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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...

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Autores principales: Salman, Oday F., El-Rayess, Hebah M., Abi Khalil, Charbel, Nemer, Georges, Refaat, Marwan M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
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.
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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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