HFE

Summary

Gene Symbol: HFE
Description: hemochromatosis
Alias: HFE1, HLA-H, MVCD7, TFQTL2, hereditary hemochromatosis protein, MHC class I-like protein HFE, hereditary hemochromatosis protein HLA-H, high Fe
Species: human

Top Publications

  1. ncbi A hemochromatosis-causing mutation C282Y is a risk factor for proliferative diabetic retinopathy in Caucasians with type 2 diabetes
    Borut Peterlin
    Division of Medical Genetics, Department of Obstetrics and Gynecology, University Medical Centre, Ljubljana, Slovenia
    J Hum Genet 48:646-9. 2003
  2. ncbi Haptoglobin type neither influences iron accumulation in normal subjects nor predicts clinical presentation in HFE C282Y haemochromatosis: phenotype and genotype analysis
    Kymberley Carter
    Department of Haematology, University of Wales College of Medicine, Cardiff, UK
    Br J Haematol 122:326-32. 2003
  3. pmc Impact of hemochromatosis gene (HFE) mutations on epithelial ovarian cancer risk and prognosis
    Philippe O Gannon
    Centre de recherche du Centre Hospitalier de l Universite de Montreal, Institut du Cancer de Montreal, Montreal, Quebec, Canada
    Int J Cancer 128:2326-34. 2011
  4. ncbi HFE mutations in an inflammatory arthritis population
    G Willis
    Department of Molecular Genetics, Norfolk and Norwich University Hospital, Colney Lane, Norwich, UK
    Rheumatology (Oxford) 41:176-9. 2002
  5. ncbi Hereditary hemochromatosis: the clinical significance of the S65C mutation
    Arne Asberg
    Department of Clinical Chemistry, Trondheim University Hospital, Trondheim, Norway
    Genet Test 6:59-62. 2002
  6. pmc Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels
    Beben Benyamin
    Queensland Institute of Medical Research, Brisbane 4029, Australia
    Am J Hum Genet 84:60-5. 2009
  7. ncbi The C282Y mutation causing hereditary hemochromatosis does not produce a null allele
    J E Levy
    Division of Hematology Oncology, Children s Hospital, Howard Hughes Medical Institute, Boston, MA, USA
    Blood 94:9-11. 1999
  8. pmc Interaction of the hereditary hemochromatosis protein HFE with transferrin receptor 2 is required for transferrin-induced hepcidin expression
    Junwei Gao
    Department of Cell and Developmental Biology, Oregon Health and Science University, Portland, OR 97239, USA
    Cell Metab 9:217-27. 2009
  9. ncbi A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
    J N Feder
    Mercator Genetics, Inc, Menlo Park, California 94025, USA
    Nat Genet 13:399-408. 1996
  10. ncbi Association between hemochromatosis (HFE) gene mutation carrier status and the risk of colon cancer
    Nicholas J Shaheen
    Center for Gastrointestinal Biology and Disease and Division of Digestive Diseases and Nutrition, University of North Carolina, Chapel Hill 27599 7080, USA
    J Natl Cancer Inst 95:154-9. 2003

Research Grants

  1. Genetic modifiers of hemochromatosis phenotype
    Dorota Gertig; Fiscal Year: 2006
  2. HFE/Transferrin Receptor/Transferrin Interactions
    PAMELA BJORKMAN; Fiscal Year: 2006
  3. Jodie L Babitt; Fiscal Year: 2016
  4. Retinal Iron Homeostasis in Health and Disease
    Vadivel Ganapathy; Fiscal Year: 2013
  5. Metalloreductases in Medicine
    Mark D Fleming; Fiscal Year: 2010
  6. CAROLINE ENNS; Fiscal Year: 2016
  7. DERMATOREMEDIATION OF IRON OVERLOAD
    Leonard M Milstone; Fiscal Year: 2010
  8. CAROLINE ENNS; Fiscal Year: 2016
  9. Ferristatin: A New Small Molecule Inhibitor of Iron Transport
    Marianne Wessling Resnick; Fiscal Year: 2010
  10. Genetic Modifiers of Iron Status in Hemochromatosis HFE C282Y Homozygotes
    Gordon D McLaren; Fiscal Year: 2011

Detail Information

Publications283 found, 100 shown here

  1. ncbi A hemochromatosis-causing mutation C282Y is a risk factor for proliferative diabetic retinopathy in Caucasians with type 2 diabetes
    Borut Peterlin
    Division of Medical Genetics, Department of Obstetrics and Gynecology, University Medical Centre, Ljubljana, Slovenia
    J Hum Genet 48:646-9. 2003
    ..C282Y and H63D mutations in the hemochromatosis (HFE) gene are associated with increased serum iron levels and consequently with hereditary hemochromatosis...
  2. ncbi Haptoglobin type neither influences iron accumulation in normal subjects nor predicts clinical presentation in HFE C282Y haemochromatosis: phenotype and genotype analysis
    Kymberley Carter
    Department of Haematology, University of Wales College of Medicine, Cardiff, UK
    Br J Haematol 122:326-32. 2003
    In the UK, 90% of patients with hereditary haemochromatosis (HH) are homozygous for HFE C282Y, as are one in 150 people in the general population. However, only a minority of these will develop clinical haemochromatosis...
  3. pmc Impact of hemochromatosis gene (HFE) mutations on epithelial ovarian cancer risk and prognosis
    Philippe O Gannon
    Centre de recherche du Centre Hospitalier de l Universite de Montreal, Institut du Cancer de Montreal, Montreal, Quebec, Canada
    Int J Cancer 128:2326-34. 2011
    ..Cellular iron uptake is regulated by the transferrin receptor and the hemochromatosis protein (HFE) system...
  4. ncbi HFE mutations in an inflammatory arthritis population
    G Willis
    Department of Molecular Genetics, Norfolk and Norwich University Hospital, Colney Lane, Norwich, UK
    Rheumatology (Oxford) 41:176-9. 2002
    To determine the value of screening patients with inflammatory arthritis for haemochromatosis-associated mutations in the HFE gene.
  5. ncbi Hereditary hemochromatosis: the clinical significance of the S65C mutation
    Arne Asberg
    Department of Clinical Chemistry, Trondheim University Hospital, Trondheim, Norway
    Genet Test 6:59-62. 2002
    ..Most cases are homozygous for the C282Y mutation in the HFE gene; a few are C282Y heterozygous, compound C282Y/H63D heterozygous, or have no known mutation...
  6. pmc Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels
    Beben Benyamin
    Queensland Institute of Medical Research, Brisbane 4029, Australia
    Am J Hum Genet 84:60-5. 2009
    ..found two additional and independent SNPs on TF (rs1799852 and rs2280673) and confirmed the known C282Y mutation in HFE to be independently associated with serum transferrin...
  7. ncbi The C282Y mutation causing hereditary hemochromatosis does not produce a null allele
    J E Levy
    Division of Hematology Oncology, Children s Hospital, Howard Hughes Medical Institute, Boston, MA, USA
    Blood 94:9-11. 1999
    Targeted mutagenesis was used to produce two mutations in the murine hemochromatosis gene (Hfe) locus. The first mutation deletes a large portion of the coding sequence, generating a null allele...
  8. pmc Interaction of the hereditary hemochromatosis protein HFE with transferrin receptor 2 is required for transferrin-induced hepcidin expression
    Junwei Gao
    Department of Cell and Developmental Biology, Oregon Health and Science University, Portland, OR 97239, USA
    Cell Metab 9:217-27. 2009
    ..Patients with the most common form of hereditary iron overload have mutations in the hereditary hemochromatosis protein HFE. They have lower levels of hepcidin than unaffected individuals...
  9. ncbi A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
    J N Feder
    Mercator Genetics, Inc, Menlo Park, California 94025, USA
    Nat Genet 13:399-408. 1996
    ..A role of this gene in haemochromatosis is supported by the frequency and nature of the major mutation and prior studies implicating MHC class I-like proteins in iron metabolism...
  10. ncbi Association between hemochromatosis (HFE) gene mutation carrier status and the risk of colon cancer
    Nicholas J Shaheen
    Center for Gastrointestinal Biology and Disease and Division of Digestive Diseases and Nutrition, University of North Carolina, Chapel Hill 27599 7080, USA
    J Natl Cancer Inst 95:154-9. 2003
    Iron is a pro-oxidant that may promote carcinogenesis. Mutations in the hemochromatosis (HFE) gene are associated with increased total body iron stores in some individuals...
