Hfe

Summary

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

Top Publications

  1. Millard K, Frazer D, Wilkins S, Anderson G. Changes in the expression of intestinal iron transport and hepatic regulatory molecules explain the enhanced iron absorption associated with pregnancy in the rat. Gut. 2004;53:655-60 pubmed
    ..and 24-48 hours post-partum were examined for hepatic expression of hepcidin, transferrin receptors 1 and 2, and HFE (the gene mutated in the most prevalent form of hereditary haemochromatosis), and duodenal expression of divalent ..
  2. Girelli D, Trombini P, Busti F, Campostrini N, Sandri M, Pelucchi S, et al. A time course of hepcidin response to iron challenge in patients with HFE and TFR2 hemochromatosis. Haematologica. 2011;96:500-6 pubmed publisher
    Inadequate hepcidin production leads to iron overload in nearly all types of hemochromatosis. We explored the acute response of hepcidin to iron challenge in 25 patients with HFE-hemochromatosis, in two with TFR2-hemochromatosis and in ..
  3. Gnana Prakasam J, Thangaraju M, Liu K, Ha Y, Martin P, Smith S, et al. Absence of iron-regulatory protein Hfe results in hyperproliferation of retinal pigment epithelium: role of cystine/glutamate exchanger. Biochem J. 2009;424:243-52 pubmed publisher
    ..Mutations in HFE (histocompatability leucocyte antigen class I-like protein involved in iron homoeostasis) are responsible for most ..
  4. Phillips J, Jackson L, Bunting M, Franklin M, Thomas K, Levy J, et al. A mouse model of familial porphyria cutanea tarda. Proc Natl Acad Sci U S A. 2001;98:259-64 pubmed
    ..b>Hemochromatosis gene (HFE) mutations are frequently found when the phenotype is expressed...
  5. Zhang A, Xiong S, Tsukamoto H, Enns C. Localization of iron metabolism-related mRNAs in rat liver indicate that HFE is expressed predominantly in hepatocytes. Blood. 2004;103:1509-14 pubmed
    ..Levels of type I hereditary hemochromatosis gene (HFE), transferrin, hepcidin, transferrin receptors 1 and 2 (TfR1, TfR2), ferroportin 1 (FPN1), divalent ..
  6. Fleming R, Migas M, Zhou X, Jiang J, Britton R, Brunt E, et al. Mechanism of increased iron absorption in murine model of hereditary hemochromatosis: increased duodenal expression of the iron transporter DMT1. Proc Natl Acad Sci U S A. 1999;96:3143-8 pubmed
    Hereditary hemochromatosis (HH) is a common autosomal recessive disorder characterized by tissue iron deposition secondary to excessive dietary iron absorption...
  7. Pereira A, Cuoco M, Mota G, da Silva F, Freitas H, Bocchi E, et al. Hemochromatosis gene variants in patients with cardiomyopathy. Am J Cardiol. 2001;88:388-91 pubmed
    ..We studied the distribution of hemochromatosis-related mutations in 319 patients with heart failure due to cardiomyopathy of different etiologies...
  8. Goswami T, Andrews N. Hereditary hemochromatosis protein, HFE, interaction with transferrin receptor 2 suggests a molecular mechanism for mammalian iron sensing. J Biol Chem. 2006;281:28494-8 pubmed
    ..2 (TFR2) are membrane proteins integral to mammalian iron homeostasis and associated with human hereditary hemochromatosis. Here we demonstrate that HFE and TFR2 interact in cells, that this interaction is not abrogated by disease-..
  9. Beckman L, Van Landeghem G, Sikström C, Wahlin A, Markevarn B, Hallmans G, et al. Interaction between haemochromatosis and transferrin receptor genes in different neoplastic disorders. Carcinogenesis. 1999;20:1231-3 pubmed
    A number of genes are involved in iron metabolism, including the transferrin receptor (TFR) and haemochromatosis (HFE) genes...
