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Journal articles on the topic 'Hepatocyte-Nuclear-Factor -1-A (HNF1A)'

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Published: 15 June 2024

Last updated: 31 July 2025

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1

Mehdi, Alina Z., Lily Deng, Colby L. Chase, et al. "GLP-1 RA and dual GIP/GLP-1 RA treatment in MODY: a descriptive case series." BMJ Open Diabetes Research & Care 13, no. 2 (2025): e004885. https://doi.org/10.1136/bmjdrc-2024-004885.

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IntroductionGlucagon-like peptide-1 receptor agonists (GLP-1 RA) and dual glucose insulinotropic polypeptide (GIP)/GLP-1 RA are widely prescribed, but their effectiveness in different subtypes of maturity-onset diabetes of the young (MODY) is unknown.Research design and methodsWe present a descriptive case series of individuals from two MODY cohorts who used GLP-1 RA or dual GIP/GLP-1 RA. Pairedttests were used to compare HbA1c, body mass index (BMI), and sulfonylurea (SU) dose before and after GLP-1 RA or dual GIP/GLP-1 RA therapy.Results10 individuals (4 hepatocyte nuclear factor-1α (HNF1A)-

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Ozsu, Elif, Filiz Mine Cizmecioglu, Gul Yesiltepe Mutlu, et al. "Maturity Onset Diabetes of the Young due to Glucokinase, HNF1-A, HNF1-B, and HNF4-A Mutations in a Cohort of Turkish Children Diagnosed as Type 1 Diabetes Mellitus." Hormone Research in Paediatrics 90, no. 4 (2018): 257–65. http://dx.doi.org/10.1159/000494431.

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Background/Aims: Maturity onset diabetes of the young (MODY) is a rare condition often misdiagnosed as type 1 diabetes (T1D). The purposes of this study were: to identify any patients followed in a large Turkish cohort as T1D, with an atypical natural history, who may in fact have MODY, and to define the criteria which would indicate patients with likely MODY as early as possible after presentation to allow prompt genetic testing. Methods: Urinary C-peptide/creatinine ratio (UCPCR) was studied in 152 patients having a diagnosis of T1D for at least 3 years. Those with a UCPCR ≥0.2 nmol/mmol wer

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Au, Wo-Shing, Liwei Lu, Chung-Man Yeung, et al. "Hepatocyte nuclear factor 1 binding element within the promoter of microsomal triglyceride transfer protein (MTTP) gene is crucial for MTTP basal expression and insulin responsiveness." Journal of Molecular Endocrinology 41, no. 4 (2008): 229–38. http://dx.doi.org/10.1677/jme-08-0080.

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Insulin inhibits the transcription of the microsomal triglyceride transfer protein (MTTP), which plays a pivotal role in lipoprotein assembly and secretion. Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP promoter serves as a novel negative insulin-responsive element. Deletion/mutation mapping of the MTTP gene promoter identified a modified HNF1A element that is crucial to the negative insulin effect. Chimeric promoter containing this HNF1A element and minimal TEAD1 promoter also responded negatively toward insulin treatment. Gel shi

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4

Tudor, Lucija, Marcela Konjevod, Gordana Nedic Erjavec та ін. "Genetic and Epigenetic Association of Hepatocyte Nuclear Factor-1α with Glycosylation in Post-Traumatic Stress Disorder". Genes 13, № 6 (2022): 1063. http://dx.doi.org/10.3390/genes13061063.

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Post-traumatic stress disorder (PTSD) is a complex trauma-related disorder, the etiology and underlying molecular mechanisms of which are still unclear and probably involve different (epi)genetic and environmental factors. Protein N-glycosylation is a common post-translational modification that has been associated with several pathophysiological states, including inflammation and PTSD. Hepatocyte nuclear factor-1α (HNF1A) is a transcriptional regulator of many genes involved in the inflammatory processes, and it has been identified as master regulator of plasma protein glycosylation. The aim o

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Bonzo, Jessica A., Andrew D. Patterson, Kristopher W. Krausz та Frank J. Gonzalez. "Metabolomics Identifies Novel Hnf1α-Dependent Physiological Pathways in Vivo". Molecular Endocrinology 24, № 12 (2010): 2343–55. http://dx.doi.org/10.1210/me.2010-0130.

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Abstract Mutations in the HNF1A gene cause maturity-onset diabetes of the young type 3, one of the most common genetic causes of non-insulin-dependent (type 2) diabetes mellitus. Although the whole-body Hnf1a-null mouse recapitulates the low insulin levels and high blood glucose observed in human maturity-onset diabetes of the young type 3 patients, these mice also suffer from Laron dwarfism and aminoaciduria, suggesting a role for hepatocyte nuclear factor 1α (Hnf1α) in pathophysiologies distinct from non-insulin-dependent (type 2) diabetes mellitus. In an effort to identify pathways associat

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Chen, Yinling, Jianxin Jia, Qing Zhao та ін. "Novel Loss-of-Function Variant in HNF1a Induces β-Cell Dysfunction through Endoplasmic Reticulum Stress". International Journal of Molecular Sciences 23, № 21 (2022): 13022. http://dx.doi.org/10.3390/ijms232113022.

