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Volumn 416, Issue , 2013, Pages 20-25

Effect of ferroportin polymorphism on iron homeostasis and infection

Author keywords

Ferroportin polymorphism; Infection; Iron homeostasis; SCL40A1 gene

Indexed keywords

FERROPORTIN; HEPCIDIN; IRON REGULATORY PROTEIN 1; IRON REGULATORY PROTEIN 2; MEMBRANE PROTEIN;

EID: 84870978966     PISSN: 00098981     EISSN: 18733492     Source Type: Journal    
DOI: 10.1016/j.cca.2012.11.013     Document Type: Review
Times cited : (27)

References (81)
  • 1
    • 0034733635 scopus 로고    scopus 로고
    • A novel mammalian iron-regulated protein involved in intracellular iron metabolism
    • Abboud S., Haile D.J. A novel mammalian iron-regulated protein involved in intracellular iron metabolism. J Biol Chem 2000, 275:19906-19912.
    • (2000) J Biol Chem , vol.275 , pp. 19906-19912
    • Abboud, S.1    Haile, D.J.2
  • 2
    • 0034677467 scopus 로고    scopus 로고
    • Positional cloning of zebrafish ferroportin identifies a conserved vertebrate iron exporter
    • Donovan A., Brownlie A., Zhou Y., Shepard J., Pratt S.J., Moynihan J., et al. Positional cloning of zebrafish ferroportin identifies a conserved vertebrate iron exporter. Nature 2000, 403:776-781.
    • (2000) Nature , vol.403 , pp. 776-781
    • Donovan, A.1    Brownlie, A.2    Zhou, Y.3    Shepard, J.4    Pratt, S.J.5    Moynihan, J.6
  • 3
    • 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., Brennan K., Wehr K., Barrow D., et al. A novel duodenal iron-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation. Mol Cell 2000, 5:299-309.
    • (2000) Mol Cell , vol.5 , pp. 299-309
    • McKie, A.T.1    Marciani, P.2    Rolfs, A.3    Brennan, K.4    Wehr, K.5    Barrow, D.6
  • 4
    • 21544442328 scopus 로고    scopus 로고
    • Functional consequences of ferroportin 1 mutations
    • Liu X.B., Yang F., Haile D.J. Functional consequences of ferroportin 1 mutations. Blood Cells Mol Dis 2005, 35:33-46.
    • (2005) Blood Cells Mol Dis , vol.35 , pp. 33-46
    • Liu, X.B.1    Yang, F.2    Haile, D.J.3
  • 5
    • 59649083156 scopus 로고    scopus 로고
    • Investigation of the biophysical and cell biological properties of ferroportin, a multipass integral membrane protein iron exporter
    • Rice A.E., Mendez M.J., Hokanson C.A., Rees D.C., Björkman P.J. Investigation of the biophysical and cell biological properties of ferroportin, a multipass integral membrane protein iron exporter. J Mol Biol 2009, 386:717-732.
    • (2009) J Mol Biol , vol.386 , pp. 717-732
    • Rice, A.E.1    Mendez, M.J.2    Hokanson, C.A.3    Rees, D.C.4    Björkman, P.J.5
  • 6
    • 0036431779 scopus 로고    scopus 로고
    • Genetic haemochromatosis: genes and mutations associated with iron loading
    • Camaschella C., Roetto A., De Gobbi M. Genetic haemochromatosis: genes and mutations associated with iron loading. Best Pract Res Clin Haematol 2002, 15:261-276.
    • (2002) Best Pract Res Clin Haematol , vol.15 , pp. 261-276
    • Camaschella, C.1    Roetto, A.2    De Gobbi, M.3
  • 7
    • 77957340866 scopus 로고    scopus 로고
    • Ferroportin disease: a systematic meta-analysis of clinical and molecular findings
    • Mayr R., Janecke A.R., Schranz M., Griffiths W.J.H., Vogel W., Pietrangelo A., et al. Ferroportin disease: a systematic meta-analysis of clinical and molecular findings. J Hepatol 2010, 53:941-949.
    • (2010) J Hepatol , vol.53 , pp. 941-949
    • Mayr, R.1    Janecke, A.R.2    Schranz, M.3    Griffiths, W.J.H.4    Vogel, W.5    Pietrangelo, A.6
  • 8
    • 20444416123 scopus 로고    scopus 로고
    • The iron exporter ferroportin/Slc40a1 is essential for iron homeostasis
    • Donovan A., Lima C.A., Pinkus J.L., Pinkus G.S., Zon L.I., Robine S., et al. The iron exporter ferroportin/Slc40a1 is essential for iron homeostasis. Cell Metab 2005, 1:191-200.