  10. Oliva R, Novials A, Sanchez M, Villa M, Ingelmo M, Recasens M, et al. The HFE gene is associated to an earlier age of onset and to the presence of diabetic nephropathy in diabetes mellitus type 2. Endocrine. 2004;24:111-4 pubmed
    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...

Detail Information

Publications67

  1. Millard K, Frazer D, Wilkins S, Anderson G. Changes in the expression of intestinal iron transport and hepatic regulatory molecules explain the enhanced iron absorption associated with pregnancy in the rat. Gut. 2004;53:655-60 pubmed
    ..and 24-48 hours post-partum were examined for hepatic expression of hepcidin, transferrin receptors 1 and 2, and HFE (the gene mutated in the most prevalent form of hereditary haemochromatosis), and duodenal expression of divalent ..
  2. Girelli D, Trombini P, Busti F, Campostrini N, Sandri M, Pelucchi S, et al. A time course of hepcidin response to iron challenge in patients with HFE and TFR2 hemochromatosis. Haematologica. 2011;96:500-6 pubmed publisher
    Inadequate hepcidin production leads to iron overload in nearly all types of hemochromatosis. We explored the acute response of hepcidin to iron challenge in 25 patients with HFE-hemochromatosis, in two with TFR2-hemochromatosis and in ..
  3. Gnana Prakasam J, Thangaraju M, Liu K, Ha Y, Martin P, Smith S, et al. Absence of iron-regulatory protein Hfe results in hyperproliferation of retinal pigment epithelium: role of cystine/glutamate exchanger. Biochem J. 2009;424:243-52 pubmed publisher
    ..Mutations in HFE (histocompatability leucocyte antigen class I-like protein involved in iron homoeostasis) are responsible for most ..
  4. Phillips J, Jackson L, Bunting M, Franklin M, Thomas K, Levy J, et al. A mouse model of familial porphyria cutanea tarda. Proc Natl Acad Sci U S A. 2001;98:259-64 pubmed
    ..b>Hemochromatosis gene (HFE) mutations are frequently found when the phenotype is expressed...
  5. Zhang A, Xiong S, Tsukamoto H, Enns C. Localization of iron metabolism-related mRNAs in rat liver indicate that HFE is expressed predominantly in hepatocytes. Blood. 2004;103:1509-14 pubmed
    ..Levels of type I hereditary hemochromatosis gene (HFE), transferrin, hepcidin, transferrin receptors 1 and 2 (TfR1, TfR2), ferroportin 1 (FPN1), divalent ..
  6. Fleming R, Migas M, Zhou X, Jiang J, Britton R, Brunt E, et al. Mechanism of increased iron absorption in murine model of hereditary hemochromatosis: increased duodenal expression of the iron transporter DMT1. Proc Natl Acad Sci U S A. 1999;96:3143-8 pubmed
    Hereditary hemochromatosis (HH) is a common autosomal recessive disorder characterized by tissue iron deposition secondary to excessive dietary iron absorption...
  7. Pereira A, Cuoco M, Mota G, da Silva F, Freitas H, Bocchi E, et al. Hemochromatosis gene variants in patients with cardiomyopathy. Am J Cardiol. 2001;88:388-91 pubmed
    ..We studied the distribution of hemochromatosis-related mutations in 319 patients with heart failure due to cardiomyopathy of different etiologies...
  8. Goswami T, Andrews N. Hereditary hemochromatosis protein, HFE, interaction with transferrin receptor 2 suggests a molecular mechanism for mammalian iron sensing. J Biol Chem. 2006;281:28494-8 pubmed
    ..2 (TFR2) are membrane proteins integral to mammalian iron homeostasis and associated with human hereditary hemochromatosis. Here we demonstrate that HFE and TFR2 interact in cells, that this interaction is not abrogated by disease-..
  9. Beckman L, Van Landeghem G, Sikström C, Wahlin A, Markevarn B, Hallmans G, et al. Interaction between haemochromatosis and transferrin receptor genes in different neoplastic disorders. Carcinogenesis. 1999;20:1231-3 pubmed
    A number of genes are involved in iron metabolism, including the transferrin receptor (TFR) and haemochromatosis (HFE) genes...
