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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2017
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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 |
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