    • (2005) Cell Metab , vol.1 , pp. 191-200
    • Donovan, A.1    Lima, C.A.2    Pinkus, J.L.3    Pinkus, G.S.4    Zon, L.I.5    Robine, S.6
  • 10
    • 10744219518 scopus 로고    scopus 로고
    • Expression of the iron transporter ferroportin in synaptic vesicles and the blood-brain barrier
    • Wu L.J., Leenders A.G., Cooperman S., Meyron-Holtz E., Smith S., Land W., et al. Expression of the iron transporter ferroportin in synaptic vesicles and the blood-brain barrier. Brain Res 2004, 1001:108-117.
    • (2004) Brain Res , vol.1001 , pp. 108-117
    • Wu, L.J.1    Leenders, A.G.2    Cooperman, S.3    Meyron-Holtz, E.4    Smith, S.5    Land, W.6
  • 11
    • 0038711587 scopus 로고    scopus 로고
    • Glycosylphosphatidylinositol-anchored ceruloplasmin is required for iron efflux from cells in the central nervous system
    • Jeong S.Y., David S. Glycosylphosphatidylinositol-anchored ceruloplasmin is required for iron efflux from cells in the central nervous system. J Biol Chem 2003, 278:27144-27148.
    • (2003) J Biol Chem , vol.278 , pp. 27144-27148
    • Jeong, S.Y.1    David, S.2
  • 12
    • 27744490839 scopus 로고    scopus 로고
    • Glucose-induced regulation of novel iron transporters in vascular endothelial cell dysfunction
    • Khan Z.A., Farhangkhoee H., Barbin Y.P., Adams P.C., Chakrabarti S. Glucose-induced regulation of novel iron transporters in vascular endothelial cell dysfunction. Free Radic Res 2005, 39:1203-1210.
    • (2005) Free Radic Res , vol.39 , pp. 1203-1210
    • Khan, Z.A.1    Farhangkhoee, H.2    Barbin, Y.P.3    Adams, P.C.4    Chakrabarti, S.5
  • 13
    • 33644798028 scopus 로고    scopus 로고
    • Tumor necrosis factor-alpha-induced iron sequestration and oxidative stress in human endothelial cells
    • Nanami M., Ookawara T., Otaki Y., Ito K., Moriguchi R., Miyagawa K., et al. Tumor necrosis factor-alpha-induced iron sequestration and oxidative stress in human endothelial cells. Arterioscler Thromb Vasc Biol 2005, 12:2495-2501.
    • (2005) Arterioscler Thromb Vasc Biol , vol.12 , pp. 2495-2501
    • Nanami, M.1    Ookawara, T.2    Otaki, Y.3    Ito, K.4    Moriguchi, R.5    Miyagawa, K.6
  • 14
    • 84864308938 scopus 로고    scopus 로고
    • Ferroportin-mediated iron transport: expression and regulation
    • Ward D.M., Kaplan J. Ferroportin-mediated iron transport: expression and regulation. Biochim Biophys Acta 2012, 1823:1426-1433.
    • (2012) Biochim Biophys Acta , vol.1823 , pp. 1426-1433
    • Ward, D.M.1    Kaplan, J.2
  • 15
    • 79958146087 scopus 로고    scopus 로고
    • Hypoxia-inducible factor 2alpha mediates the adaptive increase of intestinal ferroportin during iron deficiency in mice
    • Taylor M., Qu A., Anderson E.R., Matsubara T., Martin A., Gonzalez F.J., et al. Hypoxia-inducible factor 2alpha mediates the adaptive increase of intestinal ferroportin during iron deficiency in mice. Gastroentorology 2011, 140:2044-2055.
    • (2011) Gastroentorology , vol.140 , pp. 2044-2055
    • Taylor, M.1    Qu, A.2    Anderson, E.R.3    Matsubara, T.4    Martin, A.5    Gonzalez, F.J.6
  • 16
    • 0345688910 scopus 로고    scopus 로고
    • Iron loading and erythrophagocytosis increase ferroportin 1 (FPN1) expression in J774 macrophages
    • Knutson M.D., Vafa M.R., Haile D.J., Wessling-Resnick M. Iron loading and erythrophagocytosis increase ferroportin 1 (FPN1) expression in J774 macrophages. Blood 2003, 102:4191-4197.
    • (2003) Blood , vol.102 , pp. 4191-4197
    • Knutson, M.D.1    Vafa, M.R.2    Haile, D.J.3    Wessling-Resnick, M.4
  • 17
    • 77953713414 scopus 로고    scopus 로고
    • Heme controls ferroportin 1 (FPN1) transcription involving Bach 1, NrF2 and a MARE/ARE sequence at position -7007 of the FPN1 promoter
    • Marro S., Chiabrando D., Messana E., Stolte J., Turco E., Tolosano E., et al. Heme controls ferroportin 1 (FPN1) transcription involving Bach 1, NrF2 and a MARE/ARE sequence at position -7007 of the FPN1 promoter. Haematologica 2010, 95:1261-1268.