  10. Oliva R, Novials A, Sanchez M, Villa M, Ingelmo M, Recasens M, et al. The HFE gene is associated to an earlier age of onset and to the presence of diabetic nephropathy in diabetes mellitus type 2. Endocrine. 2004;24:111-4 pubmed
    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...
  11. Zamboni P, Izzo M, Tognazzo S, Carandina S, De Palma M, Catozzi L, et al. The overlapping of local iron overload and HFE mutation in venous leg ulcer pathogenesis. Free Radic Biol Med. 2006;40:1869-73 pubmed
    ..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...
  12. Vujic Spasic M, Sparla R, Mleczko Sanecka K, Migas M, Breitkopf Heinlein K, Dooley S, et al. Smad6 and Smad7 are co-regulated with hepcidin in mouse models of iron overload. Biochim Biophys Acta. 2013;1832:76-84 pubmed publisher
    ..Using mouse models for hereditary hemochromatosis (Hfe-, TfR2-, Hfe/TfR2-, Hjv- and hepcidin1-deficient mice) we show that hepcidin, Smad6 and Smad7 mRNA ..
  13. Gruper Y, Bar J, Bacharach E, Ehrlich R. Transferrin receptor co-localizes and interacts with the hemochromatosis factor (HFE) and the divalent metal transporter-1 (DMT1) in trophoblast cells. J Cell Physiol. 2005;204:901-12 pubmed
    ..were recently characterized, including DMT1 and ferroportin/Ireg1 that transport iron through membranes, and HFE that regulates TfR-mediated iron uptake...
  14. Waheed A, Parkkila S, Saarnio J, Fleming R, Zhou X, Tomatsu S, et al. Association of HFE protein with transferrin receptor in crypt enterocytes of human duodenum. Proc Natl Acad Sci U S A. 1999;96:1579-84 pubmed
    In hereditary hemochromatosis (HH), intestinal absorption of dietary iron is increased, leading to excessive iron accumulation in tissues and resultant organ damage...
  15. Barton J, Acton R, Rivers C, Bertoli L, Gelbart T, West C, et al. Genotypic and phenotypic heterogeneity of African Americans with primary iron overload. Blood Cells Mol Dis. 2003;31:310-9 pubmed
    ..The percentage of index patients positive for HFE C282Y was greater than that of controls (P = 0.0058)...
  16. Bugianesi E, Leone N, Vanni E, Marchesini G, Brunello F, Carucci P, et al. Expanding the natural history of nonalcoholic steatohepatitis: from cryptogenic cirrhosis to hepatocellular carcinoma. Gastroenterology. 2002;123:134-40 pubmed
    ..Iron status and presence of mutations in the HFE gene of familiar hemochromatosis were also determined. Family history was not different in relation to etiology...
  17. Robson K, Lehmann D, Wimhurst V, Livesey K, Combrinck M, Merryweather Clarke A, et al. Synergy between the C2 allele of transferrin and the C282Y allele of the haemochromatosis gene (HFE) as risk factors for developing Alzheimer's disease. J Med Genet. 2004;41:261-5 pubmed
    ..the interaction between the C2 variant of the transferrin (TF) gene and the C282Y allele of the haemochromatosis (HFE) gene as risk factors for developing AD...
  18. Dorak M, Burnett A, Worwood M, Sproul A, Gibson B. The C282Y mutation of HFE is another male-specific risk factor for childhood acute lymphoblastic leukemia. Blood. 1999;94:3957 pubmed
  19. Lebron J, Bennett M, Vaughn D, Chirino A, Snow P, Mintier G, et al. Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor. Cell. 1998;93:111-23 pubmed
    HFE is an MHC-related protein that is mutated in the iron-overload disease hereditary hemochromatosis. HFE binds to transferrin receptor (TfR) and reduces its affinity for iron-loaded transferrin, implicating HFE in iron metabolism...
