Hfe

Summary

Gene Symbol: Hfe
Description: hemochromatosis
Alias: hereditary hemochromatosis protein homolog, RT1-CAFE
Species: rat

Top Publications

  1. pmc Impact of hemochromatosis gene mutations on cardiac status in doxorubicin-treated survivors of childhood high-risk leukemia
    Steven E Lipshultz
    Department of Pediatrics, University of Miami Miller School of Medicine, Miami, Florida Sylvester Comprehensive Cancer Center, University of Miami Miller School of Medicine, Miami, Florida
    Cancer 119:3555-62. 2013
  2. 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
  3. ncbi The HFE gene is associated to an earlier age of onset and to the presence of diabetic nephropathy in diabetes mellitus type 2
    Rafael Oliva
    Grup de Genètica Molecular, Hospital Clinic, Faculty of Medicine, University of Barcelona, Institut d Investigacions Biomediques August Pi i Sunyer IDIBAPS, Barcelona, Spain
    Endocrine 24:111-4. 2004
  4. ncbi [Mutations in the HFE gene in patients with rheumatic diseases]
    I Putova
    Centrum biomedicínských oborů oddelení bunecné a molekulární biologie 3 LF UK, Praha
    Cas Lek Cesk 144:391-7; discussion 397-8. 2005
  5. ncbi Frequency of HFE gene mutations in Iranian beta-thalassaemia minor patients
    Maryam Jazayeri
    Research Centre for Gastroenterology and Liver Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran
    Eur J Haematol 71:408-11. 2003
  6. ncbi Increased hepatic iron concentration in nonalcoholic steatohepatitis is associated with increased fibrosis
    D K George
    Clinical Sciences Unit, Queensland Institute of Medical Research, Brisbane, Australia
    Gastroenterology 114:311-8. 1998
  7. ncbi The hemochromatosis C282Y allele: a risk factor for hepatic veno-occlusive disease after hematopoietic stem cell transplantation
    A R Kallianpur
    Division of General Internal Medicine and Public Health, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37212, USA
    Bone Marrow Transplant 35:1155-64. 2005
  8. ncbi Investigation of genetic variants of genes of the hemochromatosis pathway and their role in breast cancer
    Benny K Abraham
    Dr Margarete Fischer Bosch Institute of Clinical Pharmacology, Auerbachstrasse 112, D 70376 Stuttgart, Germany
    Cancer Epidemiol Biomarkers Prev 14:1102-7. 2005
  9. ncbi Frequency of hemochromatosis gene (HFE) mutations in Russian healthy women and patients with estrogen-dependent cancers
    Tatiana V Kondrashova
    Medical Radiological Research Center, Russian Academy of Medical Sciences, Ul Koroleva 4, Obninsk 249036, Russia
    Biochim Biophys Acta 1762:59-65. 2006
  10. ncbi The overlapping of local iron overload and HFE mutation in venous leg ulcer pathogenesis
    Paolo Zamboni
    Vascular Diseases Center, University of Ferrara, 44100 Ferrara, Italy
    Free Radic Biol Med 40:1869-73. 2006

Research Grants

Scientific Experts

  • Maikel L Colli
  • Tatiana V Kondrashova
  • James C Barton
  • B J Cribier
  • Paolo Zamboni
  • Asha R Kallianpur
  • R Oliva
  • Annelie Mollbrink
  • N G Mahon
  • Carlos Wolff
  • K J H Robson
  • Hajnalka Andrikovics
  • Assunta Viola
  • M A Melis
  • C Mura
  • Elisabetta Bugianesi
  • G Marchesini
  • Shigang Xiong
  • Steven E Lipshultz
  • An Sheng Zhang
  • Naila Naz
  • Charronne F Davis
