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Volumn 95, Issue 1, 2015, Pages 12-25

Update on iron metabolism and molecular perspective of common genetic and acquired disorder, hemochromatosis

Author keywords

Bone morphogenetic protein; Erythroferrone; Ferroportin; Hemochromatosis; Hepcidin; Iron metabolism

Indexed keywords

BONE MORPHOGENETIC PROTEIN; ERYTHROPOIETIN; FERROPORTIN; HEMOJUVELIN; HEPCIDIN; HYPOXIA INDUCIBLE FACTOR; IRON; IRON CHELATING AGENT; IRON RESPONSE PROTEIN DERIVATIVE; JANUS KINASE; PROTEIN DERIVATIVE; SMAD PROTEIN; STAT3 PROTEIN; UNCLASSIFIED DRUG; VON HIPPEL LINDAU PROTEIN; CATION TRANSPORT PROTEIN; METAL TRANSPORTING PROTEIN 1;

EID: 84930822337     PISSN: 10408428     EISSN: 18790461     Source Type: Journal    
DOI: 10.1016/j.critrevonc.2015.02.006     Document Type: Review
Times cited : (30)

References (133)
  • 1
    • 0034719973 scopus 로고    scopus 로고
    • Disorders of iron metabolism
    • (author reply 1294)
    • Andrews P.A. Disorders of iron metabolism. N Engl J Med 2000, 342(17):1293. (author reply 1294).
    • (2000) N Engl J Med , vol.342 , Issue.17 , pp. 1293
    • Andrews, P.A.1
  • 2
    • 79955958017 scopus 로고    scopus 로고
    • Hepcidin and iron regulation 10 years later
    • Ganz T. Hepcidin and iron regulation 10 years later. Blood 2011, 117(17):4425-4433.
    • (2011) Blood , vol.117 , Issue.17 , pp. 4425-4433
    • Ganz, T.1
  • 3
    • 2042546096 scopus 로고    scopus 로고
    • Balancing acts: molecular control of mammalian iron metabolism
    • Hentze M.W., Muckenthaler M.U., Andrews N.C. Balancing acts: molecular control of mammalian iron metabolism. Cell 2004, 117(3):285-297.
    • (2004) Cell , vol.117 , Issue.3 , pp. 285-297
    • Hentze, M.W.1    Muckenthaler, M.U.2    Andrews, N.C.3
  • 4
    • 13544254423 scopus 로고    scopus 로고
    • Transferrin: structure, function and potential therapeutic actions
    • Gomme P.T., McCann K.B., Bertolini J. Transferrin: structure, function and potential therapeutic actions. Drug Discovery Today 2005, 10(4):267-273.
    • (2005) Drug Discovery Today , vol.10 , Issue.4 , pp. 267-273
    • Gomme, P.T.1    McCann, K.B.2    Bertolini, J.3
  • 5
    • 33747641642 scopus 로고    scopus 로고
    • The crystal structure of iron-free human serum transferrin provides insight into inter-lobe communication and receptor binding
    • Wally J., Halbrooks P.J., Vonrhein C., et al. The crystal structure of iron-free human serum transferrin provides insight into inter-lobe communication and receptor binding. J Biol Chem 2006, 281(34):24934-24944.
    • (2006) J Biol Chem , vol.281 , Issue.34 , pp. 24934-24944
    • Wally, J.1    Halbrooks, P.J.2    Vonrhein, C.3
  • 6
    • 28944449228 scopus 로고    scopus 로고
    • Single particle reconstruction of the human apo-transferrin-transferrin receptor complex
    • Cheng Y., Zak O., Aisen P., Harrison S.C., Walz T. Single particle reconstruction of the human apo-transferrin-transferrin receptor complex. J Struct Biol 2005, 152(3):204-210.
    • (2005) J Struct Biol , vol.152 , Issue.3 , pp. 204-210
    • Cheng, Y.1    Zak, O.2    Aisen, P.3    Harrison, S.C.4    Walz, T.5
  • 7
    • 1342264310 scopus 로고    scopus 로고
    • Structure of the human transferrin receptor-transferrin complex
    • Cheng Y., Zak O., Aisen P., Harrison S.C., Walz T. Structure of the human transferrin receptor-transferrin complex. Cell 2004, 116(4):565-576.
    • (2004) Cell , vol.116 , Issue.4 , pp. 565-576
    • Cheng, Y.1    Zak, O.2    Aisen, P.3    Harrison, S.C.4    Walz, T.5
  • 8
    • 0030763856 scopus 로고    scopus 로고
    • Microcytic anaemia mice have a mutation in Nramp2, a candidate iron transporter gene
    • Fleming M.D., Trenor C.C., Su M.A., et al. Microcytic anaemia mice have a mutation in Nramp2, a candidate iron transporter gene. Nat Genet 1997, 16(4):383-386.
    • (1997) Nat Genet , vol.16 , Issue.4 , pp. 383-386
    • Fleming, M.D.1    Trenor, C.C.2    Su, M.A.3
  • 9
    • 0032477866 scopus 로고    scopus 로고
    • Nramp2 is mutated in the anemic Belgrade (b) rat: evidence of a role for Nramp2 in endosomal iron F transport
    • Fleming M.D., Romano M.A., Su M.A., Garrick L.M., Garrick M.D., Andrews N.C. Nramp2 is mutated in the anemic Belgrade (b) rat: evidence of a role for Nramp2 in endosomal iron F transport. Proc Natl Acad Sci USA 1998, 95(3):1148-1153.
    • (1998) Proc Natl Acad Sci USA , vol.95 , Issue.3 , pp. 1148-1153
    • Fleming, M.D.1    Romano, M.A.2    Su, M.A.3    Garrick, L.M.4    Garrick, M.D.5    Andrews, N.C.6
  • 10
    • 0035843134 scopus 로고    scopus 로고
    • Identification of the haemoglobin scavenger receptor
    • Kristiansen M., Graversen J.H., Jacobsen C., et al. Identification of the haemoglobin scavenger receptor. Nature 2001, 409(6817):198-201.
    • (2001) Nature , vol.409 , Issue.6817 , pp. 198-201
    • Kristiansen, M.1    Graversen, J.H.2    Jacobsen, C.3
  • 11
    • 0035793856 scopus 로고    scopus 로고
    • An iron-regulated ferric reductase associated with the absorption of dietary iron
    • McKie A.T., Barrow D., Latunde-Dada G.O., et al. An iron-regulated ferric reductase associated with the absorption of dietary iron. Science 2001, 291(5509):1755-1759.
    • (2001) Science , vol.291 , Issue.5509 , pp. 1755-1759
    • McKie, A.T.1    Barrow, D.2    Latunde-Dada, G.O.3
  • 12
    • 0037093202 scopus 로고    scopus 로고
    • Regulation of ferritin genes and protein
    • Torti F.M., Torti S.V. Regulation of ferritin genes and protein. Blood 2002, 99(10):3505-3516.
    • (2002) Blood , vol.99 , Issue.10 , pp. 3505-3516
    • Torti, F.M.1    Torti, S.V.2
  • 13
    • 0041672570 scopus 로고    scopus 로고
    • Hepcidin, a key regulator of iron metabolism and mediator of anemia of inflammation
    • Ganz T. Hepcidin, a key regulator of iron metabolism and mediator of anemia of inflammation. Blood 2003, 102(3):783-788.
    • (2003) Blood , vol.102 , Issue.3 , pp. 783-788
    • Ganz, T.1
  • 14
    • 84855856999 scopus 로고    scopus 로고
    • Deletion of HIF-2α in the enterocytes decreases the severity of tissue iron loading in hepcidin knockout mice
    • Mastrogiannaki M., Matak P., Delga S., Deschemin J.C., Vaulont S., Peyssonnaux C. Deletion of HIF-2α in the enterocytes decreases the severity of tissue iron loading in hepcidin knockout mice. Blood 2012, 119(2):587-590.