  20. Cribier B, Chiaverini C, Dali Youcef N, Schmitt M, Grima M, Hirth C, et al. Porphyria cutanea tarda, hepatitis C, uroporphyrinogen decarboxylase and mutations of HFE gene. A case-control study. Dermatology. 2009;218:15-21 pubmed publisher
    b>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...
  21. Tsui W, Lam P, Lee K, Ma K, Chan Y, Wong M, et al. The C282Y mutation of the HFE gene is not found in Chinese haemochromatotic patients: multicentre retrospective study. Hong Kong Med J. 2000;6:153-8 pubmed
    To detect two novel mutations (C282Y and H63D) of the HFE gene in Chinese patients with hepatic iron overload. Multicentre retrospective study. Four public hospitals, Hong Kong...
  22. Dubois Laforgue D, Caillat Zucman S, Boitard C, Timsit J. Clinical characteristics of type 2 diabetes in patients with mutations of HFE. Diabetes Metab. 2000;26:65-8 pubmed
    Genetic hemochromatosis (GH) is associated with two mutations of the HFE gene (Cys282Tyr and His63Asp)...
  23. Kallianpur A, Hall L, Yadav M, Byrne D, Speroff T, Dittus R, et al. The hemochromatosis C282Y allele: a risk factor for hepatic veno-occlusive disease after hematopoietic stem cell transplantation. Bone Marrow Transplant. 2005;35:1155-64 pubmed
    ..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 risk of HVOD after ..
  24. Davis C, Dorak M. An extensive analysis of the hereditary hemochromatosis gene HFE and neighboring histone genes: associations with childhood leukemia. Ann Hematol. 2010;89:375-84 pubmed publisher
    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...
  25. Yunker L, Parboosingh J, Conradson H, Faris P, Bridge P, Buithieu J, et al. The effect of iron status on vascular health. Vasc Med. 2006;11:85-91 pubmed
    ..This study was designed to evaluate the relationship between hemochromatosis genotypes, serum ferritin levels and presymptomatic vascular abnormalities in a cohort of healthy subjects...
  26. Surber R, Sigusch H, Kuehnert H, Figulla H. Haemochromatosis (HFE) gene C282Y mutation and the risk of coronary artery disease and myocardial infarction: a study in 1279 patients undergoing coronary angiography. J Med Genet. 2003;40:e58 pubmed
  27. Feder J, Penny D, Irrinki A, Lee V, Lebron J, Watson N, et al. The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc Natl Acad Sci U S A. 1998;95:1472-7 pubmed
    We recently reported the positional cloning of a candidate gene for hereditary hemochromatosis called HFE...
  28. Waheed A, Britton R, Grubb J, Sly W, Fleming R. HFE association with transferrin receptor 2 increases cellular uptake of transferrin-bound iron. Arch Biochem Biophys. 2008;474:193-7 pubmed publisher
    ..HFE or transferrin receptor 2 (TfR2) cause decreased expression of the iron regulatory hormone hepcidin and hemochromatosis. HFE and TfR2 were recently discovered to form a stable complex at the cell membrane when co-expressed in ..
  29. Oliveira T, Souza F, Jardim A, Cordeiro J, Pinho J, Sitnik R, et al. HFE gene mutations in Brazilian thalassemic patients. Braz J Med Biol Res. 2006;39:1575-80 pubmed
    Hereditary hemochromatosis is a disorder of iron metabolism characterized by increased iron intake and progressive storage and is related to mutations in the HFE gene...
  30. Lipshultz S, Lipsitz S, Kutok J, Miller T, Colan S, Neuberg D, et al. Impact of hemochromatosis gene mutations on cardiac status in doxorubicin-treated survivors of childhood high-risk leukemia. Cancer. 2013;119:3555-62 pubmed publisher
    ..The authors determined the frequency of hemochromatosis (HFE) gene mutations associated with hereditary hemochromatosis and their relationship with doxorubicin-..
