PMC Links for Books (Select 1471096) - PMC

Select item 93472091.

European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases

Arthur A. M. Wilde, Christopher Semsarian, Manlio F. Márquez, Alireza Sepehri Shamloo, Michael J. Ackerman, Euan A. Ashley, Back Sternick Eduardo, Héctor Barajas‐Martinez, Elijah R. Behr, Connie R. Bezzina, Jeroen Breckpot, Philippe Charron, Priya Chockalingam, Lia Crotti, Michael H. Gollob, Steven Lubitz, Naomasa Makita, Seiko Ohno, Martín Ortiz‐Genga, Luciana Sacilotto, Eric Schulze‐Bahr, Wataru Shimizu, Nona Sotoodehnia, Rafik Tadros, James S. Ware, David S. Winlaw, Elizabeth S. Kaufman, Takeshi Aiba, Andreas Bollmann, Jong‐Il Choi, Aarti Dalal, Francisco Darrieux, John Giudicessi, Mariana Guerchicoff, Kui Hong, Andrew D. Krahn, Ciorsti Mac Intyre, Judith A. Mackall, Lluís Mont, Carlo Napolitano, Pablo Ochoa Juan, Petr Peichl, Alexandre C. Pereira, Peter J. Schwartz, Jon Skinner, Christoph Stellbrink, Jacob Tfelt‐Hansen, Thomas Deneke

J Arrhythm. 2022 Aug; 38(4): 491–553. Published online 2022 May 31. doi: 10.1002/joa3.12717

PMCID:: PMC9347209

Article PDF–6.9M

Select item 93144842.

Variation among DNA banking consent forms: points for clinicians to bank on

Samuel J. Huang, Laura M. Amendola, Darci L. Sternen

J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3

PMCID:: PMC9314484

Article PDF–776K

Select item 91107323.

TECRL deficiency results in aberrant mitochondrial function in cardiomyocytes

Cuilan Hou, Xunwei Jiang, Han Zhang, Junmin Zheng, Qingzhu Qiu, Yongwei Zhang, Xiaomin Sun, Meng Xu, Alex Chia Yu Chang, Lijian Xie, Tingting Xiao

Commun Biol. 2022; 5: 470. Published online 2022 May 16. doi: 10.1038/s42003-022-03414-9

PMCID:: PMC9110732

Article PDF–6.7M

Select item 89686974.

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

Article

Select item 89173565.

CPVT-associated calmodulin variants N53I and A102V dysregulate Ca²⁺ signalling via different mechanisms

Ohm Prakash, Marie Held, Liam F. McCormick, Nitika Gupta, Lu-Yun Lian, Svetlana Antonyuk, Lee P. Haynes, N. Lowri Thomas, Nordine Helassa

J Cell Sci. 2022 Jan 15; 135(2): jcs258796. Published online 2022 Jan 18. doi: 10.1242/jcs.258796

PMCID:: PMC8917356

Article

Select item 80629586.

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

Article PDF–1.8M

Select item 74972897.

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Article PDF–2.5M

Select item 67487478.

Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry

Lia Crotti, Carla Spazzolini, David J Tester, Alice Ghidoni, Alban-Elouen Baruteau, Britt-Maria Beckmann, Elijah R Behr, Jeffrey S Bennett, Connie R Bezzina, Zahurul A Bhuiyan, Alpay Celiker, Marina Cerrone, Federica Dagradi, Gaetano M De Ferrari, Susan P Etheridge, Meena Fatah, Pablo Garcia-Pavia, Saleh Al-Ghamdi, Robert M Hamilton, Zuhair N Al-Hassnan, Minoru Horie, Juan Jimenez-Jaimez, Ronald J Kanter, Juan P Kaski, Maria-Christina Kotta, Najim Lahrouchi, Naomasa Makita, Gabrielle Norrish, Hans H Odland, Seiko Ohno, John Papagiannis, Gianfranco Parati, Nicole Sekarski, Kristian Tveten, Matteo Vatta, Gregory Webster, Arthur A M Wilde, Julianne Wojciak, Alfred L George, Jr, Michael J Ackerman, Peter J Schwartz

Eur Heart J. 2019 Sep 14; 40(35): 2964–2975. Published online 2019 Jun 6. doi: 10.1093/eurheartj/ehz311

PMCID:: PMC6748747

Article PDF–968K

Select item 62973759.

