HNF1A

Summary

Gene Symbol: HNF1A
Description: HNF1 homeobox A
Alias: HNF-1A, HNF1, IDDM20, LFB1, MODY3, TCF-1, TCF1, hepatocyte nuclear factor 1-alpha, HNF-1-alpha, albumin proximal factor, hepatic nuclear factor 1, interferon production regulator factor, liver-specific transcription factor LF-B1, transcription factor 1, hepatic
Species: human

Top Publications

  1. ncbi HNF-1alpha G574S is a functional variant with decreased transactivation activity
    K Navalón-García
    Instituto Politécnico Nacional Escuela Superior de Medicins, Sección de Estudios de Postgrado e Investigación, Plan de San Luis y Díaz Mirón s n, Miguel Hidalgo, Mexico
    Diabet Med 23:1295-300. 2006
  2. pmc Mutations in hepatocyte nuclear factor-1beta and their related phenotypes
    E L Edghill
    J Med Genet 43:84-90. 2006
  3. ncbi Hepatic nuclear factor 1-alpha: inflammation, genetics, and atherosclerosis
    Angela D Armendariz
    Children s Hospital Oakland Research Institute, Oakland, CA 94609, USA
    Curr Opin Lipidol 20:106-11. 2009
  4. pmc Genetic evidence that HNF-1alpha-dependent transcriptional control of HNF-4alpha is essential for human pancreatic beta cell function
    Sara K Hansen
    Steno Diabetes Center and Hagedorn Research Institute, Gentofte, Denmark
    J Clin Invest 110:827-33. 2002
  5. ncbi Screening for MODY mutations, GAD antibodies, and type 1 diabetes--associated HLA genotypes in women with gestational diabetes mellitus
    JianPing Weng
    Department of Endocrinology, Malmo University Hospital, Lund University, Malmo, Sweden
    Diabetes Care 25:68-71. 2002
  6. ncbi Half of clinically defined maturity-onset diabetes of the young patients in Denmark do not have mutations in HNF4A, GCK, and TCF1
    A Johansen
    Steno Diabetes Center and Hagedorn Research Institute, Niels Steensens Vej 2, DK 2820 Gentofte, Denmark
    J Clin Endocrinol Metab 90:4607-14. 2005
  7. pmc Inhibition of suppressive T cell factor 1 (TCF-1) isoforms in naive CD4+ T cells is mediated by IL-4/STAT6 signaling
    Elisabeth Maier
    Department of Molecular Biology, University of Salzburg, Hellbrunner Strasse 34, A 5020 Salzburg, Austria
    J Biol Chem 286:919-28. 2011
  8. pmc Genome-wide association and population genetic analysis of C-reactive protein in African American and Hispanic American women
    Alex P Reiner
    Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA
    Am J Hum Genet 91:502-12. 2012
  9. doi Clinical differences between patients with MODY-3, MODY-2 and type 2 diabetes mellitus with I27L polymorphism in the HNF1alpha gene
    Pedro José Pinés Corrales
    Sección de Endocrinología y Nutrición, Complejo Hospitalario Universitario de Albacete, Albacete, Espana
    Endocrinol Nutr 57:4-8. 2010
  10. pmc Interaction between the homeodomain proteins Cdx2 and HNF1alpha mediates expression of the lactase-phlorizin hydrolase gene
    C Mitchelmore
    Department of Medical Biochemistry and Genetics, Biochemical Laboratory C, The Panum Institute, University of Copenhagen, Blegdamsvej 3, DK 2200 Copenhagen N, Denmark
    Biochem J 346:529-35. 2000

Research Grants

  1. Samir S El-Dahr; Fiscal Year: 2014
  2. Michael H Court; Fiscal Year: 2015
  3. Megan R Determan; Fiscal Year: 2016
  4. JAMEY MARTH; Fiscal Year: 2016
  5. Metabolic and Mitochondrial Defects of Islet beta-cells of MODY-3
    Gary Cline; Fiscal Year: 2009
  6. Weibin Shi; Fiscal Year: 2016
  7. G-quadruplex in Translational Regulation and Cancer Therapy
    Hong Lu; Fiscal Year: 2013
  8. CHARLES ALFRED STANLEY; Fiscal Year: 2016
  9. Domenico Accili; Fiscal Year: 2016
  10. Joonsoo Kang; Fiscal Year: 2016

Detail Information

Publications221 found, 100 shown here

  1. ncbi HNF-1alpha G574S is a functional variant with decreased transactivation activity
    K Navalón-García
    Instituto Politécnico Nacional Escuela Superior de Medicins, Sección de Estudios de Postgrado e Investigación, Plan de San Luis y Díaz Mirón s n, Miguel Hidalgo, Mexico
    Diabet Med 23:1295-300. 2006
    ....
  2. pmc Mutations in hepatocyte nuclear factor-1beta and their related phenotypes
    E L Edghill
    J Med Genet 43:84-90. 2006
    ..Thirty HNF-1beta mutations have been reported in patients with renal cysts and other renal developmental disorders, young-onset diabetes, pancreatic atrophy, abnormal liver function tests, and genital tract abnormalities...
  3. ncbi Hepatic nuclear factor 1-alpha: inflammation, genetics, and atherosclerosis
    Angela D Armendariz
    Children s Hospital Oakland Research Institute, Oakland, CA 94609, USA
    Curr Opin Lipidol 20:106-11. 2009
    ....
  4. pmc Genetic evidence that HNF-1alpha-dependent transcriptional control of HNF-4alpha is essential for human pancreatic beta cell function
    Sara K Hansen
    Steno Diabetes Center and Hagedorn Research Institute, Gentofte, Denmark
    J Clin Invest 110:827-33. 2002
    ..Furthermore, they indicate that this regulation is essential to maintain normal pancreatic function...
  5. ncbi Screening for MODY mutations, GAD antibodies, and type 1 diabetes--associated HLA genotypes in women with gestational diabetes mellitus
    JianPing Weng
    Department of Endocrinology, Malmo University Hospital, Lund University, Malmo, Sweden
    Diabetes Care 25:68-71. 2002
    ..To investigate whether genetic susceptibility to type 1 diabetes or maturity-onset diabetes of the young (MODY) increases susceptibility to gestational diabetes mellitus (GDM)...
  6. ncbi Half of clinically defined maturity-onset diabetes of the young patients in Denmark do not have mutations in HNF4A, GCK, and TCF1
    A Johansen
    Steno Diabetes Center and Hagedorn Research Institute, Niels Steensens Vej 2, DK 2820 Gentofte, Denmark
    J Clin Endocrinol Metab 90:4607-14. 2005
    ..study were to examine the prevalence and nature of mutations in the three common MODY genes, HNF4A, GCK, and TCF1, in Danish patients with a clinical diagnosis of MODY and to describe metabolic differences in probands with and ..
  7. pmc Inhibition of suppressive T cell factor 1 (TCF-1) isoforms in naive CD4+ T cells is mediated by IL-4/STAT6 signaling
    Elisabeth Maier
    Department of Molecular Biology, University of Salzburg, Hellbrunner Strasse 34, A 5020 Salzburg, Austria
    J Biol Chem 286:919-28. 2011
    ..Thus, this study provides a model for an IL-4/STAT6-dependent fine tuning mechanism of TCF-1-driven T helper cell polarization...