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Heterozygous variants in the hepatocyte nuclear factor 1a (HNF1a) cause MODY3 (maturity-onset diabetes of the young, type 3). In this study, we found a case of novel HNF1a p.Gln125* (HNF1a-Q125ter) variant clinically. However, the molecular mechanism linking the new HNF1a variant to impaired islet β-cell function remains unclear. Firstly, a similar HNF1a-Q125ter variant in zebrafish (hnf1a+/−) was generated by CRISPR/Cas9. We further crossed hnf1a+/− with several zebrafish reporter lines to investigate pancreatic β-cell function. Next, we introduced HNF1a-Q125ter and HNF1a shRNA plasmids into

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7

Liu, Rui, Hanning Liu, Haiyong Gu, et al. "A Polymorphism inHepatocyte Nuclear Factor 1 Alpha,rs7310409, Is Associated with Left Main Coronary Artery Disease." Biochemistry Research International 2014 (2014): 1–7. http://dx.doi.org/10.1155/2014/924105.

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Coronary artery disease is the leading cause of mortality and morbidity in the world. Left main coronary artery disease (LMCAD) is a particularly severe phenotypic form of CAD and has a genetic basis. We hypothesized that some inflammation- and hyperhomocysteinemia-related gene polymorphisms may contribute to LMCAD susceptibility in a Chinese population. We studied the association between polymorphisms in the genes hepatocyte nuclear factor 1 alpha (HNF1A; rs7310409, G/A), C-reactive protein (rs1800947 and rs3093059 T/C), methylenetetrahydrofolate reductase (rs1801133, C/T), and methylenetetra

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8

Demus, Daniel, Paulina A. Urbanowicz, Richard A. Gardner та ін. "Development of an exoglycosidase plate-based assay for detecting α1-3,4 fucosylation biomarker in individuals with HNF1A-MODY". Glycobiology 32, № 3 (2021): 230–38. http://dx.doi.org/10.1093/glycob/cwab107.

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Abstract Maturity-onset diabetes of the young due to hepatocyte nuclear factor-1 alpha variants (HNF1A-MODY) causes monogenic diabetes. Individuals carrying damaging variants in HNF1A show decreased levels of α1-3,4 fucosylation, as demonstrated on antennary fucosylation of blood plasma N-glycans. The excellent diagnostic performance of this glycan biomarker in blood plasma N-glycans of individuals with HNF1A-MODY has been demonstrated using liquid chromatography methods. Here, we have developed a high-throughput exoglycosidase plate-based assay to measure α1-3,4 fucosylation levels in blood p

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9

Dallali, Hamza, Meriem Hechmi, Imane Morjane, et al. "Association of HNF1A gene variants and haplotypes with metabolic syndrome: a case–control study in the Tunisian population and a meta-analysis." Diabetology & Metabolic Syndrome 14, no. 1 (2022): 25. https://doi.org/10.1186/s13098-022-00794-0.

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<strong>Background: </strong>Variants in the Hepatocyte Nuclear Factor 1 Alpha gene (<i>HNF1A</i>) are associated with lipoproteins levels and type 2 diabetes. In this study, we aimed to assess the association of <i>HNF1A</i> gene and haplotypes with the metabolic syndrome (MetS) and its components through an association study in the Tunisian population as well as by a meta-analysis.<strong>Methods: </strong>A total of 594 Tunisian individuals were genotyped for three variants (rs1169288, rs2464196 and rs735396) located in <i>HNF1A</i> gene using KASPar technology. Statistical analyses were pe

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10

Ma, Yumin, Siqian Gong, Xirui Wang, et al. "New clinical screening strategy to distinguish HNF1A variant-induced diabetes from young early-onset type 2 diabetes in a Chinese population." BMJ Open Diabetes Research & Care 8, no. 1 (2020): e000745. http://dx.doi.org/10.1136/bmjdrc-2019-000745.

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ObjectiveMaturity-onset diabetes of the young caused by hepatocyte nuclear factor-1 alpha (HNF1A) variants (HNF1A-MODY) is a common form of monogenetic diabetes. Although patients with HNF1A-MODY might specifically benefit from sulfonylurea treatment, available methods for screening this specific type of diabetes are not cost-effective. This study was designed to establish an optimized clinical strategy based on multiple biomarkers to distinguish patients with HNF1A-MODY from clinically diagnosed early-onset type 2 diabetes (EOD) for genetic testing in a Chinese population.Research design and

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11

Pace, Nikolai Paul, Christopher Rizzo, Alexia Abela, et al. "Identification of an HNF1A p.Gly292fs Frameshift Mutation Presenting as Diabetes During Pregnancy in a Maltese Family." Clinical Medicine Insights: Case Reports 12 (January 2019): 117954761983103. http://dx.doi.org/10.1177/1179547619831034.

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The diagnosis of maturity onset diabetes of the young (MODY) is a challenging process in view of the extensive clinical and genetic heterogeneity of the disease. Mutations in the gene encoding hepatocyte nuclear factor 1α ( HNF1A) are responsible for most forms of monogenic diabetes in Northern European populations. Genetic analysis through a combination of whole exome sequencing and Sanger sequencing in three Maltese siblings and their father identified a rare duplication/frameshift mutation in exon 4 of HNF1A that lies within a known mutational hotspot in this gene. In this report, we provid

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Gan, Hoong-Wei, Jayesh Mahendra Bhatt, Louise Denvir, Tabitha Randell, and Pooja Sachdev. "Monogenic diabetes mellitus in cystic fibrosis." Archives of Disease in Childhood 104, no. 9 (2018): 887–89. http://dx.doi.org/10.1136/archdischild-2018-316141.