    • (2012) Blood , vol.119 , Issue.2 , pp. 587-590
    • Mastrogiannaki, M.1    Matak, P.2    Delga, S.3    Deschemin, J.C.4    Vaulont, S.5    Peyssonnaux, C.6
  • 15
    • 84862148400 scopus 로고    scopus 로고
    • Hepatic hypoxia-inducible factor-2 down-regulates hepcidin expression in mice through an erythropoietin-mediated increase in erythropoiesis
    • Mastrogiannaki M., Matak P., Mathieu J.R., et al. Hepatic hypoxia-inducible factor-2 down-regulates hepcidin expression in mice through an erythropoietin-mediated increase in erythropoiesis. Haematologica 2012, 97(6):827-834.
    • (2012) Haematologica , vol.97 , Issue.6 , pp. 827-834
    • Mastrogiannaki, M.1    Matak, P.2    Mathieu, J.R.3
  • 17
    • 33845245942 scopus 로고    scopus 로고
    • Suppression of hepcidin during anemia requires erythropoietic activity
    • Pak M., Lopez M.A., Gabayan V., Ganz T., Rivera S. Suppression of hepcidin during anemia requires erythropoietic activity. Blood 2006, 108(12):3730-3735.
    • (2006) Blood , vol.108 , Issue.12 , pp. 3730-3735
    • Pak, M.1    Lopez, M.A.2    Gabayan, V.3    Ganz, T.4    Rivera, S.5
  • 18
    • 84883684492 scopus 로고    scopus 로고
    • Transfusion suppresses erythropoiesis and increases hepcidin in adult patients with β-thalassemia major: a longitudinal study
    • Pasricha S.R., Frazer D.M., Bowden D.K., Anderson G.J. Transfusion suppresses erythropoiesis and increases hepcidin in adult patients with β-thalassemia major: a longitudinal study. Blood 2013, 122(1):124-133.
    • (2013) Blood , vol.122 , Issue.1 , pp. 124-133
    • Pasricha, S.R.1    Frazer, D.M.2    Bowden, D.K.3    Anderson, G.J.4
  • 19
    • 84870566647 scopus 로고    scopus 로고
    • Hypoxia-inducible factor regulates hepcidin via erythropoietin-induced erythropoiesis
    • Liu Q., Davidoff O., Niss K., Haase V.H. Hypoxia-inducible factor regulates hepcidin via erythropoietin-induced erythropoiesis. J Clin Invest 2012, 122(12):4635-4644.
    • (2012) J Clin Invest , vol.122 , Issue.12 , pp. 4635-4644
    • Liu, Q.1    Davidoff, O.2    Niss, K.3    Haase, V.H.4
  • 20
    • 80054101329 scopus 로고    scopus 로고
    • Perturbation of hepcidin expression by BMP type I receptor deletion induces iron overload in mice
    • Steinbicker A.U., Bartnikas T.B., Lohmeyer L.K., et al. Perturbation of hepcidin expression by BMP type I receptor deletion induces iron overload in mice. Blood 2011, 118(15):4224-4230.
    • (2011) Blood , vol.118 , Issue.15 , pp. 4224-4230
    • Steinbicker, A.U.1    Bartnikas, T.B.2    Lohmeyer, L.K.3
  • 21
    • 84902105343 scopus 로고    scopus 로고
    • The type I BMP receptor Alk3 is required for the induction of hepatic hepcidin gene expression by interleukin-6
    • Mayeur C., Lohmeyer L.K., Leyton P., et al. The type I BMP receptor Alk3 is required for the induction of hepatic hepcidin gene expression by interleukin-6. Blood 2014, 123(14):2261-2268.
    • (2014) Blood , vol.123 , Issue.14 , pp. 2261-2268
    • Mayeur, C.1    Lohmeyer, L.K.2    Leyton, P.3
  • 22
    • 34548825938 scopus 로고    scopus 로고
    • Iron transferrin regulates hepcidin synthesis in primary hepatocyte culture through hemojuvelin and BMP2/4
    • Lin L., Valore E.V., Nemeth E., Goodnough J.B., Gabayan V., Ganz T. Iron transferrin regulates hepcidin synthesis in primary hepatocyte culture through hemojuvelin and BMP2/4. Blood 2007, 110(6):2182-2189.
    • (2007) Blood , vol.110 , Issue.6 , pp. 2182-2189
    • Lin, L.1    Valore, E.V.2    Nemeth, E.3    Goodnough, J.B.4    Gabayan, V.5    Ganz, T.6
  • 23
    • 79955980950 scopus 로고    scopus 로고
    • Inhibition of bone morphogenetic protein signaling attenuates anemia associated with inflammation
    • Steinbicker A.U., Sachidanandan C., Vonner A.J., et al. Inhibition of bone morphogenetic protein signaling attenuates anemia associated with inflammation. Blood 2011, 117(18):4915-4923.
    • (2011) Blood , vol.117 , Issue.18 , pp. 4915-4923
    • Steinbicker, A.U.1    Sachidanandan, C.2    Vonner, A.J.3
  • 24
    • 0035896581 scopus 로고    scopus 로고
    • A new mouse liver-specific gene, encoding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during iron overload
    • Pigeon C., Ilyin G., Courselaud B., et al. 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(11):7811-7819.
    • (2001) J Biol Chem , vol.276 , Issue.11 , pp. 7811-7819
    • Pigeon, C.1    Ilyin, G.2    Courselaud, B.3
  • 25
    • 0036727925 scopus 로고    scopus 로고
    • Hepcidin expression inversely correlates with the expression of duodenal iron transporters and iron absorption in rats
    • Frazer D.M., Wilkins S.J., Becker E.M., et al. Hepcidin expression inversely correlates with the expression of duodenal iron transporters and iron absorption in rats. Gastroenterology 2002, 123(3):835-844.
    • (2002) Gastroenterology , vol.123 , Issue.3 , pp. 835-844
    • Frazer, D.M.1    Wilkins, S.J.2    Becker, E.M.3
  • 26
    • 0035902605 scopus 로고    scopus 로고
    • Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice
    • Nicolas G., Bennoun M., Devaux I., et al. Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice. Proc Natl Acad Sci USA 2001, 98(15):8780-8785.
    • (2001) Proc Natl Acad Sci USA , vol.98 , Issue.15 , pp. 8780-8785
    • Nicolas, G.1    Bennoun, M.2    Devaux, I.3
  • 27
    • 0037007064 scopus 로고    scopus 로고
    • Severe iron deficiency anemia in transgenic mice expressing liver hepcidin
    • Nicolas G., Bennoun M., Porteu A., et al. Severe iron deficiency anemia in transgenic mice expressing liver hepcidin. Proc Natl Acad Sci USA 2002, 99(7):4596-4601.
    • (2002) Proc Natl Acad Sci USA , vol.99 , Issue.7 , pp. 4596-4601
    • Nicolas, G.1    Bennoun, M.2    Porteu, A.3
  • 29
    • 63449103712 scopus 로고    scopus 로고
    • BMP6 is a key endogenous regulator of hepcidin expression and iron metabolism
    • Andriopoulos B., Corradini E., Xia Y., et al. BMP6 is a key endogenous regulator of hepcidin expression and iron metabolism. Nat Genet 2009, 41(4):482-487.
    • (2009) Nat Genet , vol.41 , Issue.4 , pp. 482-487
    • Andriopoulos, B.1    Corradini, E.2    Xia, Y.3
  • 30
    • 33646370235 scopus 로고    scopus 로고
    • Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression
    • Babitt J.L., Huang F.W., Wrighting D.M., et al. Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression. Nat Genet 2006, 38(5):531-539.
    • (2006) Nat Genet , vol.38 , Issue.5 , pp. 531-539
    • Babitt, J.L.1    Huang, F.W.2    Wrighting, D.M.3
  • 31
    • 10844258104 scopus 로고    scopus 로고
    • Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization
    • Nemeth E., Tuttle M.S., Powelson J., et al. Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization. Science 2004, 306(5704):2090-2093.