  8. pmc Genome-wide association and population genetic analysis of C-reactive protein in African American and Hispanic American women
    Alex P Reiner
    Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA
    Am J Hum Genet 91:502-12. 2012
    ..previously associated with CRP through GWASs of European populations, most loci (LEPR, IL1RN, IL6R, GCKR, NLRP3, HNF1A, HNF4A, and APOC1) showed consistent patterns of association with CRP in AA and HA women...
  9. doi Clinical differences between patients with MODY-3, MODY-2 and type 2 diabetes mellitus with I27L polymorphism in the HNF1alpha gene
    Pedro José Pinés Corrales
    Sección de Endocrinología y Nutrición, Complejo Hospitalario Universitario de Albacete, Albacete, Espana
    Endocrinol Nutr 57:4-8. 2010
    ..The aim of our study was to describe and evaluate the clinical and metabolic characteristics of patients with MODY-3, MODY-2 or type 2 diabetes who presented I27L polymorphism in the HNF1alpha gene...
  10. pmc Interaction between the homeodomain proteins Cdx2 and HNF1alpha mediates expression of the lactase-phlorizin hydrolase gene
    C Mitchelmore
    Department of Medical Biochemistry and Genetics, Biochemical Laboratory C, The Panum Institute, University of Copenhagen, Blegdamsvej 3, DK 2200 Copenhagen N, Denmark
    Biochem J 346:529-35. 2000
    ..Synergistic interaction between tissue-restricted factors is likely to be an important mechanism for reinforcing developmental and tissue-specific gene expression within the intestine...
  11. pmc Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease
    Paul Elliott
    Faculty of Medicine, Imperial College London, London, United Kingdom
    JAMA 302:37-48. 2009
    ..Plasma levels of C-reactive protein (CRP) are independently associated with risk of coronary heart disease, but whether CRP is causally associated with coronary heart disease or merely a marker of underlying atherosclerosis is uncertain...
  12. doi Can complement factors 5 and 8 and transthyretin be used as biomarkers for MODY 1 (HNF4A-MODY) and MODY 3 (HNF1A-MODY)?
    E Karlsson
    Department of Clinical Sciences Diabetes and Endocrinology, Malmo University Hospital, Lund University, Malmo, Sweden
    Diabet Med 25:788-91. 2008
    ..We therefore set out to determine whether serum concentrations of C5, C8 and TTR can be used as biomarkers for patients with HNF4A-MODY and HNF1A-MODY.
  13. pmc Distinct regulation of hepatic nuclear factor 1alpha by NKX6.1 in pancreatic beta cells
    William Donelan
    Department of Pathology, Immunology, and Laboratory Medicine, University of Florida College of Medicine, Gainesville, Florida 32610, USA
    J Biol Chem 285:12181-9. 2010
    ..Abnormal expression of HNF1alpha leads to development of MODY3 (maturity-onset diabetes of the young 3). We report that NK6 homeodomain 1 (NKX6...
  14. pmc Disease progression and search for monogenic diabetes among children with new onset type 1 diabetes negative for ICA, GAD- and IA-2 Antibodies
    Sven Pörksen
    Department of Pediatrics, Glostrup Hospital and University of Copenhagen, Copenhagen, Denmark
    BMC Endocr Disord 10:16. 2010
    ..Furthermore the study aimed at determining whether mutations in KCNJ11, ABCC8, HNF1A, HNF4A or INS are common in AAB negative diabetes.
  15. pmc A nutrient-sensitive interaction between Sirt1 and HNF-1α regulates Crp expression
    Andrew A Grimm
    Department of Developmental Biology Department of Genetics, Washington University School of Medicine, 660 South Euclid Avenue, St Louis, MO 63110, USA
    Aging Cell 10:305-17. 2011
    ..These findings reveal a novel nutrient-dependent interaction between Sirt1 and HNF-1α and provide important insight into the molecular mechanism by which Sirt1 mediates the anti-aging effects of diet restriction...
  16. pmc Opposite regulation of the human apolipoprotein M gene by hepatocyte nuclear factor 1 and Jun transcription factors
    Ioanna Mosialou
    Department of Basic Sciences, University of Crete Medical School, Heraklion 71003, Greece
    J Biol Chem 286:17259-69. 2011
    ..Our studies provide novel insights on the mechanisms that control the expression of liver-specific apolipoprotein genes during inflammation and could affect the maturation and the functionality of HDL particles...
  17. doi Regulation of tissue-specific expression of renal organic anion transporters by hepatocyte nuclear factor 1 α/β and DNA methylation
    Li Jin
    Laboratory of Molecular Pharmacokinetics, Graduate School of Pharmaceutical Sciences, University of Tokyo, 7 3 1 Hongo, Bunkyo ku, Tokyo 113 0033, Japan
    J Pharmacol Exp Ther 340:648-55. 2012
    ..expression of transporters in mice involves the coordinated regulation by hepatocyte nuclear factor 1 (HNF1) and DNA methylation...
  18. pmc Hepatic deletion of SIRT1 decreases hepatocyte nuclear factor 1α/farnesoid X receptor signaling and induces formation of cholesterol gallstones in mice
    Aparna Purushotham
    Laboratory of Signal Transduction, National Institute of Environmental Health Sciences, Research Triangle Park, North Carolina, USA
    Mol Cell Biol 32:1226-36. 2012
    ..We provide evidence that SIRT1 regulates the expression of FXR through hepatocyte nuclear factor 1α (HNF1α). SIRT1 deficiency in hepatocytes leads to decreased binding of HNF1α to the FXR promoter...
  19. pmc NR2F1 disrupts synergistic activation of the MTTP gene transcription by HNF-4α and HNF-1α
    Kezhi Dai
    Departments of Cell Biology and Pediatrics, Program of Molecular and Cellular Biology, School of Graduate Studies, SUNY Downstate Medical Center, Brooklyn, NY, USA
    J Lipid Res 53:901-8. 2012
    ..In this mechanism, NR2F1 does not affect activities of individual transcription factors; instead, it abrogates synergistic activation by HNF-4α and HNF-1 proteins...
  20. ncbi Regulation of LEF-1/TCF transcription factors by Wnt and other signals
    Q Eastman
    Howard Hughes Medical Institute, Department of Microbiology and Immunology, 513 Parnassus Avenue, University of California San Francisco, CA 94143, USA
    Curr Opin Cell Biol 11:233-40. 1999
    ..The LEF-1/TCF transcription factors can also interact with other cofactors and play an architectural role in the assembly of multiprotein enhancer complexes, which may allow for the integration of multiple signaling pathways...
  21. ncbi Regulation of the expression of human organic anion transporter 3 by hepatocyte nuclear factor 1alpha/beta and DNA methylation
    Ryota Kikuchi
    Department of Molecular Pharmacokinetics, Graduate School of Pharmaceutical Sciences, University of Tokyo, 7 3 1 Hongo, Bunkyo ku, Tokyo 113 0033, Japan
    Mol Pharmacol 70:887-96. 2006
    ..pairs upstream of the transcriptional start site, where there are canonical TATA and hepatocyte nuclear factor (HNF1) binding motifs, which are conserved in the rodent Oat3 genes...
  22. pmc HNF1alpha controls renal glucose reabsorption in mouse and man
    M Pontoglio
    Unite des Virus Oncogenes, URA 1644 CNRS, Departement des Biotechnologies, Institut Pasteur, Paris, France
    EMBO Rep 1:359-65. 2000
    ..that is expressed in liver, kidney, pancreas and intestine, result in maturity onset diabetes of the young type 3 (MODY3)...
