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

Cornelia de Lange syndrome is a multisystem developmental disorder typically caused by mutations in the gene encoding the cohesin loader NIPBL. The associated phenotype is generally assumed to be the consequence of aberrant transcriptional regulation. Recently, we identified a missense mutation in B...

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Publié dans:Nat Commun
Auteurs principaux: Olley, Gabrielle, Pradeepa, Madapura M., Grimes, Graeme R., Piquet, Sandra, Polo, Sophie E., FitzPatrick, David R., Bickmore, Wendy A., Boumendil, Charlene
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group UK 2021
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC8149872/
https://ncbi.nlm.nih.gov/pubmed/34035299
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-021-23500-6
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