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Items: 1 to 20 of 78

1.
Clinical and genetic profiles of chinese pediatric patients with catecholaminergic polymorphic ventricular tachycardia
Yu Yan, Liting Tang, Xiaoqin Wang, Kaiyu Zhou, Fan Hu, Hongyu Duan, Xiaoliang Liu, Yimin Hua, Chuan Wang
Orphanet J Rare Dis. 2023; 18: 380. Published online 2023 Dec 5. doi: 10.1186/s13023-023-02991-0
PMCID:
PMC10696677
AbstractArticlePDF–1.3M
2.
Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry
Lia Crotti, Carla Spazzolini, Mette Nyegaard, Michael T Overgaard, Maria-Christina Kotta, Federica Dagradi, Luca Sala, Takeshi Aiba, Mark D Ayers, Anwar Baban, Julien Barc, Cheyenne M Beach, Elijah R Behr, J Martijn Bos, Marina Cerrone, Peter Covi, Bettina Cuneo, Isabelle Denjoy, Birgit Donner, Adrienne Elbert, Håkan Eliasson, Susan P Etheridge, Megumi Fukuyama, Francesca Girolami, Robert Hamilton, Minoru Horie, Maria Iascone, Juan Jiménez Jaimez, Henrik Kjærulf Jensen, Prince J Kannankeril, Juan P Kaski, Naomasa Makita, Carmen Muñoz-Esparza, Hans H Odland, Seiko Ohno, John Papagiannis, Alessandra Pia Porretta, Christopher Prandstetter, Vincent Probst, Tomas Robyns, Eric Rosenthal, Ferran Rosés-Noguer, Nicole Sekarski, Anoop Singh, Georgia Spentzou, Fridrike Stute, Jacob Tfelt-Hansen, Jan Till, Kathryn E Tobert, Jeffrey M Vinocur, Gregory Webster, Arthur A M Wilde, Cordula M Wolf, Michael J Ackerman, Peter J Schwartz
Eur Heart J. 2023 Sep 14; 44(35): 3357–3370. Published online 2023 Aug 2. doi: 10.1093/eurheartj/ehad418
PMCID:
PMC10499544
AbstractArticlePDF–1.7M
3.
Molecular stratification of arrhythmogenic mechanisms in the Andersen Tawil syndrome
Ana Isabel Moreno-Manuel, Lilian K Gutiérrez, María Linarejos Vera-Pedrosa, Francisco Miguel Cruz, Francisco José Bermúdez-Jiménez, Isabel Martínez-Carrascoso, Patricia Sánchez-Pérez, Álvaro Macías, José Jalife
Cardiovasc Res. 2023 Apr; 119(4): 919–932. Published online 2022 Jul 27. doi: 10.1093/cvr/cvac118
PMCID:
PMC10153646
AbstractArticlePDF–1.0M
4.
Calcium Handling in Inherited Cardiac Diseases: A Focus on Catecholaminergic Polymorphic Ventricular Tachycardia and Hypertrophic Cardiomyopathy
Stéphane Zaffran, Lilia Kraoua, Hager Jaouadi
Int J Mol Sci. 2023 Feb; 24(4): 3365. Published online 2023 Feb 8. doi: 10.3390/ijms24043365
PMCID:
PMC9963263
AbstractArticlePDF–366K
5.
Repeatability of ventricular arrhythmia characteristics on the exercise-stress test in RYR2-mediated catecholaminergic polymorphic ventricular tachycardia
Puck J Peltenburg, Sanjeev N J Pultoo, Kathryn E Tobert, J Martijn Bos, Krystien V V Lieve, Michael Tanck, Sally-Ann B Clur, Nico A Blom, Michael J Ackerman, Arthur A M Wilde, Christian van der Werf
Europace. 2023 Feb; 25(2): 619–626. Published online 2022 Nov 12. doi: 10.1093/europace/euac177
PMCID:
PMC9934990
AbstractArticlePDF–634K
6.
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
AbstractArticlePDF–5.1M
7.
Calmodulin Mutations in Human Disease
John W. Hussey, Worawan B. Limpitikul, Ivy E. Dick
Channels (Austin) 2023; 17(1): 2165278. Published online 2023 Jan 11. doi: 10.1080/19336950.2023.2165278
PMCID:
PMC9839377
AbstractArticlePDF–2.8M
8.
