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Volumn 31, Issue 3, 2009, Pages 192-202

Molecular changes associated with hereditary hemochromatosis;Alterações moleculares associadas à hemocromatose hereditária

Author keywords

HAMP; Hereditary hemochromatosis; HFE; Iron overload; Mutations; TFR2

Indexed keywords


EID: 77952634792     PISSN: 15168484     EISSN: None     Source Type: Journal    
DOI: 10.1590/S1516-84842009005000051     Document Type: Review
Times cited : (5)

References (104)
  • 1
    • 34547154545 scopus 로고    scopus 로고
    • Disorders of iron metabolism
    • th ed. New York: MacGraw-Hill, cap.40
    • th ed. New York: MacGraw-Hill, 2006. cap.40.
    • (2006) Williams Hematology
    • Beutler, E.1
  • 2
    • 10844258104 scopus 로고    scopus 로고
    • Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization
    • Nemeth E, Tuttle MS, Powelson J, Vaughn MB, Donovan A, Ward DM, et al. Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization. Science. 2004;306 (5704):2090-3.
    • (2004) Science , vol.306 , Issue.5704 , pp. 2090-2093
    • Nemeth, E.1    Tuttle, M.S.2    Powelson, J.3    Vaughn, M.B.4    Donovan, A.5    Ward, D.M.6
  • 4
    • 27644455133 scopus 로고    scopus 로고
    • Identification of a ferrireductase required for efficient transferrin-dependent iron uptake in erythroid cells
    • Ohgami RS, Campagna DR, Greer EL, Antiochos B, McDonald A, Chen J, et al. Identification of a ferrireductase required for efficient transferrin-dependent iron uptake in erythroid cells. Nat Genet. 2005;37(11):1264-9.
    • (2005) Nat Genet , vol.37 , Issue.11 , pp. 1264-1269
    • Ohgami, R.S.1    Campagna, D.R.2    Greer, E.L.3    Antiochos, B.4    McDonald, A.5    Chen, J.6
  • 5
    • 0032189835 scopus 로고    scopus 로고
    • Iron release from human monocytes after erythrophagocytosis in vitro: An investigation in normal subjects and hereditary hemochromatosis patients
    • Moura E, Noordermeer MA, Verhoeven N, Verheul AF, Marx JJ. Iron release from human monocytes after erythrophagocytosis in vitro: an investigation in normal subjects and hereditary hemochromatosis patients. Blood. 1998;92(7):2511-9.
    • (1998) Blood , vol.92 , Issue.7 , pp. 2511-2519
    • Moura, E.1    Noordermeer, M.A.2    Verhoeven, N.3    Verheul, A.F.4    Marx, J.J.5
  • 6
    • 34248673710 scopus 로고    scopus 로고
    • Regulation of systemic iron homeostasis: How the body responds to changes in iron demand
    • Anderson GJ, Darshan D, Wilkins SJ, Frazer DM. Regulation of systemic iron homeostasis: how the body responds to changes in iron demand. Biometals. 2007;20(3-4):665-74.
    • (2007) Biometals , vol.20 , Issue.3-4 , pp. 665-674
    • Anderson, G.J.1    Darshan, D.2    Wilkins, S.J.3    Frazer, D.M.4
  • 7
    • 0031836302 scopus 로고    scopus 로고
    • Classification and diagnosis of iron overload
    • Piperno A. Classification and diagnosis of iron overload. Haematologica. 1998;83(5):447-55.
    • (1998) Haematologica , vol.83 , Issue.5 , pp. 447-455
    • Piperno, A.1
  • 8
    • 0036800592 scopus 로고    scopus 로고
    • A genetic view of iron homeostasis
    • Andrews NC. A genetic view of iron homeostasis. Semin Hematol. 2002;39(4):227-34.