  11. pmc Traffic-related air pollution and QT interval: modification by diabetes, obesity, and oxidative stress gene polymorphisms in the normative aging study
    Emmanuel S Baja
    Department of Environmental Health, Harvard School of Public Health, Boston, Massachusetts 02115, USA
    Environ Health Perspect 118:840-6. 2010
    ..Acute exposure to ambient air pollution has been associated with acute changes in cardiac outcomes, often within hours of exposure...
  12. ncbi Crystal structure of the hereditary haemochromatosis protein HFE complexed with transferrin receptor
    M J Bennett
    Division of Biology, California Institute of Technology, Pasadena 91125, USA
    Nature 403:46-53. 2000
    b>HFE is related to major histocompatibility complex (MHC) class I proteins and is mutated in the iron-overload disease hereditary haemochromatosis...
  13. ncbi Serum measures of iron status and HFE gene mutations in patients with hepatitis B virus infection
    Tahereh Ghaziani
    Department of Medicine, University of Connecticut Health Center, Farmington, USA
    Hepatol Res 37:172-8. 2007
    We tested associations between HFE mutations and hepatitis B virus (HBV) infection. We also explored measures of total body iron status and their association with chronic HBV infection.
  14. pmc The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding
    J N Feder
    Progenitor, Inc formerly Mercator Genetics, Inc, 4040 Campbell Avenue, Menlo Park, CA 94025, USA
    Proc Natl Acad Sci U S A 95:1472-7. 1998
    We recently reported the positional cloning of a candidate gene for hereditary hemochromatosis called HFE. The gene product, a member of the major histocompatibility complex class I-like family, was found to have a mutation, Cys-282 --&..
  15. ncbi Effect of hemochromatosis genotype and lifestyle factors on iron and red cell indices in a community population
    E Rossi
    Biochemistry Section, PathCentre, QE II Medical Centre, Nedlands, Western Australia 6009, Australia
    Clin Chem 47:202-8. 2001
    Heterozygotes for the C282Y mutation of the HFE gene may have altered hematology indices and higher iron stores than wild-type subjects.
  16. ncbi A previously undescribed nonsense mutation of the HFE gene
    E Beutler
    The Scripps Research Institute, Department of Molecular and Experimental Medicine, Division of Hematology, La Jolla, CA 92037, USA
    Clin Genet 61:40-2. 2002
    ..heterozygotes for this mutation do not develop the hemochromatosis phenotype, the coding region of the patient's HFE gene was sequenced and a previously undescribed nonsense mutation was identified at c.211 C-->T (R74X)...
  17. ncbi Hemochromatosis gene mutations among Finnish male breast and prostate cancer patients
    Kirsi Syrjakoski
    Laboratory of Cancer Genetics, Institute of Medical Technology, University of Tampereand Tampere University Hospital, Tampere, Finland
    Int J Cancer 118:518-20. 2006
    ..The association between hepatocellular carcinoma and HFE homozygosity is well documented, but recently HFE hetero- and homozygosity has also been linked to ..
  18. doi Mutations in HFE causing hemochromatosis are associated with primary hypertriglyceridemia
    Maria Solanas-Barca
    Unidad de Lípidos and Laboratorio de Investigación Molecular, Hospital Universitario Miguel Servet, Instituto Aragones de Ciencias de la Salud I CS, 50009 Zaragoza, Spain
    J Clin Endocrinol Metab 94:4391-7. 2009
    ..Elevated iron storage is associated with metabolic syndrome, diabetes, and obesity, and all of them are associated with HTG...
  19. doi Serum iron parameters, HFE C282Y genotype, and cognitive performance in older adults: results from the FACIT study
    Olga J G Schiepers
    Department of Psychiatry and Neuropsychology, Maastricht University, Maastricht, The Netherlands
    J Gerontol A Biol Sci Med Sci 65:1312-21. 2010
    ..In the present study, serum iron parameters and hemochromatosis (HFE) C282Y genotype were determined in 818 older individuals who participated in a 3-year randomized, placebo-..
  20. pmc Differential HFE gene expression is regulated by alternative splicing in human tissues
    Rute Martins
    Departamento de Genetica, Instituto Nacional de Saude Dr Ricardo Jorge, Lisboa, Portugal
    PLoS ONE 6:e17542. 2011
    The pathophysiology of HFE-derived Hereditary Hemochromatosis and the function of HFE protein in iron homeostasis remain uncertain...
  21. pmc An association study of HFE gene mutation with idiopathic male infertility in the Chinese Han population
    Xiao Ying Yu
    Institute of Reproductive Medicine, Yijishan Hospital, Wannan Medical College, Wuhu 241001, China
    Asian J Androl 14:599-603. 2012
    Mutations in the haemochromatosis gene (HFE) influence iron status in the general population of Northern Europe, and excess iron is associated with the impairment of spermatogenesis...
  22. ncbi The HFE gene undergoes alternate splicing processes
    A Thénié
    UPR41 CNRS, Faculte de Medecine, Rennes, France
    Blood Cells Mol Dis 26:155-62. 2000
    The MHC class I-related HFE gene appears to be involved in iron metabolism, but its pathogenic mechanism in hemochromatosis remains unknown. Furthermore, very little is known about the regulation of its expression...
  23. ncbi Complete characterization of the 3' region of the human and mouse hereditary hemochromatosis HFE gene and detection of novel splicing forms
    M Sanchez
    Human Genome Laboratory, Faculty of Medicine, University of Barcelona, Casanova 143, Barcelona, 08036, Spain
    Blood Cells Mol Dis 27:35-43. 2001
    The human HFE gene was identified in 1996 as the gene whose mutations are responsible for hereditary hemochromatosis in most patients. Expression analysis by Northern blot indicated that the gene was approximately 4.1 kb in length...
  24. ncbi Association between the MHC class I gene HFE polymorphisms and longevity: a study in Sicilian population
    D Lio
    Dipartimento di Biopatologia e Metodologie Biomediche, Universita di Palermo, Palermo, Italy
    Genes Immun 3:20-4. 2002
    ..The HLA class I gene HFE seemingly no longer participates in immunity because it has lost its ability to bind peptides and it has acquired ..
  25. ncbi The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression
    J N Feder
    Mercator Genetics, Inc, Menlo Park, California 94025, USA
    J Biol Chem 272:14025-8. 1997
    ..This report describes the first functional significance of the C282Y mutation by suggesting that an abnormality in protein trafficking and/or cell-surface expression of HLA-H leads to HH disease...
  26. doi A CSF biomarker panel for identification of patients with amyotrophic lateral sclerosis
    R M Mitchell
    Department of Neurosurgery, Pennsylvania State University College of Medicine Milton S Hershey Medical Center, Hershey, PA 17033 0850, USA
    Neurology 72:14-9. 2009
    ..Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease with complicated pathogenesis that poses challenges with respect to diagnosis and monitoring of disease progression...
  27. ncbi A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations
    A T Merryweather-Clarke
    MRC Molecular Haematology Unit, Institute of Molecular Medicine, Headington, Oxford, UK
    Hum Mutat 13:154-9. 1999
    ..random anonymized dried blood spot (DBS) samples from neonatal screening programs in Scandinavia for mutations in HFE, the candidate gene for hemochromatosis. We have found C282Y allele frequencies of 2.3% (+2.0%) (-1...
  28. ncbi Prevalence of HFE mutations in upper Northern Italy: study of 1132 unrelated blood donors
    R Mariani
    Clinical Medicine and Transfusion Service, San Gerardo Hospital, University of Milano Bicocca, Monza, Italy
    Dig Liver Dis 35:479-81. 2003
    ..We hypothesised a higher prevalence of C282Y in Northern than in Central and Southern Italy. We previously identified a nonsense mutation (W169X) in haemochromatosis probands originating from a Northern Italian region (Brianza)...
  29. ncbi Mixture distribution analysis of phenotypic markers reflecting HFE gene mutations
    Christine E McLaren
    Department of Medicine, Epidemiology Division, University of California, 224 Irvine Hall, Irvine, CA 92697 7550, USA
    Blood 102:4563-6. 2003
    ..Identifying mutations in the HFE gene makes it possible to assess the association between transferrin saturation (TS) subpopulations and HFE ..