  31. Wu X, Wang Y, Wu Q, Cheng W, Liu W, Zhao Y, et al. HFE interacts with the BMP type I receptor ALK3 to regulate hepcidin expression. Blood. 2014;124:1335-43 pubmed publisher
    Mutations in HFE are the most common cause of hereditary hemochromatosis (HH)...
  32. Kallianpur A, Hall L, Yadav M, Christman B, Dittus R, Haines J, et al. Increased prevalence of the HFE C282Y hemochromatosis allele in women with breast cancer. Cancer Epidemiol Biomarkers Prev. 2004;13:205-12 pubmed
    Individuals with the major hemochromatosis (HFE) allele C282Y and iron overload develop hepatocellular and some extrahepatic malignancies at increased rates...
  33. Sanchez M, Queralt R, Bruguera M, Rodes J, Oliva R. Cloning, sequencing and characterization of the rat hereditary hemochromatosis promoter: comparison of the human, mouse and rat HFE promoter regions. Gene. 1998;225:77-87 pubmed
    We have cloned and sequenced 1398bp of the rat HFE gene promoter region...
  34. Jazayeri M, Bakayev V, Adibi P, Haghighi Rad F, Zakeri H, Kalantar E, et al. Frequency of HFE gene mutations in Iranian beta-thalassaemia minor patients. Eur J Haematol. 2003;71:408-11 pubmed
    ..When it is inherited together with a mutation in the HFE (HLA-H) gene associated with hereditary haemochromatosis, iron overload may ensue...
  35. Roy C, Penny D, Feder J, Enns C. The hereditary hemochromatosis protein, HFE, specifically regulates transferrin-mediated iron uptake in HeLa cells. J Biol Chem. 1999;274:9022-8 pubmed
    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...
  36. Xiong S, She H, Zhang A, Wang J, Mkrtchyan H, Dynnyk A, et al. Hepatic macrophage iron aggravates experimental alcoholic steatohepatitis. Am J Physiol Gastrointest Liver Physiol. 2008;295:G512-21 pubmed publisher
    ..Chronic 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-..
  37. Bennett M, Lebron J, Bjorkman P. Crystal structure of the hereditary haemochromatosis protein HFE complexed with transferrin receptor. Nature. 2000;403:46-53 pubmed
    b>HFE is related to major histocompatibility complex (MHC) class I proteins and is mutated in the iron-overload disease hereditary haemochromatosis...
  38. Nearman Z, Szpurka H, Serio B, Warshawksy I, Theil K, Lichtin A, et al. Hemochromatosis-associated gene mutations in patients with myelodysplastic syndromes with refractory anemia with ringed sideroblasts. Am J Hematol. 2007;82:1076-9 pubmed
    ..Hence, we hypothesized RARS patients may harbor hemochromatosis-related mutations, which could contribute to the pathophysiology of this myelodysplastic syndromes (MDS) ..
  39. Colli M, Gross J, Canani L. Mutation H63D in the HFE gene confers risk for the development of type 2 diabetes mellitus but not for chronic complications. J Diabetes Complications. 2011;25:25-30 pubmed publisher
    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. A case-control study with 723 subjects was performed...
  40. Ramos P, Guy E, Chen N, Proenca C, Gardenghi S, Casu C, et al. Enhanced erythropoiesis in Hfe-KO mice indicates a role for Hfe in the modulation of erythroid iron homeostasis. Blood. 2011;117:1379-89 pubmed publisher
    In hereditary hemochromatosis, mutations in HFE lead to iron overload through abnormally low levels of hepcidin...
  41. West A, Thomas C, Sadlier J, Oates P. Haemochromatosis protein is expressed on the terminal web of enterocytes in proximal small intestine of the rat. Histochem Cell Biol. 2006;125:283-92 pubmed
    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...
