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Results: 1 to 20 of 167

1.

Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans.

Watanabe H, Koopmann TT, Le Scouarnec S, Yang T, Ingram CR, Schott JJ, Demolombe S, Probst V, Anselme F, Escande D, Wiesfeld AC, Pfeufer A, Kääb S, Wichmann HE, Hasdemir C, Aizawa Y, Wilde AA, Roden DM, Bezzina CR.

J Clin Invest. 2008 Jun;118(6):2260-8. doi: 10.1172/JCI33891.

PMID:
18464934
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Mutations in sodium channel β1- and β2-subunits associated with atrial fibrillation.

Watanabe H, Darbar D, Kaiser DW, Jiramongkolchai K, Chopra S, Donahue BS, Kannankeril PJ, Roden DM.

Circ Arrhythm Electrophysiol. 2009 Jun;2(3):268-75. doi: 10.1161/CIRCEP.108.779181. Epub 2009 Mar 6.

PMID:
19808477
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

A mutation in the beta 3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype.

Hu D, Barajas-Martinez H, Burashnikov E, Springer M, Wu Y, Varro A, Pfeiffer R, Koopmann TT, Cordeiro JM, Guerchicoff A, Pollevick GD, Antzelevitch C.

Circ Cardiovasc Genet. 2009 Jun;2(3):270-8. doi: 10.1161/CIRCGENETICS.108.829192. Epub 2009 Apr 21.

PMID:
20031595
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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.

PMID:
23840796
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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-Martínez 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.

PMID:
22155597
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Investigations of the Navβ1b sodium channel subunit in human ventricle; functional characterization of the H162P Brugada syndrome mutant.

Yuan L, Koivumäki JT, Liang B, Lorentzen LG, Tang C, Andersen MN, Svendsen JH, Tfelt-Hansen J, Maleckar M, Schmitt N, Olesen MS, Jespersen T.

Am J Physiol Heart Circ Physiol. 2014 Apr 15;306(8):H1204-12. doi: 10.1152/ajpheart.00405.2013. Epub 2014 Feb 21.

PMID:
24561865
[PubMed - indexed for MEDLINE]
7.

The genetic basis of Brugada syndrome: a mutation update.

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

Hum Mutat. 2009 Sep;30(9):1256-66. doi: 10.1002/humu.21066. Review.

PMID:
19606473
[PubMed - indexed for MEDLINE]
8.

Novel SCN5A mutations in two families with "Brugada-like" ST elevation in the inferior leads and conduction disturbances.

Maury P, Moreau A, Hidden-Lucet F, Leenhardt A, Fressart V, Berthet M, Denjoy I, Bennamar N, Rollin A, Cardin C, Guicheney P, Chahine M.

J Interv Card Electrophysiol. 2013 Aug;37(2):131-40. doi: 10.1007/s10840-013-9805-7. Epub 2013 Apr 24.

PMID:
23612926
[PubMed - indexed for MEDLINE]
9.

[Novel SCN5A gene mutations associated with Brugada syndrome: V95I, A1649V and delF1617].

Liang P, Liu WL, Hu DY, Li CL, Tao WH, Li L.

Zhonghua Xin Xue Guan Bing Za Zhi. 2006 Jul;34(7):616-9. Chinese.

PMID:
17081365
[PubMed - indexed for MEDLINE]
10.

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
11.

A novel microsatellite polymorphism of sodium channel beta1-subunit gene (SCN1B) may underlie abnormal cardiac excitation manifested by coved-type ST-elevation compatible with Brugada syndrome in Japanese.

Ogawa R, Kishi R, Takagi A, Sakaue I, Takahashi H, Matsumoto N, Masuhara K, Nakazawa K, Kobayashi S, Miyake F, Echizen H.

Int J Clin Pharmacol Ther. 2010 Feb;48(2):109-19.

PMID:
20137763
[PubMed - indexed for MEDLINE]
12.

Characterization of a novel Nav1.5 channel mutation, A551T, associated with Brugada syndrome.

Chiang KC, Lai LP, Shieh RC.

J Biomed Sci. 2009 Aug 25;16:76. doi: 10.1186/1423-0127-16-76.

PMID:
19706159
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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.

PMID:
20226894
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Loss of function associated with novel mutations of the SCN5A gene in patients with Brugada syndrome.

Baroudi G, Napolitano C, Priori SG, Del Bufalo A, Chahine M.

Can J Cardiol. 2004 Mar 15;20(4):425-30.

PMID:
15057319
[PubMed - indexed for MEDLINE]
15.

Subepicardial phase 0 block and discontinuous transmural conduction underlie right precordial ST-segment elevation by a SCN5A loss-of-function mutation.

Bébarová M, O'Hara T, Geelen JL, Jongbloed RJ, Timmermans C, Arens YH, Rodriguez LM, Rudy Y, Volders PG.

Am J Physiol Heart Circ Physiol. 2008 Jul;295(1):H48-58. doi: 10.1152/ajpheart.91495.2007. Epub 2008 May 2.

PMID:
18456723
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

[Doubts of the cardiologist regarding an electrocardiogram presenting QRS V1-V2 complexes with positive terminal wave and ST segment elevation. Consensus Conference promoted by the Italian Cardiology Society].

Oreto G, Corrado D, Delise P, Fedele F, Gaita F, Gentile F, Giustetto C, Michelucci A, Padeletti L, Priori S.

G Ital Cardiol (Rome). 2010 Nov;11(11 Suppl 2):3S-22S. Italian.

PMID:
21361048
[PubMed - indexed for MEDLINE]
17.

Mutation-specific effects of lidocaine in Brugada syndrome.

Clancy CE, Wehrens XH.

Int J Cardiol. 2007 Oct 18;121(3):249-52. Epub 2007 Aug 29.

PMID:
17761312
[PubMed - indexed for MEDLINE]
18.

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.

PMID:
19666841
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

A novel mutation in the SCN5A gene is associated with Brugada syndrome.

Shin DJ, Kim E, Park SB, Jang WC, Bae Y, Han J, Jang Y, Joung B, Lee MH, Kim SS, Huang H, Chahine M, Yoon SK.

Life Sci. 2007 Jan 30;80(8):716-24. Epub 2006 Dec 1.

PMID:
17141278
[PubMed - indexed for MEDLINE]
20.

A nonsense SCN5A mutation associated with Brugada-type electrocardiogram and intraventricular conduction defects.

Samani K, Ai T, Towbin JA, Brugada R, Shuraih M, Xi Y, Wu G, Cheng J, Vatta M.

Pacing Clin Electrophysiol. 2009 Sep;32(9):1231-6. doi: 10.1111/j.1540-8159.2009.02470.x.

PMID:
19719504
[PubMed - indexed for MEDLINE]
Free PMC Article

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