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Epigenetic disorders: Lessons from the animals–animal models in chromatinopathies

Chromatinopathies are defined as genetic disorders caused by mutations in genes coding for protein involved in the chromatin state balance. So far 82 human conditions have been described belonging to this group of congenital disorders, sharing some molecular features and clinical signs. For almost a...

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Autores principales: Di Fede, Elisabetta, Grazioli, Paolo, Lettieri, Antonella, Parodi, Chiara, Castiglioni, Silvia, Taci, Esi, Colombo, Elisa Adele, Ancona, Silvia, Priori, Alberto, Gervasini, Cristina, Massa, Valentina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9548571/
https://www.ncbi.nlm.nih.gov/pubmed/36225316
http://dx.doi.org/10.3389/fcell.2022.979512
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author Di Fede, Elisabetta
Grazioli, Paolo
Lettieri, Antonella
Parodi, Chiara
Castiglioni, Silvia
Taci, Esi
Colombo, Elisa Adele
Ancona, Silvia
Priori, Alberto
Gervasini, Cristina
Massa, Valentina
author_facet Di Fede, Elisabetta
Grazioli, Paolo
Lettieri, Antonella
Parodi, Chiara
Castiglioni, Silvia
Taci, Esi
Colombo, Elisa Adele
Ancona, Silvia
Priori, Alberto
Gervasini, Cristina
Massa, Valentina
author_sort Di Fede, Elisabetta
collection PubMed
description Chromatinopathies are defined as genetic disorders caused by mutations in genes coding for protein involved in the chromatin state balance. So far 82 human conditions have been described belonging to this group of congenital disorders, sharing some molecular features and clinical signs. For almost all of these conditions, no specific treatment is available. For better understanding the molecular cascade caused by chromatin imbalance and for envisaging possible therapeutic strategies it is fundamental to combine clinical and basic research studies. To this end, animal modelling systems represent an invaluable tool to study chromatinopathies. In this review, we focused on available data in the literature of animal models mimicking the human genetic conditions. Importantly, affected organs and abnormalities are shared in the different animal models and most of these abnormalities are reported as clinical manifestation, underlying the parallelism between clinics and translational research.
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spelling pubmed-95485712022-10-11 Epigenetic disorders: Lessons from the animals–animal models in chromatinopathies Di Fede, Elisabetta Grazioli, Paolo Lettieri, Antonella Parodi, Chiara Castiglioni, Silvia Taci, Esi Colombo, Elisa Adele Ancona, Silvia Priori, Alberto Gervasini, Cristina Massa, Valentina Front Cell Dev Biol Cell and Developmental Biology Chromatinopathies are defined as genetic disorders caused by mutations in genes coding for protein involved in the chromatin state balance. So far 82 human conditions have been described belonging to this group of congenital disorders, sharing some molecular features and clinical signs. For almost all of these conditions, no specific treatment is available. For better understanding the molecular cascade caused by chromatin imbalance and for envisaging possible therapeutic strategies it is fundamental to combine clinical and basic research studies. To this end, animal modelling systems represent an invaluable tool to study chromatinopathies. In this review, we focused on available data in the literature of animal models mimicking the human genetic conditions. Importantly, affected organs and abnormalities are shared in the different animal models and most of these abnormalities are reported as clinical manifestation, underlying the parallelism between clinics and translational research. Frontiers Media S.A. 2022-09-26 /pmc/articles/PMC9548571/ /pubmed/36225316 http://dx.doi.org/10.3389/fcell.2022.979512 Text en Copyright © 2022 Di Fede, Grazioli, Lettieri, Parodi, Castiglioni, Taci, Colombo, Ancona, Priori, Gervasini and Massa. https://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(s) 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 Cell and Developmental Biology
Di Fede, Elisabetta
Grazioli, Paolo
Lettieri, Antonella
Parodi, Chiara
Castiglioni, Silvia
Taci, Esi
Colombo, Elisa Adele
Ancona, Silvia
Priori, Alberto
Gervasini, Cristina
Massa, Valentina
Epigenetic disorders: Lessons from the animals–animal models in chromatinopathies
title Epigenetic disorders: Lessons from the animals–animal models in chromatinopathies
title_full Epigenetic disorders: Lessons from the animals–animal models in chromatinopathies
title_fullStr Epigenetic disorders: Lessons from the animals–animal models in chromatinopathies
title_full_unstemmed Epigenetic disorders: Lessons from the animals–animal models in chromatinopathies
title_short Epigenetic disorders: Lessons from the animals–animal models in chromatinopathies
title_sort epigenetic disorders: lessons from the animals–animal models in chromatinopathies
topic Cell and Developmental Biology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9548571/
https://www.ncbi.nlm.nih.gov/pubmed/36225316
http://dx.doi.org/10.3389/fcell.2022.979512
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