NIPBL(+/−) haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states

Cornelia de Lange syndrome (CdLS) is a complex disorder with multiple structural and developmental defects caused by mutations in structural and regulatory proteins involved in the cohesin complex. NIPBL, a cohesin regulatory protein, has been identified as a critical protein responsible for the orc...

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Detalles Bibliográficos
Autores principales: Mills, Jason A., Herrera, Pamela S, Kaur, Maninder, Leo, Lanfranco, McEldrew, Deborah, Tintos-Hernandez, Jesus A, Rajagopalan, Ramakrishnan, Gagne, Alyssa, Zhang, Zhe, Ortiz-Gonzalez, Xilma R., Krantz, Ian D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5773608/
https://www.ncbi.nlm.nih.gov/pubmed/29348408
http://dx.doi.org/10.1038/s41598-018-19173-9

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