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References

  • 1
    Nemeth E, Tuttle MS, Powelson J, Vaughn MB, Donovan A, Ward DM, et al. Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization. Science 2004; 306: 20902093.
  • 2
    Roetto A, Papanikolaou G, Politou M, Alberti F, Girelli D, Christakis J, et al. Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. Nat Genet 2003; 33: 2122.
  • 3
    Papanikolaou G, Samuels ME, Ludwig EH, MacDonald ML, Franchini PL, Dube MP, et al. Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. Nat Genet 2004; 36: 7782.
  • 4
    Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996; 13: 399408.
  • 5
    Camaschella C, Roetto A, Cali A, De Gobbi M, Garozzo G, Carella M, et al. The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22. Nat Genet 2000; 25: 1415.
  • 6
    Majore S, Milano F, Binni F, Stuppia L, Cerrone A, Tafuri A, et al. Homozygous p.M172K mutation of the TFR2 gene in an Italian family with type 3 hereditary hemochromatosis and early onset iron overload. Haematologica 2006; 91: ECR33.
  • 7
    Le Gac G, Mons F, Jacolot S, Scotet V, Ferec C, Frebourg T. Early onset hereditary hemochromatosis resulting from a novel TFR2 gene nonsense mutation (R105X) in two siblings of north French descent. Br J Haematol 2004; 125: 674678.
  • 8
    Piperno A, Roetto A, Mariani R, Pelucchi S, Corengia C, Daraio F, et al. Homozygosity for transferrin receptor-2 Y250X mutation induces early iron overload. Haematologica 2004; 89: 359360.
  • 9
    Biasiotto G, Camaschella C, Forni GL, Polotti A, Zecchina G, Arosio P. New TFR2 mutations in young Italian patients with hemochromatosis. Haematologica 2008; 93: 309310.
  • 10
    Bridle KR, Frazer DM, Wilkins SJ, Dixon JL, Purdie DM, Crawford DH, et al. Disrupted hepcidin regulation in HFE-associated haemochromatosis and the liver as a regulator of body iron homoeostasis. Lancet 2003; 361: 669673.
  • 11
    Nemeth E, Roetto A, Garozzo G, Ganz T, Camaschella C. Hepcidin is decreased in TFR2 hemochromatosis. Blood 2005; 105: 18031806.
  • 12
    Kawabata H, Fleming RE, Gui D, Moon SY, Saitoh T, O'Kelly J, et al. Expression of hepcidin is down-regulated in TfR2 mutant mice manifesting a phenotype of hereditary hemochromatosis. Blood 2005; 105: 376381.
  • 13
    Wallace DF, Summerville L, Lusby PE, Subramaniam VN. First phenotypic description of transferrin receptor 2 knockout mouse, and the role of hepcidin. Gut 2005; 54: 980986.
  • 14
    Vujic Spasic M, Kiss J, Herrmann T, Galy B, Martinache S, Stolte J, et al. Hfe acts in hepatocytes to prevent hemochromatosis. Cell Metab 2008; 7: 173178.
  • 15
    Wallace DF, Summerville L, Subramaniam VN. Targeted disruption of the hepatic transferrin receptor 2 gene in mice leads to iron overload. Gastroenterology 2007; 132: 301310.
  • 16
    Pietrangelo A, Caleffi A, Henrion J, Ferrara F, Corradini E, Kulaksiz H, et al. Juvenile hemochromatosis associated with pathogenic mutations of adult hemochromatosis genes. Gastroenterology 2005; 128: 470479.
  • 17
    Wallace DF, Tonks ID, Zournazi A, Kay GF, Subramaniam VN. Inactivation of the murine Transferrin Receptor 2 gene using the Cre recombinase: loxP system. Genesis 2004; 39: 3841.
  • 18
    Fleming RE, Migas MC, Zhou X, Jiang J, Britton RS, Brunt EM, 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: 31433148.
  • 19
    Torrance JD, Bothwell TH. A simple technique for measuring storage iron concentrations in formalinised liver samples. S Afr J Med Sci 1968; 33: 911.
  • 20
    Wallace DF, Summerville L, Lusby PE, Subramaniam VN. Prohepcidin localises to the Golgi compartment and secretory pathway in hepatocytes. J Hepatol 2005; 43: 720728.
  • 21
    Robb A, Wessling-Resnick M. Regulation of transferrin receptor 2 protein levels by transferrin. Blood 2004; 104: 42944299.
