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Items: 1 to 20 of 43

1.
Novel Mutations in the KCND3-Encoded Kv4.3 K+ Channel Associated with Autopsy-Negative Sudden Unexplained Death
John R. Giudicessi, Dan Ye, Chad J. Kritzberger, Vladislav V. Nesterenko, David J. Tester, Charles Antzelevitch, Michael J. Ackerman
Hum Mutat. Author manuscript; available in PMC 2012 Dec 11.
Published in final edited form as: Hum Mutat. 2012 Jun; 33(6): 989–997. Published online 2012 Mar 27. doi: 10.1002/humu.22058
PMCID:
PMC3518919
AbstractArticlePDF–2.9M
2.
Targeted next generation sequencing in a young population with suspected inherited malignant cardiac arrhythmias
Anders Krogh Broendberg, Morten Krogh Christiansen, Jens Cosedis Nielsen, Lisbeth Noerum Pedersen, Henrik Kjaerulf Jensen
Eur J Hum Genet. 2018 Mar; 26(3): 303–313. Published online 2018 Jan 17. doi: 10.1038/s41431-017-0060-8
PMCID:
PMC5838968
AbstractArticlePDF–883K
3.
Age- and strain-related aberrant Ca2+ release is associated with sudden cardiac death in the ACTC E99K mouse model of hypertrophic cardiomyopathy
Christina T. Rowlands, Thomas Owen, Saheed Lawal, Shuangyi Cao, Samata S. Pandey, Hsiang-Yu Yang, Weihua Song, Ross Wilkinson, Anita Alvarez-Laviada, Katja Gehmlich, Steven B. Marston, Kenneth T. MacLeod
Am J Physiol Heart Circ Physiol. 2017 Dec 1; 313(6): H1213–H1226. Published online 2017 Sep 8. doi: 10.1152/ajpheart.00244.2017
PMCID:
PMC5814650
AbstractArticle
4.
The Application of Whole Exome Sequencing in the Clinical Diagnosis and Management of Inherited Cardiovascular Diseases in Adults
Sara B. Seidelmann, Emily Smith, Lakshman Subrahmanyan, Daniel Dykas, Maen D. Abou Ziki, Bani Azari, Fady Hannah-Shmouni, Yuexin Jiang, Joseph G. Akar, Mark Marieb, Daniel Jacoby, Allen E. Bale, Richard P. Lifton, Arya Mani
Circ Cardiovasc Genet. Author manuscript; available in PMC 2018 Feb 1.
Published in final edited form as: Circ Cardiovasc Genet. 2017 Feb; 10(1): e001573. doi: 10.1161/CIRCGENETICS.116.001573
PMCID:
PMC5245580
AbstractArticlePDF–603K
5.
Gender Differences in the Inheritance Mode of RYR2 Mutations in Catecholaminergic Polymorphic Ventricular Tachycardia Patients
Seiko Ohno, Kanae Hasegawa, Minoru Horie
PLoS One. 2015; 10(6): e0131517. Published online 2015 Jun 26. doi: 10.1371/journal.pone.0131517
Correction in:
PLoS One. 2021; 16(2): e0243476.
PMCID:
PMC4482545
AbstractArticlePDF–841K
6.
High incidence of functional ion-channel abnormalities in a consecutive Long QT cohort with novel missense genetic variants of unknown significance
Annette Buur Steffensen, Marwan M. Refaat, Jens-Peter David, Amer Mujezinovic, Kirstine Calloe, Julianne Wojciak, Robert L. Nussbaum, Melvin M. Scheinman, Nicole Schmitt
Sci Rep. 2015; 5: 10009. Published online 2015 Jun 12. doi: 10.1038/srep10009
PMCID:
PMC4464365
AbstractArticlePDF–2.9M
7.
Molecular Diagnosis of Long-QT syndrome at 10 Days of Life by Rapid Whole Genome Sequencing
James R. Priest, Scott R. Ceresnak, Frederick E. Dewey, Lindsey E. Malloy-Walton, Kyla Dunn, Megan E. Grove, Marco V. Perez, Katsuhide Maeda, Anne M. Dubin, Euan A. Ashley
Heart Rhythm. Author manuscript; available in PMC 2015 Oct 1.