Characterization of N-terminal RYR2 variants outside CPVT1 hotspot regions using patient iPSCs reveal pathogenesis and therapeutic potential
Marissa J. Stutzman, C.S. John Kim, David J. Tester, Samantha K. Hamrick, Steven M. Dotzler, John R. Giudicessi, Marco C. Miotto, Jeevan B. GC, Joachim Frank, Andrew R. Marks, Michael J. Ackerman
Stem Cell Reports. 2022 Sep 13; 17(9): 2023–2036. Published online 2022 Aug 4. doi: 10.1016/j.stemcr.2022.07.002
PMCID:
PMC9481874
AbstractArticlePDF–2.4M
9.
Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing
Lisa M. Dellefave-Castillo, Allison L. Cirino, Thomas E. Callis, Edward D. Esplin, John Garcia, Kathryn E. Hatchell, Britt Johnson, Ana Morales, Ellen Regalado, Susan Rojahn, Matteo Vatta, Robert L. Nussbaum, Elizabeth M. McNally
JAMA Cardiol. 2022 Sep; 7(9): 966–974. Published online 2022 Aug 10. doi: 10.1001/jamacardio.2022.2455
PMCID:
PMC9366660
AbstractArticle
10.
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
AbstractArticlePDF–1.4M
11.
Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death
Roddy Walsh, Arnon Adler, Ahmad S Amin, Emanuela Abiusi, Melanie Care, Hennie Bikker, Simona Amenta, Harriet Feilotter, Eline A Nannenberg, Francesco Mazzarotto, Valentina Trevisan, John Garcia, Ray E Hershberger, Marco V Perez, Amy C Sturm, James S Ware, Wojciech Zareba, Valeria Novelli, Arthur A M Wilde, Michael H Gollob
Eur Heart J. 2022 Apr 14; 43(15): 1500–1510. Published online 2021 Sep 24. doi: 10.1093/eurheartj/ehab687
PMCID:
PMC9009401
AbstractArticlePDF–1.4M
12.
Outcomes of Patients With Catecholaminergic Polymorphic Ventricular Tachycardia Treated With β-Blockers
Andrea Mazzanti, Deni Kukavica, Alessandro Trancuccio, Mirella Memmi, Raffaella Bloise, Patrick Gambelli, Maira Marino, Martín Ortíz-Genga, Massimo Morini, Nicola Monteforte, Umberto Giordano, Roberto Keegan, Luca Tomasi, Aristides Anastasakis, Andrew M. Davis, Wataru Shimizu, Nico A. Blom, Demetrio Julián Santiago, Carlo Napolitano, Lorenzo Monserrat, Silvia G. Priori
JAMA Cardiol. 2022 May; 7(5): 504–512. Published online 2022 Mar 30. doi: 10.1001/jamacardio.2022.0219
Correction in:
JAMA Cardiol. 2022 Nov; 7(11): 1177.
PMCID:
PMC8968697
AbstractArticle
13.
Ca2+-dependent modulation of voltage-gated myocyte sodium channels
Samantha C. Salvage, Zaki F. Habib, Hugh R. Matthews, Antony P. Jackson, Christopher L.-H. Huang
Biochem Soc Trans. 2021 Nov 1; 49(5): 1941–1961. Published online 2021 Oct 13. doi: 10.1042/BST20200604
PMCID:
PMC8589445
AbstractArticlePDF–8.9M
14.
Clinical and Functional Characterization of Ryanodine Receptor 2 Variants Implicated in Calcium-Release Deficiency Syndrome
Thomas M. Roston, Jinhong Wei, Wenting Guo, Yanhui Li, Xiaowei Zhong, Ruiwu Wang, John Paul Estillore, Puck J. Peltenburg, Ferran Rosés I. Noguer, Jan Till, Lee L. Eckhardt, Kate M. Orland, Robert Hamilton, Martin J. LaPage, Andrew D. Krahn, Rafik Tadros, Jeffrey M. Vinocur, Dania Kallas, Sonia Franciosi, Jason D. Roberts, Arthur A. M. Wilde, Henrik K. Jensen, Shubhayan Sanatani, S. R. Wayne Chen
JAMA Cardiol. 2022 Jan; 7(1): 1–9. Published online 2021 Nov 3. doi: 10.1001/jamacardio.2021.4458
PMCID:
PMC8567190
AbstractArticle
15.
