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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Vydáno v:Cell Rep
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Cell Press 2021
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Article
On-line přístup: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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