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Items: 1 to 20 of 126

1.
Mechanisms of ventricular arrhythmogenesis in mice following targeted disruption of KCNE1 modelling long QT syndrome 5
Glyn Thomas, Matthew J Killeen, Iman S Gurung, Parvez Hakim, Richard Balasubramaniam, Catharine A Goddard, Andrew A Grace, Christopher L-H Huang
J Physiol. 2007 Jan 1; 578(Pt 1): 99–114. Published online 2006 Nov 9. doi: 10.1113/jphysiol.2006.118133
PMCID:
PMC2075126
AbstractArticlePDF–435K
2.
Transgenic LQT2, LQT5, and LQT2‐5 rabbit models with decreased repolarisation reserve for prediction of drug‐induced ventricular arrhythmias
Tibor Hornyik, Alessandro Castiglione, Gerlind Franke, Stefanie Perez‐Feliz, Péter Major, László Hiripi, Gideon Koren, Zsuzsanna Bősze, András Varró, Manfred Zehender, Michael Brunner, Christoph Bode, István Baczkó, Katja E. Odening
Br J Pharmacol. 2020 Aug; 177(16): 3744–3759. Published online 2020 Jun 24. doi: 10.1111/bph.15098
PMCID:
PMC7393202
AbstractArticlePDF–2.7M
3.
Long QT syndrome type 5-Lite: Defining the clinical phenotype associated with the potentially proarrhythmic p.Asp85Asn-KCNE1 common genetic variant
Conor M. Lane, John R. Giudicessi, Dan Ye, David J. Tester, Ram K. Rohatgi, J. Martijn Bos, Michael J. Ackerman
Heart Rhythm. Author manuscript; available in PMC 2019 Mar 6.
Published in final edited form as: Heart Rhythm. 2018 Aug; 15(8): 1223–1230. Published online 2018 Apr 3. doi: 10.1016/j.hrthm.2018.03.038
PMCID:
PMC6402333
AbstractArticlePDF–859K
4.
LQT5 masquerading as LQT2: a dominant negative effect of KCNE1-D85N rare polymorphism on KCNH2 current
Eyal Nof, Hector Barajas-Martinez, Michael Eldar, Janire Urrutia, Gabriel Caceres, Gail Rosenfeld, David Bar-Lev, Micha Feinberg, Elena Burashnikov, Oscar Casis, Dan Hu, Michael Glikson, Charles Antzelevitch
Europace. 2011 Oct; 13(10): 1478–1483. Published online 2011 Jun 28. doi: 10.1093/europace/eur184
PMCID:
PMC3180238
AbstractArticlePDF–273K
5.
Mechanisms of disease pathogenesis in long QT syndrome type 5
Stephen C. Harmer, Andrew J. Wilson, Robert Aldridge, Andrew Tinker
Am J Physiol Cell Physiol. 2010 Feb; 298(2): C263–C273. Published online 2009 Nov 11. doi: 10.1152/ajpcell.00308.2009
PMCID:
PMC2822495
AbstractArticle
6.
Stilbenes and fenamates rescue the loss of I(KS) channel function induced by an LQT5 mutation and other IsK mutants.
I Abitbol, A Peretz, C Lerche, A E Busch, B Attali
EMBO J. 1999 Aug 2; 18(15): 4137–4148. doi: 10.1093/emboj/18.15.4137
PMCID:
PMC1171491
SummaryPDF–646K
7.
Docosahexaenoic acid normalizes QT interval in long QT type 2 transgenic rabbit models in a genotype-specific fashion
Alessandro Castiglione, Tibor Hornyik, Eike M Wülfers, Lucilla Giammarino, Iask Edler, Jessica J Jowais, Marina Rieder, Stefanie Perez-Feliz, Gideon Koren, Zsuzsanna Bősze, András Varró, Manfred Zehender, Michael Brunner, Christoph Bode, Sara I Liin, Hans Peter Larsson, István Baczkó, Katja E Odening
Europace. 2022 Mar; 24(3): 511–522. Published online 2021 Oct 3. doi: 10.1093/europace/euab228
PMCID:
PMC9125797
AbstractArticlePDF–2.0M
8.