International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework
Cynthia A. James, Jan D.H. Jongbloed, Ray E. Hershberger, Ana Morales, Daniel P. Judge, Petros Syrris, Kalliopi Pilichou, Argelia Medeiros Domingo, Brittney Murray, Julia Cadrin-Tourigny, Ronald Lekanne Deprez, Rudy Celeghin, Alexandros Protonotarios, Babken Asatryan, Emily Brown, Elizabeth Jordan, Jennifer McGlaughon, Courtney Thaxton, C. Lisa Kurtz, J. Peter van Tintelen
Circ Genom Precis Med. 2021 Jun; 14(3): e003273. Published online 2021 Apr 8. doi: 10.1161/CIRCGEN.120.003273
PMCID:
PMC8205996
AbstractArticlePDF–934K
16.
Novel RyR2 Mutation (G3118R) Is Associated With Autosomal Recessive Ventricular Fibrillation and Sudden Death: Clinical, Functional, and Computational Analysis
Ayelet Shauer, Oded Shor, Jinhong Wei, Yair Elitzur, Nataly Kucherenko, Ruiwu Wang, S. R. Wayne Chen, Yulia Einav, David Luria
J Am Heart Assoc. 2021 Mar 16; 10(6): e017128. Published online 2021 Mar 9. doi: 10.1161/JAHA.120.017128
PMCID:
PMC8174198
AbstractArticlePDF–1.4M
17.
Identification of loss-of-function RyR2 mutations associated with idiopathic ventricular fibrillation and sudden death
Xiaowei Zhong, Wenting Guo, Jinhong Wei, Yijun Tang, Yingjie Liu, Joe Z. Zhang, Vern Hsen Tan, Lin Zhang, Ruiwu Wang, Peter P. Jones, Carlo Napolitano, Silvia G. Priori, S.R. Wayne Chen
Biosci Rep. 2021 Apr 30; 41(4): BSR20210209. Published online 2021 Apr 22. doi: 10.1042/BSR20210209
PMCID:
PMC8062958
AbstractArticlePDF–1.8M
18.
Infanticide vs. inherited cardiac arrhythmias
Malene Brohus, Todor Arsov, David A Wallace, Helene Halkjær Jensen, Mette Nyegaard, Lia Crotti, Marcin Adamski, Yafei Zhang, Matt A Field, Vicki Athanasopoulos, Isabelle Baró, Bárbara B Ribeiro de Oliveira-Mendes, Richard Redon, Flavien Charpentier, Hariharan Raju, Deborah DiSilvestre, Jinhong Wei, Ruiwu Wang, Haloom Rafehi, Antony Kaspi, Melanie Bahlo, Ivy E Dick, Sui Rong Wayne Chen, Matthew C Cook, Carola G Vinuesa, Michael Toft Overgaard, Peter J Schwartz
Europace. 2021 Mar; 23(3): 441–450. Published online 2020 Nov 17. doi: 10.1093/europace/euaa272
Correction in:
Europace. 2023 Mar; 25(3): 1198.
PMCID:
PMC7947592
AbstractArticlePDF–3.2M
19.
Molecular and tissue mechanisms of catecholaminergic polymorphic ventricular tachycardia
Matthew J. Wleklinski, Prince J. Kannankeril, Bjӧrn C. Knollmann
J Physiol. Author manuscript; available in PMC 2020 Nov 28.
Published in final edited form as: J Physiol. 2020 Jul; 598(14): 2817–2834. Published online 2020 Apr 27. doi: 10.1113/JP276757
PMCID:
PMC7699301
AbstractArticlePDF–1.6M
20.
Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4
Gulcin Akinci, Haluk Topaloglu, Baris Akinci, Huseyin Onay, Cem Karadeniz, Yakup Ergul, Tevfik Demir, Emin Evren Ozcan, Canan Altay, Tahir Atik, Abhimanyu Garg
Eur J Med Genet. Author manuscript; available in PMC 2020 Nov 2.
Published in final edited form as: Eur J Med Genet. 2016 Jun; 59(6-7): 320–324. Published online 2016 May 7. doi: 10.1016/j.ejmg.2016.05.001
PMCID:
PMC7605892
AbstractArticlePDF–527K

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