BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome

We show that the clinical phenotype associated with BRD4 haploinsufficiency overlaps with Cornelia de Lange syndrome (CdLS) – most often caused by mutation of NIPBL. More typical CdLS was observed with a de novo BRD4 missense variant, which retains the ability to co-immunoprecipitate with NIPBL but...

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Detalhes bibliográficos
Publicado no:Nat Genet
Main Authors: Olley, Gabrielle, Ansari, Morad, Bengani, Hemant, Grimes, Graeme R, Rhodes, James, von Kriegsheim, Alex, Blatnik, Ana, Stewart, Fiona J., Wakeling, Emma, Carroll, Nicola, Ross, Alison, Park, Soo-Mi, Bickmore, Wendy A, Pradeepa, Madapura M, FitzPatrick, David R
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6469577/
https://ncbi.nlm.nih.gov/pubmed/29379197
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41588-018-0042-y
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