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References

  • 1
    von Recklinghausen FD. [Hemochromatosis]. Taggeblatt Versammlung Dtsch Naturforsch Arzte Heidelberg 1889; 62: 324325.
  • 2
    Sheldon J. Haemochromatosis. London: Oxford University Press, 1935.
  • 3
    Simon M, Pawlotsky Y, Bourel M, Fauchet R, Genetet B. Letter: idiopathic hemochromatosis associated with HL-A 3 tissular antigen. Nouv Presse Med 1975; 4: 1432.
  • 4
    Simon M, Le Mignon L, Fauchet R, Yaouanq J, David V, Edan G, Bourel M. A study of 609 HLA haplotypes marking for the hemochromatosis gene: (1) mapping of the gene near the HLA-A locus and characters required to define a heterozygous population and (2) hypothesis concerning the underlying cause of hemochromatosis-HLA association. Am J Hum Genet 1987; 41: 89105.
  • 5
    Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, Dormishian F, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996; 13: 399408.
  • 6
    Piperno A, Sampietro M, Pietrangelo A, Arosio C, Lupica L, Montosi G, Vergani A, et al. Heterogeneity of hemochromatosis in Italy. Gastroenterology 1998; 114: 9961002.
  • 7
    Borot N, Roth M, Malfroy L, Demangel C, Vinel JP, Pascal JP, Coppin H. Mutations in the MHC class I-like candidate gene for hemochromatosis in French patients. Immunogenetics 1997; 45: 320324.
  • 8
    Pietrangelo A. Hemochromatosis 1998: is one gene enough? J Hepatol 1998; 29: 502509.
  • 9
    Yoshida K, Furihata K, Takeda S, Nakamura A, Yamamoto K, Morita H, Hiyamuta S, et al. A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans. Nat Genet 1995; 9: 267272.
  • 10
    Harris ZL, Takahashi Y, Miyajima H, Serizawa M, MacGillivray RT, Gitlin JD. Aceruloplasminemia: molecular characterization of this disorder of iron metabolism. Proc Natl Acad Sci U S A 1995; 92: 25392543.
  • 11
    Goya N, Miyazaki S, Kodate S, Ushio B. A family of congenital atransferrinemia. Blood 1972; 40: 239245.
  • 12
    Kato J, Fujikawa K, Kanda M, Fukuda N, Sasaki K, Takayama T, Kobune M, et al. A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload. Am J Hum Genet 2001; 69: 191197.
  • 13
    Pietrangelo A, Montosi G, Totaro A, Garuti C, Conte D, Cassanelli S, Fraquelli M, et al. Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene. N Engl J Med 1999; 341: 725732.
  • 14
    Montosi G, Donovan A, Totaro A, Garuti C, Pignatti E, Cassanelli S, Trenor CC, et al. Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. J Clin Invest 2001; 108: 619623.
  • 15
    Njajou OT, Vaessen N, Joosse M, Berghuis B, van Dongen JW, Breuning MH, Snijders PJ, et al. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. Nat Genet 2001; 28: 213214.
  • 16
    Devalia V, Carter K, Walker AP, Perkins SJ, Worwood M, May A, Dooley JS. Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3). Blood 2002; 100: 695697.
  • 17
    Wallace DF, Pedersen P, Dixon JL, Stephenson P, Searle JW, Powell LW, Subramaniam VN. Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis. Blood 2002; 100: 692694.
  • 18
    Roetto A, Merryweather-Clarke AT, Daraio F, Livesey K, Pointon JJ, Barbabietola G, Piga A, et al. A valine deletion of ferroportin 1: a common mutation in hemochromastosis type 4. Blood 2002; 100: 733734.
  • 19
    Cazzola M, Cremonesi L, Papaioannou M, Soriani N, Kioumi A, Charalambidou A, Paroni R, et al. Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3). Br J Haematol 2002; 119: 539546.
  • 20
    Hetet G, Devaux I, Soufir N, Grandchamp B, Beaumont C. Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and three new ferroportin (slc11A3) mutations. Blood 2003; 102: 19041910.
