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Items: 1 to 20 of 96

1.

High-risk long QT syndrome mutations in the Kv7.1 (KCNQ1) pore disrupt the molecular basis for rapid K(+) permeation.

Burgess DE, Bartos DC, Reloj AR, Campbell KS, Johnson JN, Tester DJ, Ackerman MJ, Fressart V, Denjoy I, Guicheney P, Moss AJ, Ohno S, Horie M, Delisle BP.

Biochemistry. 2012 Nov 13;51(45):9076-85. doi: 10.1021/bi3009449. Epub 2012 Nov 2.

2.

A KCNQ1 mutation contributes to the concealed type 1 long QT phenotype by limiting the Kv7.1 channel conformational changes associated with protein kinase A phosphorylation.

Bartos DC, Giudicessi JR, Tester DJ, Ackerman MJ, Ohno S, Horie M, Gollob MH, Burgess DE, Delisle BP.

Heart Rhythm. 2014 Mar;11(3):459-68. doi: 10.1016/j.hrthm.2013.11.021. Epub 2013 Nov 21.

3.
4.

R231C mutation in KCNQ1 causes long QT syndrome type 1 and familial atrial fibrillation.

Bartos DC, Duchatelet S, Burgess DE, Klug D, Denjoy I, Peat R, Lupoglazoff JM, Fressart V, Berthet M, Ackerman MJ, January CT, Guicheney P, Delisle BP.

Heart Rhythm. 2011 Jan;8(1):48-55. doi: 10.1016/j.hrthm.2010.09.010. Epub 2010 Sep 17.

5.

Mutations in conserved amino acids in the KCNQ1 channel and risk of cardiac events in type-1 long-QT syndrome.

Jons C, Moss AJ, Lopes CM, McNitt S, Zareba W, Goldenberg I, Qi M, Wilde AA, Shimizu W, Kanters JK, Towbin JA, Ackerman MJ, Robinson JL.

J Cardiovasc Electrophysiol. 2009 Aug;20(8):859-65. doi: 10.1111/j.1540-8167.2009.01455.x. Epub 2009 Mar 13.

PMID:
19490272
6.

LQT1 mutations in KCNQ1 C-terminus assembly domain suppress IKs using different mechanisms.

Aromolaran AS, Subramanyam P, Chang DD, Kobertz WR, Colecraft HM.

Cardiovasc Res. 2014 Dec 1;104(3):501-11. doi: 10.1093/cvr/cvu231. Epub 2014 Oct 24.

7.

Cellular mechanisms underlying the increased disease severity seen for patients with long QT syndrome caused by compound mutations in KCNQ1.

Harmer SC, Mohal JS, Royal AA, McKenna WJ, Lambiase PD, Tinker A.

Biochem J. 2014 Aug 15;462(1):133-42. doi: 10.1042/BJ20140425.

PMID:
24912595
8.

A double-point mutation in the selectivity filter site of the KCNQ1 potassium channel results in a severe phenotype, LQT1, of long QT syndrome.

Ikrar T, Hanawa H, Watanabe H, Okada S, Aizawa Y, Ramadan MM, Komura S, Yamashita F, Chinushi M, Aizawa Y.

J Cardiovasc Electrophysiol. 2008 May;19(5):541-9. doi: 10.1111/j.1540-8167.2007.01076.x. Epub 2008 Feb 4.

PMID:
18266681
9.

Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.

Moss AJ, Shimizu W, Wilde AA, Towbin JA, Zareba W, Robinson JL, Qi M, Vincent GM, Ackerman MJ, Kaufman ES, Hofman N, Seth R, Kamakura S, Miyamoto Y, Goldenberg I, Andrews ML, McNitt S.

Circulation. 2007 May 15;115(19):2481-9. Epub 2007 Apr 30.

10.

Long-QT mutation p.K557E-Kv7.1: dominant-negative suppression of IKs, but preserved cAMP-dependent up-regulation.

Spätjens RL, Bébarová M, Seyen SR, Lentink V, Jongbloed RJ, Arens YH, Heijman J, Volders PG.

Cardiovasc Res. 2014 Oct 1;104(1):216-25. doi: 10.1093/cvr/cvu191. Epub 2014 Aug 18.

