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The effect of Nipped-B-like (Nipbl) haploinsufficiency on genome-wide cohesin binding and target gene expression: modeling Cornelia de Lange syndrome

BACKGROUND: Cornelia de Lange syndrome (CdLS) is a multisystem developmental disorder frequently associated with heterozygous loss-of-function mutations of Nipped-B-like (NIPBL), the human homolog of Drosophila Nipped-B. NIPBL loads cohesin onto chromatin. Cohesin mediates sister chromatid cohesion...

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Detalles Bibliográficos
Autores principales: Newkirk, Daniel A., Chen, Yen-Yun, Chien, Richard, Zeng, Weihua, Biesinger, Jacob, Flowers, Ebony, Kawauchi, Shimako, Santos, Rosaysela, Calof, Anne L., Lander, Arthur D., Xie, Xiaohui, Yokomori, Kyoko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5574093/
https://www.ncbi.nlm.nih.gov/pubmed/28855971
http://dx.doi.org/10.1186/s13148-017-0391-x