  • Paola Dongiovanni
  • Jaya P Gnana-Prakasam
  • Zachary P Nearman
  • Caroline A Enns
  • T M Oliveira
  • Hidekazu Tsukamoto
  • A R West
  • Leanne M Yunker
  • Benny K Abraham
  • I Putova
  • K N Millard
  • Herwig Köppel
  • Giuseppina Candore
  • Judit Varkonyi
  • Petra Holmström
  • R Surber
  • Maryam Jazayeri
  • A Lebeau
  • Kristen E Stevenson
  • Kara M Kelly
  • Luis A Clavell
  • Jeffery L Kutok
  • Lewis B Silverman
  • Bruno Michon
  • Caroline Laverdiere
  • Tracie L Miller
  • Jacqueline M Henkel
  • Barbara L Asselin
  • Stuart R Lipsitz
  • Vivian I Franco
  • Donna S Neuberg
  • Uma H Athale
  • Steven D Colan
  • Eric Larsen
  • Mark D Fleming
  • Stephen E Sallan
  • Frank Schultze
  • Ihtzaz A Malik
  • Martina Blaschke
  • Sajjad Khan
  • Nadeem Sheikh
  • A C Pereira
  • Shakil Ahmad
  • Giuliano Ramadori
  • J D Phillips
  • J N Feder
  • Gaetano Cairo
  • Stefano Gatti
  • Raffaela Rametta
  • D Dubois-Laforgue
  • Anna Ludovica Fracanzani
  • Luca Valenti
  • Chiara Paola Megazzini
  • Silvia Fargion
  • M Tevfik Dorak
  • W M Tsui
  • Muthusamy Thangaraju
  • Kebin Liu
  • Sylvia B Smith
  • Vadivel Ganapathy
  • Pamela M Martin
  • Yonju Ha
  • C N Roy
  • Jiaohong Wang
  • L E Beckman
  • T P Tuomainen
  • Victor R Gordeuk
  • Hongyun She

Detail Information

Publications52

  1. pmc Impact of hemochromatosis gene mutations on cardiac status in doxorubicin-treated survivors of childhood high-risk leukemia
    Steven E Lipshultz
    Department of Pediatrics, University of Miami Miller School of Medicine, Miami, Florida Sylvester Comprehensive Cancer Center, University of Miami Miller School of Medicine, Miami, Florida
    Cancer 119:3555-62. 2013
    ..The authors determined the frequency of hemochromatosis (HFE) gene mutations associated with hereditary hemochromatosis and their relationship with doxorubicin-associated ..
  2. 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...
  3. ncbi The HFE gene is associated to an earlier age of onset and to the presence of diabetic nephropathy in diabetes mellitus type 2
    Rafael Oliva
    Grup de Genètica Molecular, Hospital Clinic, Faculty of Medicine, University of Barcelona, Institut d Investigacions Biomediques August Pi i Sunyer IDIBAPS, Barcelona, Spain
    Endocrine 24:111-4. 2004
    We initiated the present work to determine whether the presence of the HFE C282Y or H63D mutations could be related to the clinical expression of diabetes mellitus type 2...
  4. ncbi [Mutations in the HFE gene in patients with rheumatic diseases]
    I Putova
    Centrum biomedicínských oborů oddelení bunecné a molekulární biologie 3 LF UK, Praha
    Cas Lek Cesk 144:391-7; discussion 397-8. 2005
    ..Aim of the study. 1. To establish frequency of C282Y and H63D mutations in the HFE gene (the hemochromatosis gene) in general population of the Czech Republic and in patients with hemochromatosis. 2...
  5. ncbi Frequency of HFE gene mutations in Iranian beta-thalassaemia minor patients
    Maryam Jazayeri
    Research Centre for Gastroenterology and Liver Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran
    Eur J Haematol 71:408-11. 2003
    ..When it is inherited together with a mutation in the HFE (HLA-H) gene associated with hereditary haemochromatosis, iron overload may ensue...
