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Inherited Cardiomyopathies and the Role of Mutations in Non-coding Regions of the Genome
Cardiomyopathies (CMs) are a group of cardiac pathologies caused by an intrinsic defect within the myocardium. The relative contribution of genetic mutations in the pathogenesis of certain CMs, such as hypertrophic cardiomyopathy (HCM), arrythmogenic right/left ventricular cardiomyopathy (ARVC) and...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6028572/ https://www.ncbi.nlm.nih.gov/pubmed/29998127 http://dx.doi.org/10.3389/fcvm.2018.00077 |
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author | Salman, Oday F. El-Rayess, Hebah M. Abi Khalil, Charbel Nemer, Georges Refaat, Marwan M. |
author_facet | Salman, Oday F. El-Rayess, Hebah M. Abi Khalil, Charbel Nemer, Georges Refaat, Marwan M. |
author_sort | Salman, Oday F. |
collection | PubMed |
description | Cardiomyopathies (CMs) are a group of cardiac pathologies caused by an intrinsic defect within the myocardium. The relative contribution of genetic mutations in the pathogenesis of certain CMs, such as hypertrophic cardiomyopathy (HCM), arrythmogenic right/left ventricular cardiomyopathy (ARVC) and left ventricular non-compacted cardiomyopathy (LVNC) has been established in comparison to dilated cardiomyopathy (DCM) and restrictive cardiomyopathy (RCM). The aim of this article is to review mutations in the non-coding parts of the genome, namely, microRNA, promoter elements, enhancer/silencer elements, 3′/5′UTRs and introns, that are involved in the pathogenesis CMs. Additionally, we will explore the role of some long non-coding RNAs in the pathogenesis of CMs. |
format | Online Article Text |
id | pubmed-6028572 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-60285722018-07-11 Inherited Cardiomyopathies and the Role of Mutations in Non-coding Regions of the Genome Salman, Oday F. El-Rayess, Hebah M. Abi Khalil, Charbel Nemer, Georges Refaat, Marwan M. Front Cardiovasc Med Cardiovascular Medicine Cardiomyopathies (CMs) are a group of cardiac pathologies caused by an intrinsic defect within the myocardium. The relative contribution of genetic mutations in the pathogenesis of certain CMs, such as hypertrophic cardiomyopathy (HCM), arrythmogenic right/left ventricular cardiomyopathy (ARVC) and left ventricular non-compacted cardiomyopathy (LVNC) has been established in comparison to dilated cardiomyopathy (DCM) and restrictive cardiomyopathy (RCM). The aim of this article is to review mutations in the non-coding parts of the genome, namely, microRNA, promoter elements, enhancer/silencer elements, 3′/5′UTRs and introns, that are involved in the pathogenesis CMs. Additionally, we will explore the role of some long non-coding RNAs in the pathogenesis of CMs. Frontiers Media S.A. 2018-06-26 /pmc/articles/PMC6028572/ /pubmed/29998127 http://dx.doi.org/10.3389/fcvm.2018.00077 Text en Copyright © 2018 Salman, El-Rayess, Abi Khalil, Nemer and Refaat. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Cardiovascular Medicine Salman, Oday F. El-Rayess, Hebah M. Abi Khalil, Charbel Nemer, Georges Refaat, Marwan M. Inherited Cardiomyopathies and the Role of Mutations in Non-coding Regions of the Genome |
title | Inherited Cardiomyopathies and the Role of Mutations in Non-coding Regions of the Genome |
title_full | Inherited Cardiomyopathies and the Role of Mutations in Non-coding Regions of the Genome |
title_fullStr | Inherited Cardiomyopathies and the Role of Mutations in Non-coding Regions of the Genome |
title_full_unstemmed | Inherited Cardiomyopathies and the Role of Mutations in Non-coding Regions of the Genome |
title_short | Inherited Cardiomyopathies and the Role of Mutations in Non-coding Regions of the Genome |
title_sort | inherited cardiomyopathies and the role of mutations in non-coding regions of the genome |
topic | Cardiovascular Medicine |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6028572/ https://www.ncbi.nlm.nih.gov/pubmed/29998127 http://dx.doi.org/10.3389/fcvm.2018.00077 |
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