Ontology highlight
ABSTRACT:
SUBMITTER: Haliyur R
PROVIDER: S-EPMC6307934 | biostudies-literature | 2019 Jan
REPOSITORIES: biostudies-literature
Haliyur Rachana R Tong Xin X Sanyoura May M Shrestha Shristi S Lindner Jill J Saunders Diane C DC Aramandla Radhika R Poffenberger Greg G Redick Sambra D SD Bottino Rita R Prasad Nripesh N Levy Shawn E SE Blind Raymond D RD Harlan David M DM Philipson Louis H LH Stein Roland W RW Brissova Marcela M Powers Alvin C AC
The Journal of clinical investigation 20181203 1
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 heterozygous variant in the gene encoding hepatocyte nuclear factor-1α (HNF1A). In one of t ...[more]