  6. ncbi Increased hepatic iron concentration in nonalcoholic steatohepatitis is associated with increased fibrosis
    D K George
    Clinical Sciences Unit, Queensland Institute of Medical Research, Brisbane, Australia
    Gastroenterology 114:311-8. 1998
    ..The aim of this study was to investigate the role of the hemochromatosis mutation Cys282Tyr in development of the mild hepatic iron overload found in some patients with NASH and its association with hepatic damage in these patients...
  7. ncbi The hemochromatosis C282Y allele: a risk factor for hepatic veno-occlusive disease after hematopoietic stem cell transplantation
    A R Kallianpur
    Division of General Internal Medicine and Public Health, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37212, USA
    Bone Marrow Transplant 35:1155-64. 2005
    ..Since the liver is a major site of iron deposition in HFE-associated hemochromatosis, and iron has oxidative toxicity, we hypothesized that HFE genotype might influence the ..
  8. ncbi Investigation of genetic variants of genes of the hemochromatosis pathway and their role in breast cancer
    Benny K Abraham
    Dr Margarete Fischer Bosch Institute of Clinical Pharmacology, Auerbachstrasse 112, D 70376 Stuttgart, Germany
    Cancer Epidemiol Biomarkers Prev 14:1102-7. 2005
    ..hemochromatosis and transferrin receptor system mutations in breast cancer, we analyzed 19 sequence variations at HFE, TFR1, TFR2, and FPN1 and compared genotype frequencies between cases and controls in a German population...
  9. ncbi Frequency of hemochromatosis gene (HFE) mutations in Russian healthy women and patients with estrogen-dependent cancers
    Tatiana V Kondrashova
    Medical Radiological Research Center, Russian Academy of Medical Sciences, Ul Koroleva 4, Obninsk 249036, Russia
    Biochim Biophys Acta 1762:59-65. 2006
    Possible association between the C282Y and H63D mutations in the HFE gene and estrogen-dependent cancer risk was assessed. Genotyping was performed using PCR amplification followed by digestion of products with specific restrictases...
  10. ncbi The overlapping of local iron overload and HFE mutation in venous leg ulcer pathogenesis
    Paolo Zamboni
    Vascular Diseases Center, University of Ferrara, 44100 Ferrara, Italy
    Free Radic Biol Med 40:1869-73. 2006
    ..differences could be genetically determined and investigated the role of the C282Y and H63D mutations of the HFE gene. C282Y mutation significantly increases the risk of ulcer in primary CVD more than six times (OR = 6.69; 1...
  11. ncbi HFE gene mutations in patients with acute leukemia
    Assunta Viola
    Divison of Hematology and Stem Cell Transplantion Unit, Cardarelli Hospital, Naples, Italy
    Leuk Lymphoma 47:2331-4. 2006
    An increased incidence of HFE gene mutations has been described in hematologic malignancies...
  12. ncbi [Mutations of hemochromatosis gene in volunteer blood donors and Chilean porphyria cutanea tarda patients]
    Carlos F Wolff
    Departamento de Medicina Occidente, Universidad de Chile, Hospital San Juan de Dios, Santiago, Chile
    Medicina (B Aires) 66:421-6. 2006
    ..The H63D and C282Y mutations of the HFE gene frequency were studied in a PCT group of patients and compared with the frequency observed in a group of ..
  13. ncbi HFE gene mutations in Brazilian thalassemic patients
    T M Oliveira
    Departamento de Biologia, Instituto de Biociencias, Letras e Ciencias Exatas, Universidade do Estado de Sao Paulo, 15054 000 Sao Jose do Rio Preto, SP, Brazil
    Braz J Med Biol Res 39:1575-80. 2006
    ..iron metabolism characterized by increased iron intake and progressive storage and is related to mutations in the HFE gene. Interactions between thalassemia and hemochromatosis may further increase iron overload...
