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Citations to this article

Human islets expressing HNF1A variant have defective β cell transcriptional regulatory networks
Rachana Haliyur, … , Marcela Brissova, Alvin C. Powers
Rachana Haliyur, … , Marcela Brissova, Alvin C. Powers
Published December 3, 2018
Citation Information: J Clin Invest. 2019;129(1):246-251. https://doi.org/10.1172/JCI121994.
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Concise Communication Endocrinology Article has an altmetric score of 7

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

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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.

Authors

Rachana Haliyur, Xin Tong, May Sanyoura, Shristi Shrestha, Jill Lindner, Diane C. Saunders, Radhika Aramandla, Greg Poffenberger, Sambra D. Redick, Rita Bottino, Nripesh Prasad, Shawn E. Levy, Raymond D. Blind, David M. Harlan, Louis H. Philipson, Roland W. Stein, Marcela Brissova, Alvin C. Powers

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Total citations by year

Year: 2025 2024 2023 2022 2021 2020 2019 2018 Total
Citations: 1 4 12 7 14 9 5 1 53
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Citations to this article in year 2023 (12)

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High-Fat diet plus HNF1A variant promotes polyps by activating β-catenin in early onset colorectal cancer
Heyu Song, Ricky Sontz, Matthew Vance, Sulaiman Sheriff, Suzann Duan, Jiping Zeng, Erika Koeppe, Ritu Pandey, Elena Stoffel, Juanita Merchant
JCI Insight 2023
Human pancreatic capillaries and nerve fibers persist in type 1 diabetes despite beta cell loss
Richardson TM, Saunders DC, Haliyur R, Shrestha S, Cartailler JP, Reinert RB, Petronglo J, Bottino R, Aramandla R, Bradley AM, Jenkins R, Phillips S, Kang H, Caicedo A, Powers AC, Brissova M
American journal of physiology. Endocrinology and metabolism 2023
New approaches to screening and management of neonatal hypoglycemia based on improved understanding of the molecular mechanism of hypoglycemia
Stanley CA, Thornton PS, De Leon DD
Frontiers in Pediatrics 2023
HNF1A binds and regulates the expression of SLC51B to facilitate the uptake of estrone sulfate in human renal proximal tubule epithelial cells.
Chan JW, Neo CWY, Ghosh S, Choi H, Lim SC, Tai ES, Teo AKK
Cell Death and Disease 2023
Two case reports of maturity-onset diabetes of the young type 3 caused by the hepatocyte nuclear factor 1α gene mutation
Wen Q, Li Y, Shao H, Ma J, Lin Y, Sun Y, Liu T
Open Medicine 2023
From glucose sensing to exocytosis: takes from maturity onset diabetes of the young
Samadli S, Zhou Q, Zheng B, Gu W, Zhang A
Frontiers in Endocrinology 2023
HNF1α maintains pancreatic α and β cell functions in primary human islets
Mollie Qian, Romina J Bevacqua, Vy Coykendall, Xiong Liu, Weichen Zhao, Charles Chang, Xueying Gu, Xiao-Qing Dai, Patrick MacDonald, Seung Kim
JCI Insight 2023
Single cell multiomic analysis reveals diabetes-associated β-cell heterogeneity driven by HNF1A.
Weng C, Gu A, Zhang S, Lu L, Ke L, Gao P, Liu X, Wang Y, Hu P, Plummer D, MacDonald E, Zhang S, Xi J, Lai S, Leskov K, Yuan K, Jin F, Li Y
Nature Communications 2023
Islet cells in human type 1 diabetes: from recent advances to novel therapies - a symposium-based roadmap for future research.
Cantley J, Eizirik DL, Latres E, Dayan CM
The Journal of endocrinology 2023
Identification and precision therapy for three maturity-onset diabetes of the young (MODY) families caused by mutations in the HNF4A gene
Zhang J, Jiang Y, Li J, Zou H, Yin L, Yang Y, Yang L
Frontiers in Endocrinology 2023
Fluorescein-based sensors to purify human α-cells for functional and transcriptomic analyses
Kahraman S, Shibue K, De Jesus DF, Kim H, Hu J, Manna D, Wagner B, Choudhary A, Kulkarni RN
eLife 2023
Genetic risk converges on regulatory networks mediating early type 2 diabetes.
Walker JT, Saunders DC, Rai V, Chen HH, Orchard P, Dai C, Pettway YD, Hopkirk AL, Reihsmann CV, Tao Y, Fan S, Shrestha S, Varshney A, Petty LE, Wright JJ, Ventresca C, Agarwala S, Aramandla R, Poffenberger G, Jenkins R, Mei S, Hart NJ, Phillips S, Kang H, Greiner DL, Shultz LD, Bottino R, Liu J, Below JE, Parker SCJ, Powers AC, Brissova M
Nature 2023

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