    • (2010) Haematologica , vol.95 , pp. 1261-1268
    • Marro, S.1    Chiabrando, D.2    Messana, E.3    Stolte, J.4    Turco, E.5    Tolosano, E.6
  • 18
    • 20444413054 scopus 로고    scopus 로고
    • Deregulation of proteins involved in iron metabolism in hepcidin-deficient mice
    • Viatte L., Lesbordes-Brion J.C., Lou D.Q., Bennoun M., Nicolas G., Khan A., et al. Deregulation of proteins involved in iron metabolism in hepcidin-deficient mice. Blood 2005, 105:4861-4864.
    • (2005) Blood , vol.105 , pp. 4861-4864
    • Viatte, L.1    Lesbordes-Brion, J.C.2    Lou, D.Q.3    Bennoun, M.4    Nicolas, G.5    Khan, A.6
  • 19
    • 50949102412 scopus 로고    scopus 로고
    • Systemic iron homeostasis and the iron responsive element/iron regulatory protein (IRE/IRP) regulatory network
    • Muckenthaler M.U., Galy B., Hentze M.W. Systemic iron homeostasis and the iron responsive element/iron regulatory protein (IRE/IRP) regulatory network. Annu Rev Nutr 2008, 28:197-213.
    • (2008) Annu Rev Nutr , vol.28 , pp. 197-213
    • Muckenthaler, M.U.1    Galy, B.2    Hentze, M.W.3
  • 20
    • 0344974223 scopus 로고    scopus 로고
    • Role of the ferroportin iron-responsive element in iron and nitric oxide dependent gene regulation
    • Liu X.B., Hill P., Haile D.J. Role of the ferroportin iron-responsive element in iron and nitric oxide dependent gene regulation. Blood Cells Mol Dis 2002, 29:315-326.
    • (2002) Blood Cells Mol Dis , vol.29 , pp. 315-326
    • Liu, X.B.1    Hill, P.2    Haile, D.J.3
  • 21
    • 0242521527 scopus 로고    scopus 로고
    • The role of the iron responsive element in the control of ferroportin1/IREG1/MTP1 gene expression
    • Lymboussaki A., Pignatti E., Montosi G., Garuti C., Haile D.J., Pietrangelo A. The role of the iron responsive element in the control of ferroportin1/IREG1/MTP1 gene expression. J Hepatol 2003, 39:710-715.
    • (2003) J Hepatol , vol.39 , pp. 710-715
    • Lymboussaki, A.1    Pignatti, E.2    Montosi, G.3    Garuti, C.4    Haile, D.J.5    Pietrangelo, A.6
  • 22
    • 0035049419 scopus 로고    scopus 로고
    • Expression of the duodenal iron transporters divalent-metal transporter 1 and ferroportin 1 in iron deficiency and iron overload
    • Zoller H., Koch R.O., Theurl I., Obrist P., Pietrangelo A., Montosi G., et al. Expression of the duodenal iron transporters divalent-metal transporter 1 and ferroportin 1 in iron deficiency and iron overload. Gastroenterology 2001, 120:1412-1419.
    • (2001) Gastroenterology , vol.120 , pp. 1412-1419
    • Zoller, H.1    Koch, R.O.2    Theurl, I.3    Obrist, P.4    Pietrangelo, A.5    Montosi, G.6
  • 23
    • 0035896642 scopus 로고    scopus 로고
    • Hepcidin, a urinary antimicrobial peptide synthesized in the liver
    • Park C.H., Valore E.V., Waring A.J., Ganz T. Hepcidin, a urinary antimicrobial peptide synthesized in the liver. J Biol Chem 2001, 276:7806-7810.
    • (2001) J Biol Chem , vol.276 , pp. 7806-7810
    • Park, C.H.1    Valore, E.V.2    Waring, A.J.3    Ganz, T.4
  • 24
    • 21544449756 scopus 로고    scopus 로고
    • Regulation of hepcidin and ferroportin expression by lipopolysaccharide in splenic macrophages
    • Liu X.B., Nguyen N.B.H., Marquess K.D., Yang F., Haile D.J. Regulation of hepcidin and ferroportin expression by lipopolysaccharide in splenic macrophages. Blood Cells Mol Dis 2005, 35:47-56.
