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Items: 1 to 20 of 24

1.
Role of non‐coding variants in cardiovascular disease
Katayoun Heshmatzad, Niloofar Naderi, Majid Maleki, Shiva Abbasi, Serwa Ghasemi, Nooshin Ashrafi, Amir Farjam Fazelifar, Mohammad Mahdavi, Samira Kalayinia
J Cell Mol Med. 2023 Jun; 27(12): 1621–1636. Published online 2023 May 15. doi: 10.1111/jcmm.17762
PMCID:
PMC10273088
AbstractArticlePDF–2.9M
2.
Establishment of a Dedicated Inherited Cardiomyopathy Clinic: From Challenges to Improved Patients’ Outcome
Emily Smith, Paul D. Thompson, Carolyn Burke‐Martindale, Adaya Weissler‐Snir
J Am Heart Assoc. 2022 May 3; 11(9): e024501. Published online 2022 Apr 26. doi: 10.1161/JAHA.121.024501
PMCID:
PMC9238612
AbstractArticlePDF–668K
3.
A Case of Severe Left-Ventricular Noncompaction Associated with Splicing Altering Variant in the FHOD3 Gene
Roman Myasnikov, Anna Bukaeva, Olga Kulikova, Alexey Meshkov, Anna Kiseleva, Alexandra Ershova, Anna Petukhova, Mikhail Divashuk, Evgenia Zotova, Evgeniia Sotnikova, Maria Kharlap, Anastasia Zharikova, Yuri Vyatkin, Vasily Ramensky, Alexandra Abisheva, Alisa Muraveva, Sergey Koretskiy, Maria Kudryavtseva, Sergey Popov, Marina Utkina, Elena Mershina, Valentin Sinitsyn, Evgeniya Kogan, Olga Blagova, Oxana Drapkina
Genes (Basel) 2022 Feb; 13(2): 309. Published online 2022 Feb 7. doi: 10.3390/genes13020309
PMCID:
PMC8872028
AbstractArticlePDF–3.1M
4.
Phenotypic Expression and Outcomes in Individuals With Rare Genetic Variants of Hypertrophic Cardiomyopathy
Antonio de Marvao, Kathryn A. McGurk, Sean L. Zheng, Marjola Thanaj, Wenjia Bai, Jinming Duan, Carlo Biffi, Francesco Mazzarotto, Ben Statton, Timothy J.W. Dawes, Nicolò Savioli, Brian P. Halliday, Xiao Xu, Rachel J. Buchan, A. John Baksi, Marina Quinlan, Paweł Tokarczuk, Upasana Tayal, Catherine Francis, Nicola Whiffin, Pantazis I. Theotokis, Xiaolei Zhang, Mikyung Jang, Alaine Berry, Antonis Pantazis, Paul J.R. Barton, Daniel Rueckert, Sanjay K. Prasad, Roddy Walsh, Carolyn Y. Ho, Stuart A. Cook, James S. Ware, Declan P. O’Regan
J Am Coll Cardiol. 2021 Sep 14; 78(11): 1097–1110. doi: 10.1016/j.jacc.2021.07.017
PMCID:
PMC8434420
AbstractArticlePDF–1.8M
5.
Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy
Luis R Lopes, Soledad Garcia-Hernández, Massimiliano Lorenzini, Marta Futema, Olga Chumakova, Dmitry Zateyshchikov, Maria Isidoro-Garcia, Eduardo Villacorta, Luis Escobar-Lopez, Pablo Garcia-Pavia, Raquel Bilbao, David Dobarro, Maria Sandin-Fuentes, Claudio Catalli, Blanca Gener Querol, Ainhoa Mezcua, Jose Garcia Pinilla, Torsten Bloch Rasmussen, Ana Ferreira-Aguar, Pablo Revilla-Martí, Maria Teresa Basurte Elorz, Alicia Bautista Paves, Juan Ramon Gimeno, Ana Virginia Figueroa, Raul Franco-Gutierrez, Maria Eugenia Fuentes-Cañamero, Marina Martinez Moreno, Martin Ortiz-Genga, Jesus Piqueras-Flores, Karina Analia Ramos, Ainars Rudzitis, Luis Ruiz-Guerrero, Ricardo Stein, Mayte Triguero-Bocharán, Luis de la Higuera, Juan Pablo Ochoa, Dad Abu-Bonsrah, Cecilia Y T Kwok, Jacob B Smith, Enzo R Porrello, Mohammed M Akhtar, Joanna Jager, Michael Ashworth, Petros Syrris, David A Elliott, Lorenzo Monserrat, Perry M Elliott
Eur Heart J. 2021 Aug 21; 42(32): 3063–3073. Published online 2021 Jul 15. doi: 10.1093/eurheartj/ehab424
PMCID:
PMC8380059
AbstractArticlePDF–1.7M
6.
