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PAX4 loss of function increases diabetes risk by altering human pancreatic endocrine cell development

30 Sept 2023

Abstract excerpt

The coding variant (p.Arg192His) in the transcription factor PAX4 is associated with an altered risk for type 2 diabetes (T2D) in East Asian populations. In mice, Pax4 is essential for beta cell formation but its role on human beta cell development and/or function is unknown. Participants carrying the PAX4 p.His192 allele exhibited decreased pancreatic beta cell function compared to homozygotes for the p.192Arg...

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PMID: 37777536
DOI: 10.1038/s41467-023-41860-z

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