Cornelia de Lange syndrome mutations in NIPBL can impair cohesin-mediated DNA loop extrusion

Cornelia de Lange syndrome (CdLS) is a developmental multisystem disorder frequently associated with mutations in NIPBL. CdLS is thought to arise from developmental gene regulation defects, but how NIPBL mutations cause these is unknown. Here we show that several NIPBL mutations impair the DNA loop...

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Detalles Bibliográficos
Autores principales: Panarotto, Melanie, Davidson, Iain F., Litos, Gabriele, Schleiffer, Alexander, Peters, Jan-Michael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: National Academy of Sciences 2022
Materias:
Biological Sciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9170158/
https://www.ncbi.nlm.nih.gov/pubmed/35476527
http://dx.doi.org/10.1073/pnas.2201029119

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9170158/
https://www.ncbi.nlm.nih.gov/pubmed/35476527
http://dx.doi.org/10.1073/pnas.2201029119

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