    • (2002) Semin Hematol , vol.39 , Issue.4 , pp. 227-234
    • Andrews, N.C.1
  • 9
    • 28444466958 scopus 로고    scopus 로고
    • Understanding iron homeostasis through genetic analysis of hemochromatosis and related disorders
    • Camaschella C. Understanding iron homeostasis through genetic analysis of hemochromatosis and related disorders. Blood. 2005; 106 (12):3710-7.
    • (2005) Blood , vol.106 , Issue.12 , pp. 3710-3717
    • Camaschella, C.1
  • 13
    • 0017698209 scopus 로고
    • Idiopathic hemochromatosis. Demonstration of recessive transmission and early detection by family HLA typing
    • Simon M, Bourel M, Genetet B, Fauchet R. Idiopathic hemochromatosis. Demonstration of recessive transmission and early detection by family HLA typing. N Engl J Med. 1977;297(19): 1017-21.
    • (1977) N Engl J Med , vol.297 , Issue.19 , pp. 1017-1021
    • Simon, M.1    Bourel, M.2    Genetet, B.3    Fauchet, R.4
  • 14
    • 0023200271 scopus 로고
    • 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
    • Simon M, Le Mignon L, Fauchet R, Yaouanq J, David V, Edan G, et al. 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(2):89-105.
    • (1987) Am J Hum Genet , vol.41 , Issue.2 , pp. 89-105
    • Simon, M.1    le Mignon, L.2    Fauchet, R.3    Yaouanq, J.4    David, V.5    Edan, G.6
  • 15
    • 9344224529 scopus 로고    scopus 로고
    • A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
    • Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet. 1996;13(4):399-408.
    • (1996) Nat Genet , vol.13 , Issue.4 , pp. 399-408
    • Feder, J.N.1    Gnirke, A.2    Thomas, W.3    Tsuchihashi, Z.4    Ruddy, D.A.5    Basava, A.6
  • 16
    • 0033599057 scopus 로고    scopus 로고
    • Disorders of iron metabolism
    • Andrews NC. Disorders of iron metabolism. N Engl J Med. 1999; 341 (26):1986-95.
    • (1999) N Engl J Med , vol.341 , Issue.26 , pp. 1986-1995
    • Andrews, N.C.1
  • 17
    • 0036800649 scopus 로고    scopus 로고
    • Hereditary hemochromatosis
    • Ajioka RS, Kushner JP. Hereditary hemochromatosis. Semin Hematol. 2002;39(4):235-41.
    • (2002) Semin Hematol , vol.39 , Issue.4 , pp. 235-241
    • Ajioka, R.S.1    Kushner, J.P.2
  • 18
    • 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):2383-97.
    • (2004) N Engl J Med , vol.350 , Issue.23 , pp. 2383-2397
    • Pietrangelo, A.1
  • 20
    • 0036111254 scopus 로고    scopus 로고
    • Hereditary hemochromatosis and iron overload diseases
    • Powell LW. Hereditary hemochromatosis and iron overload diseases. J Gastroenterol Hepatol. 2002;17 Suppl:S191-5.
    • (2002) J Gastroenterol Hepatol , vol.17 , Issue.SUPPL.
    • Powell, L.W.1
  • 22
    • 0037217987 scopus 로고    scopus 로고
    • National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) Workshop. Noninvasive measurement of iron: Report of an NIDDK workshop
    • Brittenham GM, Badman DG; National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) Workshop. Noninvasive measurement of iron: report of an NIDDK workshop. Blood. 2003;101(1):15-9.
    • (2003) Blood , vol.101 , Issue.1 , pp. 15-19
    • Brittenham, G.M.1    Badman, D.G.2
  • 23
    • 18044399191 scopus 로고    scopus 로고
    • Cardiovascular T2-star (T2*) magnetic resonance for the early diagnosis of myocardial iron overload
    • Anderson LJ, Holden S, Davis B, Prescott E, Charrier CC, Bunce NH, et al. Cardiovascular T2-star (T2*) magnetic resonance for the early diagnosis of myocardial iron overload. Eur Heart J. 2001; 22 (23):2171-9.