  23. ncbi The prevalence of the HNF-1alpha G319S mutation in Canadian aboriginal youth with type 2 diabetes
    Elizabeth A C Sellers
    Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Canada
    Diabetes Care 25:2202-6. 2002
    ....
  24. ncbi NARF, an nemo-like kinase (NLK)-associated ring finger protein regulates the ubiquitylation and degradation of T cell factor/lymphoid enhancer factor (TCF/LEF)
    Misato Yamada
    Department of Molecular Cell Biology, Medical Research Institute and School of Biomedical Science, Tokyo Medical and Dental University, JST, Chiyoda ku, Japan
    J Biol Chem 281:20749-60. 2006
    ..Collectively, our findings raise the possibility that NARF functions as a novel ubiquitin-ligase to suppress the Wnt-beta-catenin signaling...
  25. doi A genetic diagnosis of HNF1A diabetes alters treatment and improves glycaemic control in the majority of insulin-treated patients
    M Shepherd
    Institute of Health and Social Care Research Peninsula Medical School, Exeter, UK
    Diabet Med 26:437-41. 2009
    Hepatocyte nuclear factor-1 alpha (HNF1A) gene mutations are the commonest cause of monogenic diabetes, but patients are often misdiagnosed as having Type 1 diabetes and started on insulin treatment...
  26. pmc Evaluation of serum 1,5 anhydroglucitol levels as a clinical test to differentiate subtypes of diabetes
    Aparna Pal
    Diabetes Research Laboratories, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK
    Diabetes Care 33:252-7. 2010
    ..1,5 anhydroglucitol (1,5AG) levels were reported to differentiate maturity-onset diabetes of the young due to HNF1A mutations (HNF1A-MODY) from type 2 diabetes, but this requires further validation...
  27. pmc Genomics meets glycomics-the first GWAS study of human N-Glycome identifies HNF1α as a master regulator of plasma protein fucosylation
    Gordan Lauc
    Glycobiology Laboratory, Genos Ltd, Zagreb, Croatia
    PLoS Genet 6:e1001256. 2010
    ..of 2,705 individuals in three population cohorts showed that common variants in the Hepatocyte Nuclear Factor 1α (HNF1α) and fucosyltransferase genes FUT6 and FUT8 influence N-glycan levels in human plasma...
  28. pmc Purified hepatocyte nuclear factor 1 interacts with a family of hepatocyte-specific promoters
    G Courtois
    Department of Pathology, Stanford University School of Medicine, CA 94305
    Proc Natl Acad Sci U S A 85:7937-41. 1988
    ..We also show that this protein binds to the promoter of the surface-antigen gene of the hepatitis B virus, a virus characterized by a high degree of hepatotropism...
  29. ncbi Transcriptional activation by hepatocyte nuclear factor-1 requires synergism between multiple coactivator proteins
    E Soutoglou
    Institute of Molecular Biology and Biotechnology, Foundation for Research and Technology Hellas, 711 10 Herakleion Crete, Greece
    J Biol Chem 275:12515-20. 2000
    ..The results support a model that involves the combined action of multiple coactivators recruited by HNF-1, which activate transcription by coupling nucleosome modification and recruitment of the general transcription machinery...
  30. ncbi Identifying hepatic nuclear factor 1alpha mutations in children and young adults with a clinical diagnosis of type 1 diabetes
    A Paul Lambert
    Department of Diabetes and Metabolism, Division of Medicine, University of Bristol, UK
    Diabetes Care 26:333-7. 2003
    HNF-1alpha gene mutations (MODY3) present with marked hyperglycemia in lean young adults and may, therefore, be mistaken for type 1 diabetes, with implications for individual treatment and risk of diabetes in other family members...
  31. doi The A98V single nucleotide polymorphism (SNP) in hepatic nuclear factor 1 alpha (HNF-1alpha) is associated with insulin sensitivity and beta-cell function
    A Bergmann
    Health Care Centre of Medical Faculty Carl Gustav Carus of the Technical University, Dresden, Germany
    Exp Clin Endocrinol Diabetes 116:S50-5. 2008
    ..The aims of the study was to determine whether two single nucleotide polymorphisms (SNPs) ile27-to-leu and ala98-to-val in the HNF-1alpha gene associate with diabetes, insulin sensitivity as well as beta-cell function...
  32. doi The predominant expression of hepatocyte nuclear factor 4α (HNF4α) in thyroid transcription factor-1 (TTF-1)-negative pulmonary adenocarcinoma
    Ryosuke Kunii
    Division of Cellular and Molecular Pathology, Niigata University Graduate School of Medical and Dental Sciences, Niigata University Hospital, Niigata, Japan
    Histopathology 58:467-76. 2011
    ..To investigate TTF-1-negative pulmonary adenocarcinoma, focusing upon mucin production and the expression of hepatocyte nuclear factor-4α (HNF4α)...
  33. ncbi HNF-1 alpha and HNF-1 beta (vHNF-1) share dimerization and homeo domains, but not activation domains, and form heterodimers in vitro
    D B Mendel
    Beckman Center for Molecular and Genetic Medicine, Howard Hughes Medical Institute, Stanford University Medical School, California 94305
    Genes Dev 5:1042-56. 1991
    ..These studies define a pair of homeo domain proteins that have the potential to interact to produce an embryologically complex pattern of gene expression...
  34. pmc More potent transcriptional activators or a transdominant inhibitor of the HNF1 homeoprotein family are generated by alternative RNA processing
    I Bach
    Unite des Virus Oncogenes, UA 1644 du CNRS, Departement des Biotechnologies, Institut Pasteur, Paris, France
    EMBO J 12:4229-42. 1993
    ..the isolation of cDNAs from human liver encoding several isoforms of the hepatocyte nuclear factor homeoproteins HNF1 and vHNF1 generated by the differential use of polyadenylation sites and by alternative splicing...
  35. ncbi Mutations in the hepatocyte nuclear factor-1alpha gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4
    P J Kaisaki
    Howard Hughes Medical Institute, Department of Biochemistry, University of Chicago, Illinois 60637, USA
    Diabetes 46:528-35. 1997
    ..factor hepatocyte nuclear factor (HNF)-1alpha are the cause of one form of maturity-onset diabetes of the young (MODY3). Here, we report the exon-intron organization and partial sequence of the human HNF-1alpha gene...
  36. ncbi Mutations in the hepatocyte nuclear factor-1alpha gene are a common cause of maturity-onset diabetes of the young in the U.K
    T M Frayling
    Institute of Clinical Science, University of Exeter, Devon, U K
    Diabetes 46:720-5. 1997
    ..K. families and result in early onset NIDDM with a progressive clinical course. Mutation-based genetic counseling can now be considered for the majority of patients with MODY...
  37. ncbi Mutations in the hepatocyte nuclear factor-1alpha/MODY3 gene in Japanese subjects with early- and late-onset NIDDM
    N Iwasaki
    Diabetes Center, Tokyo Women s Medical College, Japan
    Diabetes 46:1504-8. 1997
    ..in the hepatocyte nuclear factor (HNF)-1alpha gene are the cause of maturity-onset diabetes of the young type 3 (MODY3)...
