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Items: 1 to 20 of 150

1.
An LQTS6 MiRP1 Mutation Suppresses Pacemaker Current and is Associated with Sinus Bradycardia
Pooja A. Nawathe, Yelena Kryukova, Ronit V. Oren, Raffaella Milanesi, Colleen E. Clancy, Jonathan T. Lu, Arthur J. Moss, Dario DiFrancesco, Richard B. Robinson
J Cardiovasc Electrophysiol. Author manuscript; available in PMC 2014 Sep 1.
Published in final edited form as: J Cardiovasc Electrophysiol. 2013 Sep; 24(9): 1021–1027. Published online 2013 Apr 30. doi: 10.1111/jce.12163
PMCID:
PMC4059362
ArticlePubReaderPDF–1.1MCite
2.
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
ArticlePubReaderPDF–774KCite
3.
A Neonate with Susceptibility to Long QT Syndrome Type 6 who Presented with Ventricular Fibrillation and Sudden Unexpected Infant Death
Charles W. Sauer, Krishelle L. Marc-Aurele
Am J Case Rep. 2016; 17: 544–548. Published online 2016 Jul 28. doi: 10.12659/AJCR.898327
PMCID:
PMC4968432
ArticlePubReaderPDF–945KCite
4.
Mechanisms of fever-induced QT prolongation and torsades de pointes in patients with KCNH2 mutation
Keisuke Usuda, Kenshi Hayashi, Tadashi Nakajima, Yasutaka Kurata, Shihe Cui, Takashi Kusayama, Toyonobu Tsuda, Hayato Tada, Takeshi Kato, Kenji Sakata, Soichiro Usui, Noboru Fujino, Yoshihiro Tanaka, Yoshiaki Kaneko, Masahiko Kurabayashi, Shoichi Tange, Takekatsu Saito, Kunio Ohta, Masakazu Yamagishi, Masayuki Takamura
Europace. 2023 Jun; 25(6): euad161. Published online 2023 Jun 30. doi: 10.1093/europace/euad161
PMCID:
PMC10310978
ArticlePubReaderPDF–2.4MCite
5.
Beneficial effects of chronic mexiletine treatment in a human model of SCN5A overlap syndrome
Giovanna Nasilli, Loukia Yiangou, Chiara Palandri, Elisabetta Cerbai, Richard P Davis, Arie O Verkerk, Simona Casini, Carol Ann Remme
Europace. 2023 Jun; 25(6): euad154. Published online 2023 Jun 27. doi: 10.1093/europace/euad154
PMCID:
PMC10299896
ArticlePubReaderPDF–1018KCite
6.
A Common East Asian aldehyde dehydrogenase 2*2 variant promotes ventricular arrhythmia with chronic light-to-moderate alcohol use in mice
An-Sheng Lee, Yen-Ling Sung, Szu-Hua Pan, Kuo-Tzu Sung, Cheng-Huang Su, Shiao-Li Ding, Ying-Jui Lu, Chin-Ling Hsieh, Yun-Fang Chen, Chuan-Chuan Liu, Wei-Yu Chen, Xuan-Ren Chen, Fa-Po Chung, Shih-Wei Wang, Che-Hong Chen, Daria Mochly-Rosen, Chung-Lieh Hung, Hung-I Yeh, Shien-Fong Lin
Commun Biol. 2023; 6: 610. Published online 2023 Jun 6. doi: 10.1038/s42003-023-04985-x
PMCID:
PMC10244406
ArticlePubReaderPDF–8.0MCite
7.
NaV1.6 dysregulation within myocardial T-tubules by D96V calmodulin enhances proarrhythmic sodium and calcium mishandling
Mikhail Tarasov, Heather L. Struckman, Yusuf Olgar, Alec Miller, Mustafa Demirtas, Vladimir Bogdanov, Radmila Terentyeva, Andrew M. Soltisz, Xiaolei Meng, Dennison Min, Galina Sakuta, Izabella Dunlap, Antonia D. Duran, Mark P. Foster, Jonathan P. Davis, Dmitry Terentyev, Sándor Györke, Rengasayee Veeraraghavan, Przemysław B. Radwański
J Clin Invest. 2023 Apr 3; 133(7): e152071. Published online 2023 Apr 3. doi: 10.1172/JCI152071
PMCID:
PMC10065082
ArticlePubReaderPDF–5.1MCite
8.
Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance
Jaël S Copier, Marianne Bootsma, Chai A Ng, Arthur A M Wilde, Robin A Bertels, Hennie Bikker, Imke Christiaans, Saskia N van der Crabben, Janna A Hol, Tamara T Koopmann, Jeroen Knijnenburg, Aafke A J Lommerse, Jasper J van der Smagt, Connie R Bezzina, Jamie I Vandenberg, Arie O Verkerk, Daniela Q C M Barge-Schaapveld, Elisabeth M Lodder
Hum Mol Genet. 2023 Apr 1; 32(7): 1072–1082. Published online 2022 Oct 21. doi: 10.1093/hmg/ddac261
PMCID:
PMC10026256
ArticlePubReaderPDF–1.7MCite
9.
Association of NOS1AP Genetic Variants With QT Interval Duration in Families From the Diabetes Heart Study
Allison B. Lehtinen, Christopher Newton-Cheh, Julie T. Ziegler, Carl D. Langefeld, Barry I. Freedman, Kurt R. Daniel, David M. Herrington, Donald W. Bowden
Diabetes. Author manuscript; available in PMC 2023 Feb 27.
Published in final edited form as: Diabetes. 2008 Apr; 57(4): 1108–1114. Published online 2008 Jan 30. doi: 10.2337/db07-1365
PMCID:
PMC9969196
ArticlePubReaderPDF–336KCite
10.
To Modify or Not to Modify: Allele‐Specific Effects of 3'UTR‐KCNQ1 Single Nucleotide Polymorphisms on Clinical Phenotype in a Long QT 1 Founder Population Segregating a Dominant‐Negative Mutation
Annika Winbo, Ulla‐Britt Diamant, Johan Persson, Steen M. Jensen, Annika Rydberg
J Am Heart Assoc. 2022 Sep 20; 11(18): e025981. Published online 2022 Sep 14. doi: 10.1161/JAHA.122.025981
PMCID:
PMC9683681
ArticlePubReaderPDF–1.8MCite
11.
Molecular Approach of Hereditary Arrhythmias, Long QT Syndrome, and Arrhythmogenic Right Ventricular Cardiomyopathy
Hanife Saat, İbrahim Şahin, Haktan Bağış Erdem, Senem Özgür, Semiha Terlemez Tokgöz, Taha Bahsi
Anatol J Cardiol. 2022 Jun; 26(6): 460–465. Published online 2022 Jun 1. doi: 10.5152/AnatolJCardiol.2022.1324
PMCID:
PMC9361120
ArticlePubReaderPDF–1.4MCite
12.
The genetics of drug-induced QT prolongation: evaluating the evidence for pharmacodynamic variants
Ana I Lopez-Medina, Choudhary Anwar A Chahal, Jasmine A Luzum
Pharmacogenomics. 2022 Jun; 23(9): 543–557. Published online 2022 Jun 14. doi: 10.2217/pgs-2022-0027
PMCID:
PMC9245591
ArticlePubReaderPDF–693KCite
13.
Clinical Spectrum of SCN5A Channelopathy in Children with Primary Electrical Disease and Structurally Normal Hearts
Teresa Villarreal-Molina, Gabriela Paola García-Ordóñez, Álvaro E. Reyes-Quintero, Mayra Domínguez-Pérez, Leonor Jacobo-Albavera, Santiago Nava, Alessandra Carnevale, Argelia Medeiros-Domingo, Pedro Iturralde
Genes (Basel) 2022 Jan; 13(1): 16. Published online 2021 Dec 22. doi: 10.3390/genes13010016
PMCID:
PMC8774384
ArticlePubReaderPDF–8.9MCite
14.