An International Multi-Center Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition
Jason D. Roberts, S. Yukiko Asaki, Andrea Mazzanti, J. Martijn Bos, Izabela Tuleta, Alison R. Muir, Lia Crotti, Andrew D. Krahn, Valentina Kutyifa, M. Benjamin Shoemaker, Christopher L. Johnsrude, Takeshi Aiba, Luciana Marcondes, Anwar Baban, Sharmila Udupa, Brynn Dechert, Peter Fischbach, Linda M. Knight, Eric Vittinghoff, Deni Kukavica, Birgit Stallmeyer, John R. Giudicessi, Carla Spazzolini, Keiko Shimamoto, Rafik Tadros, Julia Cadrin-Tourigny, Henry J. Duff, Christopher S. Simpson, Thomas M. Roston, Yanushi D. Wijeyeratne, Imane El Hajjaji, Maisoon D. Yousif, Lorne J. Gula, Peter Leong-Sit, Nikhil Chavali, Andrew P. Landstrom, Gregory M. Marcus, Sven Dittmann, Arthur A. M. Wilde, Elijah R. Behr, Jacob Tfelt-Hansen, Melvin M. Scheinman, Marco V. Perez, Juan Pablo Kaski, Robert M. Gow, Fabrizio Drago, Peter F. Aziz, Dominic J. Abrams, Michael H. Gollob, Jonathan R. Skinner, Wataru Shimizu, Elizabeth S. Kaufman, Dan M. Roden, Wojciech Zareba, Peter J. Schwartz, Eric Schulze-Bahr, Susan P. Etheridge, Silvia G. Priori, Michael J. Ackerman
Circulation. Author manuscript; available in PMC 2021 Feb 11.
Published in final edited form as: Circulation. 2020 Feb 11; 141(6): 429–439. Published online 2020 Jan 16. doi: 10.1161/CIRCULATIONAHA.119.043114
PMCID:
PMC7035205
AbstractArticlePDF–614K
9.
A conserved arginine/lysine-based motif promotes ER export of KCNE1 and KCNE2 to regulate KCNQ1 channel activity
Bin Hu, Wen-Ping Zeng, Xia Li, Umar Al-Sheikh, San-You Chen, Jiuping Ding
Channels (Austin) 2019; 13(1): 483–497. Published online 2019 Nov 3. doi: 10.1080/19336950.2019.1685626
PMCID:
PMC6833972
AbstractArticlePDF–5.4M
10.
QT Adaptation and Intrinsic QT Variability in Congenital Long QT Syndrome
Srikanth Seethala, Prabhpreet Singh, Vladimir Shusterman, Margareth Ribe, Kristina H. Haugaa, Jan Němec
J Am Heart Assoc. 2015 Dec; 4(12): e002395. Published online 2015 Dec 16. doi: 10.1161/JAHA.115.002395
PMCID:
PMC4845278
AbstractArticlePDF–433K
11.
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION® long QT syndrome genetic test
Jamie D. Kapplinger, David J. Tester, Benjamin A. Salisbury, Janet L. Carr, Carole Harris-Kerr, Guido D. Pollevick, PhD, Arthur A. M. Wilde, Michael J. Ackerman
Heart Rhythm. Author manuscript; available in PMC 2011 Mar 8.
Published in final edited form as: Heart Rhythm. 2009 Sep; 6(9): 1297–1303. Published online 2009 Jun 23. doi: 10.1016/j.hrthm.2009.05.021
PMCID:
PMC3049907
AbstractArticlePDF–774K
12.
Functional Interactions between KCNE1 C-Terminus and the KCNQ1 Channel
Jerri Chen, Renjian Zheng, Yonathan F. Melman, Thomas V. McDonald
PLoS One. 2009; 4(4): e5143. Published online 2009 Apr 2. doi: 10.1371/journal.pone.0005143
PMCID:
PMC2659744
AbstractArticlePDF–461K
13.
A novel transgenic rabbit model with reduced repolarization reserve: long QT syndrome caused by a dominant‐negative mutation of the KCNE1 gene
Péter Major, István Baczkó, László Hiripi, Katja E. Odening, Viktor Juhász, Zsófia Kohajda, András Horváth, György Seprényi, Mária Kovács, László Virág, Norbert Jost, János Prorok, Balázs Ördög, Zoltán Doleschall, Stanley Nattel, András Varró, Zsuzsanna Bősze
Br J Pharmacol. 2016 Jun; 173(12): 2046–2061. Published online 2016 May 19. doi: 10.1111/bph.13500
PMCID:
PMC4882500
AbstractArticlePDF–2.0M
14.