  42. Griffiths W, Cox T. Co-localization of the mammalian hemochromatosis gene product (HFE) and a newly identified transferrin receptor (TfR2) in intestinal tissue and cells. J Histochem Cytochem. 2003;51:613-24 pubmed
    Mutations in the HFE gene and a newly identified second transferrin receptor gene, TfR2, cause hemochromatosis. The cognate proteins, HFE and TfR2, are therefore of key importance in human iron homeostasis...
  43. Reuben A, Phénix M, Santos M, Lapointe R. The WT hemochromatosis protein HFE inhibits CD8? T-lymphocyte activation. Eur J Immunol. 2014;44:1604-14 pubmed publisher
    ..Hereditary hemochromatosis protein, HFE, is involved in cellular iron uptake but, while structurally homologous to MHC I, is unable to ..
  44. Viola A, Pagano L, Laudati D, D Elia R, D Amico M, Ammirabile M, et al. HFE gene mutations in patients with acute leukemia. Leuk Lymphoma. 2006;47:2331-4 pubmed
    An increased incidence of HFE gene mutations has been described in hematologic malignancies...
  45. Mollbrink A, Holmström P, Sjöström M, Hultcrantz R, Eriksson L, Stål P. Iron-regulatory gene expression during liver regeneration. Scand J Gastroenterol. 2012;47:591-600 pubmed publisher
    ..Messenger-RNA levels of hepcidin, ferritin, hemojuvelin, transferrin receptor 1 and 2, HFE, divalent metal transporter 1, ferroportin, and ceruloplasmin were determined with qPCR at different time points...
  46. Varkonyi J, Tarkovács G, Karadi I, Andrikovics H, Varga F, Varga F, et al. High incidence of hemochromatosis gene mutations in the myelodysplastic syndrome: the Budapest Study on 50 patients. Acta Haematol. 2003;109:64-7 pubmed
    ..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 when compared to healthy blood donors ..
  47. Mura C, Raguenes O, Ferec C. HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis. Blood. 1999;93:2502-5 pubmed
    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...
  48. Tuomainen T, Kontula K, Nyyssonen K, Lakka T, Helio T, Salonen J. Increased risk of acute myocardial infarction in carriers of the hemochromatosis gene Cys282Tyr mutation : a prospective cohort study in men in eastern Finland. Circulation. 1999;100:1274-9 pubmed
    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...
  49. Köppel H, Krippl P, Gasser R, Wascher T, Paulweber B, Pilger E, et al. Hemochromatosis gene (HFE) polymorphisms are not associated with peripheral arterial disease. Thromb Haemost. 2004;91:1258-9 pubmed
  50. Bensaid M, Fruchon S, Mazères C, Bahram S, Roth M, Coppin H. Multigenic control of hepatic iron loading in a murine model of hemochromatosis. Gastroenterology. 2004;126:1400-8 pubmed
    Hereditary hemochromatosis is a common disorder of iron homeostasis characterized by increased dietary iron absorption and progressive iron accumulation, mainly in the liver...
  51. George D, Goldwurm S, Macdonald G, Cowley L, Walker N, Ward P, et al. Increased hepatic iron concentration in nonalcoholic steatohepatitis is associated with increased fibrosis. Gastroenterology. 1998;114:311-8 pubmed
    ..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 ..
  52. Feder J, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy D, Basava A, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet. 1996;13:399-408 pubmed
    ..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. ..
  53. Mahon N, Coonar A, Jeffery S, Coccolo F, Akiyu J, Zal B, et al. Haemochromatosis gene mutations in idiopathic dilated cardiomyopathy. Heart. 2000;84:541-7 pubmed
    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...
  54. Melis M, Cau M, Deidda F, Barella S, Cao A, Galanello R. H63D mutation in the HFE gene increases iron overload in beta-thalassemia carriers. Haematologica. 2002;87:242-5 pubmed
    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)...
  55. Lebeau A, Frank J, Biesalski H, Weiss G, Srai S, Simpson R, et al. Long-term sequelae of HFE deletion in C57BL/6 x 129/O1a mice, an animal model for hereditary haemochromatosis. Eur J Clin Invest. 2002;32:603-12 pubmed
    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...