  38. ncbi The hepatic nuclear factor-1alpha G319S variant is associated with early-onset type 2 diabetes in Canadian Oji-Cree
    R A Hegele
    Robarts Research Institute, University of Western Ontario, London, Canada
    J Clin Endocrinol Metab 84:1077-82. 1999
    ..Also, G319S is associated with a distinct form of type 2 diabetes, characterized by onset at an earlier age, lower body mass, and a higher postchallenge plasma glucose...
  39. ncbi Octamer transcription factor-1 enhances hepatic nuclear factor-1alpha-mediated activation of the human UDP glucuronosyltransferase 2B7 promoter
    Y Ishii
    Department of Clinical Pharmacology, Flinders Medical Centre, Bedford Park, South Australia, Australia
    Mol Pharmacol 57:940-7. 2000
    ..UGT2B7 promoter activity with the HNF1/AT-rich element was stimulated by cotransfection with HNF1alpha...
  40. ncbi Intrauterine hyperglycemia is associated with an earlier diagnosis of diabetes in HNF-1alpha gene mutation carriers
    Amanda Stride
    Department of Diabetes and Vascular Medicine, University of Exeter, Devon, UK
    Diabetes Care 25:2287-91. 2002
    ....
  41. ncbi Association of common variation in the HNF1alpha gene region with risk of type 2 diabetes
    Wendy Winckler
    Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA
    Diabetes 54:2336-42. 2005
    ..The gene for MODY3 diabetes, HNF1alpha, lies in a region that has shown linkage to late-onset type 2 diabetes (12q24, NIDDM2), and ..
  42. ncbi Hepatocyte nuclear factor1 transcription factors are essential for the UDP-glucuronosyltransferase 1A9 promoter response to hepatocyte nuclear factor 4alpha
    Dione A Gardner-Stephen
    Department of Clinical Pharmacology, Flinders University School of Medicine, Flinders Medical Centre, South Australia, Australia
    Pharmacogenet Genomics 17:25-36. 2007
    ..The discovery of two unique and cooperative liver-enriched transcription factor binding sites in the UGT1A9 promoter is a significant step towards understanding the unique hepatic expression of UGT1A9 amongst the UGT1A7-10 gene cluster...
  43. ncbi Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes
    Wendy Winckler
    Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA
    Diabetes 56:685-93. 2007
    ..We combined these results with our previous studies on HNF4alpha and TCF1 and explicitly tested for gene-gene interactions among these variants and with several known type 2 diabetes ..
  44. ncbi Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young
    S Ellard
    Institute of Biomedical Science and Clinical Medicine, Peninsula Medical School, Exeter, UK
    Diabetologia 50:2313-7. 2007
    Heterozygous mutations of glucokinase (GCK) and hepatocyte nuclear factor-1 alpha (HNF1A; also known as hepatic transcription factor 1 [TCF1]) genes are the most common cause of MODY...
  45. ncbi The transcription factor HNF1 acts with C/EBP alpha to synergistically activate the human albumin promoter through a novel domain
    K J Wu
    Department of Cell Biology, Baylor College of Medicine, Houston, Texas 77030
    J Biol Chem 269:1177-82. 1994
    b>HNF1 and C/EBP alpha are transcription factors that bind to and trans-activate the human albumin gene proximal promoter...
  46. ncbi Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3)
    K Yamagata
    Howard Hughes Medical Institute, The University of Chicago, Illinois 60637, USA
    Nature 384:455-8. 1996
    ..Here we show that subjects with the MODY3-form of NIDDM have mutations in the gene encoding hepatocyte nuclear factor-1alpha (HNF-1alpha, which is encoded ..
  47. pmc The bifunctional DCOH protein binds to HNF1 independently of its 4-alpha-carbinolamine dehydratase activity
    D J Sourdive
    Unite des Virus Oncogenes, URA 1644 du CNRS, Departement des Biotechnologies, U163 INSERM, Institut Pasteur, 25, rue du Dr Roux, 75724 Paris Cedex 15, France
    Nucleic Acids Res 25:1476-84. 1997
    b>HNF1 is a liver enriched atypical homeoprotein isolated from vertebrates which is involved in the transcriptional activation of liver, kidney, intestine and pancreas specific genes...
  48. ncbi Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity-onset diabetes of the young (MODY3)
    M Vaxillaire
    CNRS EP10, Institut Pasteur de Lille and CHU de Lille, France
    Hum Mol Genet 6:583-6. 1997
    ..two functionally related transcription factors, hepatocyte nuclear factor 4 alpha (HNF-4alpha) and hepatocyte nuclear factor 1 alpha (HNF-1alpha) are associated with the MODY1 and MODY3 forms of diabetes respectively, whereas ..
  49. ncbi Genetic variation in the hepatocyte nuclear factor-1 alpha gene in Danish Caucasians with late-onset NIDDM
    S A Urhammer
    Steno Diabetes Center, Copenhagen, Denmark
    Diabetologia 40:473-5. 1997
    ..genome mapping study has localized a locus termed NIDDM2 that maps to the region of chromosome 12 that includes MODY3, one of the three genes responsible for maturity-onset diabetes of the young, a monogenic form of NIDDM ..
  50. ncbi A rapid screening method for hepatocyte nuclear factor 1 alpha frameshift mutations; prevalence in maturity-onset diabetes of the young and late-onset non-insulin dependent diabetes
    T M Frayling
    Division of Molecular Genetics, University of Exeter, UK
    Hum Genet 101:351-4. 1997
    ..Mutations in the hepatocyte nuclear factor 1 alpha (HNF-1 alpha) gene have recently been shown to cause MODY...
  51. ncbi Hepatocyte nuclear factor 1alpha coding mutations are an uncommon contributor to early-onset type 2 diabetes in Ashkenazi Jews
    P S Behn
    Division of Metabolism, Endocrinology and Diabetes, Washington University Medical School, St Louis, Missouri 63110, USA
    Diabetes 47:967-9. 1998
  52. ncbi Retinoic acid mediates down-regulation of the alpha-fetoprotein gene through decreased expression of hepatocyte nuclear factors
    T R Magee
    Department of Pathology, Harbor UCLA Medical Center, Torrance, California 90509, USA
    J Biol Chem 273:30024-32. 1998
    ..In addition, HNF4, which is not known to bind to the AFP promoter but does regulate HNF1, was also diminished. The levels of HNF1 and HNF4 mRNA were also decreased following RA treatment...
  53. ncbi Three new mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with diabetes mellitus: clinical features and functional characterization
    I Yoshiuchi
    Department of Internal Medicine and Molecular Science, Graduate School of Medicine, Osaka University, Suita, Japan
    Diabetologia 42:621-6. 1999
    ..We examined the clinical features and molecular basis of hepatocyte nuclear factor-1alpha (HNF-1alpha) diabetes...
  54. pmc Molecular targets of a human HNF1 alpha mutation responsible for pancreatic beta-cell dysfunction
    H Wang
    Division de Biochimie Clinique et de Diabétologie Expérimentale, Départment de Médecine Interne, Centre Medical Universitaire, CH 1211 Geneva 4, Switzerland
    EMBO J 19:4257-64. 2000
    ..alpha)-P291fsinsC, the most common mutation associated with subtype 3 of maturity-onset diabetes of the young (MODY3)...
  55. pmc Interleukin-6-induced STAT3 and AP-1 amplify hepatocyte nuclear factor 1-mediated transactivation of hepatic genes, an adaptive response to liver injury
    J I Leu
    Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Mol Cell Biol 21:414-24. 2001
    ....