    • (2004) Science , vol.306 , Issue.5704 , pp. 2090-2093
    • Nemeth, E.1    Tuttle, M.S.2    Powelson, J.3
  • 32
    • 84862002810 scopus 로고    scopus 로고
    • Hepcidin-induced endocytosis of ferroportin is dependent on ferroportin ubiquitination
    • Qiao B., Sugianto P., Fung E., et al. Hepcidin-induced endocytosis of ferroportin is dependent on ferroportin ubiquitination. Cell Metab 2012, 15(6):918-924.
    • (2012) Cell Metab , vol.15 , Issue.6 , pp. 918-924
    • Qiao, B.1    Sugianto, P.2    Fung, E.3
  • 33
    • 34447137331 scopus 로고    scopus 로고
    • Modulation of bone morphogenetic protein signaling in vivo regulates systemic iron balance
    • Babitt J.L., Huang F.W., Xia Y., Sidis Y., Andrews N.C., Lin H.Y. Modulation of bone morphogenetic protein signaling in vivo regulates systemic iron balance. J Clin Invest 2007, 117(7):1933-1939.
    • (2007) J Clin Invest , vol.117 , Issue.7 , pp. 1933-1939
    • Babitt, J.L.1    Huang, F.W.2    Xia, Y.3    Sidis, Y.4    Andrews, N.C.5    Lin, H.Y.6
  • 34
    • 33644876815 scopus 로고    scopus 로고
    • A role of SMAD4 in iron metabolism through the positive regulation of hepcidin expression
    • Wang R.H., Li C., Xu X., et al. A role of SMAD4 in iron metabolism through the positive regulation of hepcidin expression. Cell Metab 2005, 2(6):399-409.
    • (2005) Cell Metab , vol.2 , Issue.6 , pp. 399-409
    • Wang, R.H.1    Li, C.2    Xu, X.3
  • 35
    • 23644444316 scopus 로고    scopus 로고
    • Hemojuvelin is essential for dietary iron sensing, and its mutation leads to severe iron overload
    • Niederkofler V., Salie R., Arber S. Hemojuvelin is essential for dietary iron sensing, and its mutation leads to severe iron overload. J Clin Invest 2005, 115(8):2180-2186.
    • (2005) J Clin Invest , vol.115 , Issue.8 , pp. 2180-2186
    • Niederkofler, V.1    Salie, R.2    Arber, S.3
  • 36
    • 0033358675 scopus 로고    scopus 로고
    • Juvenile hemochromatosis locus maps to chromosome 1q
    • Roetto A., Totaro A., Cazzola M., et al. Juvenile hemochromatosis locus maps to chromosome 1q. Am J Hum Genet 1999, 64(5):1388-1393.
    • (1999) Am J Hum Genet , vol.64 , Issue.5 , pp. 1388-1393
    • Roetto, A.1    Totaro, A.2    Cazzola, M.3
  • 37
    • 60649103774 scopus 로고    scopus 로고
    • Interaction of the hereditary hemochromatosis protein HFE with transferrin receptor 2 is required for transferrin-induced hepcidin expression
    • Gao J., Chen J., Kramer M., Tsukamoto H., Zhang A.S., Enns C.A. Interaction of the hereditary hemochromatosis protein HFE with transferrin receptor 2 is required for transferrin-induced hepcidin expression. Cell Metab 2009, 9(3):217-227.
    • (2009) Cell Metab , vol.9 , Issue.3 , pp. 217-227
    • Gao, J.1    Chen, J.2    Kramer, M.3    Tsukamoto, H.4    Zhang, A.S.5    Enns, C.A.6
  • 38
    • 0037460697 scopus 로고    scopus 로고
    • Disrupted hepcidin regulation in HFE-associated haemochromatosis and the liver as a regulator of body iron homoeostasis
    • Bridle K.R., Frazer D.M., Wilkins S.J., et al. Disrupted hepcidin regulation in HFE-associated haemochromatosis and the liver as a regulator of body iron homoeostasis. Lancet 2003, 361(9358):669-673.
    • (2003) Lancet , vol.361 , Issue.9358 , pp. 669-673
    • Bridle, K.R.1    Frazer, D.M.2    Wilkins, S.J.3
  • 39
    • 0344085880 scopus 로고    scopus 로고
    • Duodenal metal-transporter (DMT-1, NRAMP-2) expression in patients with hereditary haemochromatosis
    • Zoller H., Pietrangelo A., Vogel W., Weiss G. Duodenal metal-transporter (DMT-1, NRAMP-2) expression in patients with hereditary haemochromatosis. Lancet 1999, 353(9170):2120-2123.
    • (1999) Lancet , vol.353 , Issue.9170 , pp. 2120-2123
    • Zoller, H.1    Pietrangelo, A.2    Vogel, W.3    Weiss, G.4
  • 40
    • 0037847496 scopus 로고    scopus 로고
    • Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis
    • Nicolas G., Viatte L., Lou D.Q., et al. Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis. Nat Genet 2003, 34(1):97-101.
    • (2003) Nat Genet , vol.34 , Issue.1 , pp. 97-101
    • Nicolas, G.1    Viatte, L.2    Lou, D.Q.3
  • 41
    • 0037509928 scopus 로고    scopus 로고
    • Regulatory defects in liver and intestine implicate abnormal hepcidin and Cybrd1 expression in mouse hemochromatosis
    • Muckenthaler M., Roy C.N., Custodio A.O., et al. Regulatory defects in liver and intestine implicate abnormal hepcidin and Cybrd1 expression in mouse hemochromatosis. Nat Genet 2003, 34(1):102-107.
    • (2003) Nat Genet , vol.34 , Issue.1 , pp. 102-107
    • Muckenthaler, M.1    Roy, C.N.2    Custodio, A.O.3
  • 42
    • 0038312385 scopus 로고    scopus 로고
    • Decreased liver hepcidin expression in the Hfe knockout mouse
    • Ahmad K.A., Ahmann J.R., Migas M.C., et al. Decreased liver hepcidin expression in the Hfe knockout mouse. Blood Cells Mol Dis 2002, 29(3):361-366.
    • (2002) Blood Cells Mol Dis , vol.29 , Issue.3 , pp. 361-366
    • Ahmad, K.A.1    Ahmann, J.R.2    Migas, M.C.3
  • 43
    • 70350494274 scopus 로고    scopus 로고
    • BMP/Smad signaling is not enhanced in Hfe-deficient mice despite increased Bmp6 expression
    • Kautz L., Meynard D., Besson-Fournier C., et al. BMP/Smad signaling is not enhanced in Hfe-deficient mice despite increased Bmp6 expression. Blood 2009, 114(12):2515-2520.
    • (2009) Blood , vol.114 , Issue.12 , pp. 2515-2520
    • Kautz, L.1    Meynard, D.2    Besson-Fournier, C.3
  • 44
    • 19944427107 scopus 로고    scopus 로고
    • Expression of hepcidin is down-regulated in TfR2 mutant mice manifesting a phenotype of hereditary hemochromatosis
    • Kawabata H., Fleming R.E., Gui D., et al. Expression of hepcidin is down-regulated in TfR2 mutant mice manifesting a phenotype of hereditary hemochromatosis. Blood 2005, 105(1):376-381.
    • (2005) Blood , vol.105 , Issue.1 , pp. 376-381
    • Kawabata, H.1    Fleming, R.E.2    Gui, D.3
  • 45
    • 84904865496 scopus 로고    scopus 로고
    • Molecular liaisons between erythropoiesis and iron metabolism
    • Kautz L., Nemeth E. Molecular liaisons between erythropoiesis and iron metabolism. Blood 2014, 124(4):479-482.
    • (2014) Blood , vol.124 , Issue.4 , pp. 479-482
    • Kautz, L.1    Nemeth, E.2
  • 46
    • 77958177671 scopus 로고    scopus 로고
    • Hepatic HIF-2 regulates erythropoietic responses to hypoxia in renal anemia
    • Kapitsinou P.P., Liu Q., Unger T.L., et al. Hepatic HIF-2 regulates erythropoietic responses to hypoxia in renal anemia. Blood 2010, 116(16):3039-3048.
