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Items: 1 to 20 of 191

1.
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
ArticlePDF–433K
2.
Elucidation of ALG10B as a Novel Long QT Syndrome Susceptibility Gene
Wei Zhou, Dan Ye, David J. Tester, Sahej Bains, John R. Giudicessi, Carla M. Haglund-Turnquist, Kate M. Orland, Craig T. January, Lee L. Eckhardt, Kathleen R. Maginot, Michael J. Ackerman
Circ Genom Precis Med. Author manuscript; available in PMC 2024 Feb 6.
Published in final edited form as: Circ Genom Precis Med. 2023 Apr; 16(2): e003726. Published online 2023 Feb 22. doi: 10.1161/CIRCGEN.122.003726
PMCID:
PMC10844923
ArticlePDF–2.4M
3.
Inherited Arrhythmias in the Pediatric Population: An Updated Overview
Marco Valerio Mariani, Nicola Pierucci, Francesca Fanisio, Domenico Laviola, Giacomo Silvetti, Agostino Piro, Vincenzo Mirco La Fazia, Cristina Chimenti, Marco Rebecchi, Fabrizio Drago, Fabio Miraldi, Andrea Natale, Carmine Dario Vizza, Carlo Lavalle
Medicina (Kaunas) 2024 Jan; 60(1): 94. Published online 2024 Jan 3. doi: 10.3390/medicina60010094
PMCID:
PMC10819657
ArticlePDF–2.7M
4.
Case report of a child with long QT syndrome type 14 caused by CALM1 gene mutation and literature review
Qiqing Sun, Zhenhua Xie, Fangjie Wang, Jun Guo, Xiaochen Yan
Mol Genet Genomic Med. 2024 Jan; 12(1): e2287. Published online 2023 Oct 31. doi: 10.1002/mgg3.2287
PMCID:
PMC10767591
ArticlePDF–3.2M
5.
Pharmacological Screening of Kv7.1 and Kv7.1/KCNE1 Activators as Potential Antiarrhythmic Drugs in the Zebrafish Heart
Alicia De la Cruz, Xiaoan Wu, Quinn C. Rainer, Irene Hiniesto-Iñigo, Marta E. Perez, Isak Edler, Sara I. Liin, H. Peter Larsson
Int J Mol Sci. 2023 Aug; 24(15): 12092. Published online 2023 Jul 28. doi: 10.3390/ijms241512092
PMCID:
PMC10418701
ArticlePDF–3.4M
6.
Precision medicine for long QT syndrome: patient-specific iPSCs take the lead
Yang Yu, Isabelle Deschenes, Ming-Tao Zhao
Expert Rev Mol Med. 2023; 25: e5. Published online 2023 Jan 4. doi: 10.1017/erm.2022.43
PMCID:
PMC10302164
ArticlePDF–536K
7.
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
ArticlePDF–336K
8.
Role of genetic testing in young patients with idiopathic atrioventricular conduction disease
Angelo Auricchio, Andrea Demarchi, Tardu Özkartal, Daniela Campanale, Maria Luce Caputo, Marcello di Valentino, Andrea Menafoglio, Francois Regoli, Marco Facchini, Alessandro Del Bufalo, Pietro Foglia, Nicola Ferrari, Fulvio Bomio, Argelia Medeiros-Domingo, Tiziano Moccetti, Giovanni B Pedrazzini, Catherine Klersy, Giulio Conte
Europace. 2023 Feb; 25(2): 643–650. Published online 2022 Nov 10. doi: 10.1093/europace/euac196
PMCID:
PMC9934995
ArticlePDF–6.0M
9.
The Antidepressant Paroxetine Reduces the Cardiac Sodium Current
Ingmar S. Plijter, Arie O. Verkerk, Ronald Wilders
Int J Mol Sci. 2023 Feb; 24(3): 1904. Published online 2023 Jan 18. doi: 10.3390/ijms24031904
PMCID:
PMC9915920
ArticlePDF–2.2M
10.