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We present a non-consanguineous family of three siblings who presented with diabetes mellitus (DM), two of whom had genetically confirmed cystic fibrosis (CF), with one pancreatic-sufficient mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene (ΔF508/R117H;IVS8-5T). A detailed history revealed family members from three successive generations diagnosed with ‘type 1’ or ‘type 2’ diabetes, leading to genetic investigations for monogenic DM. A heterozygous frameshift mutation in the hepatocyte nuclear factor 1 homeobox alpha (HNF1A) gene (c.404delA) was subsequently conf

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Malikova, Jana, Alba Kaci, Petra Dusatkova, et al. "Functional Analyses of HNF1A-MODY Variants Refine the Interpretation of Identified Sequence Variants." Journal of Clinical Endocrinology & Metabolism 105, no. 4 (2020): e1377-e1386. http://dx.doi.org/10.1210/clinem/dgaa051.

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Abstract Context While rare variants of the hepatocyte nuclear factor-1 alpha (HNF1A) gene can cause maturity-onset diabetes of the young (HNF1A-MODY), other variants can be risk factors for the development of type 2 diabetes. As has been suggested by the American College of Medical Genetics (ACMG) guidelines for variant interpretation, functional studies provide strong evidence to classify a variant as pathogenic. Objective We hypothesized that a functional evaluation can improve the interpretation of the HNF1A variants in our Czech MODY Registry. Design, Settings, and Participants We studied

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14

Zhang, Chuanhui, Fei Xie, Ling Li, et al. "Hepatocyte nuclear factor 1 alpha (HNF1A) regulates transcription of O ‐GlcNAc transferase in a negative feedback mechanism." FEBS Letters 593, no. 10 (2019): 1050–60. http://dx.doi.org/10.1002/1873-3468.13381.

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15

Jeeyavudeen, Mohammad Sadiq, Sarah R. Murray, and Mark W. J. Strachan. "Management of monogenic diabetes in pregnancy: A narrative review." World Journal of Diabetes 15, no. 1 (2024): 15–23. http://dx.doi.org/10.4239/wjd.v15.i1.15.

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Pregnancy in women with monogenic diabetes is potentially complex, with significant implications for both maternal and fetal health. Among these, maturity-onset diabetes of the young (MODY) stands out as a prevalent monogenic diabetes subtype frequently encountered in clinical practice. Each subtype of MODY requires a distinct approach tailored to the pregnancy, diverging from management strategies in non-pregnant individuals. Glucokinase MODY (GCK-MODY) typically does not require treatment outside of pregnancy, but special considerations arise when a woman with GCK-MODY becomes pregnant. The

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16

Nault, Jean Charles, and Jessica Zucman Rossi. "Molecular Classification of Hepatocellular Adenomas." International Journal of Hepatology 2013 (2013): 1–7. http://dx.doi.org/10.1155/2013/315947.

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Hepatocellular adenomas (HCAs) are benign tumors developed in normal liver most frequently in women before menopause. HCAs lead to diagnostic pitfalls and several difficulties to assess the risk of malignant transformation in these young patients. Recent advances in basic knowledge have revealed a molecular classification related to risk factors, pathological features, and risk of transformation in hepatocellular carcinoma. Three major molecular pathways have been identified altered in specific HCA subgroups that are defined by either (1) inactivation of hepatocyte nuclear factor 1A (HNF1A) tr

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Ming-Qiang, Zhu, Dai Yang-Li, Huang Ke, et al. "Maturity onset diabetes of the young (MODY) in Chinese children: genes and clinical phenotypes." Journal of Pediatric Endocrinology and Metabolism 32, no. 7 (2019): 759–65. http://dx.doi.org/10.1515/jpem-2018-0446.

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Abstract Background To investigate the clinical and molecular characteristics of Chinese children with maturity onset diabetes of the young (MODY). Methods A total of 42 Chinese patients suspected MODY referred to our unit from 2014 to 2018 were enrolled. Mutational analysis of monogenic diabetes mellitus genes was performed by next-generation sequencing and confirmed by Sanger sequencing. Results There were 28 males (66.7%) and 14 females (33.3%) with a mean age of 9.49 ± 3.46 years (range, 1.4–15.3 years) and a mean birth weight of 3.38 ± 0.49 kg (range, 2.55–4.90 kg). Among these patients,

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CARRIÈRE, Véronique, Michel LACASA та Monique ROUSSET. "Activity of hepatocyte nuclear factor 1α and hepatocyte nuclear factor 1β isoforms is differently affected by the inhibition of protein phosphatases 1/2A". Biochemical Journal 354, № 2 (2001): 301–8. http://dx.doi.org/10.1042/bj3540301.

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Phosphorylation/dephosphorylation processes are known to control the activity of several transcription factors. The nutrition-dependent expression of sucrase–isomaltase and Na+/glucose co-transporter 1, two proteins implicated in the intestinal absorption of glucose, has been shown to be closely related to modifications of hepatocyte nuclear factor 1 (HNF1) activity. This study was conducted to determine whether phosphorylation/dephosphorylation processes could control HNF1 activity. We show that expression of the gene encoding sucrase–isomaltase is inhibited in the enterocytic Caco-2 clone TC

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Vashi, Neeti, Carolina Stryjecki, Jesus Peralta-Romero, et al. "Genetic markers of inflammation may not contribute to metabolic traits in Mexican children." PeerJ 4 (June 23, 2016): e2090. http://dx.doi.org/10.7717/peerj.2090.

