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Results: 1 to 20 of 184

1.

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.

PMID:
19684871
[PubMed - indexed for MEDLINE]
Free PMC Article
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.

PMID:
18591664
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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. Epub .

PMID:
20009079
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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.

PMID:
23376825
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

A novel mutation in SCN5A, delQKP 1507-1509, causing long QT syndrome: role of Q1507 residue in sodium channel inactivation.

Keller DI, Acharfi S, Delacrétaz E, Benammar N, Rotter M, Pfammatter JP, Fressart V, Guicheney P, Chahine M.

J Mol Cell Cardiol. 2003 Dec;35(12):1513-21.

PMID:
14654377
[PubMed - indexed for MEDLINE]
6.

Novel arrhythmogenic mechanism revealed by a long-QT syndrome mutation in the cardiac Na(+) channel.

Abriel H, Cabo C, Wehrens XH, Rivolta I, Motoike HK, Memmi M, Napolitano C, Priori SG, Kass RS.

Circ Res. 2001 Apr 13;88(7):740-5.

PMID:
11304498
[PubMed - indexed for MEDLINE]
Free Article
7.

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.

PMID:
19808432
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

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.

PMID:
17198989
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

LQTS-associated mutation A257G in α1-syntrophin interacts with the intragenic variant P74L to modify its biophysical phenotype.

Cheng J, Norstrand DW, Medeiros-Domingo A, Tester DJ, Valdivia CR, Tan BH, Vatta M, Makielski JC, Ackerman MJ.

Cardiogenetics. 2011 Oct 25;1(1). pii: 136.

PMID:
24319568
[PubMed]
Free PMC Article
10.

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.

PMID:
21076026
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome.

Vatta M, Ackerman MJ, Ye B, Makielski JC, Ughanze EE, Taylor EW, Tester DJ, Balijepalli RC, Foell JD, Li Z, Kamp TJ, Towbin JA.

Circulation. 2006 Nov 14;114(20):2104-12. Epub 2006 Oct 23.

PMID:
17060380
[PubMed - indexed for MEDLINE]
Free Article
12.

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, Heidbüchel H, Doevendans PA, Vos MA, Wellens HJ, Kass RS.

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

PMID:
12673799
[PubMed - indexed for MEDLINE]
13.

Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

Kapplinger JD, Tester DJ, Salisbury BA, Carr JL, Harris-Kerr C, Pollevick GD, Wilde AA, Ackerman MJ.

Heart Rhythm. 2009 Sep;6(9):1297-303. doi: 10.1016/j.hrthm.2009.05.021. Epub 2009 Jun 23.

PMID:
19716085
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

[A novel KCNQ1 mutation in Chinese with congenital long QT syndrome].

Liang L, Du ZD, Cai LL, Wu JX, Zheng T, Qi TX.

Zhonghua Er Ke Za Zhi. 2003 Oct;41(10):724-7. Chinese.

PMID:
14731347
[PubMed - indexed for MEDLINE]
15.

Investigation of ion channel gene variants in patients with long QT syndrome.

Ernesto C, Cruz FE, Lima FS, Coutinho JL, Silva R, Urményi TP, Carvalho AC, Rondinelli E.

Arq Bras Cardiol. 2011 Mar;96(3):172-8. Epub 2011 Feb 4. English, Portuguese, Spanish.

PMID:
21308345
[PubMed - indexed for MEDLINE]
Free Article
16.

Altered Na+ channels promote pause-induced spontaneous diastolic activity in long QT syndrome type 3 myocytes.

Fredj S, Lindegger N, Sampson KJ, Carmeliet P, Kass RS.

Circ Res. 2006 Nov 24;99(11):1225-32. Epub 2006 Nov 2.

PMID:
17082480
[PubMed - indexed for MEDLINE]
Free Article
17.

Gating properties of SCN5A mutations and the response to mexiletine in long-QT syndrome type 3 patients.

Ruan Y, Liu N, Bloise R, Napolitano C, Priori SG.

Circulation. 2007 Sep 4;116(10):1137-44. Epub 2007 Aug 13.

PMID:
17698727
[PubMed - indexed for MEDLINE]
Free Article
18.

The variant hERG/R148W associated with LQTS is a mutation that reduces current density on co-expression with the WT.

Mechakra A, Vincent Y, Chevalier P, Millat G, Ficker E, Jastrzebski M, Poulin H, Pouliot V, Chahine M, Christé G.

Gene. 2014 Feb 25;536(2):348-56. doi: 10.1016/j.gene.2013.11.072. Epub 2013 Dec 12.

PMID:
24334129
[PubMed - indexed for MEDLINE]
19.

[Molecular genetics in the hereditary form of long QT syndrome].

Georgijević Milić L.

Med Pregl. 2000 Jan-Feb;53(1-2):51-4. Review. Croatian.

PMID:
10953551
[PubMed - indexed for MEDLINE]
20.

SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome.

Medeiros-Domingo A, Kaku T, Tester DJ, Iturralde-Torres P, Itty A, Ye B, Valdivia C, Ueda K, Canizales-Quinteros S, Tusié-Luna MT, Makielski JC, Ackerman MJ.

Circulation. 2007 Jul 10;116(2):134-42. Epub 2007 Jun 25.

PMID:
17592081
[PubMed - indexed for MEDLINE]
Free PMC Article

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