  56. ncbi The generalized aminoaciduria seen in patients with hepatocyte nuclear factor-1alpha mutations is a feature of all patients with diabetes and is associated with glucosuria
    C Bingham
    Department of Vascular Medicine and Diabetes Research, School of Postgraduate Medicine and Health Sciences, University of Exeter, Devon, UK
    Diabetes 50:2047-52. 2001
    ..Glucose may depolarize and dissipate the electrical gradient of the sodium-dependent amino acid transporters in the proximal renal tubule, causing a reduction in amino acid resorption...
  57. ncbi Prevalence of the missense mutation Gly574Ser in the hepatocyte nuclear factor-1alpha in Africans with diabetes
    C Collet
    Service d endocrinologie, Hopital d Instruction des armees BEGIN, 94160 Saint Mande, France
    Diabetes Metab 28:39-44. 2002
    ..This peculiar disease course could be at least partly related to a specific genetic profile that has not been studied in this population...
  58. ncbi Hepatocyte nuclear factor-1alpha recruits the transcriptional co-activator p300 on the GLUT2 gene promoter
    Nobuhiro Ban
    Department of Metabolism and Clinical Nutrition, Graduate School of Medicine, Kyoto University, Japan
    Diabetes 51:1409-18. 2002
    ..In addition, these results provided new insight into the regulatory function of HNF-1alpha by suggesting a molecular basis for human GLUT2 gene expression...
  59. ncbi Physical interaction between GATA-5 and hepatocyte nuclear factor-1alpha results in synergistic activation of the human lactase-phlorizin hydrolase promoter
    Herbert M van Wering
    Division of Gastroenterology and Nutrition, Department of Medicine, Children s Hospital, Boston, Massachusetts 02115, USA
    J Biol Chem 277:27659-67. 2002
    ..Parallel mechanisms in other tissues as well as in Drosophila suggest that zinc finger/homeodomain interactions are an efficient pathway of cooperative activation of gene transcription that has been conserved throughout evolution...
  60. ncbi Bi-allelic inactivation of TCF1 in hepatic adenomas
    Olivier Bluteau
    INSERM U434, Fondation Jean Dausset, 27 rue Juliette Dodu, 75010 Paris, France
    Nat Genet 32:312-5. 2002
    ..mutations of TCF1 have been identified in individuals affected with maturity-onset diabetes of the young type 3 (MODY3; ref. 3)...
  61. ncbi Diabetes mutations delineate an atypical POU domain in HNF-1alpha
    Young In Chi
    Joslin Diabetes Center, Department of Medicine, Harvard Medical School, Boston, MA 02215, USA
    Mol Cell 10:1129-37. 2002
    ..The numerous diabetes-causing mutations in HNF-1alpha thus identified a previously unrecognized POU domain which was used as a search model to identify additional POU domain proteins in sequence databases...
  62. ncbi Determinants of the development of diabetes (maturity-onset diabetes of the young-3) in carriers of HNF-1alpha mutations: evidence for parent-of-origin effect
    Tomasz Klupa
    Research Division, Joslin Diabetes Center, Harvard Medical School, Boston, Massachusetts 02215, USA
    Diabetes Care 25:2292-301. 2002
    To determine the distribution of the age at onset of diabetes (maturity-onset diabetes of the young-3 [MODY3]) and to identify determinants of the onset of diabetes in carriers of HNF-1alpha mutations.
  63. ncbi Hepatocyte nuclear factor-1 alpha gene mutations and diabetes in Norway
    Lise Bjørkhaug
    Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, N 5021 Bergen, Norway
    J Clin Endocrinol Metab 88:920-31. 2003
    ..To estimate the prevalence of MODY3 in Norwegian diabetic pedigrees, we screened a total of 130 families for HNF-1 alpha mutations; 42 families with ..
  64. ncbi Comparison of the impact of the I27L polymorphism of the hepatocyte nuclear factor-1alpha on estimated and measured beta cell indices
    Ken C Chiu
    Division of Endocrinology, Diabetes and Hypertension, University of California Los Angeles School of Medicine, Los Angeles, CA, USA
    Eur J Endocrinol 148:641-7. 2003
    ..We investigated the impact of the I27L polymorphism of the hepatocyte nuclear factor-1alpha gene on measured and estimated beta cell indices. We also examined the conservation of this amino acid among different species...
  65. ncbi Messenger RNA transcripts of the hepatocyte nuclear factor-1alpha gene containing premature termination codons are subject to nonsense-mediated decay
    Lorna W Harries
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, U K
    Diabetes 53:500-4. 2004
    ..Haploinsufficiency is therefore likely to be the most important mutational mechanism of HNF-1alpha mutations causing MODY...
  66. pmc Control of pancreas and liver gene expression by HNF transcription factors
    Duncan T Odom
    Whitehead Institute for Biomedical Research, 9 Cambridge Center, Cambridge, MA 02142, USA
    Science 303:1378-81. 2004
    ..Our results suggest how misregulation of HNF4alpha can contribute to type 2 diabetes...
  67. ncbi Contrasting diabetes phenotypes associated with hepatocyte nuclear factor-1alpha and -1beta mutations
    Ewan R Pearson
    Diabetes and Vascular Medicine, Peninsula Medical School, Exeter, UK
    Diabetes Care 27:1102-7. 2004
    ..However, physiological assessment of the HNF-1beta phenotype is limited. We aimed to test the hypothesis that the diabetes phenotype due to HNF-1beta mutations is similar to that in HNF-1alpha...
  68. ncbi Mutation of TCF1 encoding hepatocyte nuclear factor 1alpha in gynecological cancer
    Sandra Rebouissou
    INSERM U434, 27 rue Juliette Dodu, 75010 Paris, France
    Oncogene 23:7588-92. 2004
    b>TCF1: (transcription factor 1) encoding hepatocyte nuclear factor 1alpha (HNF1alpha) is mutated in 50% of liver cell adenomas, a benign tumor closely associated with oral contraceptive use...
  69. ncbi Transcriptional coactivators CBP and p300 cooperatively enhance HNF-1alpha-mediated expression of the albumin gene in hepatocytes
    Takeaki Dohda
    Department of Biotechnology, Graduate School of Engineering, Nagoya University, Furo cho, Chikusa ku, Nagoya 464 8603, Japan
    J Biochem 136:313-9. 2004
    ..In addition, inhibition of CBP or p300 using small interfering RNAs (siRNAs) resulted in a reduction in albumin expression. These results suggest that both CBP and p300 are required for enhanced expression of albumin...
  70. ncbi A large-scale association analysis of common variation of the HNF1alpha gene with type 2 diabetes in the U.K. Caucasian population
    Michael N Weedon
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK
    Diabetes 54:2487-91. 2005
    HNF1alpha (TCF1) is a key transcription factor that is essential for pancreatic beta-cell development and function. Rare mutations of HNF1alpha cause maturity-onset diabetes of the young...
  71. ncbi A prevalent amino acid polymorphism at codon 98 (Ala98Val) of the hepatocyte nuclear factor-1alpha is associated with maturity-onset diabetes of the young and younger age at onset of type 2 diabetes in Asian Indians
    Shekher Anuradha
    Dr Mohans MV Diabetes Specialties Centre and Madras Diabetes Research Foundation, Gopalapuram, Chennai, India
    Diabetes Care 28:2430-5. 2005
    ..The aim of this study was to estimate the prevalence of Ala98Val polymorphism of the HNF1alpha gene in different types of diabetes in Asian Indians...