  56. Putova I, Cimburova M, Jarosova K, Vencovsky J, Horak J. [Mutations in the HFE gene in patients with rheumatic diseases]. Cas Lek Cesk. 2005;144:391-7; discussion 397-8 pubmed
    Hereditary hemochromatosis is one of the most common autosomal recessive diseases. Aim of the study. 1...
  57. Barton J, Bertoli L, Acton R. Common variable immunodeficiency and IgG subclass deficiency in central Alabama hemochromatosis probands homozygous for HFE C282Y. Blood Cells Mol Dis. 2003;31:102-11 pubmed
    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)...
  58. Holmström P, Dzikaite V, Hultcrantz R, Melefors O, Eckes K, Stål P, et al. Structure and liver cell expression pattern of the HFE gene in the rat. J Hepatol. 2003;39:308-14 pubmed
    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...
  59. Dongiovanni P, Fracanzani A, Cairo G, Megazzini C, Gatti S, Rametta R, et al. Iron-dependent regulation of MDM2 influences p53 activity and hepatic carcinogenesis. Am J Pathol. 2010;176:1006-17 pubmed publisher
    ..MDM2 and lower p53 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 ..
  60. Kondrashova T, Neriishi K, Ban S, Ivanova T, Krikunova L, Shentereva N, et al. Frequency of hemochromatosis gene (HFE) mutations in Russian healthy women and patients with estrogen-dependent cancers. Biochim Biophys Acta. 2006;1762:59-65 pubmed
    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...
  61. Zamboni P, Tognazzo S, Izzo M, Pancaldi F, Scapoli G, Liboni A, et al. Hemochromatosis C282Y gene mutation increases the risk of venous leg ulceration. J Vasc Surg. 2005;42:309-14 pubmed
    ..disorder, 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...
  62. Makui H, Soares R, Jiang W, Constante M, Santos M. Contribution of Hfe expression in macrophages to the regulation of hepatic hepcidin levels and iron loading. Blood. 2005;106:2189-95 pubmed
    Hereditary hemochromatosis (HH), an iron overload disease associated with mutations in the HFE gene, is characterized by increased intestinal iron absorption and consequent deposition of excess iron, primarily in the liver...
  63. Wolff C, Armas R, Frank J, Poblete P. [Mutations of hemochromatosis gene in volunteer blood donors and Chilean porphyria cutanea tarda patients]. Medicina (B Aires). 2006;66:421-6 pubmed
    In patients with porphyria cutanea tarda (PCT), hepatic iron accumulation associated to hereditary hemochromatosis (HH) could play a role in the etiology and in the clinical expression of the disease...
  64. Naz N, Malik I, Sheikh N, Ahmad S, Khan S, Blaschke M, et al. Ferroportin-1 is a 'nuclear'-negative acute-phase protein in rat liver: a comparison with other iron-transport proteins. Lab Invest. 2012;92:842-56 pubmed publisher
    ..In liver, mRNA amount of Fpn-1, Fpn-1a, Fpn-1b, HFE, hemojuvelin (HJV) and hephaestin (heph) genes showed a rapid decrease...
  65. Candore G, Balistreri C, Lio D, Mantovani V, Colonna Romano G, Chiappelli M, et al. Association between HFE mutations and acute myocardial infarction: a study in patients from Northern and Southern Italy. Blood Cells Mol Dis. 2003;31:57-62 pubmed
    ..Hereditary hemochromatosis provides an opportunity for studying the effects of iron on cardiovascular disease...
  66. Marchesini G, Brizi M, Bianchi G, Tomassetti S, Bugianesi E, Lenzi M, et al. Nonalcoholic fatty liver disease: a feature of the metabolic syndrome. Diabetes. 2001;50:1844-50 pubmed
    ..Four subjects were heterozygous for mutation His63Asp of the HFE gene of familiar hemochromatosis. We concluded that NAFLD, in the presence of normoglycemia and normal or moderately increased body weight, is ..