Calmodulinopathy: Functional Effects of CALM Mutations and Their Relationship With Clinical Phenotypes

Beatrice Badone, Carlotta Ronchi, Maria-Christina Kotta, Luca Sala, Alice Ghidoni, Lia Crotti, Antonio Zaza

Front Cardiovasc Med. 2018; 5: 176. Published online 2018 Dec 11. doi: 10.3389/fcvm.2018.00176

PMCID:: PMC6297375

Article PDF–1.1M

Select item 605914110.

The clinical and genetic spectrum of catecholaminergic polymorphic ventricular tachycardia: findings from an international multicentre registry

Thomas M Roston, Zhiguang Yuchi, Prince J Kannankeril, Julie Hathaway, Jeffrey M Vinocur, Susan P Etheridge, James E Potts, Kathleen R Maginot, Jack C Salerno, Mitchell I Cohen, Robert M Hamilton, Andreas Pflaumer, Saira Mohammed, Lynn Kimlicka, Ronald J Kanter, Martin J LaPage, Kathryn K Collins, Roman A Gebauer, Joel D Temple, Anjan S Batra, Christopher Erickson, Maria Miszczak-Knecht, Peter Kubuš, Yaniv Bar-Cohen, Michal Kantoch, Vincent C Thomas, Gabriele Hessling, Chris Anderson, Ming-Lon Young, Sally H J Choi, Michel Cabrera Ortega, Yung R Lau, Christopher L Johnsrude, Anne Fournier, Filip Van Petegem, Shubhayan Sanatani

Europace. 2018 Mar; 20(3): 541–547. Published online 2017 Jan 31. doi: 10.1093/europace/euw389

PMCID:: PMC6059141

Article PDF–421K

Select item 516713011.

TECRL, a new life‐threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT

Harsha D Devalla, Roselle Gélinas, Elhadi H Aburawi, Abdelaziz Beqqali, Philippe Goyette, Christian Freund, Marie‐A Chaix, Rafik Tadros, Hui Jiang, Antony Le Béchec, Jantine J Monshouwer‐Kloots, Tom Zwetsloot, Georgios Kosmidis, Frédéric Latour, Azadeh Alikashani, Maaike Hoekstra, Jurg Schlaepfer, Christine L Mummery, Brian Stevenson, Zoltan Kutalik, Antoine AF de Vries, Léna Rivard, Arthur AM Wilde, Mario Talajic, Arie O Verkerk, Lihadh Al‐Gazali, John D Rioux, Zahurul A Bhuiyan, Robert Passier

EMBO Mol Med. 2016 Dec; 8(12): 1390–1408. Published online 2016 Oct 24. doi: 10.15252/emmm.201505719

PMCID:: PMC5167130

Article PDF–2.8M

Select item 498833312.

Novel CPVT-Associated Calmodulin Mutation in CALM3 (CALM3-A103V) Activates Arrhythmogenic Ca Waves and Sparks

Nieves Gomez-Hurtado, Nicole J. Boczek, Dmytro O. Kryshtal, Christopher N. Johnson, Jennifer Sun, Florentin R. Nitu, Razvan L. Cornea, Walter J. Chazin, Melissa L. Calvert, David J. Tester, Michael J. Ackerman, Bjorn C. Knollmann

Circ Arrhythm Electrophysiol. Author manuscript; available in PMC 2017 Aug 1.

Published in final edited form as: Circ Arrhythm Electrophysiol. 2016 Aug; 9(8): 10.1161/CIRCEP.116.004161 e004161. doi: 10.1161/CIRCEP.116.004161

PMCID:: PMC4988333

Article PDF–681K

Select item 473192513.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Article PDF–1.6M

Select item 454475314.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Article PDF–960K

Select item 446320415.