  30. ncbi Haemochromatosis-causing mutations C282Y and H63D are not risk factors for coronary artery disease in Caucasians with type 2 diabetes
    M Zorc
    Institute of Histology and Embryology, Medical Faculty, University of Ljubljana, Ljubljana, Slovenia
    Folia Biol (Praha) 50:69-70. 2004
    Iron metabolism might be involved in the pathogenesis of CAD, and C282Y and H63D mutations in the HFE gene are associated with increased serum iron levels and net iron accumulation...
  31. pmc Variable phenotypic presentation of iron overload in H63D homozygotes: are genetic modifiers the cause?
    P Aguilar-Martinez
    Laboratory of Haematology, CHU of Montpellier, 34295 Montpellier, France
    Gut 48:836-42. 2001
    First considered as a polymorphism of the HFE gene, the H63D mutation is now widely recognised as a haemochromatosis associated allele...
  32. ncbi HFE mutations, iron deficiency and overload in 10,500 blood donors
    H A Jackson
    Department of Haematology, University of Wales College of Medicine and University Hospital of Wales, Cardiff, UK
    Br J Haematol 114:474-84. 2001
    ..In populations of northern European origin, over 90% of patients are homozygous for the C282Y mutation of the HFE gene...
  33. ncbi Haptoglobin phenotype 2-2 overrepresentation in Cys282Tyr hemochromatotic patients
    H Van Vlierberghe
    Department of Gastroenterology, Ghent University Hospital, Ghent, Belgium
    J Hepatol 35:707-11. 2001
    Patients with genotypic Cys282Tyr homozygous hemochromatosis differ largely in phenotypic presentation. The HFE mutation on itself does not explain the different manifestations of hemochromatosis...
  34. ncbi Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA
    Ernest Beutler
    Scripps Research Institute, Department of Molecular and Experimental Medicine, Divisions of Hematology, La Jolla, CA 92037, USA
    Lancet 359:211-8. 2002
    ..A favoured candidate has been the HFE gene, mutations of which are the most common cause of haemochromatosis in the European population...
  35. ncbi HFE gene mutations in alcoholic and virus-related cirrhotic patients with hepatocellular carcinoma
    Eugenia Lauret
    Department of Gastroenterology, Hospital Central de Asturias, Spain
    Am J Gastroenterol 97:1016-21. 2002
    ..The aim of this study was to investigate the association between HFE gene mutations (C282Y, H63D) and hepatocellular carcinoma in patients with alcoholic and virus-related cirrhosis.
  36. ncbi Mutations in the hemochromatosis gene (HFE) and stroke
    Omer T Njajou
    Department of Epidemiology and Biostatistics, Erasmus Medical Centre, Rotterdam, The Netherlands
    Stroke 33:2363-6. 2002
    Increased serum iron is found to be a risk factor for stroke. Carriers of HFE C282Y and H63D mutations have elevated serum iron levels and may have an increased risk for stroke...
  37. ncbi Prevalence and penetrance of HFE mutations in 4865 unselected primary care patients
    Pradyumna D Phatak
    Rochester General Hospital, 1425 Portland Avenue, Rochester, NY 14621, USA
    Blood Cells Mol Dis 29:41-7. 2002
    Two HFE gene mutations, C282Y and H63D, underlie the vast majority of cases of hereditary hemochromatosis...
  38. ncbi Haematological effects of the C282Y HFE mutation in homozygous and heterozygous states among subjects of northern and southern European ancestry
    Ernest Beutler
    The Scripps Research Institute, Department of Molecular and Experimental Medicine, La Jolla, CA, USA
    Br J Haematol 120:887-93. 2003
    High frequencies of the C282Y and H63D mutations of the HFE gene occur in European populations, even though homozygous and compound heterozygous states are associated with hereditary haemochromatosis, which is a disease that decreases ..
  39. ncbi Association of HFE mutations with neurodegeneration and oxidative stress in Alzheimer's disease and correlation with APOE
    Joseph F Pulliam
    Department of Pathology, University of Kentucky, Lexington, Kentucky 40536, USA
    Am J Med Genet B Neuropsychiatr Genet 119:48-53. 2003
    ..several genetic loci associated with AD, the locus at chromosome 6p21 contains the hereditary hemochromatosis gene HFE. To determine whether a genetic predisposition to iron accumulation is associated with AD, we evaluated three ..
  40. ncbi Association between the HFE mutations and unsuccessful ageing: a study in Alzheimer's disease patients from Northern Italy
    Giuseppina Candore
    Gruppo di Studio sull Immunosenescenza, Dipartimento di Biopatologia e Metodologie Biomediche, Universita di Palermo, Corso Tukory 211, 90134, Palermo, Italy
    Mech Ageing Dev 124:525-8. 2003
    Mutations in the class I-like Major Histocompatibility Complex gene HFE are associated with hereditary hemochromatosis (HH), a disorder caused by excessive iron uptake. Three common mutations have been found: C282Y, H63D, and S65C...
  41. pmc Haemochromatosis (HFE) gene C282Y mutation and the risk of coronary artery disease and myocardial infarction: a study in 1279 patients undergoing coronary angiography
    R Surber
    J Med Genet 40:e58. 2003
  42. ncbi Hereditary hemochromatosis: effect of excessive alcohol consumption on disease expression in patients homozygous for the C282Y mutation
    Virginie Scotet
    INSERM EMI 01 15, Laboratoire de Genetique Moleculaire, CHU Morvan, Brest, France
    Am J Epidemiol 158:129-34. 2003
    ..A single mutation (C282Y) in the HFE gene is present in 80-95% of cases in populations of northern European extraction...
  43. pmc The prevalence of haemochromatosis gene mutations in the West of Scotland and their relation to ischaemic heart disease
    S Campbell
    Department of Gastroenterology, Gartnavel General Hospital, Glasgow, UK
    Heart 89:1023-6. 2003
    ..This study aims to determine whether the two major mutations of the haemochromatosis (HFE) gene (C282Y and H63D) are associated with ischaemic heart disease (IHD) or myocardial infarction (MI).
  44. ncbi HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype
    Sandrine Jacolot
    INSERM, EMI 0115, Brest, France
    Blood 103:2835-40. 2004
    ..The most common form of the disorder is an adult-onset form that has mainly been associated with the HFE pC282Y/pC282Y genotype...
  45. ncbi HFE C282Y heterozygosity in hepatocellular carcinoma: evidence for an increased prevalence
    Claus Hellerbrand
    Department of Internal Medicine I, University of Regensburg, D 93042 Regensburg, Germany
    Clin Gastroenterol Hepatol 1:279-84. 2003
    ..The discovery of the HH gene HFE has enabled identification of the heterozygote status...
  46. ncbi Increased incidence of the Hfe mutation in amyotrophic lateral sclerosis and related cellular consequences
    Xin Sheng Wang
    Department of Neurosurgery, Penn State College of Medicine, Hershey, PA 17033, USA
    J Neurol Sci 227:27-33. 2004
    ..One mechanism by which cells fail to properly regulate their iron status is through a mutation in the Hfe gene. Mutations in the Hfe gene are associated with the iron overload disease, hemochromatosis...
  47. ncbi Transferrin receptor co-localizes and interacts with the hemochromatosis factor (HFE) and the divalent metal transporter-1 (DMT1) in trophoblast cells
    Yaron Gruper
    Department of Cell Research and Immunology, The George S Wise Faculty of Life Sciences, Tel Aviv University, Israel
    J Cell Physiol 204:901-12. 2005
    ..were recently characterized, including DMT1 and ferroportin/Ireg1 that transport iron through membranes, and HFE that regulates TfR-mediated iron uptake...
  48. pmc Impact of HFE genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data
    Virginie Scotet
    INSERM U 613 Génétique Moléculaire et Génétique Epidémiologique, Brest, France
    BMC Med Genet 6:24. 2005
    ..The discovery of a candidate gene in 1996 (HFE), and of its main mutation (C282Y), has radically altered the way to diagnose this disease...