    • (2005) Blood Cells Mol Dis , vol.35 , pp. 47-56
    • Liu, X.B.1    Nguyen, N.B.H.2    Marquess, K.D.3    Yang, F.4    Haile, D.J.5
  • 25
    • 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., Lerover P., Turlin B., Brissot P., 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, 276:7811-7819.
    • (2001) J Biol Chem , vol.276 , pp. 7811-7819
    • Pigeon, C.1    Ilyin, G.2    Courselaud, B.3    Lerover, P.4    Turlin, B.5    Brissot, P.6
  • 26
    • 33750133047 scopus 로고    scopus 로고
    • Regulation of iron metabolism by hepcidin
    • Nemeth E., Ganz T. Regulation of iron metabolism by hepcidin. Annu Rev Nutr 2006, 26:323-342.
    • (2006) Annu Rev Nutr , vol.26 , pp. 323-342
    • Nemeth, E.1    Ganz, T.2
  • 27
    • 0038662619 scopus 로고    scopus 로고
    • Hepcidin, a putative mediator 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 inflammation, is a type II acute-phase protein. Blood 2003, 101:2461-2463.
    • (2003) Blood , vol.101 , pp. 2461-2463
    • Nemeth, E.1    Valore, E.V.2    Territo, M.3    Schiller, G.4    Lichtenstein, A.5    Ganz, T.6
  • 28
    • 28444488323 scopus 로고    scopus 로고
    • Presence of the iron exporter ferroportin at the plasma membrane of macrophage is enhanced by iron loading and down-regulated by hepcidin
    • Delaby C., Pilard N., Gonclaves A.S., Beaumont C., Canonne-Hergaux F. Presence of the iron exporter ferroportin at the plasma membrane of macrophage is enhanced by iron loading and down-regulated by hepcidin. Blood 2005, 106:3979-3984.
    • (2005) Blood , vol.106 , pp. 3979-3984
    • Delaby, C.1    Pilard, N.2    Gonclaves, A.S.3    Beaumont, C.4    Canonne-Hergaux, F.5
  • 30
    • 0036791486 scopus 로고    scopus 로고
    • The gene encoding the iron regulatory peptide hepcidin is regulated by anemia, hypoxia and inflammation
    • Nicolas G., Chauvet C., Viattel L., Danan J.L., Bigard X., Devaux I., et al. The gene encoding the iron regulatory peptide hepcidin is regulated by anemia, hypoxia and inflammation. J Clin Invest 2002, 110:1037-1044.
    • (2002) J Clin Invest , vol.110 , pp. 1037-1044
    • Nicolas, G.1    Chauvet, C.2    Viattel, L.3    Danan, J.L.4    Bigard, X.5    Devaux, I.6
  • 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., Vaughn M.B., Ward D.M., Ganz T., et al. Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization. Science 2004, 306:2090-2093.
    • (2004) Science , vol.306 , pp. 2090-2093
    • Nemeth, E.1    Tuttle, M.S.2    Powelson, J.3    Vaughn, M.B.4    Ward, D.M.5    Ganz, T.6
  • 32
    • 34250865977 scopus 로고    scopus 로고
    • The molecular mechanism of hepcidin-mediated internalization of ferroportin down-regulation
    • De Domenico I., Ward D.M., Langelier C. The molecular mechanism of hepcidin-mediated internalization of ferroportin down-regulation. Mol Biol Cell 2007, 18:2569-2578.
    • (2007) Mol Biol Cell , vol.18 , pp. 2569-2578
    • De Domenico, I.1    Ward, D.M.2    Langelier, C.3
  • 33
    • 62649135982 scopus 로고    scopus 로고
    • Hepcidin-induced internalization of ferroportin requires binding and cooperative interaction with Jak2
    • De Domenico I., Lo E., Ward D.M., Kaplan J. Hepcidin-induced internalization of ferroportin requires binding and cooperative interaction with Jak2. Proc Natl Acad Sci U S A 2009, 106:3800-3805.
    • (2009) Proc Natl Acad Sci U S A , vol.106 , pp. 3800-3805
    • De Domenico, I.1    Lo, E.2    Ward, D.M.3    Kaplan, J.4
  • 34
    • 84862007363 scopus 로고    scopus 로고
    • Molecular mechanism of hepcidin-mediated ferroportin internalization requires ferroportin lysines, not tyrosine or JAK-STAT
    • Ross S.L., Tran L., Winters A., Lee K.J., Plewa C., Foltz I., et al. Molecular mechanism of hepcidin-mediated ferroportin internalization requires ferroportin lysines, not tyrosine or JAK-STAT. Cell Metab 2012, 15:905-917.