  14. ncbi Hemochromatosis-associated gene mutations in patients with myelodysplastic syndromes with refractory anemia with ringed sideroblasts
    Zachary P Nearman
    Experimental Hematology and Hematopoiesis Section, Taussig Cancer Center, Cleveland, Ohio, USA
    Am J Hematol 82:1076-9. 2007
    ..were genotyped using restriction fragment length polymorphism, designed to detect C282Y and H63D mutations of the HFE gene...
  15. pmc Hepatic macrophage iron aggravates experimental alcoholic steatohepatitis
    Shigang Xiong
    Department of Pathology, Keck School of Medicine, University of Southern California, 1333 San Pablo St, MMR 402, Los Angeles, CA 90033 9141, USA
    Am J Physiol Gastrointest Liver Physiol 295:G512-21. 2008
    ..alcohol feeding in rats results in increased expression of transferrin (Tf) receptor-1 and hemochromatosis gene (HFE), enhanced iron uptake, an increase in nonheme iron content, and accentuated ILI response for NF-kappaB activation ..
  16. doi Porphyria cutanea tarda, hepatitis C, uroporphyrinogen decarboxylase and mutations of HFE gene. A case-control study
    Bernard Cribier
    Clinique Dermatologique, Universite Louis Pasteur, Faculte de Medecine, Hopitaux Universitaires de Strasbourg, Strasbourg, France
    Dermatology 218:15-21. 2009
    Hemochromatosis gene (HFE) mutations and the hepatitis C virus (HCV) are known risk factors for porphyria cutanea tarda (PCT), but interactions with erythrocytic uroporphyrinogen decarboxylase (UROD) have seldom been addressed.
  17. doi HFE C282Y mutation as a genetic modifier influencing disease susceptibility for chronic myeloproliferative disease
    Hajnalka Andrikovics
    National Blood Transfusion Service, Department of Hematology and Stem Cell Transplantation, St Istvan and St Laszlo Hospital of Budapest, and 3rd Department of Internal Medicine, Semmelweis University, Budapest, Hungary
    Cancer Epidemiol Biomarkers Prev 18:929-34. 2009
    ..and several studies assessed the potential role of genetic variants of proteins involved in iron metabolism (HFE C282Y, TFR S142G) in different malignancies...
  18. pmc Absence of iron-regulatory protein Hfe results in hyperproliferation of retinal pigment epithelium: role of cystine/glutamate exchanger
    Jaya P Gnana-Prakasam
    Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta, GA 30912, USA
    Biochem J 424:243-52. 2009
    ..Mutations in HFE (histocompatability leucocyte antigen class I-like protein involved in iron homoeostasis) are responsible for most ..
  19. doi An extensive analysis of the hereditary hemochromatosis gene HFE and neighboring histone genes: associations with childhood leukemia
    Charronne F Davis
    Genomic Immunoepidemiology Laboratory, HUMIGEN LLC, The Institute for Genetic Immunology, 2439 Kuser Road, Hamilton, NJ, 08690 3303, USA
    Ann Hematol 89:375-84. 2010
    The most common mutation of the HFE gene C282Y has shown a risk association with childhood acute lymphoblastic leukemia (ALL) in Welsh and Scottish case-control studies. This finding has not been replicated outside Britain...
  20. pmc Iron-dependent regulation of MDM2 influences p53 activity and hepatic carcinogenesis
    Paola Dongiovanni
    Center of Metabolic and Liver Diseases, Department of Internal Medicine, University of Milano, Ospedale Policlinico Mangiagalli e Regina Elena Fondazione IRCCS, 20122 Milano, Italy
    Am J Pathol 176:1006-17. 2010
    ..activity, was associated with higher risk of hepatocarcinoma in cirrhotic patients with hemochromatosis, and with HFE mutations in patients with hepatocarcinoma without hemochromatosis, suggesting an interaction between MDM2 and iron ..