  49. ncbi HFE genotypes and dietary heme iron: no evidence of strong gene-nutrient interaction on serum ferritin concentrations in middle-aged women
    Daphne L van der A
    Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, The Netherlands
    Nutr Metab Cardiovasc Dis 16:60-8. 2006
    Hereditary hemochromatosis (HH) is a disorder characterized by inappropriately high intestinal iron absorption. In populations of Northern European descent, HH is most commonly caused by mutations (C282Y/H63D) in the HFE gene.
  50. doi Iron-overload-related disease in HFE hereditary hemochromatosis
    Katrina J Allen
    Murdoch Children s Research Institute, University of Melbourne, Melbourne, Australia
    N Engl J Med 358:221-30. 2008
    Most persons who are homozygous for C282Y, the HFE allele most commonly asssociated with hereditary hemochromatosis, have elevated levels of serum ferritin and transferrin saturation...
  51. pmc Influence of HFE variants and cellular iron on monocyte chemoattractant protein-1
    Ryan M Mitchell
    George M Leader Family Laboratory, Department of Neurosurgery, Pennsylvania State University College of Medicine Milton S Hershey Medical Center, Hershey, PA 17033, USA
    J Neuroinflammation 6:6. 2009
    Polymorphisms in the MHC class 1-like gene known as HFE have been proposed as genetic modifiers of neurodegenerative diseases that include neuroinflammation as part of the disease process...
  52. pmc Mutation analysis of the HLA-H gene in Italian hemochromatosis patients
    M Carella
    IRCCS CSS San Giovanni Rotondo, Foggia, Italy
    Am J Hum Genet 60:828-32. 1997
    ..The existence of patients with clinical and histological features of HH, but without mutations in HLA-H gene, suggests that in Italy the disease is more heterogeneous than reported in northern Europe...
  53. pmc Global prevalence of putative haemochromatosis mutations
    A T Merryweather-Clarke
    MRC Molecular, Haematology Unit, John Radcliffe Hospital, Headington, Oxford, UK
    J Med Genet 34:275-8. 1997
    ..The H63D polymorphism is more widely distributed and its connection with haemochromatosis remains unclear...
  54. ncbi Molecular medicine and hemochromatosis: at the crossroads
    B R Bacon
    Department of Internal Medicine, Saint Louis University School of Medicine, St Louis, Missouri, USA
    Gastroenterology 116:193-207. 1999
  55. ncbi Alternate splice variants of the hemochromatosis gene Hfe
    D A Rhodes
    Division of Immunology, Department of Pathology, University of Cambridge, Tennis Court Road, Cambridge CB2 1QP, UK
    Immunogenetics 49:357-9. 1999
  56. ncbi The hereditary hemochromatosis protein, HFE, specifically regulates transferrin-mediated iron uptake in HeLa cells
    C N Roy
    Department of Cell and Developmental Biology, Oregon Health Sciences University, Portland, Oregon 97201 3098, USA
    J Biol Chem 274:9022-8. 1999
    b>HFE is the protein product of the gene mutated in the autosomal recessive disease hereditary hemochromatosis (Feder, J. N., Gnirke, A., Thomas, W., Tsuchihashi, Z., Ruddy, D. A., Basava, A., Dormishian, F., Domingo, R. J., Ellis, M. C...
  57. ncbi HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis
    C Mura
    Centre de Biogenetique, ETSBO, CHU, UBO, BP454, Brest, France
    Blood 93:2502-5. 1999
    Hereditary hemochromatosis (HH) is a common autosomal recessive genetic disorder of iron metabolism. The HFE candidate gene encoding an HLA class I-like protein involved in HH was identified in 1996...
  58. pmc Haemochromatosis gene mutations in idiopathic dilated cardiomyopathy
    N G Mahon
    Department of Cardiological Sciences, St George s Hospital Medical School, Cranmer Terrace, London SW17 0RE, UK
    Heart 84:541-7. 2000
    Two common mutations of the haemochromatosis associated gene (HFE) (cys282tyr (C282Y) and his63asp (H63D)) have been implicated in haemochromatosis and as modulators in cardiovascular disease.
  59. ncbi Co-inheritance of mutations in the uroporphyrinogen decarboxylase and hemochromatosis genes accelerates the onset of porphyria cutanea tarda
    J J Brady
    Department of Medical Biochemistry, University Hospital of Wales and University of Wales College of Medicine, Heath Park, Cardiff, UK
    J Invest Dermatol 115:868-74. 2000
    ....
  60. ncbi A prospective study of coronary heart disease and the hemochromatosis gene (HFE) C282Y mutation: the Atherosclerosis Risk in Communities (ARIC) study
    M L Rasmussen
    Division of Epidemiology, School of Public Health, University of Minnesota, Suite 300, 1300 South 2nd Street, Minneapolis, MN 55454 1015, USA
    Atherosclerosis 154:739-46. 2001
    ..Recently, mutations have been discovered in the gene (HFE) for hereditary hemochromatosis, an autosomal recessive condition of disordered iron metabolism, absorption, and ..
  61. ncbi Prevalence of C282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States
    K K Steinberg
    Molecular Biology Branch, National Center for Environmental Health, Mailstop F 24, Chamblee, GA 30341, USA
    JAMA 285:2216-22. 2001
    Population-based estimates of the prevalence of disease-associated mutations, such as hemochromatosis (HFE) gene mutations, are needed to determine the usefulness of genetic screening.
  62. ncbi Frequency of the hemochromatosis C282Y and H63D mutations in a Polish population of Slavic origin
    D K Moczulski
    Department of Internal Medicine and Diabetes, Medical University, ul 3 Maja 13 15, 41 100 Zabrze, Poland
    Med Sci Monit 7:441-3. 2001
    ..The most frequent mutation causing hemochromatosis is C282Y in the HFE gene, the highest frequency of which has been observed in populations of Celtic origin...
  63. ncbi Haemochromatosis mutations and ferritin in myocardial infarction: a case-control study
    Dirk Claeys
    Swiss Heart Center, Thrombosis Research Laboratory, Kinder Klinik G4, University Hospital Bern, CH 3010 Bern, Switzerland
    Eur J Clin Invest 32:3-8. 2002
    ..Epidemiological studies of iron status and coronary heart disease are conflicting...
  64. ncbi Co-selection of the H63D mutation and the HLA-A29 allele: a new paradigm of linkage disequilibrium?
    Carla S Cardoso
    Molecular Immunology and Pathology, Abel Salazar Institute for the Biomedical Sciences, Lg Prof Abel Salazar 2, 4050 Porto, Portugal
    Immunogenetics 53:1002-8. 2002
    ..A recent example of such conservation is the association of particular HLA haplotypes with the HFE mutations...
  65. ncbi Hereditary hemochromatosis: detection of C282Y and H63D mutations in HFE gene by means of guthrie cards in population of Czech Republic
    Marketa Cimburova
    Center of Preventive Medicine, Division of Health of Children and Youth, Third Faculty of Medicine, Charles University, Prague, Czech Republic
    Genet Epidemiol 23:260-3. 2002
    The aim of this study was to establish the prevalence of HFE gene mutations in the population of the Czech Republic...
  66. ncbi No increase in mortality and morbidity among carriers of the C282Y mutation of the hereditary haemochromatosis gene in the oldest old: the Leiden 85-plus study
    M O van Aken
    LUMC, Leiden, The Netherlands
    Eur J Clin Invest 32:750-4. 2002
    The C282Y mutation in the gene for haemochromatosis (HFE) has been associated with various diseases at middle age. However, recent studies indicate that penetrance of the C282Y mutation is low...
  67. pmc Contribution of the H63D mutation in HFE to murine hereditary hemochromatosis
    Shunji Tomatsu
    Edward A Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, St Louis, MO 63104, USA
    Proc Natl Acad Sci U S A 100:15788-93. 2003
    ..The C282Y mutation in the HFE gene explains 80-90% of all diagnosed cases of HH in populations of northwestern European ancestry...
  68. ncbi Increased prevalence of the HFE C282Y hemochromatosis allele in women with breast cancer
    Asha R Kallianpur
    Department of Medicine, Division of General Internal Medicine, Vanderbilt University Medical Center, and VA Center for Health Services Research, Veterans Affairs Medical Center, Nashville, Tennessee, USA
    Cancer Epidemiol Biomarkers Prev 13:205-12. 2004
    Individuals with the major hemochromatosis (HFE) allele C282Y and iron overload develop hepatocellular and some extrahepatic malignancies at increased rates...
