Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome

Cornelia de Lange syndrome (CdLS) is a rare disease affecting multiple organs and systems during development. Mutations in the cohesin loader, NIPBL/Scc2, were first described and are the most frequent in clinically diagnosed CdLS patients. The molecular mechanisms driving CdLS phenotypes are not un...

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Vydáno v:Nat Commun
Hlavní autoři: Garcia, Patricia, Fernandez-Hernandez, Rita, Cuadrado, Ana, Coca, Ignacio, Gomez, Antonio, Maqueda, Maria, Latorre-Pellicer, Ana, Puisac, Beatriz, Ramos, Feliciano J., Sandoval, Juan, Esteller, Manel, Mosquera, Jose Luis, Rodriguez, Jairo, Pié, J., Losada, Ana, Queralt, Ethel
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group UK 2021
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8316422/
https://ncbi.nlm.nih.gov/pubmed/34315879
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-021-24808-z
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