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Items: 1 to 20 of 202

1.

Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6).

Templin C, Ghadri JR, Rougier JS, Baumer A, Kaplan V, Albesa M, Sticht H, Rauch A, Puleo C, Hu D, Barajas-Martinez H, Antzelevitch C, Lüscher TF, Abriel H, Duru F.

Eur Heart J. 2011 May;32(9):1077-88. doi: 10.1093/eurheartj/ehr076. Epub 2011 Mar 7.

2.

Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death.

Antzelevitch C, Pollevick GD, Cordeiro JM, Casis O, Sanguinetti MC, Aizawa Y, Guerchicoff A, Pfeiffer R, Oliva A, Wollnik B, Gelber P, Bonaros EP Jr, Burashnikov E, Wu Y, Sargent JD, Schickel S, Oberheiden R, Bhatia A, Hsu LF, Haïssaguerre M, Schimpf R, Borggrefe M, Wolpert C.

Circulation. 2007 Jan 30;115(4):442-9. Epub 2007 Jan 15.

3.

Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death.

Burashnikov E, Pfeiffer R, Barajas-Martinez H, Delpón E, Hu D, Desai M, Borggrefe M, Häissaguerre M, Kanter R, Pollevick GD, Guerchicoff A, Laiño R, Marieb M, Nademanee K, Nam GB, Robles R, Schimpf R, Stapleton DD, Viskin S, Winters S, Wolpert C, Zimmern S, Veltmann C, Antzelevitch C.

Heart Rhythm. 2010 Dec;7(12):1872-82. doi: 10.1016/j.hrthm.2010.08.026. Epub 2010 Oct 14.

4.

A novel gain-of-function KCNJ2 mutation associated with short-QT syndrome impairs inward rectification of Kir2.1 currents.

Hattori T, Makiyama T, Akao M, Ehara E, Ohno S, Iguchi M, Nishio Y, Sasaki K, Itoh H, Yokode M, Kita T, Horie M, Kimura T.

Cardiovasc Res. 2012 Mar 15;93(4):666-73. doi: 10.1093/cvr/cvr329. Epub 2011 Dec 8.

PMID:
22155372
5.

A novel mutation in the KCNH2 gene associated with short QT syndrome.

Sun Y, Quan XQ, Fromme S, Cox RH, Zhang P, Zhang L, Guo D, Guo J, Patel C, Kowey PR, Yan GX.

J Mol Cell Cardiol. 2011 Mar;50(3):433-41. doi: 10.1016/j.yjmcc.2010.11.017. Epub 2010 Dec 3.

PMID:
21130771
6.

Hallmarks of the channelopathies associated with L-type calcium channels: a focus on the Timothy mutations in Ca(v)1.2 channels.

Bidaud I, Lory P.

Biochimie. 2011 Dec;93(12):2080-6. doi: 10.1016/j.biochi.2011.05.015. Epub 2011 May 31. Review.

PMID:
21664226
7.

Functional characterization of the L-type Ca2+ channel Cav1.4alpha1 from mouse retina.

Baumann L, Gerstner A, Zong X, Biel M, Wahl-Schott C.

Invest Ophthalmol Vis Sci. 2004 Feb;45(2):708-13.

PMID:
14744918
8.

The alpha(2)delta subunit augments functional expression and modifies the pharmacology of Ca(V)1.3 L-type channels.

Andrade A, Sandoval A, González-Ramírez R, Lipscombe D, Campbell KP, Felix R.

Cell Calcium. 2009 Oct;46(4):282-92. doi: 10.1016/j.ceca.2009.08.006. Epub 2009 Sep 30.

PMID:
19796812
9.

Unique modulation of L-type Ca2+ channels by short auxiliary beta1d subunit present in cardiac muscle.

Cohen RM, Foell JD, Balijepalli RC, Shah V, Hell JW, Kamp TJ.

Am J Physiol Heart Circ Physiol. 2005 May;288(5):H2363-74. Epub 2004 Dec 22.

10.

Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy.

Edvardson S, Oz S, Abulhijaa FA, Taher FB, Shaag A, Zenvirt S, Dascal N, Elpeleg O.

J Med Genet. 2013 Feb;50(2):118-23. doi: 10.1136/jmedgenet-2012-101223.

PMID:
23339110
11.

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.

12.

The N terminus of a schistosome beta subunit regulates inactivation and current density of a Cav2 channel.

Salvador-Recatalà V, Greenberg RM.

J Biol Chem. 2010 Nov 12;285(46):35878-88. doi: 10.1074/jbc.M110.144725. Epub 2010 Sep 7.

13.

Loss of calcium channels in the cerebellum of the ataxic and epileptic stargazer mutant mouse.

Leitch B, Shevtsova O, Guévremont D, Williams J.

Brain Res. 2009 Jul 7;1279:156-67. doi: 10.1016/j.brainres.2009.04.051. Epub 2009 May 5.

PMID:
19422811
14.

Inhibition of recombinant N-type and native high voltage-gated neuronal Ca2+ channels by AdGABA: mechanism of action studies.

Martínez-Hernández E, Sandoval A, González-Ramírez R, Zoidis G, Felix R.

Toxicol Appl Pharmacol. 2011 Feb 1;250(3):270-7. doi: 10.1016/j.taap.2010.10.030. Epub 2010 Nov 6.

PMID:
21059371
15.
16.

Voltage-dependent calcium channels.

Lacinová L.

Gen Physiol Biophys. 2005 Jun;24 Suppl 1:1-78. Review.

17.

Dominant-negative I(Ks) suppression by KCNQ1-deltaF339 potassium channels linked to Romano-Ward syndrome.

Thomas D, Wimmer AB, Karle CA, Licka M, Alter M, Khalil M, Ulmer HE, Kathöfer S, Kiehn J, Katus HA, Schoels W, Koenen M, Zehelein J.

Cardiovasc Res. 2005 Aug 15;67(3):487-97.

PMID:
15950200
18.

Transgenic simulation of human heart failure-like L-type Ca2+-channels: implications for fibrosis and heart rate in mice.

Beetz N, Hein L, Meszaros J, Gilsbach R, Barreto F, Meissner M, Hoppe UC, Schwartz A, Herzig S, Matthes J.

Cardiovasc Res. 2009 Dec 1;84(3):396-406. doi: 10.1093/cvr/cvp251. Epub 2009 Jul 20.

19.

Functional coupling of Rab3-interacting molecule 1 (RIM1) and L-type Ca2+ channels in insulin release.

Gandini MA, Sandoval A, González-Ramírez R, Mori Y, de Waard M, Felix R.

J Biol Chem. 2011 May 6;286(18):15757-65. doi: 10.1074/jbc.M110.187757. Epub 2011 Mar 14.

20.

Arachidonic acid inhibition of L-type calcium (CaV1.3b) channels varies with accessory CaVbeta subunits.

Roberts-Crowley ML, Rittenhouse AR.

J Gen Physiol. 2009 Apr;133(4):387-403. doi: 10.1085/jgp.200810047.

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