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Background:Low-grade chronic inflammation is a common feature of obesity and its cardio-metabolic complications. However, little is known about a possible causal role of inflammation in metabolic disorders. Mexico is among the countries with the highest obesity rates in the world and the admixed Mexican population is a relevant sample due to high levels of genetic diversity.Methods:Here, we studied 1,462 Mexican children recruited from Mexico City. Six genetic variants in five inflammation-related genes were genotyped: rs1137101 (leptin receptor (LEPR)), rs7305618 (hepatocyte nuclear factor 1

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Armanios, Beshoy, Jing Jin, Holly Kolmel, et al. "Unraveling the Regulatory Impact of LncRNA Hnf1aos1 on Hepatic Homeostasis in Mice." Non-Coding RNA 11, no. 4 (2025): 52. https://doi.org/10.3390/ncrna11040052.

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Background/Objectives: Long non-coding RNAs (lncRNAs) play significant roles in tissue development and disease progression and have emerged as crucial regulators of gene expression. The hepatocyte nuclear factor alpha antisense RNA 1 (HNF1A-AS1) lncRNA is a particularly intriguing regulatory molecule in liver biology that is involved in the regulation of cytochrome P450 enzymes via epigenetic mechanisms. Despite the growing recognition of lncRNAs in liver disease, the comprehensive role of HNF1A-AS1 in liver function remains unclear. This study aimed to investigate the roles of the mouse homol

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Grzanka, Malgorzata, Bartlomiej Matejko, Magdalena Szopa, Beata Kiec-Wilk, Maciej T. Malecki, and Tomasz Klupa. "Assessment of Newly Proposed Clinical Criteria to IdentifyHNF1AMODY in Patients with an Initial Diagnosis of Type 1 or Type 2 Diabetes Mellitus." Advances in Medicine 2016 (2016): 1–3. http://dx.doi.org/10.1155/2016/4243784.

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The most common form of maturity-onset diabetes of the young (MODY) is caused by mutations in the hepatocyte nuclear factor 1A (HNF1A) gene. However, mostHNF1Amutation-carriers are initially misdiagnosed with type 1 (T1DM) or type 2 (T2DM) diabetes mellitus; hence, they often receive nonoptimal treatment. The aim of our study was to test newly proposed clinical criteria for the identification ofHNF1AMODY in patients with a diagnosis of T1DM or T2DM. To achieve this, the following criteria to preselect patients for screening were used: for T1DM: TDIR (total daily insulin requirement) > 0.3 I

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Haddouche, Aini, Christine Bellanne‐Chantelot, Anne Rod, et al. "Liver adenomatosis in patients with hepatocyte nuclear factor‐1 alpha maturity onset diabetes of the young ( HNF1A ‐MODY): Clinical, radiological and pathological characteristics in a French series." Journal of Diabetes 12, no. 1 (2019): 48–57. http://dx.doi.org/10.1111/1753-0407.12959.

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Holst, Stephanie, Jennifer Wilding, Kamila Koprowska, Yoann Rombouts, and Manfred Wuhrer. "N-Glycomic and Transcriptomic Changes Associated with CDX1 mRNA Expression in Colorectal Cancer Cell Lines." Cells 8, no. 3 (2019): 273. http://dx.doi.org/10.3390/cells8030273.

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The caudal-related homeobox protein 1 (CDX1) is a transcription factor, which is important in the development, differentiation, and homeostasis of the gut. Although the involvement of CDX genes in the regulation of the expression levels of a few glycosyltransferases has been shown, associations between glycosylation phenotypes and CDX1 mRNA expression have hitherto not been well studied. Triggered by our previous study, we here characterized the N-glycomic phenotype of 16 colon cancer cell lines, selected for their differential CDX1 mRNA expression levels. We found that high CDX1 mRNA expressi

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Griscelli, Frank, Hélène Ezanno, Mathis Soubeyrand, et al. "Generation of an induced pluripotent stem cell (iPSC) line from a patient with maturity-onset diabetes of the young type 3 (MODY3) carrying a hepatocyte nuclear factor 1-alpha ( HNF1A ) mutation." Stem Cell Research 29 (May 2018): 56–59. http://dx.doi.org/10.1016/j.scr.2018.02.017.

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Østoft, Signe Harring, Jonatan Ising Bagger, Torben Hansen, et al. "Postprandial incretin and islet hormone responses and dipeptidyl-peptidase 4 enzymatic activity in patients with maturity onset diabetes of the young." European Journal of Endocrinology 173, no. 2 (2015): 205–15. http://dx.doi.org/10.1530/eje-15-0070.

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ObjectiveThe role of the incretin hormones in the pathophysiology of maturity onset diabetes of the young (MODY) is unclear.DesignWe studied the postprandial plasma responses of glucagon, incretin hormones (glucagon-like peptide 1 (GLP1) and glucose-dependent insulinotropic polypeptide (GIP)) and dipeptidyl-peptidase 4 (DPP4) enzymatic activity in patients with glucokinase (GCK) diabetes (MODY2) and hepatocyte nuclear factor 1α (HNF1A) diabetes (MODY3) as well as in matched healthy individuals (CTRLs).Subjects and methodsTen patients with MODY2 (mean age±s.e.m.43±5 years; BMI 24±2 kg/m2; fasti

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PONTOGLIO, MARCO. "Hepatocyte Nuclear Factor 1, a Transcription Factor at the Crossroads of Glucose Homeostasis." Journal of the American Society of Nephrology 11, suppl 2 (2000): S140—S143. http://dx.doi.org/10.1681/asn.v11suppl_2s140.

