Cornelia de Lange syndrome-associated mutations cause a DNA damage signalling and repair defect

Cornelia de Lange syndrome is a developmental disorder typically caused by mutations in the gene encoding the cohesin loader NIPBL. The authors, here, by analysing previously identified mutations in BRD4 associated with the disease, reveal that a BRD4 mutation affects DNA damage signalling, and pert...

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Autores principales:	Gabrielle Olley, Madapura M. Pradeepa, Graeme R. Grimes, Sandra Piquet, Sophie E. Polo, David R. FitzPatrick, Wendy A. Bickmore, Charlene Boumendil
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/ca4b38a0654642d4bef4e53c2dd55e09
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spelling	oai:doaj.org-article:ca4b38a0654642d4bef4e53c2dd55e092021-12-02T15:00:59ZCornelia de Lange syndrome-associated mutations cause a DNA damage signalling and repair defect10.1038/s41467-021-23500-62041-1723https://doaj.org/article/ca4b38a0654642d4bef4e53c2dd55e092021-05-01T00:00:00Zhttps://doi.org/10.1038/s41467-021-23500-6https://doaj.org/toc/2041-1723Cornelia de Lange syndrome is a developmental disorder typically caused by mutations in the gene encoding the cohesin loader NIPBL. The authors, here, by analysing previously identified mutations in BRD4 associated with the disease, reveal that a BRD4 mutation affects DNA damage signalling, and perturbs regulation of DNA repair in mutant cells.Gabrielle OlleyMadapura M. PradeepaGraeme R. GrimesSandra PiquetSophie E. PoloDavid R. FitzPatrickWendy A. BickmoreCharlene BoumendilNature PortfolioarticleScienceQENNature Communications, Vol 12, Iss 1, Pp 1-12 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Gabrielle Olley Madapura M. Pradeepa Graeme R. Grimes Sandra Piquet Sophie E. Polo David R. FitzPatrick Wendy A. Bickmore Charlene Boumendil Cornelia de Lange syndrome-associated mutations cause a DNA damage signalling and repair defect
description	Cornelia de Lange syndrome is a developmental disorder typically caused by mutations in the gene encoding the cohesin loader NIPBL. The authors, here, by analysing previously identified mutations in BRD4 associated with the disease, reveal that a BRD4 mutation affects DNA damage signalling, and perturbs regulation of DNA repair in mutant cells.
format	article
author	Gabrielle Olley Madapura M. Pradeepa Graeme R. Grimes Sandra Piquet Sophie E. Polo David R. FitzPatrick Wendy A. Bickmore Charlene Boumendil
author_facet	Gabrielle Olley Madapura M. Pradeepa Graeme R. Grimes Sandra Piquet Sophie E. Polo David R. FitzPatrick Wendy A. Bickmore Charlene Boumendil
author_sort	Gabrielle Olley
title	Cornelia de Lange syndrome-associated mutations cause a DNA damage signalling and repair defect
title_short	Cornelia de Lange syndrome-associated mutations cause a DNA damage signalling and repair defect
title_full	Cornelia de Lange syndrome-associated mutations cause a DNA damage signalling and repair defect
title_fullStr	Cornelia de Lange syndrome-associated mutations cause a DNA damage signalling and repair defect
title_full_unstemmed	Cornelia de Lange syndrome-associated mutations cause a DNA damage signalling and repair defect
title_sort	cornelia de lange syndrome-associated mutations cause a dna damage signalling and repair defect
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/ca4b38a0654642d4bef4e53c2dd55e09
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Cornelia de Lange syndrome-associated mutations cause a DNA damage signalling and repair defect

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