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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Publicado no:Cell Rep
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Cell Press 2021
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8052186/
https://ncbi.nlm.nih.gov/pubmed/33852861
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.celrep.2021.108981
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