    • (2010) Blood , vol.116 , Issue.16 , pp. 3039-3048
    • Kapitsinou, P.P.1    Liu, Q.2    Unger, T.L.3
  • 47
    • 84872134149 scopus 로고    scopus 로고
    • Regulation of erythropoiesis by hypoxia-inducible factors
    • Haase V.H. Regulation of erythropoiesis by hypoxia-inducible factors. Blood Rev 2013, 27(1):41-53.
    • (2013) Blood Rev , vol.27 , Issue.1 , pp. 41-53
    • Haase, V.H.1
  • 48
    • 0036791486 scopus 로고    scopus 로고
    • The gene encoding the iron regulatory peptide hepcidin is regulated by anemia, hypoxia, and inflammation
    • Nicolas G., Chauvet C., Viatte L., et al. The gene encoding the iron regulatory peptide hepcidin is regulated by anemia, hypoxia, and inflammation. J Clin Invest 2002, 110(7):1037-1044.
    • (2002) J Clin Invest , vol.110 , Issue.7 , pp. 1037-1044
    • Nicolas, G.1    Chauvet, C.2    Viatte, L.3
  • 49
    • 34249658982 scopus 로고    scopus 로고
    • Ineffective erythropoiesis in beta-thalassemia is characterized by increased iron absorption mediated by down-regulation of hepcidin and up-regulation of ferroportin
    • Gardenghi S., Marongiu M.F., Ramos P., et al. Ineffective erythropoiesis in beta-thalassemia is characterized by increased iron absorption mediated by down-regulation of hepcidin and up-regulation of ferroportin. Blood 2007, 109(11):5027-5035.
    • (2007) Blood , vol.109 , Issue.11 , pp. 5027-5035
    • Gardenghi, S.1    Marongiu, M.F.2    Ramos, P.3
  • 50
    • 34447306076 scopus 로고    scopus 로고
    • Liver iron concentrations and urinary hepcidin in beta-thalassemia
    • Origa R., Galanello R., Ganz T., et al. Liver iron concentrations and urinary hepcidin in beta-thalassemia. Haematologica 2007, 92(5):583-588.
    • (2007) Haematologica , vol.92 , Issue.5 , pp. 583-588
    • Origa, R.1    Galanello, R.2    Ganz, T.3
  • 51
    • 34347389655 scopus 로고    scopus 로고
    • Iron homeostasis during transfusional iron overload in beta-thalassemia and sickle cell disease: changes in iron regulatory protein, hepcidin, and ferritin expression
    • Jenkins Z.A., Hagar W., Bowlus C.L., et al. Iron homeostasis during transfusional iron overload in beta-thalassemia and sickle cell disease: changes in iron regulatory protein, hepcidin, and ferritin expression. Pediatr Hematol Oncol 2007, 24(4):237-243.
    • (2007) Pediatr Hematol Oncol , vol.24 , Issue.4 , pp. 237-243
    • Jenkins, Z.A.1    Hagar, W.2    Bowlus, C.L.3
  • 52
    • 33745755350 scopus 로고    scopus 로고
    • The effects of erythropoetic activity and iron burden on hepcidin expression in patients with thalassemia major
    • Kattamis A., Papassotiriou I., Palaiologou D., et al. The effects of erythropoetic activity and iron burden on hepcidin expression in patients with thalassemia major. Haematologica 2006, 91(6):809-812.
    • (2006) Haematologica , vol.91 , Issue.6 , pp. 809-812
    • Kattamis, A.1    Papassotiriou, I.2    Palaiologou, D.3
  • 53
    • 34948904750 scopus 로고    scopus 로고
    • High levels of GDF15 in thalassemia suppress expression of the iron regulatory protein hepcidin
    • Tanno T., Bhanu N.V., Oneal P.A., et al. High levels of GDF15 in thalassemia suppress expression of the iron regulatory protein hepcidin. Nat Med 2007, 13(9):1096-1101.
    • (2007) Nat Med , vol.13 , Issue.9 , pp. 1096-1101
    • Tanno, T.1    Bhanu, N.V.2    Oneal, P.A.3
  • 54
    • 67651043722 scopus 로고    scopus 로고
    • Identification of TWSG1 as a second novel erythroid regulator of hepcidin expression in murine and human cells
    • Tanno T., Porayette P., Sripichai O., et al. Identification of TWSG1 as a second novel erythroid regulator of hepcidin expression in murine and human cells. Blood 2009, 114(1):181-186.
    • (2009) Blood , vol.114 , Issue.1 , pp. 181-186
    • Tanno, T.1    Porayette, P.2    Sripichai, O.3
  • 55
    • 79960384701 scopus 로고    scopus 로고
    • Erythropoietin, GDF15, IL6, hepcidin and testosterone levels in a large cohort of elderly individuals with anaemia of known and unknown cause
    • Waalen J., von Löhneysen K., Lee P., Xu X., Friedman J.S. Erythropoietin, GDF15, IL6, hepcidin and testosterone levels in a large cohort of elderly individuals with anaemia of known and unknown cause. Eur J Haematol 2011, 87(2):107-116.
    • (2011) Eur J Haematol , vol.87 , Issue.2 , pp. 107-116
    • Waalen, J.1    von Löhneysen, K.2    Lee, P.3    Xu, X.4    Friedman, J.S.5
  • 56
    • 84871223663 scopus 로고    scopus 로고
    • The murine growth differentiation factor 15 is not essential for systemic iron homeostasis in phlebotomized mice
    • Casanovas G., Vujić Spasic M., Casu C., et al. The murine growth differentiation factor 15 is not essential for systemic iron homeostasis in phlebotomized mice. Haematologica 2013, 98(3):444-447.
    • (2013) Haematologica , vol.98 , Issue.3 , pp. 444-447
    • Casanovas, G.1    Vujić Spasic, M.2    Casu, C.3
  • 57
    • 84903578007 scopus 로고    scopus 로고
    • Identification of erythroferrone as an erythroid regulator of iron metabolism
    • Kautz L., Jung G., Valore E.V., Rivella S., Nemeth E., Ganz T. Identification of erythroferrone as an erythroid regulator of iron metabolism. Nat Genet 2014, 46(7):678-684.
    • (2014) Nat Genet , vol.46 , Issue.7 , pp. 678-684
    • Kautz, L.1    Jung, G.2    Valore, E.V.3    Rivella, S.4    Nemeth, E.5    Ganz, T.6
  • 58
    • 14744278436 scopus 로고    scopus 로고
    • Anemia of chronic disease
    • Weiss G., Goodnough L.T. Anemia of chronic disease. N Engl J Med 2005, 352(10):1011-1023.
    • (2005) N Engl J Med , vol.352 , Issue.10 , pp. 1011-1023
    • Weiss, G.1    Goodnough, L.T.2
  • 59
    • 0037131264 scopus 로고    scopus 로고
    • Regulation of reticuloendothelial iron transporter MTP1 (Slc11a3) by inflammation
    • Yang F., Liu X.B., Quinones M., Melby P.C., Ghio A., Haile D.J. Regulation of reticuloendothelial iron transporter MTP1 (Slc11a3) by inflammation. J Biol Chem 2002, 277(42):39786-39791.
    • (2002) J Biol Chem , vol.277 , Issue.42 , pp. 39786-39791
    • Yang, F.1    Liu, X.B.2    Quinones, M.3    Melby, P.C.4    Ghio, A.5    Haile, D.J.6
  • 60
    • 0037926880 scopus 로고    scopus 로고
    • Cytokine-mediated regulation of iron transport in human monocytic cells
    • Ludwiczek S., Aigner E., Theurl I., Weiss G. Cytokine-mediated regulation of iron transport in human monocytic cells. Blood 2003, 101(10):4148-4154.
    • (2003) Blood , vol.101 , Issue.10 , pp. 4148-4154
    • Ludwiczek, S.1    Aigner, E.2    Theurl, I.3    Weiss, G.4
  • 61
    • 0038662619 scopus 로고    scopus 로고
    • Hepcidin, a putative mediator of anemia of inflammation, is a type II acute-phase protein
    • Nemeth E., Valore E.V., Territo M., Schiller G., Lichtenstein A., Ganz T. Hepcidin, a putative mediator of anemia of inflammation, is a type II acute-phase protein. Blood 2003, 101(7):2461-2463.