    • (2001) Eur Heart J , vol.22 , Issue.23 , pp. 2171-2179
    • Anderson, L.J.1    Holden, S.2    Davis, B.3    Prescott, E.4    Charrier, C.C.5    Bunce, N.H.6
  • 24
    • 38049105797 scopus 로고    scopus 로고
    • Sobrecarga e quelação de ferro na anemia falciforme
    • Cançado RD. Sobrecarga e quelação de ferro na anemia falciforme. Rev. Bras. Hematol. Hemoter. 2007;29(3):316-26.
    • (2007) Rev. Bras. Hematol. Hemoter , vol.29 , Issue.3 , pp. 316-326
    • Cançado, R.D.1
  • 27
    • 41549119562 scopus 로고    scopus 로고
    • Estudo das mutações C282Y, H63D e S65C do gene HFE em doentes brasileiros com sobrecarga de ferro
    • Cançado RD, Guglielmi ACO, Vergueiro CSV, et al. Estudo das mutações C282Y, H63D e S65C do gene HFE em doentes brasileiros com sobrecarga de ferro. Rev. Bras. Hematol. Hemoter 2007; 29 (4):351-60.
    • (2007) Rev. Bras. Hematol. Hemoter , vol.29 , Issue.4 , pp. 351-360
    • Cançado, R.D.1    Guglielmi, A.C.O.2    Vergueiro, C.S.V.3
  • 28
    • 0030604479 scopus 로고    scopus 로고
    • Practice guideline development task force of the College of American Pathologists. Hereditary hemochromatosis
    • Witte DL, Crosby WH, Edwards CQ, Fairbanks VF, Mitros FA. Practice guideline development task force of the College of American Pathologists. Hereditary hemochromatosis. Clin Chim Acta. 1996;245(2):139-200.
    • (1996) Clin Chim Acta , vol.245 , Issue.2 , pp. 139-200
    • Witte, D.L.1    Crosby, W.H.2    Edwards, C.Q.3    Fairbanks, V.F.4    Mitros, F.A.5
  • 29
    • 0038542813 scopus 로고    scopus 로고
    • The HFE Cys282Tyr mutation as a necessary but not sufficient cause of clinical hereditary hemochromatosis
    • Beutler E. The HFE Cys282Tyr mutation as a necessary but not sufficient cause of clinical hereditary hemochromatosis. Blood. 2003;101(9):3347-50.
    • (2003) Blood , vol.101 , Issue.9 , pp. 3347-3350
    • Beutler, E.1
  • 30
  • 32
    • 1642380179 scopus 로고    scopus 로고
    • Is genetic screening for hemochromatosis worthwhile?
    • Njajou OT, Alizadeh BZ, van Duijn CM. Is genetic screening for hemochromatosis worthwhile? Eur J Epidemiol. 2004;19(2):101-8.
    • (2004) Eur J Epidemiol , vol.19 , Issue.2 , pp. 101-108
    • Njajou, O.T.1    Alizadeh, B.Z.2    van Duijn, C.M.3
  • 33
    • 0033650606 scopus 로고    scopus 로고
    • Advances in iron chelating therapy
    • Franchini M, Gandini G, Aprili G. Advances in iron chelating therapy. Haematologica. 2000;85(11):1122-5.
    • (2000) Haematologica , vol.85 , Issue.11 , pp. 1122-1125
    • Franchini, M.1    Gandini, G.2    Aprili, G.3
  • 34
    • 4544237005 scopus 로고    scopus 로고
    • Iron-chelation therapy: An update
    • Franchini M, Veneri D. Iron-chelation therapy: an update. Hematol J. 2004;5(4):287-92.
    • (2004) Hematol J , vol.5 , Issue.4 , pp. 287-292
    • Franchini, M.1    Veneri, D.2
  • 35
    • 0003436550 scopus 로고    scopus 로고
    • OMIM, accessed 02 April
    • OMIM. Online Mendelian Inheritance in Man. http://www.ncbi.nlm.nih.gov/entrez/OMIM (accessed 02 April 2008).
