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XB--6037406
Papers associated with scn5a
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Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system., Bezzina CR, Rook MB, Groenewegen WA, Herfst LJ, van der Wal AC, Lam J, Jongsma HJ, Wilde AA, Mannens MM., Circ Res. February 7, 2003; 92 (2): 159-68. |
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A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill., Groenewegen WA, Firouzi M, Bezzina CR, Vliex S, van Langen IM, Sandkuijl L, Smits JP, Hulsbeek M, Rook MB, Jongsma HJ, Wilde AA., Circ Res. January 10, 2003; 92 (1): 14-22. |
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Cocaine binds to a common site on open and inactivated human heart (Na(v)1.5) sodium channels., O'Leary ME, Chahine M., J Physiol. June 15, 2002; 541 (Pt 3): 701-16. |
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Novel mutations in domain I of SCN5A cause Brugada syndrome., Vatta M, Dumaine R, Antzelevitch C, Brugada R, Li H, Bowles NE, Nademanee K, Brugada J, Brugada P, Towbin JA., Mol Genet Metab. April 1, 2002; 75 (4): 317-24. |
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Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome., Vatta M, Dumaine R, Varghese G, Richard TA, Shimizu W, Aihara N, Nademanee K, Brugada R, Brugada J, Veerakul G, Li H, Bowles NE, Brugada P, Antzelevitch C, Towbin JA., Hum Mol Genet. February 1, 2002; 11 (3): 337-45. |
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The sodium channel beta-subunit SCN3b modulates the kinetics of SCN5a and is expressed heterogeneously in sheep heart., Fahmi AI, Patel M, Stevens EB, Fowden AL, John JE, Lee K, Pinnock R, Morgan K, Jackson AP, Vandenberg JI., J Physiol. December 15, 2001; 537 (Pt 3): 693-700. |
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Novel mechanism for Brugada syndrome: defective surface localization of an SCN5A mutant (R1432G)., Baroudi G, Pouliot V, Denjoy I, Guicheney P, Shrier A, Chahine M., Circ Res. June 22, 2001; 88 (12): E78-83. |
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Functional suppression of sodium channels by beta(1)-subunits as a molecular mechanism of idiopathic ventricular fibrillation., Wan X, Wang Q, Kirsch GE., J Mol Cell Cardiol. October 1, 2000; 32 (10): 1873-84. |
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A revised view of cardiac sodium channel "blockade" in the long-QT syndrome., Kambouris NG, Nuss HB, Johns DC, Marbán E, Tomaselli GF, Balser JR., J Clin Invest. April 1, 2000; 105 (8): 1133-40. |
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SCN5A mutation (T1620M) causing Brugada syndrome exhibits different phenotypes when expressed in Xenopus oocytes and mammalian cells., Baroudi G, Carbonneau E, Pouliot V, Chahine M., FEBS Lett. February 4, 2000; 467 (1): 12-6. |
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Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome., Rook MB, Bezzina Alshinawi C, Groenewegen WA, van Gelder IC, van Ginneken AC, Jongsma HJ, Mannens MM, Wilde AA., Cardiovasc Res. December 1, 1999; 44 (3): 507-17. |
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A single Na(+) channel mutation causing both long-QT and Brugada syndromes., Bezzina C, Veldkamp MW, van Den Berg MP, Postma AV, Rook MB, Viersma JW, van Langen IM, Tan-Sindhunata G, Bink-Boelkens MT, van Der Hout AH, Mannens MM, Wilde AA., Circ Res. December 1, 1999; 85 (12): 1206-13. |
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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., Circulation. June 22, 1999; 99 (24): 3165-71. |
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Genetic basis and molecular mechanism for idiopathic ventricular fibrillation., Chen Q, Kirsch GE, Zhang D, Brugada R, Brugada J, Brugada P, Potenza D, Moya A, Borggrefe M, Breithardt G, Ortiz-Lopez R, Wang Z, Antzelevitch C, O'Brien RE, Schulze-Bahr E, Keating MT, Towbin JA, Wang Q., Nature. March 19, 1998; 392 (6673): 293-6. |
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Phenotypic characterization of a novel long-QT syndrome mutation (R1623Q) in the cardiac sodium channel., Kambouris NG, Nuss HB, Johns DC, Tomaselli GF, Marban E, Balser JR., Circulation. February 24, 1998; 97 (7): 640-4. |
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A de novo missense mutation of human cardiac Na+ channel exhibiting novel molecular mechanisms of long QT syndrome., Makita N, Shirai N, Nagashima M, Matsuoka R, Yamada Y, Tohse N, Kitabatake A., FEBS Lett. February 13, 1998; 423 (1): 5-9. |
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Molecular mechanism for an inherited cardiac arrhythmia., Bennett PB, Yazawa K, Makita N, George AL., Nature. August 24, 1995; 376 (6542): 683-5. |
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