Variant Spectrum of Formin Homology 2 Domain‐Containing 3 Gene in Chinese Patients With Hypertrophic Cardiomyopathy
Guixin Wu, Jieyun Ruan, Jie Liu, Channa Zhang, Lianming Kang, Jizheng Wang, Yubao Zou, Lei Song
J Am Heart Assoc. 2021 Mar 2; 10(5): e018236. Published online 2021 Feb 15. doi: 10.1161/JAHA.120.018236
PMCID:
PMC8174292
AbstractArticlePDF–1.3M
7.
Angiotensinogen M235T polymorphism and susceptibility to hypertrophic cardiomyopathy in Asian population: A meta analysis
Zhen Zhen, Lu Gao, Qin Wang, Xi Chen, Jia Na, Xiwei Xu, Yue Yuan
J Renin Angiotensin Aldosterone Syst. 2020 Oct-Dec; 21(4): 1470320320978100. Published online 2020 Dec 10. doi: 10.1177/1470320320978100
PMCID:
PMC7734517
AbstractArticlePDF–1.2M
8.
Aetiological and morphological spectrum of cardiomyopathies in French Guiana: a retrospective study
Paul Leménager, Yves-Kenol Franck, Florine Corlin, Nicolas Bouscaren, Mathieu Nacher, Antoine Adenis
Open Heart. 2020; 7(1): e001206. Published online 2020 May 12. doi: 10.1136/openhrt-2019-001206
PMCID:
PMC7228657
AbstractArticlePDF–432K
9.
Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives: Evidence for a Change in Paradigm
Gabrielle Norrish, Joanna Jager, Ella Field, Ellie Quinn, Hannah Fell, Emma Lord, Marcos N. Cicerchia, Juan Pablo Ochoa, Elena Cervi, Perry M. Elliott, Juan Pablo Kaski
Circulation. 2019 Jul 16; 140(3): 184–192. Published online 2019 Apr 22. doi: 10.1161/CIRCULATIONAHA.118.038846
PMCID:
PMC6636798
AbstractArticlePDF–487K
10.
Clinical features, spectrum of causal genetic mutations and outcome of hypertrophic cardiomyopathy in South Africans
Ntobeko AB Ntusi, Gasnat Shaboodien, Motasim Badri, Bongani M Mayosi, Motasim Badri, Freedom Gumedze
Cardiovasc J Afr. 2016 May-Jun; 27(3): 152–158. doi: 10.5830/CVJA-2015-075
PMCID:
PMC5101433
AbstractArticlePDF–121K
11.
Familial Hypertrophic Cardiomyopathy Related Cardiac Troponin C L29Q Mutation Alters Length-Dependent Activation and Functional Effects of Phosphomimetic Troponin I*
Alison Y. Li, Charles M. Stevens, Bo Liang, Kaveh Rayani, Sean Little, Jonathan Davis, Glen F. Tibbits
PLoS One. 2013; 8(11): e79363. Published online 2013 Nov 18. doi: 10.1371/journal.pone.0079363
PMCID:
PMC3832503
AbstractArticlePDF–1.1M
12.
Truncations of Titin Causing Dilated Cardiomyopathy
Daniel S. Herman, Lien Lam, Matthew R.G. Taylor, Libin Wang, Polakit Teekakirikul, Danos Christodoulou, Lauren Conner, Steven R. DePalma, Barbara McDonough, Elizabeth Sparks, Debbie Lin Teodorescu, Allison L. Cirino, Nicholas R. Banner, Dudley J. Pennell, Sharon Graw, Marco Merlo, Andrea Di Lenarda, Gianfranco Sinagra, J. Martijn Bos, Michael J. Ackerman, Richard N. Mitchell, Charles E. Murry, Neal K. Lakdawala, Carolyn Y. Ho, Paul J.R. Barton, Stuart A. Cook, Luisa Mestroni, J.G. Seidman, Christine E. Seidman
N Engl J Med. Author manuscript; available in PMC 2013 May 21.
