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

R Haliyur, X Tong, M Sanyoura… - The Journal of …, 2019 - Am Soc Clin Investig
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 …

Loss of HNF-1α function in mice leads to abnormal expression of genes involved in pancreatic islet development and metabolism

DQ Shih, S Screenan, KN Munoz, L Philipson… - Diabetes, 2001 - Am Diabetes Assoc
Mutations in hepatocyte nuclear factor 1α (HNF-1 α) lead to maturity-onset diabetes of the
young type 3 as a result of impaired insulin secretory response in pancreatic β-cells. The …

Dissecting the transcriptional network of pancreatic islets during development and differentiation

DQ Shih, M Stoffel - … of the National Academy of Sciences, 2001 - National Acad Sciences
Maturity onset diabetes of the young (MODY) is a heterogenous, monogenic disease that is
characterized by an autosomal dominant inheritance and an early disease onset, usually …

Reduced calcium levels and accumulation of abnormal insulin granules in stem cell models of HNF1A deficiency

BJ González, H Zhao, J Niu, DJ Williams, J Lee… - Communications …, 2022 - nature.com
Mutations in HNF1A cause Maturity Onset Diabetes of the Young (HNF1A-MODY). To
understand mechanisms of β-cell dysfunction, we generated stem cell-derived pancreatic …

[HTML][HTML] Molecular targets of a human HNF1α mutation responsible for pancreatic β‐cell dysfunction

H Wang, PA Antinozzi, KA Hagenfeldt… - The EMBO …, 2000 - embopress.org
The reverse tetracycline‐dependent transactivator system was employed in insulinoma INS‐
1 cells to achieve controlled inducible expression of hepatocyte nuclear factor‐1α (HNF1α) …

Persistent expression of HNF6 in islet endocrine cells causes disrupted islet architecture and loss of beta cell function

M Gannon, MK Ray, KV Zee, F Rausa… - …, 2000 - journals.biologists.com
We used transgenesis to explore the requirement for downregulation of hepatocyte nuclear
factor 6 (HNF6) expression in the assembly, differentiation, and function of pancreatic islets …

Overexpression of dominant-negative mutant hepatocyte nuclear factor-1α in pancreatic β-cells causes abnormal islet architecture with decreased expression of E …

K Yamagata, T Nammo, M Moriwaki, A Ihara… - Diabetes, 2002 - Am Diabetes Assoc
One subtype of maturity-onset diabetes of the young (MODY)-3 results from mutations in the
gene encoding hepatocyte nuclear factor (HNF)-1α. We generated transgenic mice …

Epistasis of transcriptomes reveals synergism between transcriptional activators Hnf1α and Hnf4α

SF Boj, D Petrov, J Ferrer - PLoS genetics, 2010 - journals.plos.org
The transcription of individual genes is determined by combinatorial interactions between
DNA–binding transcription factors. The current challenge is to understand how such …

A genetic switch in pancreatic β-cells: implications for differentiation and haploinsufficiency

J Ferrer - Diabetes, 2002 - Am Diabetes Assoc
Heterozygous mutations in the genes encoding transcriptional regulators hepatocyte
nuclear factor (HNF)-1α and HNF-4α cause a form of diabetes known as maturity-onset …

Genetic evidence that HNF-1α–dependent transcriptional control of HNF-4α is essential for human pancreatic β cell function

SK Hansen, M Párrizas, ML Jensen… - The Journal of …, 2002 - Am Soc Clin Investig
Mutations in the genes encoding hepatocyte nuclear factor 4α (HNF-4α) and HNF-1α impair
insulin secretion and cause maturity onset diabetes of the young (MODY). HNF-4α is known …