  21. doi Mutation H63D in the HFE gene confers risk for the development of type 2 diabetes mellitus but not for chronic complications
    Maikel L Colli
    Endocrine Division, Hospital de Clinicas de Porto Alegre, Federal University of Rio Grande do Sul, Porto Alegre, Brazil
    J Diabetes Complications 25:25-30. 2011
    To evaluate the frequency of mutations in the HFE gene (C282Y and H63D) in type 2 diabetes mellitus (DM) patients and their possible association with diabetic chronic complications.
  22. doi Iron-regulatory gene expression during liver regeneration
    Annelie Mollbrink
    Department of Medicine, Karolinska University Hospital Huddinge, Division of Gastroenterology and Hepatology, Stockholm, Sweden
    Scand J Gastroenterol 47:591-600. 2012
    ..The expressions of hepcidin and the iron-regulatory pathway of hepcidin gene expression during the late phase of liver regeneration are unknown...
  23. doi Ferroportin-1 is a 'nuclear'-negative acute-phase protein in rat liver: a comparison with other iron-transport proteins
    Naila Naz
    Division of Gastroenterology and Endocrinology, Department of Internal Medicine, University Hospital, Georg August University, Gottingen, Germany
    Lab Invest 92:842-56. 2012
    ..In liver, mRNA amount of Fpn-1, Fpn-1a, Fpn-1b, HFE, hemojuvelin (HJV) and hephaestin (heph) genes showed a rapid decrease...
  24. ncbi H63D mutation in the HFE gene increases iron overload in beta-thalassemia carriers
    Maria Antonietta Melis
    Dipartimento Scienze Biomediche e Biotecnologie, Sezione Clinica e Biologia dell Età Evolutiva, Universita degli Studi di Cagliari, Italy
    Haematologica 87:242-5. 2002
    Hereditary hemochromatosis (HH) is an autosomal recessive disorder of iron metabolism. The HFE gene implicated in this disorder has been identified on chromosome 6 (6p21.3)...
  25. 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...
  26. ncbi Interaction between haemochromatosis and transferrin receptor genes in different neoplastic disorders
    L E Beckman
    Department of Medical Genetics, Umea University, S 901 85 Umea, S, Sweden
    Carcinogenesis 20:1231-3. 1999
    A number of genes are involved in iron metabolism, including the transferrin receptor (TFR) and haemochromatosis (HFE) genes...
  27. ncbi Common variable immunodeficiency and IgG subclass deficiency in central Alabama hemochromatosis probands homozygous for HFE C282Y
    James C Barton
    Southern Iron Disorders Center, Birmingham, AL, USA
    Blood Cells Mol Dis 31:102-11. 2003
    Eight hemochromatosis probands with HFE C282Y homozygosity had frequent, severe, or unusual infections and common variable immunodeficiency (CVID) or immunoglobulin (Ig) G subclass deficiency (IgGSD)...
  28. ncbi Genotypic and phenotypic heterogeneity of African Americans with primary iron overload
    James C Barton
    Southern Iron Disorders Center, G 105, 20220 Brookwood Medical Center Drive, Birmingham, AL 35209, USA
    Blood Cells Mol Dis 31:310-9. 2003
    ..The percentage of index patients positive for HFE C282Y was greater than that of controls (P = 0.0058)...
  29. ncbi The C282Y mutation of the HFE gene is not found in Chinese haemochromatotic patients: multicentre retrospective study
    W M Tsui
    Department of Pathology, Caritas Medical Centre, Kowloon, Hong Kong
    Hong Kong Med J 6:153-8. 2000
    To detect two novel mutations (C282Y and H63D) of the HFE gene in Chinese patients with hepatic iron overload.
  30. ncbi Long-term sequelae of HFE deletion in C57BL/6 x 129/O1a mice, an animal model for hereditary haemochromatosis
    A Lebeau
    Pathologisches Institut, Ludwig Maximilians Universitat, Munchen, Germany, Universitat Hohenheim, Stuttgart, Germany
    Eur J Clin Invest 32:603-12. 2002
    b>HFE knockout mice (C57BL/6 x 129/Ola strain) mimic the functional aberrations of human hereditary haemochromatosis (HH) in short-term experiments. The present study investigates functional and morphological long-term changes.
