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

Summary: 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 sho...

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Bibliographic Details
Main Authors: Ildem Akerman, Miguel Angel Maestro, Elisa De Franco, Vanessa Grau, Sarah Flanagan, Javier García-Hurtado, Gerhard Mittler, Philippe Ravassard, Lorenzo Piemonti, Sian Ellard, Andrew T. Hattersley, Jorge Ferrer
Format: Article
Language:English
Published: Elsevier 2021-04-01
Series:Cell Reports
Subjects:
HIP
Online Access:http://www.sciencedirect.com/science/article/pii/S2211124721002953