Calcium release channel RyR2 regulates insulin release and glucose homeostasis

Gaetano Santulli, Gennaro Pagano, Celestino Sardu, Wenjun Xie, Steven Reiken, Salvatore Luca D’Ascia, Michele Cannone, Nicola Marziliano, Bruno Trimarco, Theresa A. Guise, Alain Lacampagne, Andrew R. Marks

J Clin Invest. 2015 May 1; 125(5): 1968–1978. Published online 2015 Apr 6. doi: 10.1172/JCI79273

Correction in:: J Clin Invest. 2015 Nov 2; 125(11): 4316.

PMCID:: PMC4463204

Article PDF–3.7M

Select item 383476816.

Calmodulin Mutations Associated with Recurrent Cardiac Arrest in Infants

Lia Crotti, Christopher N. Johnson, Elisabeth Graf, Gaetano M. De Ferrari, Bettina F. Cuneo, Marc Ovadia, John Papagiannis, Michael D. Feldkamp, Subodh G. Rathi, Jennifer D. Kunic, Matteo Pedrazzini, Thomas Wieland, Peter Lichtner, Britt-Maria Beckmann, Travis Clark, Christian Shaffer, D. Woodrow Benson, Stefan Kääb, Thomas Meitinger, Tim M. Strom, Walter J. Chazin, Peter J. Schwartz, Alfred L. George, Jr.

Circulation. Author manuscript; available in PMC 2014 Mar 5.

Published in final edited form as: Circulation. 2013 Mar 5; 127(9): 10.1161/CIRCULATIONAHA.112.001216. Published online 2013 Feb 6. doi: 10.1161/CIRCULATIONAHA.112.001216

PMCID:: PMC3834768

Article PDF–2.9M

Select item 380910617.

Effects of Flecainide on Exercise-Induced Ventricular Arrhythmias and Recurrences in Genotype-Negative Patients with Catecholaminergic Polymorphic Ventricular Tachycardia

Hiroshi Watanabe, Christian van der Werf, Ferran Roses-Noguer, Arnon Adler, Naokata Sumitomo, Christian Veltmann, Raphael Rosso, Zahurul A. Bhuiyan, Hennie Bikker, Prince J. Kannankeril, Minoru Horie, Tohru Minamino, Sami Viskin, Björn C. Knollmann, Jan Till, Arthur A.M. Wilde

Heart Rhythm. Author manuscript; available in PMC 2013 Oct 28.

Published in final edited form as: Heart Rhythm. 2013 Apr; 10(4): 10.1016/j.hrthm.2012.12.035. Published online 2012 Dec 31. doi: 10.1016/j.hrthm.2012.12.035

PMCID:: PMC3809106

Article PDF–160K

Select item 333254818.

A mechanism for sudden infant death syndrome (SIDS): Stress-induced leak via ryanodine receptors

David J. Tester, Miroslav Dura, Elisa Carturan, Steven Reiken, Anetta Wronska, Andrew R. Marks, Michael J. Ackerman

Heart Rhythm. Author manuscript; available in PMC 2012 Apr 23.

Published in final edited form as: Heart Rhythm. 2007 Jun; 4(6): 733–739. Published online 2007 Mar 3. doi: 10.1016/j.hrthm.2007.02.026

PMCID:: PMC3332548

Article PDF–1.2M

Select item 308508319.

Inherited dysfunction of Sarcoplasmic Reticulum Ca²⁺ Handling and Arrhythmogenesis

Silvia G Priori, S. R. Wayne Chen

Circ Res. Author manuscript; available in PMC 2012 Apr 1.

Published in final edited form as: Circ Res. 2011 Apr 1; 108(7): 871–883. doi: 10.1161/CIRCRESAHA.110.226845

PMCID:: PMC3085083

Article PDF–1.2M

Select item 173595520.

Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients

A Postma, I Denjoy, J Kamblock, M Alders, J Lupoglazoff, G Vaksmann, L Dubosq-Bidot, P Sebillon, M Mannens, P Guicheney, A Wilde

J Med Genet. 2005 Nov; 42(11): 863–870. doi: 10.1136/jmg.2004.028993

PMCID:: PMC1735955

Summary PDF–332K

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