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Items: 1 to 20 of 126

1.

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
2.

Low incidence of sudden cardiac death in a Swedish Y111C type 1 long-QT syndrome population.

Winbo A, Diamant UB, Stattin EL, Jensen SM, Rydberg A.

Circ Cardiovasc Genet. 2009 Dec;2(6):558-64. doi: 10.1161/CIRCGENETICS.108.825547. Epub 2009 Sep 14.

3.

Effective long-term control of cardiac events with beta-blockers in a family with a common LQT1 mutation.

Wedekind H, Schwarz M, Hauenschild S, Djonlagic H, Haverkamp W, Breithardt G, Wülfing T, Pongs O, Isbrandt D, Schulze-Bahr E.

Clin Genet. 2004 Mar;65(3):233-41.

PMID:
14756674
4.

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
5.

Mutation site-specific differences in arrhythmic risk and sensitivity to sympathetic stimulation in the LQT1 form of congenital long QT syndrome: multicenter study in Japan.

Shimizu W, Horie M, Ohno S, Takenaka K, Yamaguchi M, Shimizu M, Washizuka T, Aizawa Y, Nakamura K, Ohe T, Aiba T, Miyamoto Y, Yoshimasa Y, Towbin JA, Priori SG, Kamakura S.

J Am Coll Cardiol. 2004 Jul 7;44(1):117-25.

6.

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
7.

In silico cardiac risk assessment in patients with long QT syndrome: type 1: clinical predictability of cardiac models.

Hoefen R, Reumann M, Goldenberg I, Moss AJ, O-Uchi J, Gu Y, McNitt S, Zareba W, Jons C, Kanters JK, Platonov PG, Shimizu W, Wilde AA, Rice JJ, Lopes CM.

J Am Coll Cardiol. 2012 Nov 20;60(21):2182-91. doi: 10.1016/j.jacc.2012.07.053.

8.

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
9.

The common long-QT syndrome mutation KCNQ1/A341V causes unusually severe clinical manifestations in patients with different ethnic backgrounds: toward a mutation-specific risk stratification.

Crotti L, Spazzolini C, Schwartz PJ, Shimizu W, Denjoy I, Schulze-Bahr E, Zaklyazminskaya EV, Swan H, Ackerman MJ, Moss AJ, Wilde AA, Horie M, Brink PA, Insolia R, De Ferrari GM, Crimi G.

Circulation. 2007 Nov 20;116(21):2366-75. Epub 2007 Nov 5.

10.

A founder mutation of the potassium channel KCNQ1 in long QT syndrome: implications for estimation of disease prevalence and molecular diagnostics.

Piippo K, Swan H, Pasternack M, Chapman H, Paavonen K, Viitasalo M, Toivonen L, Kontula K.

J Am Coll Cardiol. 2001 Feb;37(2):562-8.

11.

Mutations in cytoplasmic loops of the KCNQ1 channel and the risk of life-threatening events: implications for mutation-specific response to β-blocker therapy in type 1 long-QT syndrome.

Barsheshet A, Goldenberg I, O-Uchi J, Moss AJ, Jons C, Shimizu W, Wilde AA, McNitt S, Peterson DR, Zareba W, Robinson JL, Ackerman MJ, Cypress M, Gray DA, Hofman N, Kanters JK, Kaufman ES, Platonov PG, Qi M, Towbin JA, Vincent GM, Lopes CM.

Circulation. 2012 Apr 24;125(16):1988-96. doi: 10.1161/CIRCULATIONAHA.111.048041. Epub 2012 Mar 28.

12.

Does pregnancy increase cardiac risk for LQT1 patients with the KCNQ1-A341V mutation?

Heradien MJ, Goosen A, Crotti L, Durrheim G, Corfield V, Brink PA, Schwartz PJ.

J Am Coll Cardiol. 2006 Oct 3;48(7):1410-5. Epub 2006 Sep 14.

13.

Stop-codon and C-terminal nonsense mutations are associated with a lower risk of cardiac events in patients with long QT syndrome type 1.

Ruwald MH, Xu Parks X, Moss AJ, Zareba W, Baman J, McNitt S, Kanters JK, Shimizu W, Wilde AA, Jons C, Lopes CM.

Heart Rhythm. 2016 Jan;13(1):122-31. doi: 10.1016/j.hrthm.2015.08.033. Epub 2015 Aug 28.

14.

Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations.

Lupoglazoff JM, Denjoy I, Villain E, Fressart V, Simon F, Bozio A, Berthet M, Benammar N, Hainque B, Guicheney P.

J Am Coll Cardiol. 2004 Mar 3;43(5):826-30.

15.

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.

16.

Mutation location effect on severity of phenotype during exercise testing in type 1 long-QT syndrome: impact of transmembrane and C-loop location.

Laksman ZW, Hamilton RM, Chockalingam P, Ballantyne E, Stephenson EA, Gross GJ, Gula LJ, Klein GJ, Wilde AA, Krahn AD.

J Cardiovasc Electrophysiol. 2013 Sep;24(9):1015-20. doi: 10.1111/jce.12172. Epub 2013 May 20.

PMID:
23691991
17.

Long QT syndrome in adults.

Sauer AJ, Moss AJ, McNitt S, Peterson DR, Zareba W, Robinson JL, Qi M, Goldenberg I, Hobbs JB, Ackerman MJ, Benhorin J, Hall WJ, Kaufman ES, Locati EH, Napolitano C, Priori SG, Schwartz PJ, Towbin JA, Vincent GM, Zhang L.

J Am Coll Cardiol. 2007 Jan 23;49(3):329-37. Epub 2007 Jan 4.

18.

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
19.

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
20.

The G314S KCNQ1 mutation exerts a dominant-negative effect on expression of KCNQ1 channels in oocytes.

Li W, Du R, Wang QF, Tian L, Yang JG, Song ZF.

Biochem Biophys Res Commun. 2009 May 29;383(2):206-9. doi: 10.1016/j.bbrc.2009.03.160. Epub 2009 Apr 5.

PMID:
19348785

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