Detection of distant relatedness in biobanks for identification of undiagnosed carriers of a Mendelian disease variant: application to Long QT Syndrome
Megan C. Lancaster, Hung-Hsin Chen, M. Benjamin Shoemaker, Matthew R. Fleming, James T. Baker, Grahame Evans, Hannah G. Polikowsky, David C. Samuels, Chad D. Huff, Dan M. Roden, Jennifer E. Below
Version 1. Res Sq. Preprint. 2023 Sep 15. doi: 10.21203/rs.3.rs-3314860/v1
PMCID:
PMC10543295
AbstractArticlePDF–919K
15.
Detection of distant familial relatedness in biobanks for identification of undiagnosed carriers of a Mendelian disease variant: application to Long QT syndrome
Megan C. Lancaster, Hung-Hsin Chen, M. Benjamin Shoemaker, Matthew R. Fleming, James T. Baker, Hannah G. Polikowsky, David C. Samuels, Chad D. Huff, Dan M. Roden, Jennifer E. Below
Version 1. medRxiv. Preprint. 2023 Apr 25. doi: 10.1101/2023.04.19.23288831
PMCID:
PMC10168417
AbstractArticlePDF–625K
16.
A Possible Explanation for the Low Penetrance of Pathogenic KCNE1 Variants in Long QT Syndrome Type 5
Szilvia Déri, Teodóra Hartai, László Virág, Norbert Jost, Alain J. Labro, András Varró, István Baczkó, Stanley Nattel, Balázs Ördög
Pharmaceuticals (Basel) 2022 Dec; 15(12): 1550. Published online 2022 Dec 13. doi: 10.3390/ph15121550
PMCID:
PMC9782992
AbstractArticlePDF–1.9M
17.
Pharmacological rescue of specific long QT variants of KCNQ1/KCNE1 channels
Xinle Zou, Xiaoan Wu, Kevin J. Sampson, Henry M. Colecraft, H. Peter Larsson, Robert S. Kass
Front Physiol. 2022; 13: 902224. Published online 2022 Nov 23. doi: 10.3389/fphys.2022.902224
PMCID:
PMC9726718
AbstractArticlePDF–3.2M
18.
Electrophysiologic Substrate in Congenital Long QT Syndrome: Noninvasive Mapping with Electrocardiographic Imaging (ECGI)
Ramya Vijayakumar, Jennifer N.A. Silva, Kavit A. Desouza, Robert L. Abraham, Maria Strom, Frederic Sacher, George F. Van Hare, Michel Haïssaguerre, Dan M. Roden, Yoram Rudy
Circulation. Author manuscript; available in PMC 2015 Nov 25.
Published in final edited form as: Circulation. 2014 Nov 25; 130(22): 1936–1943. Published online 2014 Oct 7. doi: 10.1161/CIRCULATIONAHA.114.011359
PMCID:
PMC4245321
AbstractArticlePDF–701K
19.
Requirement of subunit expression for cAMP-mediated regulation of a heart potassium channel
Junko Kurokawa, Lei Chen, Robert S. Kass
Proc Natl Acad Sci U S A. 2003 Feb 18; 100(4): 2122–2127. Published online 2003 Feb 3. doi: 10.1073/pnas.0434935100
PMCID:
PMC149969
AbstractArticlePDF–250K
20.
Long QT syndrome‐associated calmodulin variants disrupt the activity of the slowly activating delayed rectifier potassium channel
Liam McCormick, Kirsty Wadmore, Amy Milburn, Nitika Gupta, Rachael Morris, Marie Held, Ohm Prakash, Joseph Carr, Richard Barrett‐Jolley, Caroline Dart, Nordine Helassa
J Physiol. 2023 Sep 1; 601(17): 3739–3764. Published online 2023 Jul 10. doi: 10.1113/JP284994
PMCID:
PMC10952621
AbstractArticlePDF–4.0M

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