    • (2008) Online Mendelian Inheritance In Man
  • 37
    • 0035896642 scopus 로고    scopus 로고
    • Hepcidin, a urinary antimicrobial peptide synthesized in the liver
    • Park CH, Valore EV, Waring AJ, Ganz T, et al. Hepcidin, a urinary antimicrobial peptide synthesized in the liver. J Biol Chem. 2001;276(11):7806-10.
    • (2001) J Biol Chem , vol.276 , Issue.11 , pp. 7806-7810
    • Park, C.H.1    Valore, E.V.2    Waring, A.J.3    Ganz, T.4
  • 38
    • 0033597780 scopus 로고    scopus 로고
    • Molecular cloning of transferrin receptor 2. A new member of the transferrin receptor-like family
    • Kawabata H, Yang R, Hirama T, Vuong PT, Kawano S, Gombart AF, et al. Molecular cloning of transferrin receptor 2. A new member of the transferrin receptor-like family. J Biol Chem. 1999;274(30):20826-32.
    • (1999) J Biol Chem , vol.274 , Issue.30 , pp. 20826-20832
    • Kawabata, H.1    Yang, R.2    Hirama, T.3    Vuong, P.T.4    Kawano, S.5    Gombart, A.F.6
  • 39
    • 0034677467 scopus 로고    scopus 로고
    • Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter
    • Donovan A, Brownlie A, Zhou Y, Shepard J, Pratt SJ, Moynihan J, et al. Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter. Nature. 2000;403 (6771): 776-81.
    • (2000) Nature , vol.403 , Issue.6771 , pp. 776-781
    • Donovan, A.1    Brownlie, A.2    Zhou, Y.3    Shepard, J.4    Pratt, S.J.5    Moynihan, J.6
  • 40
    • 33645112972 scopus 로고    scopus 로고
    • Molecular insights into the pathogenesis of hereditary haemochromatosis
    • Pietrangelo A. Molecular insights into the pathogenesis of hereditary haemochromatosis. Gut. 2006;55(4):564-8.
    • (2006) Gut , vol.55 , Issue.4 , pp. 564-568
    • Pietrangelo, A.1
  • 41
    • 13144282684 scopus 로고    scopus 로고
    • The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding
    • Feder JN, Penny DM, Irrinki A, Lee VK, Lebrón JA, Watson N, et al. The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc Natl Acad Sci U S A. 1998;95(4):1472-7.
    • (1998) Proc Natl Acad Sci U S A , vol.95 , Issue.4 , pp. 1472-1477
    • Feder, J.N.1    Penny, D.M.2    Irrinki, A.3    Lee, V.K.4    Lebrón, J.A.5    Watson, N.6
  • 42
    • 0033574075 scopus 로고    scopus 로고
    • Association of HFE protein with transferrin receptor in crypt enterocytes of human duodenum
    • Waheed A, Parkkila S, Saarnio J, Fleming RE, Zhou XY, Tomatsu S, et al. Association of HFE protein with transferrin receptor in crypt enterocytes of human duodenum. Proc Natl Acad Sci USA. 1999;96(4):1579-84.
    • (1999) Proc Natl Acad Sci USA , vol.96 , Issue.4 , pp. 1579-1584
    • Waheed, A.1    Parkkila, S.2    Saarnio, J.3    Fleming, R.E.4    Zhou, X.Y.5    Tomatsu, S.6
  • 43
    • 0037460697 scopus 로고    scopus 로고
    • Disrupted hepcidin regulation in HFE-associated haemochromatosis and the liver as a regulator of body iron homoeostasis
    • Bridle KR, Frazer DM, Wilkins SJ, Dixon JL, Purdie DM, Crawford DH, et al. Disrupted hepcidin regulation in HFE-associated haemochromatosis and the liver as a regulator of body iron homoeostasis. Lancet. 2003;361(9358):669-73.
