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Human islets expressing HNF1A variant have defective β cell transcriptional regulatory networks

3 Dec 2018

Abstract excerpt

Using an integrated approach to characterize the pancreatic tissue and isolated islets from a 33-year-old with 17 years of type 1 diabetes (T1D), we found that donor islets contained β cells without insulitis and lacked glucose-stimulated insulin secretion despite a normal insulin response to cAMP-evoked stimulation. With these unexpected findings for T1D, we sequenced the donor DNA and found a pathogenic...

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PMID: 30507613
DOI: 10.1172/jci121994

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