  72. ncbi Isomers of the TCF1 gene encoding hepatocyte nuclear factor-1 alpha show differential expression in the pancreas and define the relationship between mutation position and clinical phenotype in monogenic diabetes
    Lorna W Harries
    Institute of Biomedical and Clincal Sciences, Peninsula Medical School, Barrack Road, Exeter, Devon, UK
    Hum Mol Genet 15:2216-24. 2006
    ..Heterozygous mutations in the transcription factor hepatocyte nuclear factor-1 alpha (HNF1A or TCF1 gene) result in early-onset diabetes as a result of pancreatic beta-cell dysfunction...
  73. ncbi Association studies of variants in the genes involved in pancreatic beta-cell function in type 2 diabetes in Japanese subjects
    Norihide Yokoi
    Division of Cellular and Molecular Medicine, Kobe University Graduate School of Medicine, Kobe 650 0017, Japan
    Diabetes 55:2379-86. 2006
    ..We examined the association of variants in genes encoding several transcription factors (TCF1, TCF2, HNF4A, ISL1, IPF1, NEUROG3, PAX6, NKX2-2, NKX6-1, and NEUROD1) and genes encoding the ATP-sensitive K(+) ..
  74. ncbi Common variants in HNF-1 alpha and risk of type 2 diabetes
    J Holmkvist
    Department of Clinical Sciences, Diabetes and Endocrinology, Clinical Research Center, Malmo University Hospital, Lund University, S 205 02, Malmo, Sweden
    Diabetologia 49:2882-91. 2006
    ..now known as the transcription factor 1 gene [TCF1]) cause the most common monogenic form of diabetes, MODY3, but it is not known if common variants in HNF-1a are associated with decreased transcriptional activity or ..
  75. ncbi The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY)-3
    Christine Bellanne-Chantelot
    Département de génétique, Groupe Hospitalier Pitie Salpetriere, Bât 6 rue Lapeyronie, 47 83 boulevard de l Hopital, 75651 Paris Cedex 13, France
    Diabetes 57:503-8. 2008
    ..This may be due to environmental and/or genetic factors, including molecular characteristics of the hepatocyte nuclear factor 1-alpha (HNF1A) gene mutation.
  76. doi Common variants in maturity-onset diabetes of the young genes and future risk of type 2 diabetes
    Johan Holmkvist
    Department of Clinical Sciences Diabetes and Endocrinology, CRC, Malmö University Hospital MAS, Lund University, Malmo, Sweden
    Diabetes 57:1738-44. 2008
    ....
  77. pmc Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study
    Paul M Ridker
    Center for Cardiovascular Disease Prevention, Brigham and Women s Hospital, Harvard Medical School, Boston, MA 02115, USA
    Am J Hum Genet 82:1185-92. 2008
    ..9 x 10(-)(8) to 6.2 x 10(-)(28)). Two of these loci (GCKR and HNF1A) are suspected or known to be associated with maturity-onset diabetes of the young, one is a gene-desert region on ..
  78. pmc Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein
    Alexander P Reiner
    University of Washington, Department of Epidemiology, Seattle, WA 98195, USA
    Am J Hum Genet 82:1193-201. 2008
    ..Study (CHS) provide independent and confirmatory evidence for association between common polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha and plasma C-reactive protein (CRP) concentration...
  79. pmc Diabetes susceptibility in the Canadian Oji-Cree population is moderated by abnormal mRNA processing of HNF1A G319S transcripts
    Lorna W Harries
    Institute of Biomedical and Clinical Sciences, Peninsula Medical School, Exeter, U K
    Diabetes 57:1978-82. 2008
    The G319S HNF1A variant is associated with an increased risk of type 2 diabetes in the Canadian Oji-Cree population...
  80. pmc Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes
    Xin Yuan
    Genetics Division, GlaxoSmithKline, King of Prussia, PA 19406, USA
    Am J Hum Genet 83:520-8. 2008
    ..chromosome 10 and PNPLA3-SAMM50 on chromosome 22), one locus influencing gamma-glutamyl transferase (GGT) levels (HNF1A on chromosome 12), and three loci for alkaline phosphatase (ALP) levels (ALPL on chromosome 1, GPLD1 on chromosome ..
  81. pmc New susceptibility locus for coronary artery disease on chromosome 3q22.3
    Jeanette Erdmann
    Medizinische Klinik II, Universitat zu Lubeck, 23538 Lubeck, Germany
    Nat Genet 41:280-2. 2009
    ..We identified one new CAD risk locus on 3q22.3 in MRAS (P = 7.44 x 10(-13); OR = 1.15, 95% CI = 1.11-1.19), and suggestive association with a locus on 12q24.31 near HNF1A-C12orf43 (P = 4.81 x 10(-7); OR = 1.08, 95% CI = 1.05-1.11).
  82. pmc Hepatocyte nuclear factor 1 is essential for transcription of sodium-dependent vitamin C transporter protein 1
    Alexander J Michels
    Linus Pauling Institute and the Department of Biochemistry and Biophysics, Oregon State University, Corvallis, Oregon 97331, USA
    Am J Physiol Cell Physiol 297:C1220-7. 2009
    ..within this sequence, reporter constructs showed that basal transcription required the binding of hepatic nuclear factor 1 (HNF-1) to its cognate sequence...
  83. pmc A Wnt kinase network alters nuclear localization of TCF-1 in colon cancer
    R Najdi
    Department of Microbiology and Molecular Genetics, University of California, Irvine, CA 92697, USA
    Oncogene 28:4133-46. 2009
    ..We propose that dnTCF-1 provides homeostatic regulation of Wnt signaling and growth in normal colon, and the alterations in nuclear export and promoter usage contribute to aberrant Wnt activity in colon cancer...
  84. pmc Common coding variants of the HNF1A gene are associated with multiple cardiovascular risk phenotypes in community-based samples of younger and older European-American adults: the Coronary Artery Risk Development in Young Adults Study and The Cardiovascula
    Alexander P Reiner
    Department of Epidemiology, University of Washington, Seattle, WA 98195, USA
    Circ Cardiovasc Genet 2:244-54. 2009
    ..Common polymorphisms of the HNF-1 alpha gene (HNF1A) were recently associated with plasma C-reactive protein and gamma-glutamyl transferase concentration in middle-..
  85. pmc Spectrum of HNF1A somatic mutations in hepatocellular adenoma differs from that in patients with MODY3 and suggests genotoxic damage
    Emmanuelle Jeannot
    Institut National de Santé et de Recherche Médicale, U674, Génomique fonctionnelle des tumeurs solides, Paris, France
    Diabetes 59:1836-44. 2010
    Maturity onset diabetes of the young type 3 (MODY3) is a consequence of heterozygous germline mutation in HNF1A...
  86. pmc Assessing the association of the HNF1A G319S variant with C-reactive protein in Aboriginal Canadians: a population-based epidemiological study
    Sylvia H Ley
    Department of Nutritional Sciences, University of Toronto, Toronto, Canada
    Cardiovasc Diabetol 9:39. 2010
    ..Common variants of the hepatocyte nuclear factor 1A (HNF1A) gene encoding HNF-1alpha have been associated with plasma CRP in predominantly European Caucasian samples...
