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Items: 1 to 20 of 142

1.

The β1-subunit of Na(v)1.5 cardiac sodium channel is required for a dominant negative effect through α-α interaction.

Mercier A, Clément R, Harnois T, Bourmeyster N, Faivre JF, Findlay I, Chahine M, Bois P, Chatelier A.

PLoS One. 2012;7(11):e48690. doi: 10.1371/journal.pone.0048690. Epub 2012 Nov 1.

2.

Dominant-negative effect of SCN5A N-terminal mutations through the interaction of Na(v)1.5 α-subunits.

Clatot J, Ziyadeh-Isleem A, Maugenre S, Denjoy I, Liu H, Dilanian G, Hatem SN, Deschênes I, Coulombe A, Guicheney P, Neyroud N.

Cardiovasc Res. 2012 Oct 1;96(1):53-63. doi: 10.1093/cvr/cvs211. Epub 2012 Jun 27.

3.

A novel missense mutation, I890T, in the pore region of cardiac sodium channel causes Brugada syndrome.

Tarradas A, Selga E, Beltran-Alvarez P, Pérez-Serra A, Riuró H, Picó F, Iglesias A, Campuzano O, Castro-Urda V, Fernández-Lozano I, Pérez GJ, Scornik FS, Brugada R.

PLoS One. 2013;8(1):e53220. doi: 10.1371/journal.pone.0053220. Epub 2013 Jan 7.

4.

MOG1: a new susceptibility gene for Brugada syndrome.

Kattygnarath D, Maugenre S, Neyroud N, Balse E, Ichai C, Denjoy I, Dilanian G, Martins RP, Fressart V, Berthet M, Schott JJ, Leenhardt A, Probst V, Le Marec H, Hainque B, Coulombe A, Hatem SN, Guicheney P.

Circ Cardiovasc Genet. 2011 Jun;4(3):261-8. doi: 10.1161/CIRCGENETICS.110.959130. Epub 2011 Mar 29.

5.

De Novo Mutation in the SCN5A Gene Associated with Brugada Syndrome.

Wang L, Meng X, Yuchi Z, Zhao Z, Xu D, Fedida D, Wang Z, Huang C.

Cell Physiol Biochem. 2015;36(6):2250-62. doi: 10.1159/000430189. Epub 2015 Jul 24.

PMID:
26279430
6.

Brugada syndrome disease phenotype explained in apparently benign sodium channel mutations.

Hoshi M, Du XX, Shinlapawittayatorn K, Liu H, Chai S, Wan X, Ficker E, Deschênes I.

Circ Cardiovasc Genet. 2014 Apr;7(2):123-31. doi: 10.1161/CIRCGENETICS.113.000292. Epub 2014 Feb 26.

7.

p.D1690N Nav1.5 rescues p.G1748D mutation gating defects in a compound heterozygous Brugada syndrome patient.

Núñez L, Barana A, Amorós I, de la Fuente MG, Dolz-Gaitón P, Gómez R, Rodríguez-García I, Mosquera I, Monserrat L, Delpón E, Caballero R, Castro-Beiras A, Tamargo J.

Heart Rhythm. 2013 Feb;10(2):264-72. doi: 10.1016/j.hrthm.2012.10.025. Epub 2012 Oct 18.

PMID:
23085483
8.

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.

9.

Electrophysiological and trafficking defects of the SCN5A T353I mutation in Brugada syndrome are rescued by alpha-allocryptopine.

Zhang J, Chen Y, Yang J, Xu B, Wen Y, Xiang G, Wei G, Zhu C, Xing Y, Li Y.

Eur J Pharmacol. 2015 Jan 5;746:333-43. doi: 10.1016/j.ejphar.2014.09.028. Epub 2014 Sep 23.

PMID:
25261036
10.

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.

11.

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.

12.

Nav1.5 channels can reach the plasma membrane through distinct N-glycosylation states.

Mercier A, Clément R, Harnois T, Bourmeyster N, Bois P, Chatelier A.

Biochim Biophys Acta. 2015 Jun;1850(6):1215-23. doi: 10.1016/j.bbagen.2015.02.009. Epub 2015 Feb 23.

PMID:
25721215
13.

Electrophysiological characteristics of a SCN5A voltage sensors mutation R1629Q associated with Brugada syndrome.

Zeng Z, Zhou J, Hou Y, Liang X, Zhang Z, Xu X, Xie Q, Li W, Huang Z.

PLoS One. 2013 Oct 22;8(10):e78382. doi: 10.1371/journal.pone.0078382. eCollection 2013.

14.

Characterization and mechanisms of action of novel NaV1.5 channel mutations associated with Brugada syndrome.

Calloe K, Refaat MM, Grubb S, Wojciak J, Campagna J, Thomsen NM, Nussbaum RL, Scheinman MM, Schmitt N.

Circ Arrhythm Electrophysiol. 2013 Feb;6(1):177-84. doi: 10.1161/CIRCEP.112.974220.

15.

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
16.

A novel strategy using cardiac sodium channel polymorphic fragments to rescue trafficking-deficient SCN5A mutations.

Shinlapawittayatorn K, Dudash LA, Du XX, Heller L, Poelzing S, Ficker E, Deschênes I.

Circ Cardiovasc Genet. 2011 Oct;4(5):500-9. doi: 10.1161/CIRCGENETICS.111.960633. Epub 2011 Aug 12.

17.

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.

18.

Myotonic dystrophy type 1 mimics and exacerbates Brugada phenotype induced by Nav1.5 sodium channel loss-of-function mutation.

Pambrun T, Mercier A, Chatelier A, Patri S, Schott JJ, Le Scouarnec S, Chahine M, Degand B, Bois P.

Heart Rhythm. 2014 Aug;11(8):1393-400. doi: 10.1016/j.hrthm.2014.04.026. Epub 2014 Apr 21.

PMID:
24768612
19.

MOG1 rescues defective trafficking of Na(v)1.5 mutations in Brugada syndrome and sick sinus syndrome.

Chakrabarti S, Wu X, Yang Z, Wu L, Yong SL, Zhang C, Hu K, Wang QK, Chen Q.

Circ Arrhythm Electrophysiol. 2013 Apr;6(2):392-401. doi: 10.1161/CIRCEP.111.000206. Epub 2013 Feb 18.

20.

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
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