    • (2003) Blood , vol.101 , Issue.7 , pp. 2461-2463
    • Nemeth, E.1    Valore, E.V.2    Territo, M.3    Schiller, G.4    Lichtenstein, A.5    Ganz, T.6
  • 62
    • 33846212344 scopus 로고    scopus 로고
    • STAT3 is required for IL-6-gp130-dependent activation of hepcidin in vivo
    • Pietrangelo A., Dierssen U., Valli L., et al. STAT3 is required for IL-6-gp130-dependent activation of hepcidin in vivo. Gastroenterology 2007, 132(1):294-300.
    • (2007) Gastroenterology , vol.132 , Issue.1 , pp. 294-300
    • Pietrangelo, A.1    Dierssen, U.2    Valli, L.3
  • 63
    • 77949266494 scopus 로고    scopus 로고
    • STAT3 signaling within hepatocytes is required for anemia of inflammation in vivo
    • Sakamori R., Takehara T., Tatsumi T., et al. STAT3 signaling within hepatocytes is required for anemia of inflammation in vivo. J Gastroenterol 2010, 45(2):244-248.
    • (2010) J Gastroenterol , vol.45 , Issue.2 , pp. 244-248
    • Sakamori, R.1    Takehara, T.2    Tatsumi, T.3
  • 64
    • 33751175421 scopus 로고    scopus 로고
    • Interleukin-6 induces hepcidin expression through STAT3
    • Wrighting D.M., Andrews N.C. Interleukin-6 induces hepcidin expression through STAT3. Blood 2006, 108(9):3204-3209.
    • (2006) Blood , vol.108 , Issue.9 , pp. 3204-3209
    • Wrighting, D.M.1    Andrews, N.C.2
  • 66
    • 80052647221 scopus 로고    scopus 로고
    • Pharmacologic inhibition of hepcidin expression reverses anemia of chronic inflammation in rats
    • Theurl I., Schroll A., Sonnweber T., et al. Pharmacologic inhibition of hepcidin expression reverses anemia of chronic inflammation in rats. Blood 2011, 118(18):4977-4984.
    • (2011) Blood , vol.118 , Issue.18 , pp. 4977-4984
    • Theurl, I.1    Schroll, A.2    Sonnweber, T.3
  • 68
    • 44449166478 scopus 로고    scopus 로고
    • RNA-binding proteins and post-transcriptional gene regulation
    • Glisovic T., Bachorik J.L., Yong J., Dreyfuss G. RNA-binding proteins and post-transcriptional gene regulation. FEBS Lett 2008, 582(14):1977-1986.
    • (2008) FEBS Lett , vol.582 , Issue.14 , pp. 1977-1986
    • Glisovic, T.1    Bachorik, J.L.2    Yong, J.3    Dreyfuss, G.4
  • 69
    • 0029758487 scopus 로고    scopus 로고
    • Molecular control of vertebrate iron metabolism: mRNA-based regulatory circuits operated by iron, nitric oxide, and oxidative stress
    • Hentze M.W., Kühn L.C. Molecular control of vertebrate iron metabolism: mRNA-based regulatory circuits operated by iron, nitric oxide, and oxidative stress. Proc Natl Acad Sci USA 1996, 93(16):8175-8182.
    • (1996) Proc Natl Acad Sci USA , vol.93 , Issue.16 , pp. 8175-8182
    • Hentze, M.W.1    Kühn, L.C.2
  • 70
    • 2542560427 scopus 로고    scopus 로고
    • Hereditary hemochromatosis-a new look at an old disease
    • Pietrangelo A. Hereditary hemochromatosis-a new look at an old disease. N Engl J Med 2004, 350(23):2383-2397.
    • (2004) N Engl J Med , vol.350 , Issue.23 , pp. 2383-2397
    • Pietrangelo, A.1
  • 71
    • 0033517341 scopus 로고    scopus 로고
    • Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene
    • Pietrangelo A., Montosi G., Totaro A., et al. Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene. N Engl J Med 1999, 341(10):725-732.
    • (1999) N Engl J Med , vol.341 , Issue.10 , pp. 725-732
    • Pietrangelo, A.1    Montosi, G.2    Totaro, A.3
  • 72
    • 9344224529 scopus 로고    scopus 로고
    • A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
    • Feder J.N., Gnirke A., Thomas W., et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996, 13(4):399-408.
    • (1996) Nat Genet , vol.13 , Issue.4 , pp. 399-408
    • Feder, J.N.1    Gnirke, A.2    Thomas, W.3
  • 73
  • 74
    • 20244372858 scopus 로고    scopus 로고
    • Hemochromatosis and iron-overload screening in a racially diverse population
    • Adams P.C., Reboussin D.M., Barton J.C., et al. Hemochromatosis and iron-overload screening in a racially diverse population. N Engl J Med 2005, 352(17):1769-1778.
    • (2005) N Engl J Med , vol.352 , Issue.17 , pp. 1769-1778
    • Adams, P.C.1    Reboussin, D.M.2    Barton, J.C.3
  • 75
    • 0037132786 scopus 로고    scopus 로고
    • Penetrance of 845G→A (C282Y) HFE hereditary haemochromatosis mutation in the USA
    • Beutler E., Felitti V.J., Koziol J.A., Ho N.J., Gelbart T. Penetrance of 845G→A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet 2002, 359(9302):211-218.
    • (2002) Lancet , vol.359 , Issue.9302 , pp. 211-218
    • Beutler, E.1    Felitti, V.J.2    Koziol, J.A.3    Ho, N.J.4    Gelbart, T.5
  • 76
    • 38349079861 scopus 로고    scopus 로고
    • Iron-overload-related disease in HFE hereditary hemochromatosis
    • Allen K.J., Gurrin L.C., Constantine C.C., et al. Iron-overload-related disease in HFE hereditary hemochromatosis. N Engl J Med 2008, 358(3):221-230.
    • (2008) N Engl J Med , vol.358 , Issue.3 , pp. 221-230
    • Allen, K.J.1    Gurrin, L.C.2    Constantine, C.C.3
  • 77
    • 17944369464 scopus 로고    scopus 로고
    • Screening for hemochromatosis: high prevalence and low morbidity in an unselected population of 65,238 persons
    • Asberg A., Hveem K., Thorstensen K., et al. Screening for hemochromatosis: high prevalence and low morbidity in an unselected population of 65,238 persons. Scand J Gastroenterol 2001, 36(10):1108-1115.
    • (2001) Scand J Gastroenterol , vol.36 , Issue.10 , pp. 1108-1115
    • Asberg, A.1    Hveem, K.2    Thorstensen, K.3
  • 78
    • 0032478524 scopus 로고    scopus 로고
    • Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor
    • Lebrón J.A., Bennett M.J., Vaughn D.E., et al. Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor. Cell 1998, 93(1):111-123.
    • (1998) Cell , vol.93 , Issue.1 , pp. 111-123
    • Lebrón, J.A.1    Bennett, M.J.2    Vaughn, D.E.3
  • 79
    • 0032555601 scopus 로고    scopus 로고
    • Co-trafficking of HFE, a nonclassical major histocompatibility complex class I protein, with the transferrin receptor implies a role in intracellular iron regulation
    • Gross C.N., Irrinki A., Feder J.N., Enns C.A. Co-trafficking of HFE, a nonclassical major histocompatibility complex class I protein, with the transferrin receptor implies a role in intracellular iron regulation. J Biol Chem 1998, 273(34):22068-22074.
    • (1998) J Biol Chem , vol.273 , Issue.34 , pp. 22068-22074
    • Gross, C.N.1    Irrinki, A.2    Feder, J.N.3    Enns, C.A.4
  • 80
    • 13144282684 scopus 로고    scopus 로고
    • The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding
    • Feder J.N., Penny D.M., Irrinki A., et al. The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc Natl Acad Sci USA 1998, 95(4):1472-1477.