Investigation of PAS and CNBH domain interactions in hERG channels and effects of long-QT syndrome-causing mutations with surface plasmon resonance
Stephanie M. Soohoo, Purushottam B. Tiwari, Yuichiro J. Suzuki, Tinatin I. Brelidze
J Biol Chem. 2022 Jan; 298(1): 101433. Published online 2021 Nov 19. doi: 10.1016/j.jbc.2021.101433
PMCID:
PMC8693265
ArticlePubReaderPDF–6.1MCite
15.
Recurrent Pregnancy Loss and Concealed Long‐QT Syndrome
Laura Kasak, Kristiina Rull, Tao Yang, Dan M. Roden, Maris Laan
J Am Heart Assoc. 2021 Sep 7; 10(17): e021236. Published online 2021 Aug 16. doi: 10.1161/JAHA.121.021236
PMCID:
PMC8649249
ArticlePubReaderPDF–5.6MCite
16.
Expanding the phenotype of CACNA1C mutation disorders
Lindsey Gakenheimer‐Smith, Lindsay Meyers, Derek Lundahl, Shaji C. Menon, T. Jared Bunch, Briana L. Sawyer, Martin Tristani‐Firouzi, Susan P. Etheridge
Mol Genet Genomic Med. 2021 Jun; 9(6): e1673. Published online 2021 Apr 1. doi: 10.1002/mgg3.1673
PMCID:
PMC8222832
ArticlePubReaderPDF–507KCite
17.
KCNQ1 and Long QT Syndrome in 1/45 Amish: The Road From Identification to Implementation of Culturally Appropriate Precision Medicine
Elizabeth A. Streeten, Vincent Y. See, Linda B.J. Jeng, Kristin A. Maloney, Megan Lynch, Andrew M. Glazer, Tao Yang, Dan Roden, Toni I. Pollin, Melanie Daue, Kathleen A. Ryan, Cristopher Van Hout, Nehal Gosalia, Claudia Gonzaga-Jauregui, Aris Economides, James A. Perry, Jeffrey O’Connell, Amber Beitelshees, Kathleen Palmer, Braxton D. Mitchell, Alan R Shuldiner
Circ Genom Precis Med. 2020 Dec; 13(6): e003133. Published online 2020 Nov 3. doi: 10.1161/CIRCGEN.120.003133
PMCID:
PMC7748050
ArticlePubReaderPDF–1.4MCite
18.
Home Treatment of Older People with Symptomatic SARS-CoV-2 Infection (COVID-19): A structured Summary of a Study Protocol for a Multi-Arm Multi-Stage (MAMS) Randomized Trial to Evaluate the Efficacy and Tolerability of Several Experimental Treatments to Reduce the Risk of Hospitalisation or Death in outpatients aged 65 years or older (COVERAGE trial)
Alexandre Duvignaud, Edouard Lhomme, Thierry Pistone, Racha Onaisi, Rémi Sitta, Valérie Journot, Duc Nguyen, Nathan Peiffer-Smadja, Antoine Crémer, Stéphane Bouchet, Thomas Darnaud, Delphine Poitrenaud, Lionel Piroth, Christine Binquet, Jean-François Michel, Benjamin Lefèvre, David Lebeaux, Josselin Lebel, Julie Dupouy, Caroline Roussillon, Anne Gimbert, Linda Wittkop, Rodolphe Thiébaut, Joanna Orne-Gliemann, Jean-Philippe Joseph, Laura Richert, Xavier Anglaret, Denis Malvy, the COVERAGE study group
Trials. 2020; 21: 846. Published online 2020 Oct 13. doi: 10.1186/s13063-020-04619-1
PMCID:
PMC7552584
ArticlePubReaderPDF–238KCite
19.
Diagnostic Performance of Various QTc Interval Formulas in a Large Family with Long QT Syndrome Type 3: Bazett's Formula Not So Bad After All …
Jan Brouwer, Maarten P. Van Den Berg, Diederick E. Grobbee, Jaap Haaksma, Arthur A.M. Wilde
Ann Noninvasive Electrocardiol. 2003 Oct; 8(4): 269–274. Published online 2003 Sep 30. doi: 10.1046/j.1542-474X.2003.08402.x
PMCID:
PMC7485365
ArticlePubReaderPDF–181KCite
20.
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
ArticlePubReaderPDF–2.7MCite

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