Understanding Calmodulin Variants Affecting Calcium-Dependent Inactivation of L-Type Calcium Channels through Whole-Cell Simulation of the Cardiac Ventricular Myocyte
Matthew D. McCoy, Aman Ullah, W. Jonathan Lederer, M. Saleet Jafri
Biomolecules. 2023 Jan; 13(1): 72. Published online 2022 Dec 29. doi: 10.3390/biom13010072
PMCID:
PMC9855640
ArticlePDF–5.1M
11.
Functional Assays Reclassify Suspected Splice-Altering Variants of Uncertain Significance in Mendelian Channelopathies
Matthew J. O’Neill, Yuko Wada, Lynn D. Hall, Devyn W. Mitchell, Andrew M. Glazer, Dan M. Roden
Circ Genom Precis Med. Author manuscript; available in PMC 2023 Dec 1.
Published in final edited form as: Circ Genom Precis Med. 2022 Dec; 15(6): e003782. Published online 2022 Oct 5. doi: 10.1161/CIRCGEN.122.003782
PMCID:
PMC9772980
ArticlePDF–1.4M
12.
When the Gates Swing Open Only: Arrhythmia Mutations That Target the Fast Inactivation Gate of Nav1.5
Tamer M. Gamal El-Din
Cells. 2022 Dec; 11(23): 3714. Published online 2022 Nov 22. doi: 10.3390/cells11233714
PMCID:
PMC9735811
ArticlePDF–1.4M
13.
Targeted deep sequencing analyses of long QT syndrome in a Japanese population
Yuki Nagata, Ryo Watanabe, Christian Eichhorn, Seiko Ohno, Takeshi Aiba, Taisuke Ishikawa, Yukiko Nakano, Yoshiyasu Aizawa, Kenshi Hayashi, Nobuyuki Murakoshi, Tadashi Nakajima, Nobue Yagihara, Hiroyuki Mishima, Takeaki Sudo, Chihiro Higuchi, Atsushi Takahashi, Akihiro Sekine, Takeru Makiyama, Yoshihiro Tanaka, Atsuyuki Watanabe, Motomi Tachibana, Hiroshi Morita, Koh-ichiro Yoshiura, Tatsuhiko Tsunoda, Hiroshi Watanabe, Masahiko Kurabayashi, Akihiko Nogami, Yasuki Kihara, Minoru Horie, Wataru Shimizu, Naomasa Makita, Toshihiro Tanaka
PLoS One. 2022; 17(12): e0277242. Published online 2022 Dec 8. doi: 10.1371/journal.pone.0277242
PMCID:
PMC9731492
ArticlePDF–625K
14.
Prevalence and Phenotypic Burden of Monogenic Arrhythmias Using Integration of Electronic Health Records with Genetics
Navid A. Nafissi, Jawan W. Abdulrahim, Lydia Coulter Kwee, Amanda C. Coniglio, William E. Kraus, Jonathan P. Piccini, James P. Daubert, Albert Y. Sun, Svati H. Shah
Circ Genom Precis Med. Author manuscript; available in PMC 2023 Oct 1.
Published in final edited form as: Circ Genom Precis Med. 2022 Oct; 15(5): e003675. Published online 2022 Sep 22. doi: 10.1161/CIRCGEN.121.003675
PMCID:
PMC9588708
ArticlePDF–641K
15.
Pseudohypoparathyroidism: a diagnosis to consider once a PTH elevation is detected
Ilaria Brambilla, Federico Rossi, Carmelo Pistone, Amelia Licari, Maria De Filippo, Martina Votto, Enrico Tondina, Carmen Guarracino
Acta Biomed. 2022; 93(Suppl 3): e2022194. Published online 2022 Jun 6. doi: 10.23750/abm.v93iS3.13072
PMCID:
PMC9494184
ArticlePDF–199K
16.
