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

Patients with Cornelia de Lange Syndrome (CdLS) often have mutations in cohesin and its regulators; however, the molecular mechanism driving CdLS phenotypes is not well established. Here the authors reveal system skeletal organization genes are downregulated and show that cohesin and its loader Nipb...

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Bibliographic Details
Main Authors: Patricia Garcia, Rita Fernandez-Hernandez, Ana Cuadrado, Ignacio Coca, Antonio Gomez, Maria Maqueda, Ana Latorre-Pellicer, Beatriz Puisac, Feliciano J. Ramos, Juan Sandoval, Manel Esteller, Jose Luis Mosquera, Jairo Rodriguez, J. Pié, Ana Losada, Ethel Queralt
Format: Article
Language:English
Published: Nature Publishing Group 2021-07-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-021-24808-z