    • (2003) Lancet , vol.361 , Issue.9358 , pp. 669-673
    • Bridle, K.R.1    Frazer, D.M.2    Wilkins, S.J.3    Dixon, J.L.4    Purdie, D.M.5    Crawford, D.H.6
  • 44
    • 0037847496 scopus 로고    scopus 로고
    • Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis
    • Nicolas G, Viatte L, Lou DQ, Bennoun M, Beaumont C, Kahn A, 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    Bennoun, M.4    Beaumont, C.5    Kahn, A.6
  • 48
    • 34547167514 scopus 로고    scopus 로고
    • Mutations in the HFE gene (C282Y, H63D, S65C) in a Brazilian population
    • Bueno S, Duch CR, Figueiredo MS. Mutations in the HFE gene (C282Y, H63D, S65C) in a Brazilian population. Rev. Bras. Hematol. Hemoter. 2006;28(4):293-5.
    • (2006) Rev. Bras. Hematol. Hemoter , vol.28 , Issue.4 , pp. 293-295
    • Bueno, S.1    Duch, C.R.2    Figueiredo, M.S.3
  • 49
    • 77952601943 scopus 로고    scopus 로고
    • Relação entre mutações no gene HFE e TFR2 e alterações nos parâmetros de ferro segundo a frequência de doação em doadores de sangue
    • Santos PCJL, Cançado RD, Terada CT, et al. Relação entre mutações no gene HFE e TFR2 e alterações nos parâmetros de ferro segundo a frequência de doação em doadores de sangue. Rev Bras Hematol Hemoter. 2008;30(4):21.
    • (2008) Rev Bras Hematol Hemoter , vol.30 , Issue.4 , pp. 21
    • Santos, P.C.J.L.1    Cançado, R.D.2    Terada, C.T.3
  • 50
    • 0036181423 scopus 로고    scopus 로고
    • Novel genes, proteins, and inherited disorders of iron overload: Iron metabolism is less boring than thought
    • Cazzola M. Novel genes, proteins, and inherited disorders of iron overload: iron metabolism is less boring than thought. Haematologica. 2002;87(2):115-6.
    • (2002) Haematologica , vol.87 , Issue.2 , pp. 115-116
    • Cazzola, M.1
  • 51
    • 0033066062 scopus 로고    scopus 로고
    • A genotypic study of 217 unrelated probands diagnosed as genetic hemochromatosis on classical phenotypic criteria
    • Brissot P, Moirand R, Jouanolle AM, Guyader D, Le Gall JY, Deugnier Y, et al. A genotypic study of 217 unrelated probands diagnosed as genetic hemochromatosis on classical phenotypic criteria. J Hepatol. 1999;30(4):588-93.
    • (1999) J Hepatol , vol.30 , Issue.4 , pp. 588-593
    • Brissot, P.1    Moirand, R.2    Jouanolle, A.M.3    Guyader, D.4    le Gall, J.Y.5    Deugnier, Y.6
  • 53
    • 2942749950 scopus 로고    scopus 로고
    • The impact of the mutations of the HFE gene and of the SLC11A3 gene on iron overload in Greek thalassemia intermedia and beta(s)/beta(thal) anemia patients
    • Politou M, Kalotychou V, Pissia M, Rombos Y, Sakellaropoulos N, Papanikolaou G, et al. The impact of the mutations of the HFE gene and of the SLC11A3 gene on iron overload in Greek thalassemia intermedia and beta(s)/beta(thal) anemia patients. Haematologica. 2004;89(4):490-2.
    • (2004) Haematologica , vol.89 , Issue.4 , pp. 490-492
    • Politou, M.1    Kalotychou, V.2    Pissia, M.3    Rombos, Y.4    Sakellaropoulos, N.5    Papanikolaou, G.6
  • 55
    • 0030827084 scopus 로고    scopus 로고
    • The significance of the 187G (H63D) mutation in hemochromatosis
    • Beutler E. The significance of the 187G (H63D) mutation in hemochromatosis. Am J Hum Genet. 1997;61(3):762-4.