  • 22
    Courselaud B, Troadec MB, Fruchon S, Ilyin G, Borot N, Leroyer P, et al. Strain and gender modulate hepatic hepcidin 1 and 2 mRNA expression in mice. Blood Cells Mol Dis 2004; 32: 283289.
  • 23
    Fleming RE, Holden CC, Tomatsu S, Waheed A, Brunt EM, Britton RS, et al. Mouse strain differences determine severity of iron accumulation in Hfe knockout model of hereditary hemochromatosis. Proc Natl Acad Sci U S A 2001; 98: 27072711.
  • 24
    Ahmad KA, Ahmann JR, Migas MC, Waheed A, Britton RS, Bacon BR, et al. Decreased liver hepcidin expression in the Hfe knockout mouse. Blood Cells Mol Dis 2002; 29: 361366.
  • 25
    Gehrke SG, Herrmann T, Kulaksiz H, Merle U, Bents K, Kaiser I, et al. Iron stores modulate hepatic hepcidin expression by an HFE-independent pathway. Digestion 2005; 72: 2532.
  • 26
    Constante M, Jiang W, Wang D, Raymond VA, Bilodeau M, Santos MM. Distinct requirements for Hfe in basal and induced hepcidin levels in iron overload and inflammation. Am J Physiol Gastrointest Liver Physiol 2006; 291: G229G237.
  • 27
    Piperno A, Girelli D, Nemeth E, Trombini P, Bozzini C, Poggiali E, et al. Blunted hepcidin response to oral iron challenge in HFE-related hemochromatosis. Blood 2007; 110: 40964100.
  • 28
    Pietrangelo A, Dierssen U, Valli L, Garuti C, Rump A, Corradini E, et al. STAT3 is required for IL-6-gp130-dependent activation of hepcidin in vivo. Gastroenterology 2007; 132: 294300.
  • 29
    Babitt JL, Huang FW, Wrighting DM, Xia Y, Sidis Y, Samad TA, et al. Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression. Nat Genet 2006; 38: 531539.
  • 30
    Calzolari A, Raggi C, Deaglio S, Sposi NM, Stafsnes M, Fecchi K, et al. TfR2 localizes in lipid raft domains and is released in exosomes to activate signal transduction along the MAPK pathway. J Cell Sci 2006; 119: 44864498.
  • 31
    Pigeon C, Ilyin G, Courselaud B, Leroyer P, Turlin B, Brissot P, A new mouse liver-specific gene, encoding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during iron overload. J Biol Chem 2001; 276: 78117819.
  • 32
    Parkkila S, Waheed A, Britton RS, Bacon BR, Zhou XY, Tomatsu S, et al. Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis. Proc Natl Acad Sci U S A 1997; 94: 1319813202.
  • 33
    Goswami T, Andrews NC. Hereditary hemochromatosis protein, HFE, interaction with transferrin receptor 2 suggests a molecular mechanism for mammalian iron sensing. J Biol Chem 2006; 281: 2849428498.
  • 34
    Chen J, Enns CA. The cytoplasmic domain of transferrin receptor 2 dictates its stability and response to holo-transferrin in Hep3B cells. J Biol Chem 2007; 282: 62016209.
  • 35
    Schmidt PJ, Toran PT, Giannetti AM, Bjorkman PJ, Andrews NC. The transferrin receptor modulates hfe-dependent regulation of hepcidin expression. Cell Metab 2008; 7: 205214.
  • 36
    Gao J, Chen J, Kramer M, Tsukamoto H, Zhang AS, Enns CA. Interaction of the hereditary hemochromatosis protein HFE with transferrin receptor 2 is required for transferrin-induced hepcidin expression. Cell Metab 2009; 9: 217227.
  • 37
    Wang RH, Li C, Xu X, Zheng Y, Xiao C, Zerfas P, et al. A role of SMAD4 in iron metabolism through the positive regulation of hepcidin expression. Cell Metab 2005; 2: 399409.
  • 38
    Kautz L, Meynard D, Monnier A, Darnaud V, Bouvet R, Wang RH, et al. Iron regulates phosphorylation of Smad1/5/8 and gene expression of Bmp6, Smad7, Id1, and Atoh8 in the mouse liver. Blood 2008; 112: 15031509.
  • 39
    Ramey G, Deschemin JC, Vaulont S. Cross-talk between the mitogen activated protein kinase and bone morphogenetic protein/hemojuvelin pathways is required for the induction of hepcidin by holotransferrin in primary mouse hepatocytes. Haematologica 2009; 94: 765772.