    • (1998) Proc Natl Acad Sci USA , vol.95 , Issue.4 , pp. 1472-1477
    • Feder, J.N.1    Penny, D.M.2    Irrinki, A.3
  • 81
    • 0033605595 scopus 로고    scopus 로고
    • The hereditary hemochromatosis protein, HFE, specifically regulates transferrin-mediated iron uptake in HeLa cells
    • Roy C.N., Penny D.M., Feder J.N., Enns C.A. The hereditary hemochromatosis protein, HFE, specifically regulates transferrin-mediated iron uptake in HeLa cells. J Biol Chem 1999, 274(13):9022-9028.
    • (1999) J Biol Chem , vol.274 , Issue.13 , pp. 9022-9028
    • Roy, C.N.1    Penny, D.M.2    Feder, J.N.3    Enns, C.A.4
  • 82
    • 0037022588 scopus 로고    scopus 로고
    • Regulation of transferrin-mediated iron uptake by HFE, the protein defective in hereditary hemochromatosis
    • Waheed A., Grubb J.H., Zhou X.Y., et al. Regulation of transferrin-mediated iron uptake by HFE, the protein defective in hereditary hemochromatosis. Proc Natl Acad Sci USA 2002, 99(5):3117-3122.
    • (2002) Proc Natl Acad Sci USA , vol.99 , Issue.5 , pp. 3117-3122
    • Waheed, A.1    Grubb, J.H.2    Zhou, X.Y.3
  • 83
    • 0030732164 scopus 로고    scopus 로고
    • 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
    • Waheed A., Parkkila S., Zhou X.Y., et al. 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. Proc Natl Acad Sci USA 1997, 94(23):12384-12389.
    • (1997) Proc Natl Acad Sci USA , vol.94 , Issue.23 , pp. 12384-12389
    • Waheed, A.1    Parkkila, S.2    Zhou, X.Y.3
  • 84
    • 9144252017 scopus 로고    scopus 로고
    • Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis
    • Papanikolaou G., Samuels M.E., Ludwig E.H., et al. Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. Nat Genet 2004, 36(1):77-82.
    • (2004) Nat Genet , vol.36 , Issue.1 , pp. 77-82
    • Papanikolaou, G.1    Samuels, M.E.2    Ludwig, E.H.3
  • 85
    • 20244388240 scopus 로고    scopus 로고
    • Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis
    • Roetto A., Papanikolaou G., Politou M., et al. Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. Nat Genet 2003, 33(1):21-22.
    • (2003) Nat Genet , vol.33 , Issue.1 , pp. 21-22
    • Roetto, A.1    Papanikolaou, G.2    Politou, M.3
  • 86
    • 84984775346 scopus 로고    scopus 로고
    • BMP6 orchestrates iron metabolism
    • Camaschella C. BMP6 orchestrates iron metabolism. Nat Genet 2009, 41(4):386-388.
    • (2009) Nat Genet , vol.41 , Issue.4 , pp. 386-388
    • Camaschella, C.1
  • 87
    • 0036678091 scopus 로고    scopus 로고
    • Targeted mutagenesis of the murine transferrin receptor-2 gene produces hemochromatosis
    • Fleming R.E., Ahmann J.R., Migas M.C., et al. Targeted mutagenesis of the murine transferrin receptor-2 gene produces hemochromatosis. Proc Natl Acad Sci USA 2002, 99(16):10653-10658.
    • (2002) Proc Natl Acad Sci USA , vol.99 , Issue.16 , pp. 10653-10658
    • Fleming, R.E.1    Ahmann, J.R.2    Migas, M.C.3
  • 88
    • 0036242163 scopus 로고    scopus 로고
    • Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene
    • Girelli D., Bozzini C., Roetto A., et al. Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene. Gastroenterology 2002, 122(5):1295-1302.
    • (2002) Gastroenterology , vol.122 , Issue.5 , pp. 1295-1302
    • Girelli, D.1    Bozzini, C.2    Roetto, A.3
  • 89
    • 0036682965 scopus 로고    scopus 로고
    • Mutation analysis of transferrin-receptor 2 in patients with atypical hemochromatosis
    • Hofmann W.K., Tong X.J., Ajioka R.S., Kushner J.P., Koeffler H.P. Mutation analysis of transferrin-receptor 2 in patients with atypical hemochromatosis. Blood 2002, 100(3):1099-1100.
    • (2002) Blood , vol.100 , Issue.3 , pp. 1099-1100
    • Hofmann, W.K.1    Tong, X.J.2    Ajioka, R.S.3    Kushner, J.P.4    Koeffler, H.P.5
  • 90
    • 0043170776 scopus 로고    scopus 로고
    • AVAQ 594-597 deletion of the TfR2 gene in a Japanese family with hemochromatosis
    • Hattori A., Wakusawa S., Hayashi H., et al. AVAQ 594-597 deletion of the TfR2 gene in a Japanese family with hemochromatosis. Hepatol Res 2003, 26(2):154-156.
    • (2003) Hepatol Res , vol.26 , Issue.2 , pp. 154-156
    • Hattori, A.1    Wakusawa, S.2    Hayashi, H.3
  • 91
    • 17944380796 scopus 로고    scopus 로고
    • Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene
    • Montosi G., Donovan A., Totaro A., et al. Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. J Clin Invest 2001, 108(4):619-623.
    • (2001) J Clin Invest , vol.108 , Issue.4 , pp. 619-623
    • Montosi, G.1    Donovan, A.2    Totaro, A.3
  • 92
    • 0034930197 scopus 로고    scopus 로고
    • A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
    • Njajou O.T., Vaessen N., Joosse M., et al. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. Nat Genet 2001, 28(3):213-214.
    • (2001) Nat Genet , vol.28 , Issue.3 , pp. 213-214
    • Njajou, O.T.1    Vaessen, N.2    Joosse, M.3
  • 93
    • 0033861745 scopus 로고    scopus 로고
    • A novel duodenal iron-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation
    • McKie A.T., Marciani P., Rolfs A., et al. A novel duodenal iron-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation. Mol Cell 2000, 5(2):299-309.
    • (2000) Mol Cell , vol.5 , Issue.2 , pp. 299-309
    • McKie, A.T.1    Marciani, P.2    Rolfs, A.3
  • 94
    • 5044245698 scopus 로고    scopus 로고
    • Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload
    • Zaahl M.G., Merryweather-Clarke A.T., Kotze M.J., van der Merwe S., Warnich L., Robson K.J. Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload. Hum Genet 2004, 115(5):409-417.
    • (2004) Hum Genet , vol.115 , Issue.5 , pp. 409-417
    • Zaahl, M.G.1    Merryweather-Clarke, A.T.2    Kotze, M.J.3    van der Merwe, S.4    Warnich, L.5    Robson, K.J.6
  • 95
    • 33644798951 scopus 로고    scopus 로고
    • Genetic and clinical heterogeneity of ferroportin disease
    • Cremonesi L., Cemonesi L., Forni G.L., et al. Genetic and clinical heterogeneity of ferroportin disease. Br J Haematol 2005, 131(5):663-670.
    • (2005) Br J Haematol , vol.131 , Issue.5 , pp. 663-670
    • Cremonesi, L.1    Cemonesi, L.2    Forni, G.L.3
  • 96
    • 10744232713 scopus 로고    scopus 로고
    • Iron overload in Africans and African-Americans and a common mutation in the SCL40A1 (ferroportin 1) gene
    • Gordeuk V.R., Caleffi A., Corradini E., et al. Iron overload in Africans and African-Americans and a common mutation in the SCL40A1 (ferroportin 1) gene. Blood Cells Mol Dis 2003, 31(3):299-304.
    • (2003) Blood Cells Mol Dis , vol.31 , Issue.3 , pp. 299-304
    • Gordeuk, V.R.1    Caleffi, A.2    Corradini, E.3
  • 97
    • 84874537127 scopus 로고    scopus 로고
    • Reduced sensitivity of the ferroportin Q248H mutant to physiological concentrations of hepcidin
    • Nekhai S., Xu M., Foster A., et al. Reduced sensitivity of the ferroportin Q248H mutant to physiological concentrations of hepcidin. Haematologica 2013, 98(3):455-463.