Hyperinsulinemic Hypoglycemia Associated with a CaV1.2 Variant with Mixed Gain- and Loss-of-Function Effects
Sebastian Kummer, Susanne Rinné, Gunnar Seemann, Nadine Bachmann, Katherine Timothy, Paul S. Thornton, Frank Pillekamp, Ertan Mayatepek, Carsten Bergmann, Thomas Meissner, Niels Decher
Int J Mol Sci. 2022 Aug; 23(15): 8097. Published online 2022 Jul 22. doi: 10.3390/ijms23158097
PMCID:
PMC9332183
ArticlePDF–2.4M
17.
Novel CACNA1C R511Q mutation, located in domain Ⅰ-Ⅱ linker, causes non-syndromic type-8 long QT syndrome
Tadashi Nakajima, Reika Kawabata-Iwakawa, Shuntaro Tamura, Hiroshi Hasegawa, Takashi Kobari, Hideki Itoh, Minoru Horie, Masahiko Nishiyama, Masahiko Kurabayashi, Yoshiaki Kaneko, Hideki Ishii
PLoS One. 2022; 17(7): e0271796. Published online 2022 Jul 21. doi: 10.1371/journal.pone.0271796
PMCID:
PMC9302756
ArticlePDF–1.5M
18.
Influence of CYP2D6 genetic variation on adverse events with propafenone in the pediatric and young adult population
Sudeep D. Sunthankar, Prince J. Kannankeril, Andrea Gaedigk, Andrew E. Radbill, Frank A. Fish, Sara L. Van Driest
Clin Transl Sci. 2022 Jul; 15(7): 1787–1795. Published online 2022 May 26. doi: 10.1111/cts.13296
PMCID:
PMC9283732
ArticlePDF–359K
19.
Monogenic and Polygenic Contributions to QTc Prolongation in the Population
Victor Nauffal, Valerie N Morrill, Sean J Jurgens, Seung Hoan Choi, Amelia W Hall, Lu-Chen Weng, Jennifer L Halford, Christina Austin-Tse, Christopher M Haggerty, Stephanie L Harris, Eugene K Wong, Alvaro Alonso, Dan E Arking, Emelia J Benjamin, Eric Boerwinkle, Yuan-I Min, Adolfo Correa, Brandon K Fornwalt, Susan R Heckbert, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Charles Kooperberg, Henry J Lin, Ruth JF Loos, Kenneth M Rice, Namrata Gupta, Thomas W Blackwell, Braxton D Mitchell, Alanna C Morrison, Bruce M Psaty, Wendy S Post, Susan Redline, Heidi L Rehm, Stephen S Rich, Jerome I Rotter, Elsayed Z Soliman, Nona Sotoodehnia, Kathryn L Lunetta, Patrick T Ellinor, Steven A Lubitz
Circulation. Author manuscript; available in PMC 2023 May 17.
Published in final edited form as: Circulation. 2022 May 17; 145(20): 1524–1533. Published online 2022 Apr 7. doi: 10.1161/CIRCULATIONAHA.121.057261
PMCID:
PMC9117504
ArticlePDF–1.0M
20.
GENESIS: Gene-specific Machine Learning Models for Variants of Uncertain Significance Found in Catecholaminergic Polymorphic Ventricular Tachycardia and Long QT Syndrome-associated Genes
Rachel L. Draelos, Jordan E. Ezekian, Farica Zhuang, Mary E. Moya-Mendez, Zhushan Zhang, Michael B. Rosamilia, Perathu K.R. Manivannan, Ricardo Henao, Andrew P. Landstrom
Circ Arrhythm Electrophysiol. Author manuscript; available in PMC 2023 Apr 1.
Published in final edited form as: Circ Arrhythm Electrophysiol. 2022 Apr; 15(4): e010326. Published online 2022 Mar 31. doi: 10.1161/CIRCEP.121.010326
PMCID:
PMC9018586
ArticlePDF–1.4M

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