    • (2012) Cell Metab , vol.15 , pp. 905-917
    • Ross, S.L.1    Tran, L.2    Winters, A.3    Lee, K.J.4    Plewa, C.5    Foltz, I.6
  • 36
    • 10344246056 scopus 로고    scopus 로고
    • Ferroportin gene silencing induces iron retention and enhances ferritin synthesis in human macrophages
    • Galli A., Bergamaschi G., Recalde H., Biasiotto G., Santambrogio P., Boggi S., et al. Ferroportin gene silencing induces iron retention and enhances ferritin synthesis in human macrophages. Br J Haematol 2004, 127:598-603.
    • (2004) Br J Haematol , vol.127 , pp. 598-603
    • Galli, A.1    Bergamaschi, G.2    Recalde, H.3    Biasiotto, G.4    Santambrogio, P.5    Boggi, S.6
  • 37
    • 67749109895 scopus 로고    scopus 로고
    • Hepcidin decreases iron transporter expression in vivo in mouse duodenum and spleen and in vitro THP-1 macrophages and intestinal Caco-2 cells
    • Chung B., Chaston T., Marks J., Surjit K.S., Sharp P.A. Hepcidin decreases iron transporter expression in vivo in mouse duodenum and spleen and in vitro THP-1 macrophages and intestinal Caco-2 cells. J Nutr 2009, 139:1457-1462.
    • (2009) J Nutr , vol.139 , pp. 1457-1462
    • Chung, B.1    Chaston, T.2    Marks, J.3    Surjit, K.S.4    Sharp, P.A.5
  • 38
    • 77955005442 scopus 로고    scopus 로고
    • Hepcidin mediates transcriptional changes that modulate acute cytokine-induced inflammatory responses in mice
    • De Domenico I., Zhang T.Y., Koening C.L., Branch R.W., London N., Lo E., et al. Hepcidin mediates transcriptional changes that modulate acute cytokine-induced inflammatory responses in mice. J Clin Invest 2010, 120:2395-2405.
    • (2010) J Clin Invest , vol.120 , pp. 2395-2405
    • De Domenico, I.1    Zhang, T.Y.2    Koening, C.L.3    Branch, R.W.4    London, N.5    Lo, E.6
  • 39
    • 0033517341 scopus 로고    scopus 로고
    • Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene
    • Pietrangelo A., Montosi G., Totaro A., Garuti C., Conte D., Cassanelli S., et al. Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene. N Engl J Med 1999, 341:725-732.
    • (1999) N Engl J Med , vol.341 , pp. 725-732
    • Pietrangelo, A.1    Montosi, G.2    Totaro, A.3    Garuti, C.4    Conte, D.5    Cassanelli, S.6
  • 40
    • 17944380796 scopus 로고    scopus 로고
    • Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene
    • Montosi G., Donovan A., Totaro A., Garuti C., Pignatti E., Cassanelli S., et al. Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. J Clin Invest 2001, 108:619-623.
    • (2001) J Clin Invest , vol.108 , pp. 619-623
    • Montosi, G.1    Donovan, A.2    Totaro, A.3    Garuti, C.4    Pignatti, E.5    Cassanelli, S.6
  • 41
    • 0037100382 scopus 로고    scopus 로고
    • Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin gene 1 (SLC11A3)
    • Devalia V., Carter K., Walker A.P., Perkins S.J., Worwood M., May A., et al. Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin gene 1 (SLC11A3). Blood 2002, 100:695-697.
    • (2002) Blood , vol.100 , pp. 695-697
    • Devalia, V.1    Carter, K.2    Walker, A.P.3    Perkins, S.J.4    Worwood, M.5    May, A.6
  • 42
    • 0037100517 scopus 로고    scopus 로고
    • Novel mutation in ferroportin 1 is associated with autosomal dominant hemochromatosis
    • Wallace D.F., Pedersen P., Dixon J.L., Stephenson P., Searle J.W., Powell L.W., et al. Novel mutation in ferroportin 1 is associated with autosomal dominant hemochromatosis. Blood 2002, 100:692-694.
    • (2002) Blood , vol.100 , pp. 692-694
    • Wallace, D.F.1    Pedersen, P.2    Dixon, J.L.3    Stephenson, P.4    Searle, J.W.5    Powell, L.W.6
  • 44
    • 18744400781 scopus 로고    scopus 로고
    • Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3)
    • Cazzola M., Cremonesi L., Papaioannou M., Soriani N., Kioumi A., Charalambdou A., 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, 119:539-546.
    • (2002) Br J Haematol , vol.119 , pp. 539-546
    • Cazzola, M.1    Cremonesi, L.2    Papaioannou, M.3    Soriani, N.4    Kioumi, A.5    Charalambdou, A.6
  • 45
    • 0742272103 scopus 로고    scopus 로고
    • The ferroportin disease
    • Pietrangelo A. The ferroportin disease. Blood Cells Mol Dis 2004, 32:131-138.