  69. pmc HFE C282Y and H63D in adults with malignancies in a community medical oncology practice
    James C Barton
    Southern Iron Disorders Center, Birmingham, Alabama, USA
    BMC Cancer 4:6. 2004
    We sought to compare frequencies of HFE C282Y and H63D alleles and associated odds ratios (OR) in 100 consecutive unrelated white adults with malignancy to those in 318 controls.
  70. ncbi Molecular diagnosis of hereditary hemochromatosis: application of a newly-developed reverse-hybridization assay in the South African population
    M J Kotze
    Genecare Molecular Genetics Pty Ltd, Christiaan Barnard Memorial Hospital, Cape Town, South Africa
    Clin Genet 65:317-21. 2004
    ..provides a rapid method for simultaneous detection of multiple mutations, which among others includes the HFE gene mutations V53M, V59M, H63D, H63H, S65C, Q127H, E168Q, and C282Y, previously detected in the general South ..
  71. ncbi HFE and transferrin directly compete for transferrin receptor in solution and at the cell surface
    Anthony M Giannetti
    Graduate Option in Biochemistry and Molecular Biophysics, California Institute of Technology, Pasadena, CA 91125, USA
    J Biol Chem 279:25866-75. 2004
    ..TfR) is a dimeric cell surface protein that binds both the serum iron transport protein transferrin (Fe-Tf) and HFE, the protein mutated in patients with the iron overload disorder hereditary hemochromatosis...
  72. ncbi HFE mutations are not strongly associated with sporadic ALS
    A A Yen
    Department of Neurology, Baylor College of Medicine, Houston, TX, USA
    Neurology 62:1611-2. 2004
    ..iron deposition in CNS tissues of ALS patients prompted the authors to examine the prevalence of two common HFE gene mutations linked to iron accumulation and consequent oxidative stress...
  73. ncbi Frequency of the C282Y and H63D mutations of the hemochromatosis gene (HFE) in 2501 ethnic Danes
    Nils Milman
    Department of Medicine B 2142, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, 2100, Copenhagen, Denmark
    Ann Hematol 83:654-7. 2004
    The aim of the study was to assess the frequency of the C282Y and H63D mutations of the hemochromatosis gene (HFE) in ethnic Danes...
  74. ncbi Frequency of HFE mutations among Turkish blood donors according to transferrin saturation: genotype screening for hereditary hemochromatosis among voluntary blood donors in Turkey
    Halis Simsek
    Unit of Gastroenterology, Hacettepe University, Ankara, Turkey
    J Clin Gastroenterol 38:671-5. 2004
    The C282Y and H63D mutations of HFE gene are associated with hereditary hemochromatosis (HH), the most common autosomal recessive disorder in European population...
  75. ncbi Hereditary hemochromatosis gene (HFE) mutations C282Y, H63D and S65C in patients with idiopathic dilated cardiomyopathy
    Jokke Hannuksela
    Department of Clinical Chemistry, University of Oulu, P O Box 5000, Oulu, Finland
    Eur J Heart Fail 7:103-8. 2005
    ..It is therefore not surprising that cardiomyopathy is one of the most severe complications of HH. The HFE gene defects have been thought to contribute to idiopathic dilated cardiomyopathy (IDCM) in some patients, even ..
  76. pmc Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort
    Rita J Guerreiro
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, USA
    BMC Neurol 6:24. 2006
    ..Iron metabolism is associated with the gene hemochromatosis (HFE Human genome nomenclature committee ID:4886), and mutations in HFE are a cause of the iron mismetabolism disease, ..
  77. ncbi Analysis of HFE gene mutations and HLA-A alleles in Brazilian patients with iron overload
    Rodolfo Delfini Cançado
    Department of Internal Medicine, Faculdade de Ciências Médicas da Santa Casa de Misericórdia de São Paulo, Sao Paulo, Brazil
    Sao Paulo Med J 124:55-60. 2006
    ..The objective was to analyze the presence of C282Y, H63D and S65C mutations in the HFE gene and HLA-A alleles for a group of Brazilian patients with iron overload, and to correlate genotype with ..
  78. ncbi HFE mutations and risk of coronary heart disease in middle-aged women
    D L van der A
    University Medical Center Utrecht, The Netherlands
    Eur J Clin Invest 36:682-90. 2006
    Although heterozygosity for the C282Y mutation in the HFE gene has been associated with an increased risk of cardiovascular events, epidemiological studies remain inconclusive...
  79. ncbi The clinical relevance of compound heterozygosity for the C282Y and H63D substitutions in hemochromatosis
    Alissa Walsh
    The Department of Gastroenterology and Hepatology, Royal Brisbane and Women s Hospital, Brisbane, Australia
    Clin Gastroenterol Hepatol 4:1403-10. 2006
    Two major mutations are defined within the hemochromatosis gene, HFE. Although the effects of the C282Y substitution have been well characterized, the clinical significance of the C282Y/H63D state remains unclear...
  80. ncbi H63D homozygotes with hyperferritinaemia: Is this genotype, the primary cause of iron overload?
    Carles de Diego
    Department of Genetics, Hospital Virgen de la Salud, Toledo, Spain
    Eur J Haematol 78:66-71. 2007
    ..Homozygosity for the H63D mutation is associated with increased transferrin saturation (TS) and ferritin levels. Our objective was to find out if the homozygosity of H63D mutation was the primary cause of iron overload...
  81. ncbi Frequency of HFE gene mutations C282Y and H63D in Bosnia and Herzegovina
    Rifet Terzić
    Department of Biology and Human Genetics, Medical School Tuzla, Tuzla, Bosnia and Herzegovina
    Coll Antropol 30:555-7. 2006
    ..prevalence of the C282Y mutation in individuals of the North Western European origin, whereas lower prevalence of HFE gene mutations was detected in the populations from southern European countries...
  82. ncbi Consequences of expressing mutants of the hemochromatosis gene (HFE) into a human neuronal cell line lacking endogenous HFE
    Sang Y Lee
    Department of Neurosurgery, Pennsylvania State University College of Medicine, Hershey, PA 17033 0850, USA
    FASEB J 21:564-76. 2007
    b>HFE mutations have traditionally been associated with the iron overload disorder known as hemochromatosis...
  83. pmc Expression of hereditary hemochromatosis C282Y HFE protein in HEK293 cells activates specific endoplasmic reticulum stress responses
    Matthew W Lawless
    Hepatology Research Division and Department of Clinical Medicine, Institute of Molecular Medicine, Trinity Centre for Health Sciences, Trinity College Dublin, St, James Hospital, Dublin, Ireland
    BMC Cell Biol 8:30. 2007
    ..HH) is a genetic disease associated with iron overload, in which individuals homozygous for the mutant C282Y HFE associated allele are at risk for the development of a range of disorders particularly liver disease...
  84. pmc Modifying effects of the HFE polymorphisms on the association between lead burden and cognitive decline
    Florence T Wang
    Department of Environmental Health, Harvard School of Public Health, Boston, Massachusetts, USA
    Environ Health Perspect 115:1210-5. 2007
    As iron and lead promote oxidative damage, and hemochromatosis (HFE) gene polymorphisms increase body iron burden, HFE variant alleles may modify the lead burden and cognitive decline relationship.
  85. ncbi HFE modulates transferrin receptor 2 levels in hepatoma cells via interactions that differ from transferrin receptor 1-HFE interactions
    Juxing Chen
    Department of Cell and Developmental Biology, Oregon Health and Science University, Portland, Oregon 97239, USA
    J Biol Chem 282:36862-70. 2007
    Mutations in the transmembrane glycoproteins transferrin receptor 2 (TfR2) and HFE are associated with hereditary hemochromatosis...
  86. ncbi Hemochromatosis gene (HFE) mutations in patients with type 2 diabetes and their control group in an Iranian population
    Faranak Sharifi
    Department of Endocrinology, Vali e Asr Hospital, Zanjan Metabolic Diseases Research Center, Zanjan, Iran
    Saudi Med J 29:808-12. 2008
    To assess the frequency of 2 different forms of hemochromatosis HFE gene mutations (C282Y and H63D mutations) in a normal population in comparison with type 2 diabetic patients.