  • 21
    Rivard SR, Lanzara C, Grimard D, Carella M, Simard H, Ficarella R, Simard R, et al. Autosomal dominant reticuloendothelial iron overload (HFE type 4) due to a new missense mutation in the ferroportin 1 gene (SLC11A3) in a large French-Canadian family. Haematologica 2003; 88: 824826.
  • 22
    Jouanolle AM, Douabin-Gicquel V, Halimi C, Loreal O, Fergelot P, Delacour T, de Lajarte-Thirouard AS, et al. Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload. J Hepatol 2003; 39: 286289.
  • 23
    Donovan A, Brownlie A, Zhou Y, Shepard J, Pratt SJ, Moynihan J, Paw BH, et al. Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter. Nature 2000; 403: 776781.
  • 24
    McKie AT, Marciani P, Rolfs A, Brennan K, Wehr K, Barrow D, Miret S, et al. A novel duodenal iron-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation. Mol Cell 2000; 5: 299309.
  • 25
    Abboud S, Haile DJ. A novel mammalian iron-regulated protein involved in intracellular iron metabolism. J Biol Chem 2000; 275: 1990619912.
  • 26
    Zoller H, Koch RO, Theurl I, Obrist P, Pietrangelo A, Montosi G, Haile DJ, et al. Expression of the duodenal iron transporters divalent-metal transporter 1 and ferroportin 1 in iron deficiency and iron overload. Gastroenterology 2001; 120: 14121419.
  • 27
    Zoller H, Pietrangelo A, Vogel W, Weiss G. Duodenal metal-transporter (DMT-1, NRAMP-2) expression in patients with hereditary haemochromatosis. Lancet 1999; 353: 21202123.
  • 28
    Yang F, Liu XB, Quinones M, Melby PC, Ghio A, Haile DJ. Regulation of reticuloendothelial iron transporter MTP1 (Slc11a3) by inflammation. J Biol Chem 2002; 277: 3978639791.
  • 29
    Yamaji S, Tennant J, Tandy S, Williams M, Singh Srai SK, Sharp P. Zinc regulates the function and expression of the iron transporters DMT1 and IREG1 in human intestinal Caco-2 cells. FEBS Lett 2001; 507: 137141.
  • 30
    Yang F, Wang X, Haile DJ, Piantadosi CA, Ghio AJ. Iron increases expression of iron-export protein MTP1 in lung cells. Am J Physiol Lung Cell Mol Physiol 2002; 283: 932939.
  • 31
    Martini LA, Tchack L, Wood RJ. Iron treatment downregulates DMT1 and IREG1 mRNA expression in Caco-2 cells. J Nutr 2002; 132: 693696.
  • 32
    Lymboussaki A, Pignatti E, Montosi G, Garuti C, Haile DJ, Pietrangelo A. The SLC11A3 gene, encoding for a main iron export protein, is controlled posttranscriptionally by iron in hepatic and intestinal cells. J Hepatol 2003; 39: 710715.
  • 33
    Frazer DM, Wilkins SJ, Becker EM, Vulpe CD, McKie AT, Trinder D, Anderson GJ. Hepcidin expression inversely correlates with the expression of duodenal iron transporters and iron absorption in rats. Gastroenterology 2002; 123: 835844.
  • 34
    Gualdi R, Casalgrandi G, Montosi G, Ventura E, Pietrangelo A. Excess iron into hepatocytes is required for activation of collagen type I gene during experimental siderosis. Gastroenterology 1994; 107: 11181124.
  • 35
    Jouanolle AM, Douabin-Gicquel V, Halimi C, Loreal O, Fergelot P, Delacour T, de Lajarte-Thirouard AS, et al. Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload. J Hepatol 2003; 39: 286289.
  • 36
    Beaumont C, Leneuve P, Devaux I, Scoazec JY, Berthier M, Loiseau MN, Grandchamp B, et al. Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract. Nat Genet 1995; 11: 444446.
  • 37
    Girelli D, Corrocher R, Bisceglia L, Olivieri O, De Franceschi L, Zelante L, Gasparini P. Molecular basis for the recently described hereditary hyperferritinemia-cataract syndrome: a mutation in the iron-responsive element of ferritin L-subunit gene (the “Verona mutation”). Blood 1995; 86: 40504053.