  87. pmc Effect of the rs2259816 polymorphism in the HNF1A gene on circulating levels of c-reactive protein and coronary artery disease (the ludwigshafen risk and cardiovascular health study)
    Marcus E Kleber
    Synlab Centre of Laboratory Diagnostics, Heidelberg, Germany
    BMC Med Genet 11:157. 2010
    ..It is still controversial if it plays an active role in the development of cardiovascular disease. Recently, polymorphisms in the gene for HNF1α have been linked to the levels of C-reactive protein and coronary artery disease.
  88. pmc Genome-wide "pleiotropy scan" identifies HNF1A region as a novel pancreatic cancer susceptibility locus
    Brandon L Pierce
    Department of Health Studies and Comprehensive Cancer Center, University of Chicago, Chicago, Illinois 60637, USA
    Cancer Res 71:4352-8. 2011
    ..Of the 1,087 SNPs tested, the strongest association observed was for HNF1A SNP rs7310409 (P = 3 × 10(-5); P(Bonferroni) = 0...
  89. pmc Systematic assessment of etiology in adults with a clinical diagnosis of young-onset type 2 diabetes is a successful strategy for identifying maturity-onset diabetes of the young
    Gaya Thanabalasingham
    Oxford Centre for Diabetes, Endocrinology andMetabolism, University of Oxford, U K
    Diabetes Care 35:1206-12. 2012
    ..This cross-sectional study examined diagnostic misclassification of MODY in subjects with clinically labeled young adult-onset type 1 and type 2 diabetes by extending genetic testing beyond current guidelines...
  90. doi Genetic associations with C-reactive protein level and white blood cell count in the KARE study
    M Kong
    School of Systems Biomedical Science, Soongsil University, Seoul, Korea
    Int J Immunogenet 40:120-5. 2013
    ..The only common variant associated with CRP was rs2393791 within hepatocyte nuclear factor 1 alpha (HNF1A) gene [minor allele frequency (MAF) = 0.478]...
  91. pmc Transcriptome analysis of pancreatic cancer reveals a tumor suppressor function for HNF1A
    Jason W Hoskins
    Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA, Epithelial Carcinogenesis Group, CNIO Spanish National Cancer Research Centre, E 28029 Madrid, Spain, Lymphoid Malignancies Branch, Center for Cancer Research, National Cancer Institute and Bioinformatics and Molecular Analysis Section, Division of Computational Bioscience, Center for Information Technology, National Institutes of Health, Bethesda, MD 20892, USA, Department of Laboratory Medicine and Pathology and Division of Epidemiology, Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA and Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, 08003 Barcelona, Spain
    Carcinogenesis 35:2670-8. 2014
    ..Sub-network enrichment analyses identified HNF1A as the regulator of the most significantly and consistently dysregulated expression sub-network in pancreatic ..
  92. ncbi Novel MODY3 mutations in the hepatocyte nuclear factor-1alpha gene: evidence for a hyperexcitability of pancreatic beta-cells to intravenous secretagogues in a glucose-tolerant carrier of a P447L mutation
    T Hansen
    Steno Diabetes Center and Hagendorn Research Institute, Copenhagen, Denmark
    Diabetes 46:726-30. 1997
    One form of maturity-onset diabetes of the young (MODY3) results from mutations in the hepatocyte nuclear factor (HNF)-1alpha gene, located on chromosome 12q24.2...
  93. ncbi Abnormal splicing of hepatocyte nuclear factor 1 alpha in maturity-onset diabetes of the young
    M P Bulman
    Centre for Molecular Genetics, School of Postgraduate Medicine and Health Sciences, University of Exeter, Exeter EX2 5AX, UK
    Diabetologia 45:1463-7. 2002
    ..This study aimed to define the pathogenic mechanism in three novel splice site mutations by analysing illegitimate transcripts...
  94. ncbi Evidence for haploinsufficiency of the human HNF1alpha gene revealed by functional characterization of MODY3-associated mutations
    Heike Thomas
    Universitatsklinikum Essen, Institut für Zellbiologie Tumorforschung, Hufelandstrasse 55, D 45122 Essen, Germany
    Biol Chem 383:1691-700. 2002
    ..In humans mutations in the HNF1 gene are responsible for one form of maturity onset diabetes of the young (MODY3)...
  95. ncbi Association of I27L polymorphism of hepatocyte nuclear factor-1 alpha gene with high-density lipoprotein cholesterol level
    Naru Babaya
    Department of Geriatric Medicine, Osaka University Graduate School of Medicine, Suita, Osaka 565 0871, Japan
    J Clin Endocrinol Metab 88:2548-51. 2003
    ..These results demonstrate that the HNF-1 alpha gene locus is associated with serum HDL-c level and suggest that the Ile27 allele is a risk marker for atherosclerosis...
  96. ncbi Serum amino acids in patients with mutations in the hepatocyte nuclear factor-1 alpha gene
    A Stride
    Department of Diabetes and Vascular Medicine, Peninsula Medical School, Exeter, UK
    Diabet Med 21:928-30. 2004
    Knockout mice lacking both copies of the hepatocyte nuclear factor 1 (HNF1) gene have altered serum levels of amino acids and generalized aminoaciduria...
  97. doi Dominant-negative mutant hepatocyte nuclear factor 1alpha induces diabetes in transgenic-cloned pigs
    Kazuhiro Umeyama
    BIOS Research Laboratory Inc, Hiratsuka, Kanagawa 254 0031, Japan
    Transgenic Res 18:697-706. 2009
    ..Histochemical analysis of pancreas tissue from the cloned pigs showed small and irregularly formed Langerhans Islets, in which poor insulin secretion was detected...
  98. pmc Two members of an HNF1 homeoprotein family are expressed in human liver
    I Bach
    UA 041149 du CNRS, Departement des Biotechnologies, Institut Pasteur, Paris, France
    Nucleic Acids Res 19:3553-9. 1991
    b>HNF1 is a transcriptional activator, required for the liver-specific expression of a variety of genes, that binds to DNA as a dimer via the most diverged homeodomain known so far...
  99. ncbi A gene for maturity onset diabetes of the young (MODY) maps to chromosome 12q
    M Vaxillaire
    CNRS EP10, Institut Pasteur de Lille, France
    Nat Genet 9:418-23. 1995
    ..These MODY patients exhibit major hyperglycaemia with a severe insulin secretory defect, suggesting that the causal gene is implicated in pancreatic beta-cell function...
  100. ncbi Novel mutations and a mutational hotspot in the MODY3 gene
    M A Glucksmann
    Millennium Pharmaceuticals, Inc, Cambridge, Massachusetts 02139, USA
    Diabetes 46:1081-6. 1997
    Maturity-onset diabetes of the young 3 (MODY3) is a type of NIDDM caused by mutations in the transcription factor hepatocyte nuclear factor-1alpha (HNF-1alpha) located on chromosome 12q...
  101. ncbi Maturity-onset diabetes of the young due to a mutation in the hepatocyte nuclear factor-4 alpha binding site in the promoter of the hepatocyte nuclear factor-1 alpha gene
    C Gragnoli
    Howard Hughes Medical Institute, University of Chicago, Illinois, USA
    Diabetes 46:1648-51. 1997
    ..factor hepatocyte nuclear factor (HNF)-1 alpha are the cause of one form of maturity-onset diabetes of the young (MODY3)...