    • (2004) Blood Cells Mol Dis , vol.32 , pp. 131-138
    • Pietrangelo, A.1
  • 46
    • 14544267566 scopus 로고    scopus 로고
    • Role of ferritin and ferroportin genes in unexplained hyperferritinemia
    • Cazzola M. Role of ferritin and ferroportin genes in unexplained hyperferritinemia. Best Pract Res Clin Haematol 2005, 18:251-263.
    • (2005) Best Pract Res Clin Haematol , vol.18 , pp. 251-263
    • Cazzola, M.1
  • 49
    • 0038536855 scopus 로고    scopus 로고
    • 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
    • Rivard S.R., Lanzara C., Grimand D., Carella M., Simard H., Ficarella 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, 88:824-826.
    • (2003) Haematologica , vol.88 , pp. 824-826
    • Rivard, S.R.1    Lanzara, C.2    Grimand, D.3    Carella, M.4    Simard, H.5    Ficarella, R.6
  • 52
    • 33644873239 scopus 로고    scopus 로고
    • Ferroportin (Q248H) mutations in African families with dietary iron overload
    • McNamara L., Gordeuk V.R., MacPhail A.P. Ferroportin (Q248H) mutations in African families with dietary iron overload. J Gastroenterol Hepatol 2005, 20:1855-1858.
    • (2005) J Gastroenterol Hepatol , vol.20 , pp. 1855-1858
    • McNamara, L.1    Gordeuk, V.R.2    MacPhail, A.P.3
  • 53
    • 34047198023 scopus 로고    scopus 로고
    • Association of ferroportin Q248H polymorphism with elevated levels of serum ferritin in African Americans in the Hemochromatosis and Iron Overload Screening (HEIRS) Study
    • Rivers C.A., Barton J.C., Gordeuk V.R., Acton R.T., Speechley M.R., Snively B.M., et al. Association of ferroportin Q248H polymorphism with elevated levels of serum ferritin in African Americans in the Hemochromatosis and Iron Overload Screening (HEIRS) Study. Blood Cells Mol Dis 2007, 38:247-252.
    • (2007) Blood Cells Mol Dis , vol.38 , pp. 247-252
    • Rivers, C.A.1    Barton, J.C.2    Gordeuk, V.R.3    Acton, R.T.4    Speechley, M.R.5    Snively, B.M.6
  • 54
    • 67651083585 scopus 로고    scopus 로고
    • Hereditary hemochromatosis due to resistance to hepcidin: high hepcidin concentrations in a family with C326S ferroportin mutation
    • Sham R.L., Phatak P.D., Nemeth E., Ganz T. Hereditary hemochromatosis due to resistance to hepcidin: high hepcidin concentrations in a family with C326S ferroportin mutation. Blood 2009, 114:493-494.
    • (2009) Blood , vol.114 , pp. 493-494
    • Sham, R.L.1    Phatak, P.D.2    Nemeth, E.3    Ganz, T.4
  • 55
    • 50549095186 scopus 로고    scopus 로고
    • Clinical, pathological, and molecular correlates in ferroportin disease. A study of two novel mutations
    • Girelli D., De Domenico I., Bozzini C., Campostrini N., Busti F., Castagna A., et al. Clinical, pathological, and molecular correlates in ferroportin disease. A study of two novel mutations. J Hepatol 2008, 49:664-671.
    • (2008) J Hepatol , vol.49 , pp. 664-671
    • Girelli, D.1    De Domenico, I.2    Bozzini, C.3    Campostrini, N.4    Busti, F.5    Castagna, A.6
  • 56
    • 27844470641 scopus 로고    scopus 로고
    • A Japanese family with ferroportin disease caused by a novel mutation of SLC40A1 gene: hyperferritinemia associated with a relatively low transferrin saturation iron
    • Koyama C., Wakusawa S., Hayashi H., Ueno T., Suzuki R., Yano M., et al. A Japanese family with ferroportin disease caused by a novel mutation of SLC40A1 gene: hyperferritinemia associated with a relatively low transferrin saturation iron. Intern Med 2005, 44:990-993.
    • (2005) Intern Med , vol.44 , pp. 990-993
    • Koyama, C.1    Wakusawa, S.2    Hayashi, H.3    Ueno, T.4    Suzuki, R.5    Yano, M.6
  • 57
  • 58
    • 70349904431 scopus 로고    scopus 로고
    • A novel missense mutation in SLC40A1 results in resistance to hepcidin and confirms the existence of two ferroportin-associated iron overload diseases
    • Létocart E., Le Gac G., Majore S., Ka C., Radio F.C., Gourlaouen I., et al. A novel missense mutation in SLC40A1 results in resistance to hepcidin and confirms the existence of two ferroportin-associated iron overload diseases. Br J Haematol 2009, 147:379-385.