  • 38
    Moirand R, Mortaji AM, Loreal O, Paillard F, Brissot P, Deugnier Y. A new syndrome of liver iron overload with normal transferrin saturation. Lancet 1997; 349: 9597.
  • 39
    Camaschella C, Roetto A, Cali A, De Gobbi M, Garozzo G, Carella M, Majorano N, et al. The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22. Nat Genet 2000; 25: 1415.
  • 40
    Kawabata H, Yang R, Hirama T, Vuong PT, Kawano S, Gombart AF, Koeffler HP. Molecular cloning of transferrin receptor 2. A new member of the transferrin receptor-like family. J Biol Chem 1999; 274: 2082620832.
  • 41
    Roetto A, Totaro A, Piperno A, Piga A, Longo F, Garozzo G, Cali A, et al. New mutations inactivating transferrin receptor 2 in hemochromatosis type 3. Blood 2001; 97: 25552560.
  • 42
    Mattman A, Huntsman D, Lockitch G, Langlois S, Buskard N, Ralston D, Butterfield Y, et al. Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation. Blood 2002; 100: 10751077.
  • 43
    Hattori A, Wakusawa S, Hayashi H, Harashima A, Sanae F, Kawanaka M, Yamada G, et al. AVAQ 594-597 deletion of the TfR2 gene in a Japanese family with hemochromatosis. Hepatol Res 2003; 26: 154156.
  • 44
    Kawabata H, Nakamaki T, Ikonomi P, Smith RD, Germain RS, Koeffler HP. Expression of transferrin receptor 2 in normal and neoplastic hematopoietic cells. Blood 2001; 98: 27142719.
  • 45
    Cairo G, Pietrangelo A. Iron regulatory proteins in pathobiology. Biochem J 2000; 352: 241250.
  • 46
    Kawabata H, Germain RS, Vuong PT, Nakamaki T, Said JW, Koeffler HP. Transferrin receptor 2-α supports cell growth both in iron-chelated cultured cells and in vivo. J Biol Chem 2000; 275: 1661816625.
  • 47
    Trinder D, Baker E. Transferrin receptor 2: a new molecule in iron metabolism. Int J Biochem Cell Biol 2003; 35: 292296.
  • 48
    West AP Jr, Bennett MJ, Sellers VM, Andrews NC, Enns CA, Bjorkman PJ. Comparison of the interactions of transferrin receptor and transferrin receptor 2 with transferrin and the hereditary hemochromatosis protein HFE. J Biol Chem 2000; 275: 3813538138.
  • 49
    Richardson DR, Baker E. Two saturable mechanisms of iron uptake from transferrin in human melanoma cells: the effect of transferrin concentration, chelators, and metabolic probes on transferrin and iron uptake. J Cell Physiol 1994; 161: 160168.
  • 50
    Fleming RE, Ahmann JR, Migas MC, Waheed A, Koeffler HP, Kawabata H, Britton RS, et al. Targeted mutagenesis of the murine transferrin receptor-2 gene produces hemochromatosis. Proc Natl Acad Sci U S A 2002; 99: 1065310658.
  • 51
    Fleming RE, Migas MC, Holden CC, Waheed A, Britton RS, Tomatsu S, Bacon BR, et al. Transferrin receptor 2: continued expression in mouse liver in the face of iron overload and in hereditary hemochromatosis. Proc Natl Acad Sci U S A 2000; 97: 22142219.
  • 52
    Pietrangelo A. Physiology of iron transport and the hemochromatosis gene. Am J Physiol Gastrointest Liver Physiol 2002; 282: G403G414.
  • 53
    Griffiths WJ, Cox TM. 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: 613624.
  • 54
    Girelli D, Bozzini C, Roetto A, Alberti F, Daraio F, Colombari R, Olivieri O, et al. Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene. Gastroenterology 2002; 122: 12951302.
  • 55
    Lamon JM, Marynick SP, Roseblatt R, Donnelly S. Idiopathic hemochromatosis in a young female. A case study and review of the syndrome in young people. Gastroenterology 1979; 76: 178183.
  • 56
    Roetto A, Papanikolaou G, Politou M, Alberti F, Girelli D, Christakis J, Loukopoulos D, et al. Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. Nat Genet 2003; 33: 2122.