    • (2013) Haematologica , vol.98 , Issue.3 , pp. 455-463
    • Nekhai, S.1    Xu, M.2    Foster, A.3
  • 98
    • 79951592994 scopus 로고    scopus 로고
    • Two novel mutations in the SLC40A1 and HFE genes implicated in iron overload in a Spanish man
    • Del-Castillo-Rueda A., Moreno-Carralero M.I., Alvarez-Sala-Walther L.A., et al. Two novel mutations in the SLC40A1 and HFE genes implicated in iron overload in a Spanish man. Eur J Haematol 2011, 86(3):260-264.
    • (2011) Eur J Haematol , vol.86 , Issue.3 , pp. 260-264
    • Del-Castillo-Rueda, A.1    Moreno-Carralero, M.I.2    Alvarez-Sala-Walther, L.A.3
  • 99
    • 70349297213 scopus 로고    scopus 로고
    • The treatment of secondary hemochromatosis
    • I
    • Gattermann N. The treatment of secondary hemochromatosis. Dtsch Arztebl Int 2009, 106(30):499-504. I.
    • (2009) Dtsch Arztebl Int , vol.106 , Issue.30 , pp. 499-504
    • Gattermann, N.1
  • 102
    • 0022368621 scopus 로고
    • Survival and causes of death in cirrhotic and in noncirrhotic patients with primary hemochromatosis
    • Niederau C., Fischer R., Sonnenberg A., Stremmel W., Trampisch H.J., Strohmeyer G. Survival and causes of death in cirrhotic and in noncirrhotic patients with primary hemochromatosis. N Engl J Med 1985, 313(20):1256-1262.
    • (1985) N Engl J Med , vol.313 , Issue.20 , pp. 1256-1262
    • Niederau, C.1    Fischer, R.2    Sonnenberg, A.3    Stremmel, W.4    Trampisch, H.J.5    Strohmeyer, G.6
  • 103
    • 0025877002 scopus 로고
    • Clinical presentation of hemochromatosis: a changing scene
    • Adams P.C., Kertesz A.E., Valberg L.S. Clinical presentation of hemochromatosis: a changing scene. Am J Med 1991, 90(4):445-449.
    • (1991) Am J Med , vol.90 , Issue.4 , pp. 445-449
    • Adams, P.C.1    Kertesz, A.E.2    Valberg, L.S.3
  • 104
    • 0030957346 scopus 로고    scopus 로고
    • Hereditary hemochromatosis: presentation and diagnosis in the 1990s
    • Bacon B.R., Sadiq S.A. Hereditary hemochromatosis: presentation and diagnosis in the 1990s. Am J Gastroenterol 1997, 92(5):784-789.
    • (1997) Am J Gastroenterol , vol.92 , Issue.5 , pp. 784-789
    • Bacon, B.R.1    Sadiq, S.A.2
  • 106
    • 0021934763 scopus 로고
    • Hepatic mitochondrial oxidative metabolism in rats with chronic dietary iron overload
    • Bacon B.R., Park C.H., Brittenham G.M., O'Neill R., Tavill A.S. Hepatic mitochondrial oxidative metabolism in rats with chronic dietary iron overload. Hepatology 1985, 5(5):789-797.
    • (1985) Hepatology , vol.5 , Issue.5 , pp. 789-797
    • Bacon, B.R.1    Park, C.H.2    Brittenham, G.M.3    O'Neill, R.4    Tavill, A.S.5
  • 107
    • 0032870593 scopus 로고    scopus 로고
    • An in vitro model for the study of phagocytosis of damaged hepatocytes by rat Kupffer cells
    • Olynyk J.K., Britton R.S., Stephenson A.H., Leicester K.L., O'Neill R., Bacon B.R. An in vitro model for the study of phagocytosis of damaged hepatocytes by rat Kupffer cells. Liver 1999, 19(5):418-422.
    • (1999) Liver , vol.19 , Issue.5 , pp. 418-422
    • Olynyk, J.K.1    Britton, R.S.2    Stephenson, A.H.3    Leicester, K.L.4    O'Neill, R.5    Bacon, B.R.6
  • 108
    • 57249103568 scopus 로고    scopus 로고
    • The natural history of serum iron indices for HFE C282Y homozygosity associated with hereditary hemochromatosis
    • Gurrin L.C., Osborne N.J., Constantine C.C., et al. The natural history of serum iron indices for HFE C282Y homozygosity associated with hereditary hemochromatosis. Gastroenterology 2008, 135(6):1945-1952.
    • (2008) Gastroenterology , vol.135 , Issue.6 , pp. 1945-1952
    • Gurrin, L.C.1    Osborne, N.J.2    Constantine, C.C.3
  • 109
    • 79959547265 scopus 로고    scopus 로고
    • Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases
    • Bacon B.R., Adams P.C., Kowdley K.V., Powell L.W., Tavill A.S., Diseases AAftSoL. Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases. Hepatology 2011, 54(1):328-343.
    • (2011) Hepatology , vol.54 , Issue.1 , pp. 328-343
    • Bacon, B.R.1    Adams, P.C.2    Kowdley, K.V.3    Powell, L.W.4    Tavill, A.S.5    Diseases, A.6
  • 111
    • 0021215227 scopus 로고
    • Diagnosis of hemochromatosis in young subjects: predictive accuracy of biochemical screening tests
    • Bassett M.L., Halliday J.W., Ferris R.A., Powell L.W. Diagnosis of hemochromatosis in young subjects: predictive accuracy of biochemical screening tests. Gastroenterology 1984, 87(3):628-633.
    • (1984) Gastroenterology , vol.87 , Issue.3 , pp. 628-633
    • Bassett, M.L.1    Halliday, J.W.2    Ferris, R.A.3    Powell, L.W.4
  • 112
    • 36349028180 scopus 로고    scopus 로고
    • Hemochromatosis: an endocrine liver disease
    • Pietrangelo A. Hemochromatosis: an endocrine liver disease. Hepatology 2007, 46(4):1291-1301.
    • (2007) Hepatology , vol.46 , Issue.4 , pp. 1291-1301
    • Pietrangelo, A.1
  • 113
    • 0025913745 scopus 로고
    • Long-term survival analysis in hereditary hemochromatosis
    • Adams P.C., Speechley M., Kertesz A.E. Long-term survival analysis in hereditary hemochromatosis. Gastroenterology 1991, 101(2):368-372.
    • (1991) Gastroenterology , vol.101 , Issue.2 , pp. 368-372
    • Adams, P.C.1    Speechley, M.2    Kertesz, A.E.3
  • 115
    • 77955906218 scopus 로고    scopus 로고
    • How I treat hemochromatosis
    • Adams P.C., Barton J.C. How I treat hemochromatosis. Blood 2010, 116(3):317-325.
    • (2010) Blood , vol.116 , Issue.3 , pp. 317-325
    • Adams, P.C.1    Barton, J.C.2
  • 116
    • 33747042226 scopus 로고    scopus 로고
    • Reversibility of hepatic fibrosis in treated genetic hemochromatosis: a study of 36 cases
    • Falize L., Guillygomarc'h A., Perrin M., et al. Reversibility of hepatic fibrosis in treated genetic hemochromatosis: a study of 36 cases. Hepatology 2006, 44(2):472-477.
    • (2006) Hepatology , vol.44 , Issue.2 , pp. 472-477
    • Falize, L.1    Guillygomarc'h, A.2    Perrin, M.3
  • 117
    • 10744232491 scopus 로고    scopus 로고
    • Cancer risk in patients with hereditary hemochromatosis and in their first-degree relatives
    • Elmberg M., Hultcrantz R., Ekbom A., et al. Cancer risk in patients with hereditary hemochromatosis and in their first-degree relatives. Gastroenterology 2003, 125(6):1733-1741.
    • (2003) Gastroenterology , vol.125 , Issue.6 , pp. 1733-1741
    • Elmberg, M.1    Hultcrantz, R.2    Ekbom, A.3
  • 118
    • 77950620367 scopus 로고    scopus 로고
    • HFE C282Y homozygotes are at increased risk of breast and colorectal cancer
    • Osborne N.J., Gurrin L.C., Allen K.J., et al. HFE C282Y homozygotes are at increased risk of breast and colorectal cancer. Hepatology 2010, 51(4):1311-1318.