PMID:
25139741
11.

Long QT 1 mutation KCNQ1A344V increases local anesthetic sensitivity of the slowly activating delayed rectifier potassium current.

Siebrands CC, Binder S, Eckhoff U, Schmitt N, Friederich P.

Anesthesiology. 2006 Sep;105(3):511-20.

PMID:
16931984
12.

Microscopic mechanisms for long QT syndrome type 1 revealed by single-channel analysis of I(Ks) with S3 domain mutations in KCNQ1.

Eldstrom J, Wang Z, Werry D, Wong N, Fedida D.

Heart Rhythm. 2015 Feb;12(2):386-94. doi: 10.1016/j.hrthm.2014.10.029. Epub 2014 Oct 29.

PMID:
25444851
13.

Impaired ion channel function related to a common KCNQ1 mutation - implications for risk stratification in long QT syndrome 1.

Aidery P, Kisselbach J, Schweizer PA, Becker R, Katus HA, Thomas D.

Gene. 2012 Dec 10;511(1):26-33. doi: 10.1016/j.gene.2012.09.041. Epub 2012 Sep 19.

PMID:
23000022
14.

A new KCNQ1 mutation at the S5 segment that impairs its association with KCNE1 is responsible for short QT syndrome.

Moreno C, Oliveras A, de la Cruz A, Bartolucci C, Muñoz C, Salar E, Gimeno JR, Severi S, Comes N, Felipe A, González T, Lambiase P, Valenzuela C.

Cardiovasc Res. 2015 Sep 1;107(4):613-23. doi: 10.1093/cvr/cvv196. Epub 2015 Jul 13.

PMID:
26168993
15.

Dominant-negative control of cAMP-dependent IKs upregulation in human long-QT syndrome type 1.

Heijman J, Spätjens RL, Seyen SR, Lentink V, Kuijpers HJ, Boulet IR, de Windt LJ, David M, Volders PG.

Circ Res. 2012 Jan 20;110(2):211-9. doi: 10.1161/CIRCRESAHA.111.249482. Epub 2011 Nov 17.

16.

Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome.

Zareba W, Moss AJ, Sheu G, Kaufman ES, Priori S, Vincent GM, Towbin JA, Benhorin J, Schwartz PJ, Napolitano C, Hall WJ, Keating MT, Qi M, Robinson J, Andrews ML; International LQTS Registry, University of Rochester, Rochester, New York.

J Cardiovasc Electrophysiol. 2003 Nov;14(11):1149-53.

PMID:
14678125
17.

Biophysical characterization of KCNQ1 P320 mutations linked to long QT syndrome 1.

Thomas D, Khalil M, Alter M, Schweizer PA, Karle CA, Wimmer AB, Licka M, Katus HA, Koenen M, Ulmer HE, Zehelein J.

J Mol Cell Cardiol. 2010 Jan;48(1):230-7. doi: 10.1016/j.yjmcc.2009.06.009. Epub 2009 Jun 21.

PMID:
19540844
18.

Enhancing the Predictive Power of Mutations in the C-Terminus of the KCNQ1-Encoded Kv7.1 Voltage-Gated Potassium Channel.

Kapplinger JD, Tseng AS, Salisbury BA, Tester DJ, Callis TE, Alders M, Wilde AA, Ackerman MJ.

J Cardiovasc Transl Res. 2015 Apr;8(3):187-97. doi: 10.1007/s12265-015-9622-8. Epub 2015 Apr 9.

19.

Electrophysiological phenotype in the LQTS mutations Y111C and R518X in the KCNQ1 gene.

Diamant UB, Vahedi F, Winbo A, Rydberg A, Stattin EL, Jensen SM, Bergfeldt L.

J Appl Physiol (1985). 2013 Nov;115(10):1423-32. doi: 10.1152/japplphysiol.00665.2013. Epub 2013 Sep 19.

20.

Long QT syndrome: ionic basis and arrhythmia mechanism in long QT syndrome type 1.

Sanguinetti MC.

J Cardiovasc Electrophysiol. 2000 Jun;11(6):710-2.

PMID:
10868746

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