ArticleThe Journal of clinical investigation2019
Human islets expressing HNF1A variant have defective β cell transcriptional regulatory networks.
Article in The Journal of clinical investigation, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers.
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Who cites it
58 citing papers in PubMed, 75 citations in OpenAlex.
- GIP and GLP-1 Potentiate Sulfonylurea-Induced Insulin Secretion in Hepatocyte Nuclear Factor 1α Mutation Carriers.Diabetes · 2020Trial
- Heterogeneous endocrine cell composition defines human islet functional phenotypes.Nature communications · 2026Article
- Article
- Integrated transcriptome and proteome analyses unveil cytoskeletal alterations in an endothelial model of monogenic diabetes.Genome medicine · 2026Article
- Bridging pancreatic and hepatic development: overlapping genes and their role in diabetes.Cellular & molecular biology letters · 2025Review
- HNF1A and A1CF coordinate a beta cell transcription-splicing axis that is disrupted in type 2 diabetes.Cell metabolism · 2025Article
- Heterogeneous endocrine cell composition defines human islet functional phenotypes.bioRxiv : the preprint server for biology · 2025Article
- Unveiling Gestational Diabetes: An Overview of Pathophysiology and Management.International journal of molecular sciences · 2025Review
- Heterogeneous enhancer states orchestrate β cell responses to metabolic stress.Nature communications · 2024Article
- The age-dependent regulation of pancreatic islet landscape is fueled by a HNF1a-immune signaling loop.Mechanisms of ageing and development · 2024Article
- Maturity-onset diabetes of the young type 3 complicated with type 5: A case report and literature review.Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2024Review
- Causal network perturbation analysis identifies known and novel type-2 diabetes driver genes.bioRxiv : the preprint server for biology · 2024Article
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- Article
- Fluorescein-based sensors to purify human α-cells for functional and transcriptomic analyses.eLife · 2023Article
- Single cell multiomic analysis reveals diabetes-associated β-cell heterogeneity driven by HNF1A.Nature communications · 2023Article
- Islet cells in human type 1 diabetes: from recent advances to novel therapies - a symposium-based roadmap for future research.The Journal of endocrinology · 2023Review
- High-fat diet plus HNF1A variant promotes polyps by activating β-catenin in early-onset colorectal cancer.JCI insight · 2023Article
- HNF1A binds and regulates the expression of SLC51B to facilitate the uptake of estrone sulfate in human renal proximal tubule epithelial cells.Cell death & disease · 2023Article
- HNF1α upregulation and promoter hypermethylation as a cause of glucose dysregulation: a case-control study of Kashmiri MODY population.Journal of endocrinological investigation · 2023Article
Corrections and comments
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Authors and funding
18 authors at 6 institutions in 1 country.
Funding
Abstract
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 the first studies of human pancreatic islets with a disease-causing HNF1A variant associated with the most common form of monogenic diabetes, we found that HNF1A dysfunction leads to insulin-insufficient diabetes reminiscent of T1D by impacting the regulatory processes critical for glucose-stimulated insulin secretion and suggest a rationale for a therapeutic alternative to current treatment.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.