  • 57
    Roetto A, Totaro A, Cazzola M, Cicilano M, Bosio S, D'Ascola G, Carella M, et al. Juvenile hemochromatosis locus maps to chromosome 1q. Am J Hum Genet 1999; 64: 13881393.
  • 58
    Papanikolaou G, Ludwig EH, Andres L, MacFarlene J, et al. Mutations in HFE 2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. Nat Genet (In press).
  • 59
    Krause A, Neitz S, Magert HJ, Schulz A, Forssmann WG, Schulz-Knappe P, Adermann K. LEAP-1, a novel highly disulfide-bonded human peptide, exhibits antimicrobial activity. FEBS Lett 2000; 480: 147150.
  • 60
    Park CH, Valore EV, Waring AJ, Ganz T. Hepcidin, a urinary antimicrobial peptide synthesized in the liver. J Biol Chem 2001; 276: 78067810.
  • 61
    Pigeon C, Ilyin G, Courselaud B, Leroyer P, Turlin B, Brissot P, Loreal O. 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.
  • 62
    Nicolas G, Bennoun M, Devaux I, Beaumont C, Grandchamp B, Kahn A, Vaulont S. Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice. Proc Natl Acad Sci U S A 2001; 98: 87808785.
  • 63
    Courselaud B, Pigeon C, Inoue Y, Inoue J, Gonzalez FJ, Leroyer P, Gilot D, et al. C/EBPα regulates hepatic transcription of hepcidin, an antimicrobial peptide and regulator of iron metabolism. Cross-talk between C/EBP pathway and iron metabolism. J Biol Chem 2002; 277: 4116341170.
  • 64
    Nicolas G, Bennoun M, Porteu A, Mativet S, Beaumont C, Grandchamp B, Sirito M, et al. Severe iron deficiency anemia in transgenic mice expressing liver hepcidin. Proc Natl Acad Sci U S A 2002; 99: 45964601.
  • 65
    Nicolas G, Chauvet C, Viatte L, Danan JL, Bigard X, Devaux I, Beaumont C, et al. The gene encoding the iron regulatory peptide hepcidin is regulated by anemia, hypoxia, and inflammation. J Clin Invest 2002; 110: 10371044.
  • 66
    Bridle KR, Frazer DM, Wilkins SJ, Dixon JL, Purdie DM, Crawford DH, Subramaniam VN, et al. Disrupted hepcidin regulation in HFE-associated haemochromatosis and the liver as a regulator of body iron homoeostasis. Lancet 2003; 361: 669673.
  • 67
    Gehrke SG, Kulaksiz H, Herrmann T, Riedel HD, Bents K, Veltkamp C, Stremmel W. Expression of hepcidin in hereditary hemochromatosis: evidence for a regulation in response to serum transferrin saturation and non-transferrin-bound iron. Blood 2003; 102: 371376.
  • 68
    Nicolas G, Viatte L, Lou DQ, Bennoun M, Beaumont C, Kahn A, Andrews NC, et al. Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis. Nat Genet 2003; 34: 97101.
  • 69
    Cazzola M, Ascari E, Barosi G, Claudiani G, Dacco M, Kaltwasser JP, Panaiotopoulos N, et al. Juvenile idiopathic haemochromatosis: a life-threatening disorder presenting as hypogonadotropic hypogonadism. Hum Genet 1983; 65: 149154.
  • 70
    Rivard SR, Mura C, Simard H, Simard R, Grimard D, Le Gac G, Raguenes O, et al. Clinical and molecular aspects of juvenile hemochromatosis in Saguenay-Lac-Saint-Jean (Quebec, Canada). Blood Cell Mol Dis 2000; 26: 1014.
  • 71
    De Gobbi M, Roetto A, Piperno A, Mariani R, Alberti F, Papanikolaou G, Politou M, et al. Natural history of juvenile haemochromatosis. Br J Haematol 2002; 117: 973979.
  • 72
    Gordeuk VR, Caleffi A, Corradini E, Ferrara F, Jones RA, Castro O, Onyekwere O, et al. Iron overload in Africans and African-Americans and a common mutation in the scl40a1 (ferroportin 1) gene. Blood Cell Mol Dis 2003; 31: 299304.