  31. ncbi High incidence of hemochromatosis gene mutations in the myelodysplastic syndrome: the Budapest Study on 50 patients
    Judit Varkonyi
    3rd Department of Internal Medicine, Semmelweis University Medical School, Budapest, Hungary
    Acta Haematol 109:64-7. 2003
    ..testing of nonselected patients with the myelodysplastic syndrome (MDS) for the C282Y and H63D mutations of the HFE gene responsible for hereditary hemochromatosis revealed a significantly increased frequency of these mutations ..
  32. 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...
  33. pmc A mouse model of familial porphyria cutanea tarda
    J D Phillips
    Department of Medicine, University of Utah, School of Medicine, Salt Lake City, UT 84132, USA
    Proc Natl Acad Sci U S A 98:259-64. 2001
    ..Hemochromatosis gene (HFE) mutations are frequently found when the phenotype is expressed...
  34. ncbi Nonalcoholic fatty liver disease: a feature of the metabolic syndrome
    G Marchesini
    Unit of Metabolic Diseases, Department of Internal Medicine and Gastroenterology, University of Bologna, Italy
    Diabetes 50:1844-50. 2001
    ..Four subjects were heterozygous for mutation His63Asp of the HFE gene of familiar hemochromatosis...
  35. ncbi Expanding the natural history of nonalcoholic steatohepatitis: from cryptogenic cirrhosis to hepatocellular carcinoma
    Elisabetta Bugianesi
    Department of Gastroenterology, Ospedale S Giovanni Battista, University of Turin, Turin, Italy
    Gastroenterology 123:134-40. 2002
    ..Nonalcoholic steatohepatitis (NASH) may progress to cirrhosis; whether NASH plays also a role in the development of hepatocellular carcinoma (HCC) is unknown...
  36. 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.
  37. ncbi Clinical characteristics of type 2 diabetes in patients with mutations of HFE
    D Dubois-Laforgue
    Unité de Diabétologie Service d Immunologie Clinique, Hopital Necker, France
    Diabetes Metab 26:65-8. 2000
    Genetic hemochromatosis (GH) is associated with two mutations of the HFE gene (Cys282Tyr and His63Asp)...
  38. ncbi Increased risk of acute myocardial infarction in carriers of the hemochromatosis gene Cys282Tyr mutation : a prospective cohort study in men in eastern Finland
    T P Tuomainen
    Research Institute of Public Health, University of Kuopio, Kuopio, Finland
    Circulation 100:1274-9. 1999
    Background-Homozygosity for a relatively common Cys282Tyr mutation of the human hemochromatosis-associated (HFE) gene was recently found to account for most cases of hereditary hemochromatosis...
  39. 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...
  40. ncbi Cloning, sequencing and characterization of the rat hereditary hemochromatosis promoter: comparison of the human, mouse and rat HFE promoter regions
    M Sanchez
    Human Genome Laboratory, Faculty of Medicine, University of Barcelona, Institut de Investigacions Biomediques August Pi i Sunyer, Casanova 143, 08036, Barcelona, Spain
    Gene 225:77-87. 1998
    We have cloned and sequenced 1398bp of the rat HFE gene promoter region...
  41. ncbi Hemochromatosis gene variants in patients with cardiomyopathy
    A C Pereira
    Heart Institute InCor and Internal Medicine Department, Sao Paulo University Medical School, Sao Paulo, Brazil
    Am J Cardiol 88:388-91. 2001
    ..64, 95% confidence interval 1.71 to 25.73, after adjustment). In our sample, genetic variation in the HFE gene was associated with ischemic cardiomyopathy...
  42. ncbi The effect of iron status on vascular health
    Leanne M Yunker
    Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada
    Vasc Med 11:85-91. 2006
    ..The present study does not support the hypothesis that mild to moderately increased iron stores are associated with enhanced atherosclerosis risk...