    • (2010) Hepatology , vol.51 , Issue.4 , pp. 1311-1318
    • Osborne, N.J.1    Gurrin, L.C.2    Allen, K.J.3
  • 119
    • 0024446959 scopus 로고
    • Food iron absorption in idiopathic hemochromatosis
    • Lynch S.R., Skikne B.S., Cook J.D. Food iron absorption in idiopathic hemochromatosis. Blood 1989, 74(6):2187-2193.
    • (1989) Blood , vol.74 , Issue.6 , pp. 2187-2193
    • Lynch, S.R.1    Skikne, B.S.2    Cook, J.D.3
  • 120
    • 0033792885 scopus 로고    scopus 로고
    • Iron deficiency due to excessive therapeutic phlebotomy in hemochromatosis
    • Barton J.C., Bottomley S.S. Iron deficiency due to excessive therapeutic phlebotomy in hemochromatosis. Am J Hematol 2000, 65(3):223-226.
    • (2000) Am J Hematol , vol.65 , Issue.3 , pp. 223-226
    • Barton, J.C.1    Bottomley, S.S.2
  • 121
    • 20344383003 scopus 로고    scopus 로고
    • Erythrocytapheresis plus erythropoietin: an alternative therapy for selected patients with hemochromatosis and severe organ damage
    • Mariani R., Pelucchi S., Perseghin P., Corengia C., Piperno A. Erythrocytapheresis plus erythropoietin: an alternative therapy for selected patients with hemochromatosis and severe organ damage. Haematologica 2005, 90(5):717-718.
    • (2005) Haematologica , vol.90 , Issue.5 , pp. 717-718
    • Mariani, R.1    Pelucchi, S.2    Perseghin, P.3    Corengia, C.4    Piperno, A.5
  • 123
    • 0038187626 scopus 로고    scopus 로고
    • Comparative effects of deferiprone and deferoxamine on survival and cardiac disease in patients with thalassemia major: a retrospective analysis
    • Piga A., Gaglioti C., Fogliacco E., Tricta F. Comparative effects of deferiprone and deferoxamine on survival and cardiac disease in patients with thalassemia major: a retrospective analysis. Haematologica 2003, 88(5):489-496.
    • (2003) Haematologica , vol.88 , Issue.5 , pp. 489-496
    • Piga, A.1    Gaglioti, C.2    Fogliacco, E.3    Tricta, F.4
  • 124
    • 33748783066 scopus 로고    scopus 로고
    • A prospective randomized controlled trial on the safety and efficacy of alternating deferoxamine and deferiprone in the treatment of iron overload in patients with thalassemia
    • Galanello R., Kattamis A., Piga A., et al. A prospective randomized controlled trial on the safety and efficacy of alternating deferoxamine and deferiprone in the treatment of iron overload in patients with thalassemia. Haematologica 2006, 91(9):1241-1243.
    • (2006) Haematologica , vol.91 , Issue.9 , pp. 1241-1243
    • Galanello, R.1    Kattamis, A.2    Piga, A.3
  • 125
    • 0042943205 scopus 로고    scopus 로고
    • Safety and effectiveness of long-term therapy with the oral iron chelator deferiprone
    • Cohen A.R., Galanello R., Piga A., De Sanctis V., Tricta F. Safety and effectiveness of long-term therapy with the oral iron chelator deferiprone. Blood 2003, 102(5):1583-1587.
    • (2003) Blood , vol.102 , Issue.5 , pp. 1583-1587
    • Cohen, A.R.1    Galanello, R.2    Piga, A.3    De Sanctis, V.4    Tricta, F.5
  • 126
    • 0034094839 scopus 로고    scopus 로고
    • Safety profile of the oral iron chelator deferiprone: a multicentre study
    • Cohen A.R., Galanello R., Piga A., Dipalma A., Vullo C., Tricta F. Safety profile of the oral iron chelator deferiprone: a multicentre study. Br J Haematol 2000, 108(2):305-312.
    • (2000) Br J Haematol , vol.108 , Issue.2 , pp. 305-312
    • Cohen, A.R.1    Galanello, R.2    Piga, A.3    Dipalma, A.4    Vullo, C.5    Tricta, F.6
  • 127
    • 0347480378 scopus 로고    scopus 로고
    • Effective treatment of hereditary haemochromatosis with desferrioxamine in selected cases
    • Nielsen P., Fischer R., Buggisch P., Janka-Schaub G. Effective treatment of hereditary haemochromatosis with desferrioxamine in selected cases. Br J Haematol 2003, 123(5):952-953.
    • (2003) Br J Haematol , vol.123 , Issue.5 , pp. 952-953
    • Nielsen, P.1    Fischer, R.2    Buggisch, P.3    Janka-Schaub, G.4
  • 128
    • 33646414765 scopus 로고    scopus 로고
    • A phase 3 study of deferasirox (ICL670), a once-daily oral iron chelator, in patients with beta-thalassemia
    • Cappellini M.D., Cohen A., Piga A., et al. A phase 3 study of deferasirox (ICL670), a once-daily oral iron chelator, in patients with beta-thalassemia. Blood 2006, 107(9):3455-3462.
    • (2006) Blood , vol.107 , Issue.9 , pp. 3455-3462
    • Cappellini, M.D.1    Cohen, A.2    Piga, A.3
  • 129
    • 78049509815 scopus 로고    scopus 로고
    • A phase 1/2, dose-escalation trial of deferasirox for the treatment of iron overload in HFE-related hereditary hemochromatosis
    • Phatak P., Brissot P., Wurster M., et al. A phase 1/2, dose-escalation trial of deferasirox for the treatment of iron overload in HFE-related hereditary hemochromatosis. Hepatology 2010, 52(5):1671-1779.
    • (2010) Hepatology , vol.52 , Issue.5 , pp. 1671-1779
    • Phatak, P.1    Brissot, P.2    Wurster, M.3
  • 130
    • 80051615717 scopus 로고    scopus 로고
    • Deferoxamine for advanced hepatocellular carcinoma
    • Yamasaki T., Terai S., Sakaida I. Deferoxamine for advanced hepatocellular carcinoma. N Engl J Med 2011, 365(6):576-578.
    • (2011) N Engl J Med , vol.365 , Issue.6 , pp. 576-578
    • Yamasaki, T.1    Terai, S.2    Sakaida, I.3
  • 131
    • 0033025359 scopus 로고    scopus 로고
    • Iron chelator deferoxamine reduces preneoplastic lesions in liver induced by choline-deficient l-amino acid-defined diet in rats
    • Sakaida I., Hironaka K., Uchida K., Okita K. Iron chelator deferoxamine reduces preneoplastic lesions in liver induced by choline-deficient l-amino acid-defined diet in rats. Dig Dis Sci 1999, 44(3):560-569.
    • (1999) Dig Dis Sci , vol.44 , Issue.3 , pp. 560-569
    • Sakaida, I.1    Hironaka, K.2    Uchida, K.3    Okita, K.4
  • 132
    • 34548127058 scopus 로고    scopus 로고
    • Proton pump inhibitors suppress absorption of dietary non-haem iron in hereditary haemochromatosis
    • Hutchinson C., Geissler C.A., Powell J.J., Bomford A. Proton pump inhibitors suppress absorption of dietary non-haem iron in hereditary haemochromatosis. Gut 2007, 56(9):1291-1295.
    • (2007) Gut , vol.56 , Issue.9 , pp. 1291-1295
    • Hutchinson, C.1    Geissler, C.A.2    Powell, J.J.3    Bomford, A.4
  • 133
    • 0030755366 scopus 로고    scopus 로고
    • Cloning and characterization of a mammalian proton-coupled metal-ion transporter
    • Gunshin H., Mackenzie B., Berger U.V., et al. Cloning and characterization of a mammalian proton-coupled metal-ion transporter. Nature 1997, 388(6641):482-488.
    • (1997) Nature , vol.388 , Issue.6641 , pp. 482-488
    • Gunshin, H.1    Mackenzie, B.2    Berger, U.V.3


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