    • (2009) Br J Haematol , vol.147 , pp. 379-385
    • Létocart, E.1    Le Gac, G.2    Majore, S.3    Ka, C.4    Radio, F.C.5    Gourlaouen, I.6
  • 59
    • 79958155355 scopus 로고    scopus 로고
    • Identification of mutations in SLC40A1 that affect ferroportin function and phenotype of human ferroportin iron overload
    • Mayr R., Griffiths W.J., Hermann M., McFarlane I., Halsall D.J., Finkenstedt A., et al. Identification of mutations in SLC40A1 that affect ferroportin function and phenotype of human ferroportin iron overload. Gastroenterology 2011, 140:2056-2063.
    • (2011) Gastroenterology , vol.140 , pp. 2056-2063
    • Mayr, R.1    Griffiths, W.J.2    Hermann, M.3    McFarlane, I.4    Halsall, D.J.5    Finkenstedt, A.6
  • 60
  • 61
    • 0037622887 scopus 로고    scopus 로고
    • A novel mutation in ferroportin 1 is associated with haemochromatosis in a Solomon Islands patient
    • Arden K.E., Wallace D.F., Dixon J.L., Summerville L., Searle J.W., Anderson G.J., et al. A novel mutation in ferroportin 1 is associated with haemochromatosis in a Solomon Islands patient. Gut 2003, 52:1215-1217.
    • (2003) Gut , vol.52 , pp. 1215-1217
    • Arden, K.E.1    Wallace, D.F.2    Dixon, J.L.3    Summerville, L.4    Searle, J.W.5    Anderson, G.J.6
  • 62
    • 0037860450 scopus 로고    scopus 로고
    • Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations
    • 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 3 new ferroportin (slc11A3) mutations. Blood 2003, 102:1904-1910.
    • (2003) Blood , vol.102 , pp. 1904-1910
    • Hetet, G.1    Devaux, I.2    Soufir, N.3    Grandchamp, B.4    Beaumont, C.5
  • 65
    • 84870996649 scopus 로고    scopus 로고
    • Reduced sensitivity of the ferroportin Q248H mutant to physiologic concentrations of hepcidin
    • (Epub ahead of print), O 12
    • Nekhai S., Xu M., Foster A., Kasvosve I., Diaz S., Machado R.F., et al. Reduced sensitivity of the ferroportin Q248H mutant to physiologic concentrations of hepcidin. Haematologica Oct 12 2012, (Epub ahead of print).
    • (2012) Haematologica
    • Nekhai, S.1    Xu, M.2    Foster, A.3    Kasvosve, I.4    Diaz, S.5    Machado, R.F.6
  • 66
    • 13844270538 scopus 로고    scopus 로고
    • Autosomal dominant hereditary hemochromatosis associated with a novel ferroportin mutation and unique clinical features
    • Sham R.L., Phatak P.D., West C., Lee P., Andrews C., Beutler E. Autosomal dominant hereditary hemochromatosis associated with a novel ferroportin mutation and unique clinical features. Blood Cells Mol Dis 2005, 34:157-161.
    • (2005) Blood Cells Mol Dis , vol.34 , pp. 157-161
    • Sham, R.L.1    Phatak, P.D.2    West, C.3    Lee, P.4    Andrews, C.5    Beutler, E.6
  • 67
    • 10744232713 scopus 로고    scopus 로고
    • Iron overload in Africans and African-Americans and a common mutation in the SCL 40A1 (ferroportin 1) gene
    • Gordeuk V.R., Caleffi A., Corradini E., Ferrara F., Jones R.A., Castro O., et al. Iron overload in Africans and African-Americans and a common mutation in the SCL 40A1 (ferroportin 1) gene. Blood Cells Mol Dis 2003, 31:299-304.
    • (2003) Blood Cells Mol Dis , vol.31 , pp. 299-304
    • Gordeuk, V.R.1    Caleffi, A.2    Corradini, E.3    Ferrara, F.4    Jones, R.A.5    Castro, O.6
  • 69
    • 79953084701 scopus 로고    scopus 로고
    • SLC40A1 Q248H allele frequencies and associated SLC40A1 haplotypes in three West African Population samples
    • Albuquerque D., Manco L., Loua K.M., Arez A.P., Trovoada Mde J., Relvas L., et al. SLC40A1 Q248H allele frequencies and associated SLC40A1 haplotypes in three West African Population samples. Ann Hum Biol 2011, 38:378-381.
