j.yjmcc.2013.03.013. Epub 2013 Mar 26.

7.

Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3.

Cronk LB, Ye B, Kaku T, Tester DJ, Vatta M, Makielski JC, Ackerman MJ.

Heart Rhythm. 2007 Feb;4(2):161-6. Epub 2006 Dec 6.

8.

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
9.

Malignant perinatal variant of long-QT syndrome caused by a profoundly dysfunctional cardiac sodium channel.

Wang DW, Crotti L, Shimizu W, Pedrazzini M, Cantu F, De Filippo P, Kishiki K, Miyazaki A, Ikeda T, Schwartz PJ, George AL Jr.

Circ Arrhythm Electrophysiol. 2008 Dec;1(5):370-8. doi: 10.1161/CIRCEP.108.788349. Epub 2008 Dec 2.

10.

Biophysical characterization of a new SCN5A mutation S1333Y in a SIDS infant linked to long QT syndrome.

Huang H, Millat G, Rodriguez-Lafrasse C, Rousson R, Kugener B, Chevalier P, Chahine M.

FEBS Lett. 2009 Mar 4;583(5):890-6. doi: 10.1016/j.febslet.2009.02.007. Epub 2009 Feb 10.

11.

α1-Syntrophin Variant Identified in Drug-Induced Long QT Syndrome Increases Late Sodium Current.

Choi JI, Wang C, Thomas MJ, Pitt GS.

PLoS One. 2016 Mar 30;11(3):e0152355. doi: 10.1371/journal.pone.0152355. eCollection 2016.

12.

Unique mixed phenotype and unexpected functional effect revealed by novel compound heterozygosity mutations involving SCN5A.

Medeiros-Domingo A, Tan BH, Iturralde-Torres P, Tester DJ, Tusié-Luna T, Makielski JC, Ackerman MJ.

Heart Rhythm. 2009 Aug;6(8):1170-5. doi: 10.1016/j.hrthm.2009.04.034. Epub 2009 May 4.

13.

GPD1L links redox state to cardiac excitability by PKC-dependent phosphorylation of the sodium channel SCN5A.

Valdivia CR, Ueda K, Ackerman MJ, Makielski JC.

Am J Physiol Heart Circ Physiol. 2009 Oct;297(4):H1446-52. doi: 10.1152/ajpheart.00513.2009. Epub 2009 Aug 7.

14.

A sodium channel pore mutation causing Brugada syndrome.

Pfahnl AE, Viswanathan PC, Weiss R, Shang LL, Sanyal S, Shusterman V, Kornblit C, London B, Dudley SC Jr.

Heart Rhythm. 2007 Jan;4(1):46-53. Epub 2006 Sep 28.

15.

Loss-of-function mutations in the KCNJ8-encoded Kir6.1 K(ATP) channel and sudden infant death syndrome.

Tester DJ, Tan BH, Medeiros-Domingo A, Song C, Makielski JC, Ackerman MJ.

Circ Cardiovasc Genet. 2011 Oct;4(5):510-5. doi: 10.1161/CIRCGENETICS.111.960195. Epub 2011 Aug 11.

16.

Y1767C, a novel SCN5A mutation, induces a persistent Na+ current and potentiates ranolazine inhibition of Nav1.5 channels.

Huang H, Priori SG, Napolitano C, O'Leary ME, Chahine M.

Am J Physiol Heart Circ Physiol. 2011 Jan;300(1):H288-99. doi: 10.1152/ajpheart.00539.2010. Epub 2010 Nov 12.

17.

Cardiac ion channel gene mutations in sudden infant death syndrome.

Otagiri T, Kijima K, Osawa M, Ishii K, Makita N, Matoba R, Umetsu K, Hayasaka K.

Pediatr Res. 2008 Nov;64(5):482-7. doi: 10.1203/PDR.0b013e3181841eca.

PMID:
18596570
18.

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.

19.

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
20.

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.

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