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Abstract. Hepatocyte nuclear factor 1 (HNF1) is a transcription factor involved in the regulation of a large set of hepatic genes, including albumin, β-fibrinogen, and α1-antitrypsin. HNF1 is expressed in the liver, digestive tract, pancreas, and kidney. Mice lacking HNF1 exhibit hepatic, pancreatic, and renal dysfunctions. HNF1-deficient mice fail to express the hepatic phenylalanine hydroxylase gene, giving rise to hyperphenylalaninemia. Renal proximal tubular reabsorption of glucose, phosphate, arginine, and other metabolites is affected, producing severe renal glucosuria, phosphaturia, and

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Bártů, Michaela, P. Dundr, K. Němejcová, I. Tichá, H. Hojný, and N. Hájková. "The Role of HNF1B in Tumorigenesis of Solid Tumours: a Review of Current Knowledge." Folia Biologica 64, no. 3 (2018): 71–83. http://dx.doi.org/10.14712/fb2018064030071.

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Hepatocyte nuclear factor 1-β is a transcription factor which plays a crucial role during ontogenesis in the differentiation of visceral endoderm from primitive endoderm, and is especially important for the normal development of the kidney, urogenital tract, gastrointestinal tract, liver, and pancreas. Despite the growing knowledge about the potential involvement of hepatocyte nuclear factor 1-β in the process of carcinogenesis, the exact underlying mechanism that would explain its rather varied effects in different tumours has not been sufficiently investigated. Most of the data regarding the

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MCNAIR, Alan, Silvia CEREGHINI, Heike BRAND, Terry SMITH, Christelle BREILLAT, and Frank GANNON. "Synergistic activation of the Atlantic salmon hepatocyte nuclear factor (HNF) 1 promoter by the orphan nuclear receptors HNF4 and chicken ovalbumin upstream promoter transcription factor I (COUP-TFI)." Biochemical Journal 352, no. 2 (2000): 557–64. http://dx.doi.org/10.1042/bj3520557.

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Hepatocyte nuclear factor 1 (HNF1) is a liver-enriched transcription factor that plays an important role in transcriptional networks involved in liver function. The promoters of mammalian HNF1 genes contains a single binding site for another liver-enriched transcription factor, the nuclear hormone receptor HNF4. A transcriptional hierarchy involving HNF4-mediated activation of the HNF1 promoter has been proposed to be of crucial importance in maintaining the differentiated hepatocyte phenotype. Here we present evidence that the Atlantic salmon HNF1 promoter contains three nuclear-hormone-recep

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Sucajtys-Szulc, Elzbieta, Alicja Debska-Slizien, Boleslaw Rutkowski, Marek Szolkiewicz, Julian Swierczynski та Ryszard Tomasz Smolenski. "Hepatocyte Nuclear Factor 1α Proinflammatory Effect Linked to the Overexpression of Liver Nuclear Factor–κB in Experimental Model of Chronic Kidney Disease". International Journal of Molecular Sciences 23, № 16 (2022): 8883. http://dx.doi.org/10.3390/ijms23168883.

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Chronic kidney disease (CKD) is associated with low-grade inflammation that activates nuclear factor–κB (NF–κB), which upregulates the expression of numerous NF–κB responsive genes, including the genes encoding IL-6, ICAM-1, VCAM-1, and MCP-1. Herein, we found the coordinated overexpression of genes encoding RelA/p65 (a subunit of NF–κB) and HNF1α in the livers of chronic renal failure (CRF) rats—an experimental model of CKD. The coordinated overexpression of RelA/p65 and HNF1α was associated with a significant increase in IL-6, ICAM-1, VCAM-1, and MCP-1 gene expressions. A positive correlatio

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Chaya, D., C. Fougère-Deschatrette, and M. C. Weiss. "Liver-enriched transcription factors uncoupled from expression of hepatic functions in hepatoma cell lines." Molecular and Cellular Biology 17, no. 11 (1997): 6311–20. http://dx.doi.org/10.1128/mcb.17.11.6311.

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Among the liver-enriched transcription factors identified to date, only expression of hepatocyte nuclear factor 4 (HNF4) and hepatocyte nuclear factor 1 (HNF1) is in strict correlation with hepatic differentiation in cultured rat hepatoma cells. Indeed, differentiated hepatoma cells that stably express an extensive set of adult hepatic functions express liver-enriched transcription factors, while dedifferentiated cells that have lost expression of all these hepatic functions no longer express HNF4 and HNF1. We describe a new heritable phenotype, designated as uncoupled, in which there is a spo

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Vaulont, S., N. Puzenat, A. Kahn, and M. Raymondjean. "Analysis by cell-free transcription of the liver-specific pyruvate kinase gene promoter." Molecular and Cellular Biology 9, no. 10 (1989): 4409–15. http://dx.doi.org/10.1128/mcb.9.10.4409-4415.1989.

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A DNA fragment spanning nucleotides -183 to -4 with respect to the cap site of the rat L-type pyruvate kinase (L-PK) gene contains at least four binding sites for putative transcriptional factors: hepatocyte nuclear factor 1 (HNF1), liver factor A1 (LF-A1), nuclear factor 1 (NF1), and major late transcription factor (MLTF). This fragment was used to direct transcription of a reporter sequence (a G-free cassette) in cell extracts. This L-PK promoter was active in liver nuclear extracts, but not in extracts from nonhepatic tissues. A reduction of 50% of the activity was obtained with a deleted L

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Vaulont, S., N. Puzenat, A. Kahn, and M. Raymondjean. "Analysis by cell-free transcription of the liver-specific pyruvate kinase gene promoter." Molecular and Cellular Biology 9, no. 10 (1989): 4409–15. http://dx.doi.org/10.1128/mcb.9.10.4409.