  87. doi Frequencies of the haemochromatosis gene (HFE) variants C282Y, H63D and S65C in 6,020 ethnic Danish men
    Palle Pedersen
    Department of Clinical Biochemistry, Naestved Hospital, Ringstedgade 61, 4700 Naestved, Denmark
    Ann Hematol 87:735-40. 2008
    The objective was to assess the frequencies of haemochromatosis (HFE) gene mutations or variants C282Y, H63D and S65C in ethnic Danes. This is a prospective epidemiologic population study...
  88. pmc HFE C282Y homozygotes have reduced low-density lipoprotein cholesterol: the Atherosclerosis Risk in Communities (ARIC) Study
    James S Pankow
    Division of Epidemiology and Community Health, University of Minnesota, Minneapolis, Minn 55454, USA
    Transl Res 152:3-10. 2008
    Recent studies have raised questions about the long-term health risks for individuals with mutations in the HFE gene, although previous studies may have been plagued by selection bias or lack of population-based comparison groups...
  89. doi HFE gene mutations, serum ferritin level, transferrin saturation, and their clinical correlates in a Korean population
    Sang Hyub Lee
    Department of Internal Medicine, Seoul National University College of Medicine, Seoul National University Bundang Hospital, 300 Gumi dong, Bundang gu, Seongnam si, Gyeonggi Do, 463 707, South Korea
    Dig Dis Sci 54:879-86. 2009
    The aim of this study was to investigate HFE gene mutations, blood iron indices, and their clinical correlates in a Korean population...
  90. doi Genetic screening for HFE hemochromatosis in 6,020 Danish men: penetrance of C282Y, H63D, and S65C variants
    Palle Pedersen
    Department of Clinical Biochemistry, Naestved Hospital, Naestved, Denmark
    Ann Hematol 88:775-84. 2009
    The aim of this epidemiologic population survey was to assess the penetrance of the most frequent hemochromatosis (HFE) gene variants in ethnic Danish men...
  91. doi Extrinsic factors modifying expressivity of the HFE variant C282Y, H63D, S65C phenotypes in 1,294 Danish men
    Palle Pedersen
    Department of Clinical Biochemistry, Naestved Hospital, University of Copenhagen, DK 4700, Naestved, Denmark
    Ann Hematol 88:957-65. 2009
    This study analysed the influence of extrinsic factors on the phenotypic expression of HFE gene variants in ethnic Danish men. A cohort of 6,020 men aged 30-53 years was screened for HFE C282Y, H63D and S65C variants...
  92. pmc HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity
    Lyle C Gurrin
    Centre for MEGA Epidemiology, School Population Health, University of Melbourne, Victoria, Australia
    Hepatology 50:94-101. 2009
    The risk of hemochromatosis-related morbidity is unknown among HFE compound heterozygotes (C282Y/H63D)...
  93. pmc Common variants in TMPRSS6 are associated with iron status and erythrocyte volume
    Beben Benyamin
    Queensland Institute of Medical Research, Brisbane, Queensland, Australia
    Nat Genet 41:1173-5. 2009
    ..1 x 10(-10)). We also find suggestive evidence of association with blood hemoglobin levels (combined P = 5.3 x 10(-7)). These findings demonstrate the involvement of TMPRSS6 in control of iron homeostasis and in normal erythropoiesis...
  94. doi Mutations in the HFE gene and cardiovascular disease risk: an individual patient data meta-analysis of 53 880 subjects
    Daphne L van der A
    Center for Nutrition and Health, Postbak 84, National Institute for Public Health and the Environment, PO Box 1, 3720 BA Bilthoven, The Netherlands
    Circ Cardiovasc Genet 1:43-50. 2008
    Whether mutations in the hemochromatosis (HFE) gene increase cardiovascular disease risk is still undetermined. The main reason is the low frequency of the mutations, in particular of the compound C282Y/H63D genotype...
  95. pmc HFE C282Y homozygotes are at increased risk of breast and colorectal cancer
    Nicholas J Osborne
    Gut and Liver, Murdoch Childrens Research Institute, Melbourne, Vic, Australia
    Hepatology 51:1311-8. 2010
    The evidence that mutations in the HFE gene for hemochromatosis are associated with increased cancer risk is inconsistent. The Melbourne Collaborative Cohort Study is a prospective cohort study that commenced recruitment in 1990...
  96. pmc Effects of C282Y, H63D, and S65C HFE gene mutations, diet, and life-style factors on iron status in a general Mediterranean population from Tarragona, Spain
    Nuria Aranda
    IISPV, Universitat Rovira i Virgili, Tarragona, Spain
    Ann Hematol 89:767-73. 2010
    Mutations in the HFE gene result in iron overload and can produce hereditary hemochromatosis (HH), a disorder of iron metabolism characterized by increased intestinal iron absorption...
  97. doi Hereditary hemochromatosis is characterized by a clinically definable arthropathy that correlates with iron load
    G J Carroll
    University of Notre Dame Australia, Fremantle Campus, and Fremantle Hospital, Fremantle, Western Australia, Australia
    Arthritis Rheum 63:286-94. 2011
    ..To determine the frequency and character of arthropathy in hereditary hemochromatosis (HH) and to investigate the relationship between this arthropathy, nodal interphalangeal osteoarthritis, and iron load...
  98. ncbi A candidate gene for hemochromatosis: frequency of the C282Y and H63D mutations
    A M Jouanolle
    Service de Génétique Moléculaire et Hormonologie, CHU Pontchaillou, Rennes, France
    Hum Genet 100:544-7. 1997
    The gene whose alteration causes hereditary hemochromatosis (HFE according to the international nomenclature) was, more than 20 years ago, shown to map to 6p21.3...
  99. pmc Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells
    A Waheed
    Edward A Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, St Louis, MO 63104, USA
    Proc Natl Acad Sci U S A 94:12384-9. 1997
    ..A candidate gene for HH called HFE has recently been cloned that encodes a novel member of the major histocompatibility complex class I family...
  100. ncbi HFE gene and hereditary hemochromatosis: a HuGE review. Human Genome Epidemiology
    E H Hanson
    United States Air Force School of Aerospace Medicine, Brooks Air Force Base, San Antonio, TX, USA
    Am J Epidemiol 154:193-206. 2001
    ..Without treatment, death may occur from cirrhosis, primary liver cancer, diabetes, or cardiomyopathy. In 1996, HFE, the gene for HHC, was mapped on the short arm of chromosome 6 (6p21.3)...
  101. ncbi Mutations in the HFE gene and their interaction with exogenous risk factors in hepatocellular carcinoma
    S Fargion
    Dipartimento di Medicina Interna, Universita di Milano, Ospedale Maggiore IRCCS, Milan, Italy
    Blood Cells Mol Dis 27:505-11. 2001
    ..this study were to define the prevalence of the mutations 845G --> A and 187C --> G (C282Y and H63D) in the HFE gene associated with hereditary hemochromatosis in Italian patients with hepatocellular carcinoma occurring in ..

Research Grants65

  1. Genetic modifiers of hemochromatosis phenotype
    Dorota Gertig; Fiscal Year: 2006
    ..HH) is a common disorder of iron overload and over 80% of patients are homozygous for the C282Y mutation in the HFE gene...
  2. HFE/Transferrin Receptor/Transferrin Interactions
    PAMELA BJORKMAN; Fiscal Year: 2006
    ..TfR is a membrane-bound homodimer that binds two ligands: iron loaded transferrin (Fe-Tf) and HFE, the protein mutated in the iron overload disease hereditary. hemochromatosis...
  3. Jodie L Babitt; Fiscal Year: 2016
    ..hereditary hemochromatosis due to mutations in the genes encoding hepcidin itself, the hemochromatosis protein HFE, transferrin receptor 2, and hemojuvelin (HJV)...
  4. Retinal Iron Homeostasis in Health and Disease
    Vadivel Ganapathy; Fiscal Year: 2013
    ..Mutations in HFE [Histocompatability leukocyte antigen class I-like protein involved in iron (FE) homeostasis], a gene coding for a ..
