Loss of Extreme Long-Range Enhancers in Human Neural Crest Drives a Craniofacial Disorder

Non-coding mutations at the far end of a large gene desert surrounding the SOX9 gene result in a human craniofacial disorder called Pierre Robin sequence (PRS). Leveraging a human stem cell differentiation model, we identify two clusters of enhancers within the PRS-associated region that regulate SO...

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Detalles Bibliográficos
Autores principales: Long, Hannah K., Osterwalder, Marco, Welsh, Ian C., Hansen, Karissa, Davies, James O.J., Liu, Yiran E., Koska, Mervenaz, Adams, Alexander T., Aho, Robert, Arora, Neha, Ikeda, Kazuya, Williams, Ruth M., Sauka-Spengler, Tatjana, Porteus, Matthew H., Mohun, Tim, Dickel, Diane E., Swigut, Tomek, Hughes, Jim R., Higgs, Douglas R., Visel, Axel, Selleri, Licia, Wysocka, Joanna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cell Press 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7655526/
https://www.ncbi.nlm.nih.gov/pubmed/32991838
http://dx.doi.org/10.1016/j.stem.2020.09.001

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7655526/
https://www.ncbi.nlm.nih.gov/pubmed/32991838
http://dx.doi.org/10.1016/j.stem.2020.09.001

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