PMC Articles for MedGen (Select 83309) - PMC

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

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Select item 102286124.

Clinical, electrocardiographic, and echocardiographic parameters associated with the development of pacing and implantable cardioverter-defibrillator indication in patients with transthyretin amyloid cardiomyopathy

Yusei Kawahara, Hisanori Kanazawa, Seiji Takashio, Yuichiro Tsuruta, Hitoshi Sumi, Takuya Kiyama, Shozo Kaneko, Miwa Ito, Tadashi Hoshiyama, Kyoko Hirakawa, Masanobu Ishii, Noriaki Tabata, Kenshi Yamanaga, Koichiro Fujisue, Shinsuke Hanatani, Daisuke Sueta, Yuichiro Arima, Satoshi Araki, Hiroki Usuku, Taishi Nakamura, Eiichiro Yamamoto, Hirofumi Soejima, Kenichi Matsushita, Hiroaki Kawano, Kenichi Tsujita

Europace. 2023 May; 25(5): euad105. Published online 2023 Apr 26. doi: 10.1093/europace/euad105

PMCID:: PMC10228612

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Select item 99632635.

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

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Select item 99349906.

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

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Select item 98589307.

Pacing Dynamics Determines the Arrhythmogenic Mechanism of the CPVT2-Causing CASQ2^G112+5X Mutation in a Guinea Pig Ventricular Myocyte Computational Model

Roshan Paudel, Mohsin Saleet Jafri, Aman Ullah

Genes (Basel) 2023 Jan; 14(1): 23. Published online 2022 Dec 22. doi: 10.3390/genes14010023

PMCID:: PMC9858930

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Select item 97247728.

SR-Mitochondria Crosstalk Shapes Ca Signalling to Impact Pathophenotype in Disease Models Marked by Dysregulated Intracellular Ca Release

Brian D Tow, Arpita Deb, Shraddha Neupane, Shuchi M Patel, Meagan Reed, Anna-Beth Loper, Roman A Eliseev, Björn C Knollmann, Sándor Györke, Bin Liu

Cardiovasc Res. 2022 Sep; 118(13): 2819–2832. Published online 2021 Oct 22. doi: 10.1093/cvr/cvab324

PMCID:: PMC9724772

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Select item 97207199.

Molecular Dynamics Simulations of the Cardiac Ryanodine Receptor Type 2 (RyR2) Gating Mechanism

D’Artagnan Greene, Michael Barton, Tyler Luchko, Yohannes Shiferaw

J Phys Chem B. 2022 Dec 1; 126(47): 9790–9809. Published online 2022 Nov 16. doi: 10.1021/acs.jpcb.2c03031

PMCID:: PMC9720719

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Select item 952986710.

Impaired Dynamic Sarcoplasmic Reticulum Ca Buffering in Autosomal Dominant CPVT2

Matthew J. Wleklinski, Dmytro O. Kryshtal, Kyungsoo Kim, Shan S. Parikh, Daniel J. Blackwell, Isabelle Marty, V. Ramesh Iyer, Bjӧrn C. Knollmann

Circ Res. Author manuscript; available in PMC 2023 Sep 30.

Published in final edited form as: Circ Res. 2022 Sep 30; 131(8): 673–686. Published online 2022 Sep 14. doi: 10.1161/CIRCRESAHA.121.320661

PMCID:: PMC9529867

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Select item 948187411.

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

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Select item 945986812.

Cardiac sympathetic denervation in the prevention of genetically mediated life-threatening ventricular arrhythmias

Peter J. Schwartz, Michael J. Ackerman

Eur Heart J. 2022 Jun 7; 43(22): 2096–2102. Published online 2022 Mar 18. doi: 10.1093/eurheartj/ehac134

Correction in:: Eur Heart J. 2022 Sep 1; 43(33): 3181.

PMCID:: PMC9459868

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Select item 943343113.

Z16b, a natural compound from Ganoderma cochlear is a novel RyR2 stabilizer preventing catecholaminergic polymorphic ventricular tachycardia

Jiang-fan Wan, Gang Wang, Fu-ying Qin, Dan-ling Huang, Yan Wang, Ai-ling Su, Hai-ping Zhang, Yang Liu, Shao-yin Zeng, Chao-liang Wei, Yong-xian Cheng, Jie Liu

Acta Pharmacol Sin. 2022 Sep; 43(9): 2340–2350. Published online 2022 Feb 21. doi: 10.1038/s41401-022-00870-1

PMCID:: PMC9433431

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Select item 933424514.

Phospholamban p.Arg14del Cardiomyopathy: A Japanese Case Series

Tomoka Tabata, Yuki Kuramoto, Tomohito Ohtani, Hiroshi Miyawaki, Yohei Miyashita, Fusako Sera, Hidetaka Kioka, Shuichiro Higo, Yoshihiro Asano, Shungo Hikoso, Yasushi Sakata

Intern Med. 2022 Jul 1; 61(13): 1987–1993. Published online 2021 Dec 18. doi: 10.2169/internalmedicine.8594-21

PMCID:: PMC9334245

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Select item 920881915.

How does flecainide impact RyR2 channel function?

Samantha C. Salvage, Christopher L.-H. Huang, James A. Fraser, Angela F. Dulhunty

J Gen Physiol. 2022 Sep 5; 154(9): e202213089. Published online 2022 Jun 17. doi: 10.1085/jgp.202213089

PMCID:: PMC9208819

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Select item 912038516.

Impact of cascade screening for catecholaminergic polymorphic ventricular tachycardia type 1

Keiko Shimamoto, Seiko Ohno, Koichi Kato, Koichiro Takayama, Keiko Sonoda, Megumi Fukuyama, Takeru Makiyama, Satomi Okamura, Koko Asakura, Noriaki Imanishi, Yoshiaki Kato, Heima Sakaguchi, Tsukasa Kamakura, Mitsuru Wada, Kenichiro Yamagata, Kohei Ishibashi, Yuko Inoue, Koji Miyamoto, Satoshi Nagase, Kengo Kusano, Minoru Horie, Takeshi Aiba

Heart. 2022 Jun; 108(11): 840–847. Published online 2022 Feb 8. doi: 10.1136/heartjnl-2021-320220

PMCID:: PMC9120385

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Select item 903734017.

Cytosolic Ca²⁺-dependent Ca²⁺ release activity primarily determines the ER Ca²⁺ level in cells expressing the CPVT-linked mutant RYR2

Nagomi Kurebayashi, Takashi Murayama, Ryosaku Ota, Junji Suzuki, Kazunori Kanemaru, Takuya Kobayashi, Seiko Ohno, Minoru Horie, Masamitsu Iino, Fumiyoshi Yamashita, Takashi Sakurai

J Gen Physiol. 2022 Sep 5; 154(9): e202112869. Published online 2022 Apr 21. doi: 10.1085/jgp.202112869

PMCID:: PMC9037340

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Select item 901858618.

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

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Select item 900940119.

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

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Select item 896869720.

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

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