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A DNA fragment spanning nucleotides -183 to -4 with respect to the cap site of the rat L-type pyruvate kinase (L-PK) gene contains at least four binding sites for putative transcriptional factors: hepatocyte nuclear factor 1 (HNF1), liver factor A1 (LF-A1), nuclear factor 1 (NF1), and major late transcription factor (MLTF). This fragment was used to direct transcription of a reporter sequence (a G-free cassette) in cell extracts. This L-PK promoter was active in liver nuclear extracts, but not in extracts from nonhepatic tissues. A reduction of 50% of the activity was obtained with a deleted L

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Hayhurst, Graham P., Ying-Hue Lee, Gilles Lambert, Jerrold M. Ward та Frank J. Gonzalez. "Hepatocyte Nuclear Factor 4α (Nuclear Receptor 2A1) Is Essential for Maintenance of Hepatic Gene Expression and Lipid Homeostasis". Molecular and Cellular Biology 21, № 4 (2001): 1393–403. http://dx.doi.org/10.1128/mcb.21.4.1393-1403.2001.

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ABSTRACT The numerous functions of the liver are controlled primarily at the transcriptional level by the concerted actions of a limited number of hepatocyte-enriched transcription factors (hepatocyte nuclear factor 1α [HNF1α], -1β, -3α, -3β, -3γ, -4α, and -6 and members of the c/ebp family). Of these, only HNF4α (nuclear receptor 2A1) and HNF1α appear to be correlated with the differentiated phenotype of cultured hepatoma cells. HNF1α-null mice are viable, indicating that this factor is not an absolute requirement for the formation of an active hepatic parenchyma. In contrast, HNF4α-null mice

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Prestin, Katharina, Janine Hussner, Celio Ferreira та ін. "Regulation of PDZ domain-containing 1 (PDZK1) expression by hepatocyte nuclear factor-1α (HNF1α) in human kidney". American Journal of Physiology-Renal Physiology 313, № 4 (2017): F973—F983. http://dx.doi.org/10.1152/ajprenal.00650.2016.

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In the renal proximal tubule the secretion and reabsorption of glomerularly filtrated compounds is realized by a functional network of uptake and efflux transporters. The activity and localization of several transporters expressed at the apical tubular membrane are regulated by the membrane-associated protein PDZ domain-containing 1 (PDZK1). We aimed to characterize the transcriptional regulation of this modulator of renal transport. Coexpression analyses of PDZK1 and putative regulators were performed using human kidney samples. Protein and mRNA expression of PDZK1 in renal proximal tubule ep

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Montgomery, Emma K., and John A. Sayer. "FP054PHENOTYPIC ANALYSIS OF A COHORT OF PATIENTS WITH HEPATOCYTE NUCLEAR FACTOR 1 BETA (HNF1b) MUTATIONS." Nephrology Dialysis Transplantation 30, suppl_3 (2015): iii82—iii83. http://dx.doi.org/10.1093/ndt/gfv167.10.

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Veerareddy, Sudiksha, Saigopala Reddy, Mauricio Barreto, Niharika Vedherey, and Vani V. Gopalareddy. "Increased Liver Enzymes: An Under-Recognized Finding in Maturity-Onset Diabetes of the Young Type 5 (MODY 5)." ACG Case Reports Journal 10, no. 10 (2023): e01150. http://dx.doi.org/10.14309/crj.0000000000001150.

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ABSTRACT Maturity-onset diabetes of the young type 5 (MODY 5) is characterized by a single gene mutation in the HNF1B gene. This frequently leads to insulin resistance and presents as young-onset diabetes. Other manifestations can occur in organs expressing hepatocyte nuclear factor-1 beta. This case report highlights family members with MODY 5 presenting with increased liver enzymes with no etiology. The siblings and their mother had a point mutation p.Arg235Trp in HNF1B gene located at 17q12. This variant is associated with autosomal dominant MODY 5 with renal cysts also known as renal cysts

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MOUCHEL, Nathalie, Sytse A. HENSTRA, Victoria A. McCARTHY, Sarah H. WILLIAMS, Marios PHYLACTIDES, and Ann HARRIS. "HNF1alpha is involved in tissue-specific regulation of CFTR gene expression." Biochemical Journal 378, no. 3 (2004): 909–18. http://dx.doi.org/10.1042/bj20031157.

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The CFTR (cystic fibrosis transmembrane conductance regulator) gene shows a complex pattern of expression with tissue-specific and temporal regulation. However, the genetic elements and transcription factors that control CFTR expression are largely unidentified. The CFTR promoter does not confer tissue specificity on gene expression, suggesting that there are regulatory elements outside the upstream region. Analysis of potential regulatory elements defined as DNase 1-hypersensitive sites within introns of the gene revealed multiple predicted binding sites for the HNF1α (hepatocyte nuclear fact

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van der Made, Cas I., Ewout J. Hoorn, Renaud de la Faille, et al. "Hypomagnesemia as First Clinical Manifestation of ADTKD-HNF1B: A Case Series and Literature Review." American Journal of Nephrology 42, no. 1 (2015): 85–90. http://dx.doi.org/10.1159/000439286.