Research Grants30

  1. Samir S El-Dahr; Fiscal Year: 2014
    ..that p-p53Ser23, which accumulates in dysplastic BdkrB2-/- kidneys, represses Hepatocyte Nuclear Factor-1 (HNF1[unreadable]) gene transcription...
  2. Michael H Court; Fiscal Year: 2015
    ..in model cell lines and primary human hepatocytes on specific candidate transcription factor proteins (PXR and HNF1) as well as the entire proteome (iTRAQ LC-MS/MS method)...
  3. Megan R Determan; Fiscal Year: 2016
    ..of monogenic diabetes in humans and results from a haploinsufficiency of the transcription factor hepatocyte nuclear factor 1 alpha (HNF1A)...
  4. JAMEY MARTH; Fiscal Year: 2016
    ..in multiple metabolic roles including the pathogenesis of human Mature Onset Diabetes of the Young subtype 3 (MODY3), susceptibility to diabetes among mammalian populations, and the physiological response to nutrient deprivation ..
  5. Metabolic and Mitochondrial Defects of Islet beta-cells of MODY-3
    Gary Cline; Fiscal Year: 2009
    ..MODY-3 is an inherited defect that has been linked to a dominant negative mutation of the hepatic nuclear factor 1 alpha (HNF-1alpha) transcription factor...
  6. Weibin Shi; Fiscal Year: 2016
    ..In Aim 2, we will conduct functional study to test Hnf1a as a promising candidate gene for the chromosome 5 QTLs...
  7. G-quadruplex in Translational Regulation and Cancer Therapy
    Hong Lu; Fiscal Year: 2013
    ..Aim 2 will determine role of G4 motif within 5'UTR of human HNF1?, HNF3?, C/EBP?, C/EBP?, HDAC3, NCOR1, and p53 in regulating protein expression...
  8. CHARLES ALFRED STANLEY; Fiscal Year: 2016
    ..candidate genes, including the novel gene on 10q that will be identified in Aim 1, HADH/SCHAD, SLC16A1/MCT-1, TCF1/HNF1, TCF4/HNF4, SIR2L4/SIRT4, and others...
  9. Domenico Accili; Fiscal Year: 2016
    ..cells devlop MODY, with striking abnormalities of the transcriptional networks regulated by Hnf4a, Hnf1a, and Pd1...
  10. Joonsoo Kang; Fiscal Year: 2016
    ..T?[unreadable]17 cell fate has so far revealed five essential transcription factors (TFs): SOX13, SOX4, ROR?t, TCF1 and LEF1, of which only one, ROR?t, was previously identified...
  11. Hai Hui Xue; Fiscal Year: 2014
    ..The T cell factor 1 (TCF1) transcription factor is known to mediate the canonical Wnt signaling and play important roles in T cell ..
  12. Program Project in the Genetics of SLE
    Robert P Kimberly; Fiscal Year: 2012
    ..the strong association at 12q24 with SLE in Hispanics and test the hypothesis that this effect reflects variants of TCF1. Project No...
  13. Jingwen Liu; Fiscal Year: 2016
    ..has made a novel discovery that PCSK9 gene transcription is regulated by the hepatocyte nuclear factor 1? (HNF1?) through a highly conserved HNF1 binding site of the PCSK9 gene promoter, whereas HNF1? binding site is absent on ..
  14. Hex - a Homeobox Gene Essential for Liver Development
    CLIFFORD BOGUE; Fiscal Year: 2007
    ..Those genes include the critically important HNF family members HNF6, HNF1a and HNF4a as well as other factors. In order to test these hypotheses, we propose the following 3 specific aims...
  15. THE ROLE OF NOTCH SIGNALING IN BILE DUCT DEVELOPMENT
    Kathleen Loomes; Fiscal Year: 2004
    ..and assays for up- or down-regulation of other genes known to be involved in bile duct development, such as HNF6 or HNF1(...
  16. Molecular Mechanism of Paraxial Mesoderm Formation
    Deborah Chapman; Fiscal Year: 2006
    ..The prime candidates are LEF-1/TCF1, which function through the secreted signaling molecule Wnt-3a, and RBP-JK, which functions in the Notch signaling ..
  17. REGULATION OF INTESTINE-SPECIFIC GENE TRANSCRIPTION
    Eunran Suh; Fiscal Year: 2006
    ..protein and transcriptional activity of Cdx2 is enhanced by forming a complex with hepatocyte nuclear factor 1 (HNF1), GATA factors, and coactivators such as CBP and PCAF...
  18. REPLICATION AND PATHOGENESIS OF HEPATITIS B VIRUS
    J H James Ou; Fiscal Year: 2001
    ..The study will focus on a critical regulatory site that binds COUP, HNF4, PPAR-RXR, and when mutated, HNF1. Preliminary studies have also characterized an upstream negative regulatory element (NRE) that binds RFX1/MDBP1 ..
  19. GENETIC AND MOLECULAR ANALYSIS OF LIVER SPECIFICATION
    GARY BULLA; Fiscal Year: 1999
    ..cascade has recently been identified in which transcription factor HNF4 drives expression transcription factor HNF1 which is responsible for activating expression of a number of essential liver genes...
  20. HNF1 transcriptional control of renal oxidative stress
    Peter Doris; Fiscal Year: 2009
    ..to be regulated by a single transcription factor abundantly expressed in kidney: hepatocyte nuclear factor 1, HNF1. In the present studies, we will extend our gene array and bioinformatics methods to develop direct evidence ..
  21. WNT Receptor Signaling and Cancer
    Stuart Aaronson; Fiscal Year: 2009
    ..on our preliminary evidence, we will also attempt to identify coactivator(s) for a novel b-catenin independent TCF1/LEF1 signaling pathway...
  22. Genetic contributors to diabetes and dyslipidemia in African Americans
    Michele M Sale; Fiscal Year: 2010
    ..We propose applying this proven strategy to identify new therapeutic targets and allow translation to novel diagnostic, prevention, and treatment strategies for type 2 diabetes. ..
  23. A mouse model of stem cell deregulation and lung cancer
    JOSEPH LOCKER LOCKER; Fiscal Year: 2010
    ..8 expression in human lung cancer cells. Expression profiles from these cells will be com- pared to those obtained from mouse bronchial cell fractions, to determine specific relationships between tumor and stem cell regulation. ..
  24. THROMBOTIC, INFLAMMATORY & GENE MARKERS OF CVD IN WOMEN
    Paul Ridker; Fiscal Year: 2002
    ....
  25. Acetaminophen Pharmacogenetics
    Michael H Court; Fiscal Year: 2010
    ....
  26. SECONDARY PREVENTION TRIAL OF VENOUS THROMBOSIS
    Paul Ridker; Fiscal Year: 2002
    ....
  27. Lipoprotein Metabolism 2008 Gordon Research Conference
    Robert Hegele; Fiscal Year: 2008
    ..End of Abstract) [unreadable] [unreadable] [unreadable]..
  28. Analysis of Fatty Liver in the Framingham Heart Study Cohort
    ELIZABETH SPELIOTES; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable] [unreadable]..
  29. LONG DISTANCE CONTROL OF LIVER GENE EXPRESSION
    Joseph Locker; Fiscal Year: 2007
    ..In the AIb _romoter, HNF1 is the critical enhancer-activating factor...
  30. Mechanisms of adverse host responses to antibiotics
    Michael Court; Fiscal Year: 2006
    ..unreadable] [unreadable] [unreadable]..