Genetics of Congenital Heart Disease

Congenital heart disease (CHD) is one of the most common birth defects. Studies in animal models and humans have indicated a genetic etiology for CHD. About 400 genes have been implicated in CHD, encompassing transcription factors, cell signaling molecules, and structural proteins that are important...

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Detalles Bibliográficos
Autores principales: Williams, Kylia, Carson, Jason, Lo, Cecilia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6995556/
https://www.ncbi.nlm.nih.gov/pubmed/31888141
http://dx.doi.org/10.3390/biom9120879
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author Williams, Kylia
Carson, Jason
Lo, Cecilia
author_facet Williams, Kylia
Carson, Jason
Lo, Cecilia
author_sort Williams, Kylia
collection PubMed
description Congenital heart disease (CHD) is one of the most common birth defects. Studies in animal models and humans have indicated a genetic etiology for CHD. About 400 genes have been implicated in CHD, encompassing transcription factors, cell signaling molecules, and structural proteins that are important for heart development. Recent studies have shown genes encoding chromatin modifiers, cilia related proteins, and cilia-transduced cell signaling pathways play important roles in CHD pathogenesis. Elucidating the genetic etiology of CHD will help improve diagnosis and the development of new therapies to improve patient outcomes.
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spelling pubmed-69955562020-02-13 Genetics of Congenital Heart Disease Williams, Kylia Carson, Jason Lo, Cecilia Biomolecules Review Congenital heart disease (CHD) is one of the most common birth defects. Studies in animal models and humans have indicated a genetic etiology for CHD. About 400 genes have been implicated in CHD, encompassing transcription factors, cell signaling molecules, and structural proteins that are important for heart development. Recent studies have shown genes encoding chromatin modifiers, cilia related proteins, and cilia-transduced cell signaling pathways play important roles in CHD pathogenesis. Elucidating the genetic etiology of CHD will help improve diagnosis and the development of new therapies to improve patient outcomes. MDPI 2019-12-16 /pmc/articles/PMC6995556/ /pubmed/31888141 http://dx.doi.org/10.3390/biom9120879 Text en © 2019 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Williams, Kylia
Carson, Jason
Lo, Cecilia
Genetics of Congenital Heart Disease
title Genetics of Congenital Heart Disease
title_full Genetics of Congenital Heart Disease
title_fullStr Genetics of Congenital Heart Disease
title_full_unstemmed Genetics of Congenital Heart Disease
title_short Genetics of Congenital Heart Disease
title_sort genetics of congenital heart disease
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6995556/
https://www.ncbi.nlm.nih.gov/pubmed/31888141
http://dx.doi.org/10.3390/biom9120879
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AT carsonjason geneticsofcongenitalheartdisease
AT locecilia geneticsofcongenitalheartdisease

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