Article

PAX4 loss of function alters human endocrine cell development and influences diabetes risk

2022-05-15

Abstract excerpt

Diabetes is a major chronic disease with an excessive healthcare burden on society 1 . A coding variant (p.Arg192His) in the transcription factor PAX4 is uniquely and reproducibly associated with an altered risk for type 2 diabetes (T2D) in East Asian populations 2–7 , whilst rare PAX4 alleles have been proposed to cause monogenic diabetes 8 . In mice, Pax4 is essential for beta cell formation but neither th...

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Literature Corpus work: 1d8e929d-78d8-50d8-9190-bc4b4f647b2f
DOI: 10.1101/2022.05.15.491987

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