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HNF1A and A1CF coordinate a beta cell transcription-splicing axis that is disrupted in type 2 diabetes

6 Aug 2025

Abstract excerpt

Type 2 diabetes (T2D) is a devastating chronic disease marked by pancreatic β cell dysfunction and insulin resistance, whose pathophysiology remains poorly understood. HNF1A, which encodes transcription factor hepatocyte nuclear factor-1 alpha, is the most commonly mutated gene in Mendelian diabetes. HNF1A also carries loss- or gain-of-function coding variants that respectively predispose to or protect against...

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PMID: 40774250
DOI: 10.1016/j.cmet.2025.07.007

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