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Items: 1 to 20 of 325

1.

Characterization of a novel mutation in the cardiac ryanodine receptor that results in catecholaminergic polymorphic ventricular tachycardia.

Jiang D, Jones PP, Davis DR, Gow R, Green MS, Birnie DH, Chen SR, Gollob MH.

Channels (Austin). 2010 Jul-Aug;4(4):302-10. Epub 2010 Jul 14.

2.
3.

The CPVT-associated RyR2 mutation G230C enhances store overload-induced Ca2+ release and destabilizes the N-terminal domains.

Liu Y, Kimlicka L, Hiess F, Tian X, Wang R, Zhang L, Jones PP, Van Petegem F, Chen SR.

Biochem J. 2013 Aug 15;454(1):123-31. doi: 10.1042/BJ20130594.

PMID:
23746327
4.

RyR2 mutations linked to ventricular tachycardia and sudden death reduce the threshold for store-overload-induced Ca2+ release (SOICR).

Jiang D, Xiao B, Yang D, Wang R, Choi P, Zhang L, Cheng H, Chen SR.

Proc Natl Acad Sci U S A. 2004 Aug 31;101(35):13062-7. Epub 2004 Aug 20.

5.

S4153R is a gain-of-function mutation in the cardiac Ca(2+) release channel ryanodine receptor associated with catecholaminergic polymorphic ventricular tachycardia and paroxysmal atrial fibrillation.

Zhabyeyev P, Hiess F, Wang R, Liu Y, Wayne Chen SR, Oudit GY.

Can J Cardiol. 2013 Aug;29(8):993-6. doi: 10.1016/j.cjca.2012.12.019. Epub 2013 Mar 13.

PMID:
23498838
6.

Familial evaluation in catecholaminergic polymorphic ventricular tachycardia: disease penetrance and expression in cardiac ryanodine receptor mutation-carrying relatives.

van der Werf C, Nederend I, Hofman N, van Geloven N, Ebink C, Frohn-Mulder IM, Alings AM, Bosker HA, Bracke FA, van den Heuvel F, Waalewijn RA, Bikker H, van Tintelen JP, Bhuiyan ZA, van den Berg MP, Wilde AA.

Circ Arrhythm Electrophysiol. 2012 Aug 1;5(4):748-56. doi: 10.1161/CIRCEP.112.970517. Epub 2012 Jul 10.

8.

A novel mutation in FKBP12.6 binding region of the human cardiac ryanodine receptor gene (R2401H) in a Japanese patient with catecholaminergic polymorphic ventricular tachycardia.

Aizawa Y, Ueda K, Komura S, Washizuka T, Chinushi M, Inagaki N, Matsumoto Y, Hayashi T, Takahashi M, Nakano N, Yasunami M, Kimura A, Hiraoka M, Aizawa Y.

Int J Cardiol. 2005 Mar 18;99(2):343-5.

PMID:
15749201
9.
10.

Calcium leak through ryanodine receptors leads to atrial fibrillation in 3 mouse models of catecholaminergic polymorphic ventricular tachycardia.

Shan J, Xie W, Betzenhauser M, Reiken S, Chen BX, Wronska A, Marks AR.

Circ Res. 2012 Aug 31;111(6):708-17. doi: 10.1161/CIRCRESAHA.112.273342. Epub 2012 Jul 24.

11.

Sudden death in familial polymorphic ventricular tachycardia associated with calcium release channel (ryanodine receptor) leak.

Lehnart SE, Wehrens XH, Laitinen PJ, Reiken SR, Deng SX, Cheng Z, Landry DW, Kontula K, Swan H, Marks AR.

Circulation. 2004 Jun 29;109(25):3208-14. Epub 2004 Jun 14.

12.

Arrhythmogenesis in catecholaminergic polymorphic ventricular tachycardia: insights from a RyR2 R4496C knock-in mouse model.

Liu N, Colombi B, Memmi M, Zissimopoulos S, Rizzi N, Negri S, Imbriani M, Napolitano C, Lai FA, Priori SG.

Circ Res. 2006 Aug 4;99(3):292-8. Epub 2006 Jul 6.

13.

Genetic characterization of familial CPVT after 30 years.

Beery TA, Shah MJ, Benson DW.

Biol Res Nurs. 2009 Jul;11(1):66-72. doi: 10.1177/1099800409333369. Epub 2009 Apr 26.

PMID:
19398417
14.

Catecholaminergic polymorphic ventricular tachycardia: recent mechanistic insights.

Kontula K, Laitinen PJ, Lehtonen A, Toivonen L, Viitasalo M, Swan H.

Cardiovasc Res. 2005 Aug 15;67(3):379-87. Review.

PMID:
15913575
15.

Clinical and molecular characterization of a cardiac ryanodine receptor founder mutation causing catecholaminergic polymorphic ventricular tachycardia.

Wangüemert F, Bosch Calero C, Pérez C, Campuzano O, Beltran-Alvarez P, Scornik FS, Iglesias A, Berne P, Allegue C, Ruiz Hernandez PM, Brugada J, Pérez GJ, Brugada R.

Heart Rhythm. 2015 Jul;12(7):1636-43. doi: 10.1016/j.hrthm.2015.03.033. Epub 2015 Mar 23.

PMID:
25814417
16.

Loss of luminal Ca2+ activation in the cardiac ryanodine receptor is associated with ventricular fibrillation and sudden death.

Jiang D, Chen W, Wang R, Zhang L, Chen SR.

Proc Natl Acad Sci U S A. 2007 Nov 13;104(46):18309-14. Epub 2007 Nov 1.

17.

Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia.

Priori SG, Napolitano C, Memmi M, Colombi B, Drago F, Gasparini M, DeSimone L, Coltorti F, Bloise R, Keegan R, Cruz Filho FE, Vignati G, Benatar A, DeLogu A.

Circulation. 2002 Jul 2;106(1):69-74.

19.

Removal of FKBP12.6 does not alter the conductance and activation of the cardiac ryanodine receptor or the susceptibility to stress-induced ventricular arrhythmias.

Xiao J, Tian X, Jones PP, Bolstad J, Kong H, Wang R, Zhang L, Duff HJ, Gillis AM, Fleischer S, Kotlikoff M, Copello JA, Chen SR.

J Biol Chem. 2007 Nov 30;282(48):34828-38. Epub 2007 Oct 5.

20.

Search for cardiac calcium cycling gene mutations in familial ventricular arrhythmias resembling catecholaminergic polymorphic ventricular tachycardia.

Marjamaa A, Laitinen-Forsblom P, Lahtinen AM, Viitasalo M, Toivonen L, Kontula K, Swan H.

BMC Med Genet. 2009 Feb 12;10:12. doi: 10.1186/1471-2350-10-12.

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