Neuronal genes deregulated in Cornelia de Lange Syndrome respond to removal and re-expression of cohesin

A feature of cohesin mutations in patients with Cornelia de Lange Syndrome (CdLS) is intellectual disability, but the underlying mechanisms have remained obscure. Here the authors show gene expression is deregulated in CdLS neurons and is recapitulated in a mouse model with cohesin depletion, which...

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Autores principales: Felix D. Weiss, Lesly Calderon, Yi-Fang Wang, Radina Georgieva, Ya Guo, Nevena Cvetesic, Maninder Kaur, Gopuraja Dharmalingam, Ian D. Krantz, Boris Lenhard, Amanda G. Fisher, Matthias Merkenschlager
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Publicado: Nature Portfolio 2021
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Acceso en línea:https://doaj.org/article/afef53aab6c24336822425f4c1c3c8be
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spelling oai:doaj.org-article:afef53aab6c24336822425f4c1c3c8be2021-12-02T16:51:19ZNeuronal genes deregulated in Cornelia de Lange Syndrome respond to removal and re-expression of cohesin10.1038/s41467-021-23141-92041-1723https://doaj.org/article/afef53aab6c24336822425f4c1c3c8be2021-05-01T00:00:00Zhttps://doi.org/10.1038/s41467-021-23141-9https://doaj.org/toc/2041-1723A feature of cohesin mutations in patients with Cornelia de Lange Syndrome (CdLS) is intellectual disability, but the underlying mechanisms have remained obscure. Here the authors show gene expression is deregulated in CdLS neurons and is recapitulated in a mouse model with cohesin depletion, which can be restored by re-expression of cohesin.Felix D. WeissLesly CalderonYi-Fang WangRadina GeorgievaYa GuoNevena CvetesicManinder KaurGopuraja DharmalingamIan D. KrantzBoris LenhardAmanda G. FisherMatthias MerkenschlagerNature PortfolioarticleScienceQENNature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
institution DOAJ
collection DOAJ
language EN
topic Science
Q
spellingShingle Science
Q
Felix D. Weiss
Lesly Calderon
Yi-Fang Wang
Radina Georgieva
Ya Guo
Nevena Cvetesic
Maninder Kaur
Gopuraja Dharmalingam
Ian D. Krantz
Boris Lenhard
Amanda G. Fisher
Matthias Merkenschlager
Neuronal genes deregulated in Cornelia de Lange Syndrome respond to removal and re-expression of cohesin
description A feature of cohesin mutations in patients with Cornelia de Lange Syndrome (CdLS) is intellectual disability, but the underlying mechanisms have remained obscure. Here the authors show gene expression is deregulated in CdLS neurons and is recapitulated in a mouse model with cohesin depletion, which can be restored by re-expression of cohesin.
format article
author Felix D. Weiss
Lesly Calderon
Yi-Fang Wang
Radina Georgieva
Ya Guo
Nevena Cvetesic
Maninder Kaur
Gopuraja Dharmalingam
Ian D. Krantz
Boris Lenhard
Amanda G. Fisher
Matthias Merkenschlager
author_facet Felix D. Weiss
Lesly Calderon
Yi-Fang Wang
Radina Georgieva
Ya Guo
Nevena Cvetesic
Maninder Kaur
Gopuraja Dharmalingam
Ian D. Krantz
Boris Lenhard
Amanda G. Fisher
Matthias Merkenschlager
author_sort Felix D. Weiss
title Neuronal genes deregulated in Cornelia de Lange Syndrome respond to removal and re-expression of cohesin
title_short Neuronal genes deregulated in Cornelia de Lange Syndrome respond to removal and re-expression of cohesin
title_full Neuronal genes deregulated in Cornelia de Lange Syndrome respond to removal and re-expression of cohesin
title_fullStr Neuronal genes deregulated in Cornelia de Lange Syndrome respond to removal and re-expression of cohesin
title_full_unstemmed Neuronal genes deregulated in Cornelia de Lange Syndrome respond to removal and re-expression of cohesin
title_sort neuronal genes deregulated in cornelia de lange syndrome respond to removal and re-expression of cohesin
publisher Nature Portfolio
publishDate 2021
url https://doaj.org/article/afef53aab6c24336822425f4c1c3c8be
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