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Items: 1 to 20 of 80

1.

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.

2.

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.

3.

Substitution of a conserved alanine in the domain IIIS4-S5 linker of the cardiac sodium channel causes long QT syndrome.

Smits JP, Veldkamp MW, Bezzina CR, Bhuiyan ZA, Wedekind H, Schulze-Bahr E, Wilde AA.

Cardiovasc Res. 2005 Aug 15;67(3):459-66.

PMID:
16039271
4.

Postmortem long QT syndrome genetic testing for sudden unexplained death in the young.

Tester DJ, Ackerman MJ.

J Am Coll Cardiol. 2007 Jan 16;49(2):240-6.

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
6.

Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel.

Wei J, Wang DW, Alings M, Fish F, Wathen M, Roden DM, George AL Jr.

Circulation. 1999 Jun 22;99(24):3165-71.

7.

Homozygous SCN5A mutation in long-QT syndrome with functional two-to-one atrioventricular block.

Lupoglazoff JM, Cheav T, Baroudi G, Berthet M, Denjoy I, Cauchemez B, Extramiana F, Chahine M, Guicheney P.

Circ Res. 2001 Jul 20;89(2):E16-21.

8.

Drug-induced long-QT syndrome associated with a subclinical SCN5A mutation.

Makita N, Horie M, Nakamura T, Ai T, Sasaki K, Yokoi H, Sakurai M, Sakuma I, Otani H, Sawa H, Kitabatake A.

Circulation. 2002 Sep 3;106(10):1269-74.

9.

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.

10.

[Molecular genetics of the long QT syndrome: clinical aspects].

Sepp R, Csanády M.

Orv Hetil. 1999 Nov 21;140(47):2633-8. Review. Hungarian.

PMID:
10613047
11.

Prevalence of long-QT syndrome gene variants in sudden infant death syndrome.

Arnestad M, Crotti L, Rognum TO, Insolia R, Pedrazzini M, Ferrandi C, Vege A, Wang DW, Rhodes TE, George AL Jr, Schwartz PJ.

Circulation. 2007 Jan 23;115(3):361-7.

12.

The genetic basis of long QT and short QT syndromes: a mutation update.

Hedley PL, Jørgensen P, Schlamowitz S, Wangari R, Moolman-Smook J, Brink PA, Kanters JK, Corfield VA, Christiansen M.

Hum Mutat. 2009 Nov;30(11):1486-511. doi: 10.1002/humu.21106. Review.

PMID:
19862833
13.

Characterization of human cardiac Na+ channel mutations in the congenital long QT syndrome.

Wang DW, Yazawa K, George AL Jr, Bennett PB.

Proc Natl Acad Sci U S A. 1996 Nov 12;93(23):13200-5.

14.

Cardiac ion channel gene mutations in Greek long QT syndrome patients.

Kotta CM, Anastasakis A, Gatzoulis K, Papagiannis J, Geleris P, Stefanadis C.

J Appl Genet. 2010;51(4):515-8. doi: 10.1007/BF03208882.

PMID:
21063070
15.

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.

16.

Multiple mechanisms in the long-QT syndrome. Current knowledge, gaps, and future directions. The SADS Foundation Task Force on LQTS.

Roden DM, Lazzara R, Rosen M, Schwartz PJ, Towbin J, Vincent GM.

Circulation. 1996 Oct 15;94(8):1996-2012. Review.

17.

Combination of cardiac conduction disease and long QT syndrome caused by mutation T1620K in the cardiac sodium channel.

Surber R, Hensellek S, Prochnau D, Werner GS, Benndorf K, Figulla HR, Zimmer T.

Cardiovasc Res. 2008 Mar 1;77(4):740-8.

PMID:
18065446
18.

Biophysical phenotypes of SCN5A mutations causing long QT and Brugada syndromes.

Baroudi G, Chahine M.

FEBS Lett. 2000 Dec 29;487(2):224-8.

19.

HERG mutation predicts short QT based on channel kinetics but causes long QT by heterotetrameric trafficking deficiency.

Paulussen AD, Raes A, Jongbloed RJ, Gilissen RA, Wilde AA, Snyders DJ, Smeets HJ, Aerssens J.

Cardiovasc Res. 2005 Aug 15;67(3):467-75.

PMID:
15958262
20.

New mutations in the KVLQT1 potassium channel that cause long-QT syndrome.

Li H, Chen Q, Moss AJ, Robinson J, Goytia V, Perry JC, Vincent GM, Priori SG, Lehmann MH, Denfield SW, Duff D, Kaine S, Shimizu W, Schwartz PJ, Wang Q, Towbin JA.

Circulation. 1998 Apr 7;97(13):1264-9.

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