Published in final edited form as: Heart Rhythm. 2014 Oct; 11(10): 1707–1713. Published online 2014 Jun 25. doi: 10.1016/j.hrthm.2014.06.030
PMCID:
PMC4379486
AbstractArticlePDF–201K
8.
Determining the Pathogenicity of Genetic Variants Associated with Cardiac Channelopathies
Oscar Campuzano, Catarina Allegue, Anna Fernandez, Anna Iglesias, Ramon Brugada
Sci Rep. 2015; 5: 7953. Published online 2015 Jan 22. doi: 10.1038/srep07953
PMCID:
PMC4302303
AbstractArticlePDF–677K
9.
Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia
Roddy Walsh, Nicholas S Peters, Stuart A Cook, James S Ware
J Med Genet. 2014 Jan; 51(1): 35–44. Published online 2013 Oct 17. doi: 10.1136/jmedgenet-2013-101917
PMCID:
PMC3888601
AbstractArticlePDF–1.2M
10.
Long QT Interval in Turner Syndrome – A High Prevalence of LQTS Gene Mutations
Christian Trolle, Kristian H. Mortensen, Lisbeth N. Pedersen, Agnethe Berglund, Henrik K. Jensen, Niels H. Andersen, Claus H. Gravholt
PLoS One. 2013; 8(7): e69614. Published online 2013 Jul 25. doi: 10.1371/journal.pone.0069614
PMCID:
PMC3723856
AbstractArticlePDF–236K
11.
A Common Missense Variant in the Neuregulin1 Gene is associated with Both Schizophrenia and Sudden Cardiac Death
Adriana Huertas-Vazquez, Carmen Teodorescu, Kyndaron Reinier, Audrey Uy-Evanado, Harpriya Chugh, Katherine Jerger, Jo Ayala, Karen Gunson, Jonathan Jui, Christopher Newton-Cheh, Christine M. Albert, Sumeet S. Chugh
Heart Rhythm. Author manuscript; available in PMC 2014 Jul 1.
Published in final edited form as: Heart Rhythm. 2013 Jul; 10(7): 994–998. Published online 2013 Mar 21. doi: 10.1016/j.hrthm.2013.03.020
PMCID:
PMC3692570
AbstractArticlePDF–299K
12.
Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing
Laurence M. Nunn, Luis R. Lopes, Petros Syrris, Cian Murphy, Vincent Plagnol, Eileen Firman, Chrysoula Dalageorgou, Esther Zorio, Diana Domingo, Victoria Murday, Iain Findlay, Alexis Duncan, Gerry Carr-White, Leema Robert, Teofila Bueser, Caroline Langman, Simon P Fynn, Martin Goddard, Anne White, Henning Bundgaard, Laura Ferrero-Miliani, Nigel Wheeldon, Simon K. Suvarna, Aliceson O'Beirne, Martin D. Lowe, William J. McKenna, Perry M. Elliott, Pier D. Lambiase
Europace. 2016 Jun; 18(6): 888–896. Published online 2015 Oct 25. doi: 10.1093/europace/euv285
PMCID:
PMC5841561
AbstractArticlePDF–210K
13.
Common Genetic Variants Associated with Sudden Cardiac Death: The FinSCDgen Study
Annukka M. Lahtinen, Peter A. Noseworthy, Aki S. Havulinna, Antti Jula, Pekka J. Karhunen, Johannes Kettunen, Markus Perola, Kimmo Kontula, Christopher Newton-Cheh, Veikko Salomaa
PLoS One. 2012; 7(7): e41675. Published online 2012 Jul 23. doi: 10.1371/journal.pone.0041675
PMCID:
PMC3402479
AbstractArticlePDF–152K
14.
Circadian rhythms govern cardiac repolarization and arrhythmogenesis
Darwin Jeyaraj, Saptarsi M. Haldar, Xiaoping Wan, Mark D. McCauley, Jürgen A. Ripperger, Kun Hu, Yuan Lu, Betty L. Eapen, Nikunj Sharma, Eckhard Ficker, Michael J. Cutler, James Gulick, Atsushi Sanbe, Jeffrey Robbins, Sophie Demolombe, Roman V. Kondratov, Steven A. Shea, Urs Albrecht, Xander H.T. Wehrens, David S. Rosenbaum, Mukesh K. Jain
Nature. Author manuscript; available in PMC 2012 Sep 1.