Published in final edited form as: N Engl J Med. 2012 Feb 16; 366(7): 619–628. doi: 10.1056/NEJMoa1110186
PMCID:
PMC3660031
AbstractArticlePDF–1.7M
13.
High prevalence of Arginine to Glutamine Substitution at 98, 141 and 162 positions in Troponin I (TNNI3) associated with hypertrophic cardiomyopathy among Indians
Deepa Selvi Rani, Pratibha Nallari, Singh Priyamvada, Calambur Narasimhan, Lalji Singh, Kumarasamy Thangaraj
BMC Med Genet. 2012; 13: 69. Published online 2012 Aug 10. doi: 10.1186/1471-2350-13-69
PMCID:
PMC3495047
AbstractArticlePDF–851K
14.
Long-term Rescue of a Familial Hypertrophic Cardiomyopathy Caused by a Mutation in the Thin Filament Protein, Tropomyosin, via Modulation of a Calcium Cycling Protein
Robert D Gaffin, James R Peña, Marco S L Alves, Fernando A L Dias, Shamim Chowdhury, Lynley S Heinrich, Paul H Goldspink, Evangelia G Kranias, David F Wieczorek, Beata M Wolska
J Mol Cell Cardiol. Author manuscript; available in PMC 2012 Nov 1.
Published in final edited form as: J Mol Cell Cardiol. 2011 Nov; 51(5): 812–820. Published online 2011 Aug 5. doi: 10.1016/j.yjmcc.2011.07.026
PMCID:
PMC3221410
AbstractArticlePDF–1.3M
15.
The Diagnosis and Treatment of Hypertrophic Cardiomyopathy
Christian Prinz, Martin Farr, Detlef Hering, Dieter Horstkotte, Lothar Faber
Dtsch Arztebl Int. 2011 Apr; 108(13): 209–215. Published online 2011 Apr 1. doi: 10.3238/arztebl.2011.0209
PMCID:
PMC3078548
AbstractArticlePDF–613K
16.
Signaling and Myosin-binding Protein C
Jeanne James, Jeffrey Robbins
J Biol Chem. 2011 Mar 25; 286(12): 9913–9919. Published online 2011 Jan 21. doi: 10.1074/jbc.R110.171801
PMCID:
PMC3060544
AbstractArticlePDF–691K
17.
Neonatal Gene Transfer of Serca2a Delays Onset of Hypertrophic Remodeling and Improves Function in Familial Hypertrophic Cardiomyopathy
James R Peña, Ariani C Szkudlarek, Chad Warren, Lynley S Heinrich, Robert D. Gaffin, Ganapathy Jagatheesan, Federica del Monte, Roger J Hajjar, Paul H Goldspink, R. John Solaro, David F Wieczorek, Beata M Wolska
J Mol Cell Cardiol. Author manuscript; available in PMC 2011 Dec 1.
Published in final edited form as: J Mol Cell Cardiol. 2010 Dec; 49(6): 993–1002. Published online 2010 Sep 18. doi: 10.1016/j.yjmcc.2010.09.010
PMCID:
PMC2982190
AbstractArticlePDF–1.6M
18.
Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy
María Isabel Rodríguez-García, Lorenzo Monserrat, Martín Ortiz, Xusto Fernández, Laura Cazón, Lucía Núñez, Roberto Barriales-Villa, Emilia Maneiro, Elena Veira, Alfonso Castro-Beiras, Manuel Hermida-Prieto
BMC Med Genet. 2010; 11: 67. Published online 2010 Apr 30. doi: 10.1186/1471-2350-11-67
PMCID:
PMC2880974
AbstractArticlePDF–800K
19.
Stability and Kinetic Properties of C5-Domain from Myosin Binding Protein C and its Mutants
Carlo Guardiani, Fabio Cecconi, Roberto Livi
Biophys J. 2008 Feb 15; 94(4): 1403–1411. Published online 2007 Oct 26. doi: 10.1529/biophysj.107.106625
PMCID:
PMC2212681
AbstractArticlePDF–603K
20.
Counselling issues in familial hypertrophic cardiomyopathy.
B Yu, J A French, R W Jeremy, P French, D R McTaggart, M R Nicholson, C Semsarian, D R Richmond, R J Trent
J Med Genet. 1998 Mar; 35(3): 183–188. doi: 10.1136/jmg.35.3.183
PMCID:
PMC1051239
SummaryPage BrowsePDF–946K

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