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Background: Autosomal dominant tubulointerstitial kidney disease subtype HNF1B (ADTKD-HNF1B) is caused by a mutation in hepatocyte nuclear factor 1 homeobox beta (HNF1B). Although 50-60% of ADTKD-HNF1B patients develop hypomagnesemia, HNF1B mutations are mainly identified in patients with structural kidney defects or diabetes. Cases: The current case series describes 3 patients in whom hypomagnesemia proved to be the first clinical manifestation of ADTKD-HNF1B. All patients presented with hypomagnesemia with a high fractional excretion of Mg2+ and hypocalciuria. Exome sequencing performed for

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Olsen, J., I. Classen-Linke, H. Sjöström та O. Norén. "Pseudopregnancy induces the expression of hepatocyte nuclear factor-1β and its target gene aminopeptidase N in rabbit endometrium via the epithelial promoter". Biochemical Journal 312, № 1 (1995): 31–37. http://dx.doi.org/10.1042/bj3120031.

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The rabbit endometrium is an excellent model system allowing experimental manipulation of aminopeptidase N (APN) mRNA expression in vivo. By RNase mapping and sequencing of cloned PCR-amplified primer-extended RNA, it was demonstrated that endometrial APN expression is directed by the epithelial APN promoter and is increased in human-choriogonadotropin-induced pseudopregnancy. Cloning and sequencing of the rabbit APN epithelial promoter revealed conservation of the upstream footprint (UF), hepatocyte nuclear factor-1 (HNF1) and Sp1 elements known to be present in the pig and human promoters as

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Park, Seung Shin, and Soo Heon Kwak. "Maturity-Onset Diabetes of the Young (MODY)." Journal of Korean Diabetes 23, no. 3 (2022): 157–64. http://dx.doi.org/10.4093/jkd.2022.23.3.157.

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Precision medicine, which optimizes diagnosis and treatment of diseases according to individualized characteristics, is becoming a reality in the field of diabetes, especially for monogenic diabetes. Maturityonset diabetes of the young (MODY) is a type of monogenic diabetes characterized by early onset, relative non-obesity, non-insulin dependence, and autosomal dominant inheritance. With the trend toward precision medicine and improvement in genetic testing, there have been advances in the classification, diagnosis, and treatment of MODY. MODY accounts for about 1% of diabetes in Korea, with

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Zhao, Juanjuan, Katherine Lupino, Benjamin J. Wilkins та ін. "Genomic integration of ERRγ-HNF1β regulates renal bioenergetics and prevents chronic kidney disease". Proceedings of the National Academy of Sciences 115, № 21 (2018): E4910—E4919. http://dx.doi.org/10.1073/pnas.1804965115.

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Mitochondrial dysfunction is increasingly recognized as a critical determinant of both hereditary and acquired kidney diseases. However, it remains poorly understood how mitochondrial metabolism is regulated to support normal kidney function and how its dysregulation contributes to kidney disease. Here, we show that the nuclear receptor estrogen-related receptor gamma (ERRγ) and hepatocyte nuclear factor 1 beta (HNF1β) link renal mitochondrial and reabsorptive functions through coordinated epigenomic programs. ERRγ directly regulates mitochondrial metabolism but cooperatively controls renal re

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Spiro, Andrew J., Katherine N. Vu, and Alicia Lynn Warnock. "An Atypical HNF4A Mutation Which Does Not Conform to the Classic Presentation of HNF4A-MODY." Case Reports in Endocrinology 2018 (May 28, 2018): 1–4. http://dx.doi.org/10.1155/2018/1560472.

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Objective. To present the case of an atypical Hepatocyte Nuclear Factor 4 Alpha (HNF4A) mutation that is not consistent with the classically published presentation of HNF4A-Mature Onset Diabetes of the Young (MODY). Methods. Clinical presentation and literature review. Results. A 43-year-old nonobese man was referred to the endocrinology clinic for evaluation of elevated fasting blood glucose (FBG) measurements. Laboratory review revealed prediabetes and hypertriglyceridemia for the previous decade. Testing of autoantibodies for type 1 diabetes was negative. Genetic testing showed an autosomal

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Sahu, Ravi P., Ajay Aggarwal, Ghazala Zaidi та ін. "Etiology of Early-Onset Type 2 Diabetes in Indians: Islet Autoimmunity and Mutations in Hepatocyte Nuclear Factor 1α and Mitochondrial Gene". Journal of Clinical Endocrinology & Metabolism 92, № 7 (2007): 2462–67. http://dx.doi.org/10.1210/jc.2006-2467.

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Abstract Context: Indians are at high risk of developing type 2 diabetes mellitus (T2DM) at an early age, despite their lower body mass index. Studies on the etiology of patients presenting as early-onset T2DM in this racial group are not available. Objective: The objective was to delineate the clinical features in young Indian patients with T2DM and to determine the role of mutations in the hepatocyte nuclear factor 1α (HNF1α) gene [MODY3 (maturity-onset diabetes of the young, type 3)], mitochondrial A3243G mutation, and islet autoimmunity in its etiology. Design: This was an observational co

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Ugonabo, Onyinye, Turki Mohamed, Murad Kheetan, and Ahmed Sherif. "Failure to Thrive in a Middle-Aged Female: A Case of Congenital Incomplete Pancreas From a Rare Genetic Defect." Journal of Investigative Medicine High Impact Case Reports 11 (January 2023): 232470962311657. http://dx.doi.org/10.1177/23247096231165742.