  43. ncbi Haemochromatosis protein is expressed on the terminal web of enterocytes in proximal small intestine of the rat
    A R West
    M311, Physiology, School of Biomedical and Chemical Sciences, The University of Western Australia, Crawley, WA 6009, Western Australia
    Histochem Cell Biol 125:283-92. 2006
    The haemochromatosis protein (HFE) is an important regulator of body iron stores. In the liver, HFE is required for appropriate expression of hepcidin, a humoral mediator of iron absorption...
  44. ncbi Hemochromatosis C282Y gene mutation increases the risk of venous leg ulceration
    Paolo Zamboni
    Inter Departmental Vascular Disease Center, University of Ferrara, Italy
    J Vasc Surg 42:309-14. 2005
    ..progressing in approximately 10% of cases toward chronic venous leg ulceration, whereas the hemochromatosis gene (HFE) C282Y mutation is the most common recognized genetic defect in iron metabolism...
  45. 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
  46. ncbi Association between HFE mutations and acute myocardial infarction: a study in patients from Northern and Southern Italy
    Giuseppina Candore
    Gruppo di Studio sull Immunosenescenza, Dipartimento di Biopatologia e Metodologie Biomediche, Universita di Palermo, Palermo, Italy
    Blood Cells Mol Dis 31:57-62. 2003
    ..Some studies have shown that individuals who carried HFE mutations may be at greater risk of developing coronary heart disease than those without the mutations...
  47. ncbi Structure and liver cell expression pattern of the HFE gene in the rat
    Petra Holmström
    Division of Clinical Chemistry, Department of Laboratory Medicine, Karolinska Institute, Huddinge University Hospital C1 74, S 141 86 Stockholm, Sweden
    J Hepatol 39:308-14. 2003
    Very little is known about the HFE gene in the rat. The aim of the present study was to determine: (1) the structure of the rat HFE gene; and (2) the tissue expression of the HFE mRNA in the rat, with special emphasis on the liver.
  48. ncbi Hemochromatosis gene (HFE) polymorphisms are not associated with peripheral arterial disease
    Herwig Köppel
    Thromb Haemost 91:1258-9. 2004
  49. pmc Changes in the expression of intestinal iron transport and hepatic regulatory molecules explain the enhanced iron absorption associated with pregnancy in the rat
    K N Millard
    Iron Metabolism Laboratory, The Queensland Institute of Medical Research, PO Royal Brisbane Hospital, Brisbane, Queensland 4029 Australia
    Gut 53:655-60. 2004
    ..Iron absorption increases during pregnancy to cater for the increased iron requirements of the growing fetus...
  50. pmc Synergy between the C2 allele of transferrin and the C282Y allele of the haemochromatosis gene (HFE) as risk factors for developing Alzheimer's disease
    K J H Robson
    MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK
    J Med Genet 41:261-5. 2004
    ..There is evidence that iron may play a role in the pathology of Alzheimer's disease (AD). There may be genetic factors that contribute to iron deposition resulting in tissue damage thus exacerbating AD...
  51. ncbi Localization of iron metabolism-related mRNAs in rat liver indicate that HFE is expressed predominantly in hepatocytes
    An Sheng Zhang
    Department of Cell and Developmental Biology, Oregon Health and Science University, Portland, OR 97239, USA
    Blood 103:1509-14. 2004
    ..Levels of type I hereditary hemochromatosis gene (HFE), transferrin, hepcidin, transferrin receptors 1 and 2 (TfR1, TfR2), ferroportin 1 (FPN1), divalent metal ..

Research Grants1

  1. Iron as a Nutritional Modifier of Toxic Neuropathy in HIV/AIDS
    Asha Kallianpur; Fiscal Year: 2007
    ..A common variant in the hemochromatosis (HFE) gene, C282Y, causes increased dietary iron absorption and defects in cellular iron transport and immunity...