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The phenomenal epigenome in neurodevelopmental disorders
Disruption of chromatin structure due to epimutations is a leading genetic etiology of neurodevelopmental disorders, collectively known as chromatinopathies. We show that there is an increasing level of convergence from the high diversity of genes that are affected by mutations to the molecular netw...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7530535/ https://www.ncbi.nlm.nih.gov/pubmed/32766754 http://dx.doi.org/10.1093/hmg/ddaa175 |
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author | Ciptasari, Ummi van Bokhoven, Hans |
author_facet | Ciptasari, Ummi van Bokhoven, Hans |
author_sort | Ciptasari, Ummi |
collection | PubMed |
description | Disruption of chromatin structure due to epimutations is a leading genetic etiology of neurodevelopmental disorders, collectively known as chromatinopathies. We show that there is an increasing level of convergence from the high diversity of genes that are affected by mutations to the molecular networks and pathways involving the respective proteins, the disrupted cellular and subcellular processes, and their consequence for higher order cellular network function. This convergence is ultimately reflected by specific phenotypic features shared across the various chromatinopathies. Based on these observations, we propose that the commonly disrupted molecular and cellular anomalies might provide a rational target for the development of symptomatic interventions for defined groups of genetically distinct neurodevelopmental disorders. |
format | Online Article Text |
id | pubmed-7530535 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-75305352020-10-07 The phenomenal epigenome in neurodevelopmental disorders Ciptasari, Ummi van Bokhoven, Hans Hum Mol Genet Invited Review Article Disruption of chromatin structure due to epimutations is a leading genetic etiology of neurodevelopmental disorders, collectively known as chromatinopathies. We show that there is an increasing level of convergence from the high diversity of genes that are affected by mutations to the molecular networks and pathways involving the respective proteins, the disrupted cellular and subcellular processes, and their consequence for higher order cellular network function. This convergence is ultimately reflected by specific phenotypic features shared across the various chromatinopathies. Based on these observations, we propose that the commonly disrupted molecular and cellular anomalies might provide a rational target for the development of symptomatic interventions for defined groups of genetically distinct neurodevelopmental disorders. Oxford University Press 2020-08-07 /pmc/articles/PMC7530535/ /pubmed/32766754 http://dx.doi.org/10.1093/hmg/ddaa175 Text en © The Author(s) 2020. Published by Oxford University Press. http://creativecommons.org/licenses/by/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Invited Review Article Ciptasari, Ummi van Bokhoven, Hans The phenomenal epigenome in neurodevelopmental disorders |
title | The phenomenal epigenome in neurodevelopmental disorders |
title_full | The phenomenal epigenome in neurodevelopmental disorders |
title_fullStr | The phenomenal epigenome in neurodevelopmental disorders |
title_full_unstemmed | The phenomenal epigenome in neurodevelopmental disorders |
title_short | The phenomenal epigenome in neurodevelopmental disorders |
title_sort | phenomenal epigenome in neurodevelopmental disorders |
topic | Invited Review Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7530535/ https://www.ncbi.nlm.nih.gov/pubmed/32766754 http://dx.doi.org/10.1093/hmg/ddaa175 |
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