Published in final edited form as: Nature. 2012 Mar 1; 483(7387): 96–99. Published online 2012 Feb 22. doi: 10.1038/nature10852
PMCID:
PMC3297978
AbstractArticlePDF–589K
15.
Ryanodine Receptor Phosphorylation by CaMKII Promotes Life-Threatening Ventricular Arrhythmias in Mice with Heart Failure
Ralph J. van Oort, Mark D. McCauley, Sayali S. Dixit, Laetitia Pereira, Yi Yang, Jonathan L. Respress, Qiongling Wang, Angela C. De Almeida, Darlene G. Skapura, Mark E. Anderson, Donald M. Bers, Xander H.T. Wehrens
Circulation. Author manuscript; available in PMC 2011 Dec 21.
Published in final edited form as: Circulation. 2010 Dec 21; 122(25): 2669–2679. Published online 2010 Nov 15. doi: 10.1161/CIRCULATIONAHA.110.982298
PMCID:
PMC3075419
AbstractArticlePDF–1.4M
16.
Common Variants in Cardiac Ion Channel Genes are Associated with Sudden Cardiac Death
Christine M. Albert, Calum A. MacRae, Daniel I. Chasman, Martin VanDenburgh, Julie E Buring, JoAnn E Manson, Nancy R Cook, Christopher Newton-Cheh
Circ Arrhythm Electrophysiol. Author manuscript; available in PMC 2011 Jun 1.
Published in final edited form as: Circ Arrhythm Electrophysiol. 2010 Jun 1; 3(3): 222–229. Published online 2010 Apr 17. doi: 10.1161/CIRCEP.110.944934
PMCID:
PMC2891421
AbstractArticlePDF–917K
17.
Comprehensive Open Reading Frame Mutational Analysis of the RYR2-Encoded Ryanodine Receptor/Calcium Channel in Patients Diagnosed Previously with Either Catecholaminergic Polymorphic Ventricular Tachycardia or Genotype Negative, Exercise-Induced Long QT Syndrome
Argelia Medeiros-Domingo, Zahurul A. Bhuiyan, David J. Tester, Nynke Hofman, Hennie Bikker, J Peter van Tintelen, Marcel M.A.M Mannens, Arthur A.M. Wilde, Michael J. Ackerman
J Am Coll Cardiol. Author manuscript; available in PMC 2010 Nov 24.
Published in final edited form as: J Am Coll Cardiol. 2009 Nov 24; 54(22): 2065–2074. doi: 10.1016/j.jacc.2009.08.022
PMCID:
PMC2880864
AbstractArticlePDF–1.1M
18.
GPD1L links redox state to cardiac excitability by PKC-dependent phosphorylation of the sodium channel SCN5A
Carmen R. Valdivia, Kazuo Ueda, Michael J. Ackerman, Jonathan C. Makielski
Am J Physiol Heart Circ Physiol. 2009 Oct; 297(4): H1446–H1452. Published online 2009 Aug 7. doi: 10.1152/ajpheart.00513.2009
PMCID:
PMC2770765
AbstractArticle
19.
Genome-Wide Linkage Scan Identifies a Novel Genetic Locus on Chromosome 5p13 for Neonatal Atrial Fibrillation Associated With Sudden Death and Variable Cardiomyopathy
Carlos Oberti, Lejin Wang, Lin Li, Jiamei Dong, Shaoqi Rao, Wei Du, Qing Wang
Circulation. Author manuscript; available in PMC 2006 Oct 23.
Published in final edited form as: Circulation. 2004 Dec 21; 110(25): 3753–3759. Published online 2004 Dec 13. doi: 10.1161/01.CIR.0000150333.87176.C7
PMCID:
PMC1618875
AbstractArticlePDF–449K
20.
Brugada syndrome
Carlo Napolitano, Silvia G Priori
Orphanet J Rare Dis. 2006; 1: 35. Published online 2006 Sep 14. doi: 10.1186/1750-1172-1-35
PMCID:
PMC1592481
AbstractArticlePDF–695K

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