    • (2011) Ann Hum Biol , vol.38 , pp. 378-381
    • Albuquerque, D.1    Manco, L.2    Loua, K.M.3    Arez, A.P.4    Trovoada Mde, J.5    Relvas, L.6
  • 70
    • 84862694426 scopus 로고    scopus 로고
    • Ferroportin (SLC40A1) Q248H mutation is associated with lower circulating serum hepcidin levels in Rwandese HIV positive women
    • Masaisa F., Breman C., Gahutu J.B., Mukiibi J., Delanghe J., Philippe J. Ferroportin (SLC40A1) Q248H mutation is associated with lower circulating serum hepcidin levels in Rwandese HIV positive women. Ann Hematol 2012, 91:911-916.
    • (2012) Ann Hematol , vol.91 , pp. 911-916
    • Masaisa, F.1    Breman, C.2    Gahutu, J.B.3    Mukiibi, J.4    Delanghe, J.5    Philippe, J.6
  • 72
    • 0003014286 scopus 로고
    • The anemia of infection I. Hypoferremia, hypercupremia, and alterations in porphyrin metabolism in patients
    • Cartwright G.E., Lauritsen M.A., Jones P.J., Merill I.M., Wintrobe M.M. The anemia of infection I. Hypoferremia, hypercupremia, and alterations in porphyrin metabolism in patients. J Clin Invest 1946, 25:65-80.
    • (1946) J Clin Invest , vol.25 , pp. 65-80
    • Cartwright, G.E.1    Lauritsen, M.A.2    Jones, P.J.3    Merill, I.M.4    Wintrobe, M.M.5
  • 73
    • 70349325941 scopus 로고    scopus 로고
    • Iron sequestration and anemia of inflammation
    • Ganz T., Nemeth E. Iron sequestration and anemia of inflammation. Semin Hematol 2009, 46:387-393.
    • (2009) Semin Hematol , vol.46 , pp. 387-393
    • Ganz, T.1    Nemeth, E.2
  • 74
    • 13444252281 scopus 로고    scopus 로고
    • Iron release from macrophages after erythrophagocytosis is up-regulated by ferroportin 1 overexpression and down-regulated by hepcidin
    • Knutson M.D., Oukka M., Koss L.M., Aydemir F., Wessling-Resnick M. Iron release from macrophages after erythrophagocytosis is up-regulated by ferroportin 1 overexpression and down-regulated by hepcidin. PNAS 2005, 102:1324-1328.
    • (2005) PNAS , vol.102 , pp. 1324-1328
    • Knutson, M.D.1    Oukka, M.2    Koss, L.M.3    Aydemir, F.4    Wessling-Resnick, M.5
  • 75
    • 34547863499 scopus 로고    scopus 로고
    • The coordinated regulation of iron homeostasis in murine macrophages limits the availability of iron for intracellular Salmonella typhimurium
    • Nairz M., Theurl I., Ludwiczek S., Theurl M., Mair S.M., Fritsche G., et al. The coordinated regulation of iron homeostasis in murine macrophages limits the availability of iron for intracellular Salmonella typhimurium. Cell Microbiol 2007, 9:2126-2140.
    • (2007) Cell Microbiol , vol.9 , pp. 2126-2140
    • Nairz, M.1    Theurl, I.2    Ludwiczek, S.3    Theurl, M.4    Mair, S.M.5    Fritsche, G.6
  • 80
    • 84858189042 scopus 로고    scopus 로고
    • Polymorphisms in the gene that encodes the iron transport protein ferroportin 1 influence susceptibility to tuberculosis
    • Baker M.A., Wilson D., Wallengren K., Sandgren A., Iartchouk O., Broodie N., et al. Polymorphisms in the gene that encodes the iron transport protein ferroportin 1 influence susceptibility to tuberculosis. J Infect Dis 2012, 205:1043-1047.
    • (2012) J Infect Dis , vol.205 , pp. 1043-1047
    • Baker, M.A.1    Wilson, D.2    Wallengren, K.3    Sandgren, A.4    Iartchouk, O.5    Broodie, N.6
  • 81
    • 77954144132 scopus 로고    scopus 로고
    • Ferroportin (SLC40A1) Q248H mutation is associated with lower circulating plasma tumor necrosis factor-alpha and macrophage migration inhibitory factor concentrations in African children
    • Kasvosve I., Debebe Z., Nekhai S., Gordeuk V.R. Ferroportin (SLC40A1) Q248H mutation is associated with lower circulating plasma tumor necrosis factor-alpha and macrophage migration inhibitory factor concentrations in African children. Clin Chim Acta 2010, 411:1248-1252.
    • (2010) Clin Chim Acta , vol.411 , pp. 1248-1252
    • Kasvosve, I.1    Debebe, Z.2    Nekhai, S.3    Gordeuk, V.R.4


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