  5. Metalloreductases in Medicine
    Mark D Fleming; Fiscal Year: 2010
    ..collectively known as hereditary hemochromatosis are similarly common;the prevalence of a single mutant allele, HFE<C282Y>, that confers a risk for iron overload is as much as 10% in individuals of Northern European descent...
  6. CAROLINE ENNS; Fiscal Year: 2016
    ..Approximately 85% of the cases result from a single base-pair mutation, which converts Cys to Tyr in the HFE protein...
  7. DERMATOREMEDIATION OF IRON OVERLOAD
    Leonard M Milstone; Fiscal Year: 2010
    ..AIM I. tests the feasibility of this approach by experiments designed to reduce the systemic iron burden in the Hfe null mouse model of heriditary hemochromatosis. A...
  8. CAROLINE ENNS; Fiscal Year: 2016
    ..Tfr2 forms a complex with HFE, another protein involved in iron homeostasis...
  9. Ferristatin: A New Small Molecule Inhibitor of Iron Transport
    Marianne Wessling Resnick; Fiscal Year: 2010
    ..S., 1 in 20 Caucasians carry genetic variants of HFE alleles that promote susceptibility to iron overload...
  10. Genetic Modifiers of Iron Status in Hemochromatosis HFE C282Y Homozygotes
    Gordon D McLaren; Fiscal Year: 2011
    ..Most patients with hemochromatosis are homozygous for the C282Y mutation in the HFE gene...
  11. Hemochromatosis - Epidemiology and Molecular Mechanisms
    Pauline L Lee; Fiscal Year: 2010
    ..Hemochromatosis caused by genetic mutations in HFE, TfR2 and HJV is due primarily to dysregulation of hepcidin transcription...
  12. Donald A McClain; Fiscal Year: 2016
    ..The mouse model of HH (Hfe-/-) is characterized by decreased insulin secretion associated with oxidative stress and mitochondrial dysfunction ..
  13. Stefano Rivella; Fiscal Year: 2014
    ..after weaning prevent the development of iron overload in mouse models of severe (hepcidin knockout) or moderate (HFE knockout) hereditary hemochromatosis? b...
  14. Jonghan Kim; Fiscal Year: 2014
    ..hypothesis of this research proposal is that absorption of ingested and inhaled metals is up-regulated upon HFE-deficiency such that patients with mutations in HFE (C282Y;H62D) are more vulnerable to neurotoxicity induced by ..
  15. Host iron availability in the pathogenesis of enteropathogenic Yersinia
    VICTORIA AUERBUCH STONE; Fiscal Year: 2013
    ..One hereditary hemochromatosis-associated mutation in the High Iron Fe gene (Hfe-C282Y) is found in 10% of people of Northern European descent...
  16. Identification of Novel Genes That Modulate Systemic Iron Homeostasis
    KARIN ELISABETH FINBERG; Fiscal Year: 2013
    ..1) Determine whether loss of Tmprss6 function modifies iron loading in murine models of juvenile hemochromatosis, HFE-hemochromatosis, and ?-thalassemia intermedia;and 2) Identify novel genes that, when mutated, modulate iron ..
  17. Yatrik M Shah; Fiscal Year: 2016
    ..This will be examined in intestinal-derived cell lines and Hfe-/-, Hbbth3/+, and Hbbth3/th3 models of hereditary hemochromatosis, beta-thalassemia intermedia, and Cooley's ..
  18. BMP Signaling and Iron Metabolism
    Jodie L Babitt; Fiscal Year: 2010
    ..interaction between this pathway and other known modulators of hepcidin expression such as inflammatory mediators, HFE, TfR2, iron overload, and anemia;2) Determine the effects of BMP-2 signaling via HJV in vivo on hepcidin expression,..
  19. Patient Oriented Research & Mentoring in liver diseases
    Kris Kowdley; Fiscal Year: 2010
    ..Nonalcoholic fatty liver disease has become an increasingly prominent liver disease;iron overload and HFE mutations are also being recognized as contributing factors to hepatitis C, end-stage liver disease and ..
  20. Beta 2-Microglobulin signaling and targeting in bone metastasis
    Leland W K Chung; Fiscal Year: 2013
    ..The hypothesis of this proposal is that anti-b2-M mAb interferes with HFE (a hereditary hemochromatosis associated gene)-TFRC (Transferrin Receptor)-TF (Transferrin) complex and iron ..
  21. Iron Acquisition by Mycobacterium tuberculosis Within Phagocytes
    Bradley E Britigan; Fiscal Year: 2013
    ..g. ferroportin, HFE, HO-1, hepcidin) on M.tb Fe acquisition and growth. 3...
  22. Study of the HFE Transferrin Receptor interaction in mammalian iron homeostasis
    Paul Schmidt; Fiscal Year: 2010
    The objective of this study is to elucidate the role of the hereditary hemochromatosis gene (HFE) - Transferrin receptor (TFR1) interaction in vivo...
  23. Serum Biomarkers Associated With Phenotypic Expression of Hemochromatosis.
    Kris Kowdley; Fiscal Year: 2013
    ..Nearly all cases of hemochromatosis are due to a homozygous missense mutation in the HFE gene that changes amino acid residue 282 from a cysteine to a tyrosine (C282Y)...
  24. BOBBY JOSEPH CHERAYIL; Fiscal Year: 2016
    ..Our preliminary studies with Hfe knock-out (KO) mice, a model of human type I hemochromatosis (HH), have revealed that the abnormal iron metabolism ..
  25. HFE: A Genetic Determinant of Olfactory Mn Absorption and Toxicity
    Marianne Wessling Resnick; Fiscal Year: 2010
    Genetic variants of the HFE gene are the leading cause of adult onset hereditary hemochromatosis (HH), the most common Mendelian genetic disease in the North American Caucasian population...
  26. HEMOCHROMATOSIS--MECHANISMS AND NOVEL THERAPIES
    Lawrie Powell; Fiscal Year: 2004
    ..Recent exciting discoveries including the hemochromatosis gene HFE and the metal transporters DMT1, hephaestin and SFT have provided the opportunity to study the steps in the pathway ..
  27. Complications of elevated transferrin-iron saturation
    Kris Kowdley; Fiscal Year: 2004
    Hereditary hemochromatosis is caused by mutations in the hemochromatosis (HFE) gene and is one of the most common inherited single gene disorders among Caucasians, affecting approximately 1 in 300 individuals...
  28. SFT FUNCTION AND REGULATION IN HEMOCHROMATOSIS
    Marianne Wessling Resnick; Fiscal Year: 2003
    ..and intestinal enterocytes; 2) examination of interactions of interactions with the hemochromatosis protein Hfe that may modulate SFT expression and function in these cells; and 3) characterization of the mechanism that ..
  29. HEREDITARY HEMOCHROMATOSIS
    JAMES KUSHNER; Fiscal Year: 2001
    ..is a disease of iron export dysregulation linked in most cases to the recently cloned hemochromatosis gene (HFE)...
  30. GENE DEFECTIVE IN HEREDITARY HEMOCHROMATOSIS
    William Sly; Fiscal Year: 2002
    ..These studies will not only improve our understanding of how iron absorption is normally regulated, but may also suggest new strategies for treating disorders of excessive iron absorption. ..
  31. IRON STATUS AND RISK OF CHD AND COLON CANCER
    Jing Ma; Fiscal Year: 2002
    ....
  32. Genetic Analysis of Iron Homeostasis in Zebrafish
    Paula Fraenkel; Fiscal Year: 2006
    ..Although the C282Y mutation in the HFE gene is commonly found in the Caucasian population, the penetrance of hereditary hemochromatosis is quite variable (..
  33. MECHANISMS OF INTESTINAL IRON ABSORPTION
    Matthias Hediger; Fiscal Year: 2004
    ..enterocytes; that the sensing mechanism for serum iron is disrupted in hereditary hemochromatosis patients with the HFE C282Y mutation and in certain children with iron-deficiency anemia leading to excessive (hemochromatosis) or ..
  34. Hemochromatosis Modifier Genes
    JAMES KUSHNER; Fiscal Year: 2006
    Homozygosity for a single mutation (HFE C282Y) is responsible for the vast majority of cases of hemochromatosis, yet phenotypic expression in homozygotes varies widely...
  35. Stefano Rivella; Fiscal Year: 2015
    ..Recently HFE and transferrin receptor 2 (TfR2), molecules known to participate in the hepatic regulation of hepcidin, have been ..
