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Neonatal diabetes mutations disrupt a chromatin pioneering function that activates the human insulin gene

Despite the central role of chromosomal context in gene transcription, human noncoding DNA variants are generally studied outside of their genomic location. This limits our understanding of disease-causing regulatory variants. INS promoter mutations cause recessive neonatal diabetes. We show that al...

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Detalles Bibliográficos
Autores principales: Akerman, Ildem, Maestro, Miguel Angel, De Franco, Elisa, Grau, Vanessa, Flanagan, Sarah, García-Hurtado, Javier, Mittler, Gerhard, Ravassard, Philippe, Piemonti, Lorenzo, Ellard, Sian, Hattersley, Andrew T., Ferrer, Jorge
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cell Press 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8052186/
https://www.ncbi.nlm.nih.gov/pubmed/33852861
http://dx.doi.org/10.1016/j.celrep.2021.108981