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Hepatocyte nuclear factor-1 beta (HNF1B) gene is predominantly expressed in the liver, kidney, lung, genitourinary tract, and pancreas. It is an important transcription factor that regulates pancreas development. Mutation or absence of this gene is rare and can cause incomplete pancreatic development known as the agenesis of the dorsal pancreas. This rare genetic abnormality is associated with other disorders like maturity-onset diabetes of the young, abnormal liver function tests, genitourinary tract malformation, pancreatitis, and renal cysts. Diagnosing this genetic abnormality is difficult

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Pastoret, Anna, Ricard Marcos, Adriana Sampayo-Reyes, Odila Saucedo-Cardenas, Gerardo H. Lozano-Garza та Alba Hernandez. "Inhibition of hepatocyte nuclear factor 1 and 4 alpha (HNF1α and HNF4α) as a mechanism of arsenic carcinogenesis". Archives of Toxicology 87, № 6 (2012): 1001–12. http://dx.doi.org/10.1007/s00204-012-0948-6.

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Welters, Hannah J., Sabine Senkel, Ludger Klein-Hitpass та ін. "Conditional expression of hepatocyte nuclear factor-1β, the maturity-onset diabetes of the young-5 gene product, influences the viability and functional competence of pancreatic β-cells". Journal of Endocrinology 190, № 1 (2006): 171–81. http://dx.doi.org/10.1677/joe.1.06768.

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Mutations in the gene encoding hepatocyte nuclear factor (HNF)1β result in maturity-onset diabetes of the young-(MODY)5, by impairing insulin secretory responses and, possibly, by reducing β-cell mass. The functional role of HNF1β in normal β-cells is poorly understood; therefore, in the present study, wild-type (WT) HNF1β, or one of two naturally occurring MODY5 mutations (an activating mutation, P328L329del, or a dominant-negative form, A263insGG) were conditionally expressed in the pancreatic β-cell line, insulin-1 (INS-1), and the functional consequences examined. Surprisingly, overexpress

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VOSS, Susan H., Richard WHALEN, and Thomas D. BOYER. "Mechanism of negative regulation of rat glutathione S-transferase A2 by the cytokine interleukin 6." Biochemical Journal 365, no. 1 (2002): 229–37. http://dx.doi.org/10.1042/bj20011514.

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A decrease in concentration of some liver proteins, including the detoxification enzyme glutathione S-transferase A2 (rGSTA2), occurs during the acute-phase response. Interleukin 6 (IL-6) with dexamethasone (DEX) decreases transcription of rGSTA2 in rat hepatocytes. The promoter region that mediates suppression of rGSTA2 was localized to 150bp. These 150bp were divided and used for electrophoretic mobility-shift assays. Induction of a protein that specifically bound to an oligonucleotide from this region required new protein synthesis and IL-6 with DEX in the culture media. The protein bound t

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Fujiwara, Kei, Yasuhito Tanaka, Emma Paulon, et al. "Novel Type of Hepatitis B Virus Mutation: Replacement Mutation Involving a Hepatocyte Nuclear Factor 1 Binding Site Tandem Repeat in Chronic Hepatitis B Virus Genotype E." Journal of Virology 79, no. 22 (2005): 14404–10. http://dx.doi.org/10.1128/jvi.79.22.14404-14410.2005.

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ABSTRACT The genetic diversity of hepatitis B virus (HBV) strains has evolved through mutations such as point mutations, deletions or insertions, and recombination. We identified and characterized a novel type of mutation which is a complex of external insertion, deletion, and internal duplication in sequences from one of six patients with chronic hepatitis B virus genotype E (HBV/E). We provisionally named this mutation a “replacement mutation”; the core promoter upstream regulatory sequence/basic core promoter was replaced with a part of the S1 promoter covering the hepatocyte nuclear factor

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Eeckhoute, Jérôme, Pierre Formstecher та Bernard Laine. "Maturity-Onset Diabetes of the Young Type 1 (MODY1)-Associated Mutations R154X and E276Q in Hepatocyte Nuclear Factor 4α (HNF4α) Gene Impair Recruitment of p300, a Key Transcriptional Coactivator". Molecular Endocrinology 15, № 7 (2001): 1200–1210. http://dx.doi.org/10.1210/mend.15.7.0670.

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Abstract Hepatocyte nuclear factor 4α (HNF4α) is a nuclear receptor involved in glucose homeostasis and is required for normal β-cell function. Mutations in the HNF4α gene are associated with maturity-onset diabetes of the young type 1. E276Q and R154X mutations were previously shown to impair intrinsic transcriptional activity (without exogenously supplied coactivators) of HNF4α. Given that transcriptional partners of HNF4α modulate its intrinsic transcriptional activity and play crucial roles in HNF4α function, we investigated the effects of these mutations on potentiation of HNF4α activity

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ARSLAN, Remzi. "Diagnostic importance of hepatocyte nuclear factor 1 beta (HNF1β) in testicular tumors and its sensitivity for the detection of yolk sac tumors: an immunohistochemical analysis". European Research Journal 8, № 4 (2022): 497–505. http://dx.doi.org/10.18621/eurj.1112501.

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Objectives: Testicular tumors are common solid malignancies in young fertile men, and most are germ cell tumors. In general, they originate from a single germ cell and transform into different tumor types or present with the coexistence of different morphological patterns. Due to the heterogeneity of these tumors, immunohistochemical markers are frequently used in their differential diagnosis. In recent years, some studies have indicated hepatocyte nuclear factor 1 beta (HNF1β) can be used in the differential diagnosis of testicular tumors, especially yolk sac tumors (YSTs). In this study, we

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