  36. The role of hemojuvelin in the regulation of iron metabolism
    Tomas Ganz; Fiscal Year: 2007
    ..We reason that the hemochromatosis genes HFE, transferrin receptor 2 and hemojuvelin, whose homozygous disruption causes partial or complete deficiency of ..
  37. NHLBI Research Center at Howard University
    Robert E Taylor; Fiscal Year: 2012
    ..in a variety of diseases that disproportionately affect minority populations, including severe malarial anemia, non-HFE iron overload, the influence of underlying hematologic conditions on HIV disease, and the pulmonary complications ..
  38. Metal Exposure and Children?s Preschool Neurodevelopment
    David C Bellinger; Fiscal Year: 2012
    ..on genetic variations in 4 pathways chosen to reflect metal metabolism or synaptic plasticity: iron metabolism (HFE, transferrin, DMT-1), cholesterol metabolism (apolipoprotein E), neurotransmitter metabolism (dopamine transporter, ..
  39. DIABETES IN HEMOCHROMATOSIS: PREVALENCE AND MECHANISMS
    Donald McClain; Fiscal Year: 2007
    ..We have studied a mouse model of HH (Hfe-/-) that exhibits decreased insulin secretion associated with oxidative stress, desensitization of glucose-..
  40. Marianne Wessling-Resnick; Fiscal Year: 2016
    ..Our in vivo studies of Hfe-/- mice strongly support this idea...
  41. Fluorescence-based screen to probe hepcidin-ferroportin interactions
    Marianne Wessling Resnick; Fiscal Year: 2006
    ..This disease is associated with mutations in genes encoding HFE, hepcidin, hemojuvelin, transferrin receptor-2 or FPN...
  42. BIOLOGICAL ROLES OF IRON IN HUMAN NUTRITION
    ZENA HARRIS; Fiscal Year: 2004
    ..and hephaestin (SLA)) and in iron efflux proteins (ceruloplasmin and hereditary hemochromatosis gene (HFE) product)...
  43. Metalloreductases in Medicine
    Mark Fleming; Fiscal Year: 2007
    ..collectively known as hereditary hemochromatosis are similarly common; the prevalence of a single mutant allele, HFE<C282Y>, that confers a risk for iron overload is as much as 10% in individuals of Northern European descent...
  44. Growth and Cardiometabolic Risk Among In Utero Drug Exposed Children
    SARAH ELIZABETH MESSIAH; Fiscal Year: 2013
    ..of Miami Miller School of Medicine, designed to provide knowledge, skills, and experience in 4 core competencies (hfe course of disease, with particular emphasis on in utero cocaine exposure, longitudinal/latent growth analytical ..
  45. A human factors intervention to reduce risk in primary care of The elderly
    Ben Tzion Karsh; Fiscal Year: 2010
    ..In human factors engineering (HFE) this situation has been studied, and evidence shows it contributes to two unwanted outcomes: poor situation ..
  46. GLOBIN SWITCHING AND ERYTHROID DIFFERENTIATION
    Thalia Papayannopoulou; Fiscal Year: 2002
    ..The main tool consists of hybrids produced by fusing human fetal erythroid cells with mouse erythroleukemia cells (HFE x MEL hybrids)...
  47. Patient Safety and the Primary Care Testing Process
    Nancy Elder; Fiscal Year: 2009
    ..to medical error reduction that are grounded in clinical reality and informed by a human factors engineering (HFE) theoretical perspective...
  48. Epidemiology of hepatocellular carcinoma
    Cynthia Ko; Fiscal Year: 2006
    ..A gene for hemochromatosis, HFE, has recently been identified...
  49. BIOIRON RESEARCH CONFERENCES 2001-2005
    Gary Brittenham; Fiscal Year: 2003
    ..of iron metabolism, iron transport, iron in the pathophysiology of disease, the function and pathobiology of HFE, the gene that is mutated in most patients with hereditary hemochromatosis, the structure of HFE and of the ..
  50. Iron Signaling/Monocytes/Alcoholic Hepatitis Patients
    Hidekazu Tsukamoto; Fiscal Year: 2005
    ..determine the expression of Nrampl, DMT1 (divalent metal transporter), ferroportin, TfR1 (transferrin receptor 1), HFE (a hemochromatosis gene product), ferritin H and L chains to correlate them with observed changes in iron content ..
  51. BELGRADE RAT: A MUTATION IN A CRITICAL METAL TRANSPORTER
    LAURA GARRICK; Fiscal Year: 2005
    ..These aims will also be evaluated relative to systemic iron status, and in other mutants affecting the HFE gene and beta2-microglobulin, a protein complex recently shown to play a regulatory role in iron uptake...
  52. FORMATION AND SURVIVAL OF RED BLOOD CELLS
    Ernest Beutler; Fiscal Year: 2001
    ..Should these point mutations fail to alter gene transcription, a search will be made for other potential mutations in linkage disequilibrium with the known -5,-8 and -24 polymorphisms, by sequencing upstream through the promotor. ..
  53. A Mouse Model of Gaucher Disease
    Ernest Beutler; Fiscal Year: 2005
    ..In particular, electron microscopy and light microscopy will be used to attempt to demonstrate the development of Gaucher cells in the chimeric mice. ..
  54. Activities of Daily Living Enhancement Performance Tool
    Thomas Malone; Fiscal Year: 2003
    ..underlying philosophy for ADEPT development is to apply the principles and methods of human factors engineering (HFE) to the improvement of care for patients with dementia...
  55. GENE-METAL INTERACTIONS AND PARKINSON'S DISEASE
    Howard Hu; Fiscal Year: 2006
    ..the effect of bone lead will be highest in individuals with at least one copy of the C282Y or H63d hemochromatosis (HFE) gene mutation...
  56. BIOIRON RESEARCH CONFERENCE 2005
    Jerry Kaplan; Fiscal Year: 2005
    ..and regulation of iron transport and storage, analysis of genes that lead to iron overload disease including both HFE and non-HFE hereditary hemochromatosis...
  57. Genetic Mechanisms of Anthracycline Cardiotoxicity in Pediatric Cancer Survivors
    Steven Lipshultz; Fiscal Year: 2009
    ..Mutations of the genes know to cause hemochromatosis (HFE mutations) may also lead to susceptibility to toxicity...
  58. MOLECULAR MECHANISMS OF INTESTINAL IRON TRANSPORT
    Jonathan Glass; Fiscal Year: 2005
    ..Recently, proteins have been described that are involved in the regulation of iron uptake. These proteins include HFE, which when harboring a C282Y mutation causes hemochromatosis, a disease characterized by increased iron absorption...
  59. Iron Status: A Pathway Analysis in Multiple Ethnicities
    Christine McLaren; Fiscal Year: 2009
    ..101,168 participants who were screened with serum biochemical tests of iron status and for common mutations of the HFE gene, approximately 50% of participants were of African, Asian, Hispanic, Native American, or Pacific Island ..
  60. LEAD-GENE INTERACTIONS AND CONGNITION
    Marc Weisskopf; Fiscal Year: 2007
    ..In this application we discuss how four candidate genes -- APOE, the HFE (hemochromatosis) gene, transferrin, and Tau protein -- may interact with lead burden to increase the risk for ..
  61. IRON TRANSPORT IN A MURINE MODEL OF HEMOCHROMATOSIS
    Robert Fleming; Fiscal Year: 2004
    ..HH is caused by mutation of HFE, a MHC class I-like protein found in stable association with Beta-2-microglobulin and transferrin receptor in ..
  62. EVALUATING USE OF GENETIC INFORMATION: A MODEL PROCESS
    Wylie Burke; Fiscal Year: 2003
    ..5. To conduct an evaluation of the model process within a large health care system. ..
  63. Role of Transferrin Receptor 2 in Iron Homeostasis
    Robert Fleming; Fiscal Year: 2007
    ..This knowledge will increase our understanding of iron homeostasis, and may suggest new approaches to the management of diseases of iron overload and maldistribution. ..
  64. Screening Digestive Diseases with Microcantilever Arrays
    MICHAEL KRIGER; Fiscal Year: 2001
    ..arrays by studying the G-to-A transition associated with the disease-causing Cys282Tyr mutation on the HFE gene...