    • (1997) Am J Hum Genet , vol.61 , Issue.3 , pp. 762-764
    • Beutler, E.1
  • 56
    • 0033561342 scopus 로고    scopus 로고
    • HFE mutations analysis in 711 hemochromatosis probands: Evidence for S65C implication in mild form of hemochromatosis
    • Mura C, Raguenes O, Férec C. HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis. Blood. 1999;93(8):2502-5.
    • (1999) Blood , vol.93 , Issue.8 , pp. 2502-2505
    • Mura, C.1    Raguenes, O.2    Férec, C.3
  • 57
    • 0033150066 scopus 로고    scopus 로고
    • Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands
    • Barton JC, Sawada-Hirai R, Rothenberg BE, Acton RT, et al. Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands. Blood Cells Mol Dis. 1999;25(3-4):147-55.
    • (1999) Blood Cells Mol Dis , vol.25 , Issue.3-4 , pp. 147-155
    • Barton, J.C.1    Sawada-Hirai, R.2    Rothenberg, B.E.3    Acton, R.T.4
  • 58
    • 0032478524 scopus 로고    scopus 로고
    • Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor
    • Lebrón JA, Bennett MJ, Vaughn DE, Chirino AJ, Snow PM, Mintier GA, et al. Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor. Cell. 1998;93(1):111-23.
    • (1998) Cell , vol.93 , Issue.1 , pp. 111-123
    • Lebrón, J.A.1    Bennett, M.J.2    Vaughn, D.E.3    Chirino, A.J.4    Snow, P.M.5    Mintier, G.A.6
  • 59
    • 17644434333 scopus 로고    scopus 로고
    • The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression
    • Feder JN, Tsuchihashi Z, Irrinki A, Lee VK, Mapa FA, Morikang E, et al. The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression. J Biol Chem. 1997;272(22):14025-8.
    • (1997) J Biol Chem , vol.272 , Issue.22 , pp. 14025-14028
    • Feder, J.N.1    Tsuchihashi, Z.2    Irrinki, A.3    Lee, V.K.4    Mapa, F.A.5    Morikang, E.6
  • 60
    • 0041422148 scopus 로고    scopus 로고
    • Mechanisms of HFE-induced regulation of iron homeostasis: Insights from the W81A HFE mutation
    • Zhang AS, Davies PS, Carlson HL, Enns CA. Mechanisms of HFE-induced regulation of iron homeostasis: Insights from the W81A HFE mutation. Proc Natl Acad Sci USA. 2003;100(16):9500-5.
    • (2003) Proc Natl Acad Sci USA , vol.100 , Issue.16 , pp. 9500-9505
    • Zhang, A.S.1    Davies, P.S.2    Carlson, H.L.3    Enns, C.A.4
  • 62
    • 14544268521 scopus 로고    scopus 로고
    • Molecular control of iron metabolism
    • Andrews NC. Molecular control of iron metabolism. Best Pract Res Clin Haematol. 2005;18(2):159-69.
    • (2005) Best Pract Res Clin Haematol , vol.18 , Issue.2 , pp. 159-169
    • Andrews, N.C.1
  • 63
    • 14544305473 scopus 로고    scopus 로고
    • New insights into iron homeostasis through the study of non-HFE hereditary haemochromatosis
    • Roetto A, Camaschella C. New insights into iron homeostasis through the study of non-HFE hereditary haemochromatosis. Best Pract Res Clin Haematol. 2005;18(2):235-50.
    • (2005) Best Pract Res Clin Haematol , vol.18 , Issue.2 , pp. 235-250
    • Roetto, A.1    Camaschella, C.2
  • 65
    • 0042097356 scopus 로고    scopus 로고
    • Juvenile hemochromatosis in the southeastern United States: A report of seven cases in two kinships
    • Barton JC, Rao SV, Pereira NM, Gelbart T, Beutler E, Rivers CA, et al. Juvenile hemochromatosis in the southeastern United States: a report of seven cases in two kinships. Blood Cells Mol Dis. 2002;29(1):104-15.
    • (2002) Blood Cells Mol Dis , vol.29 , Issue.1 , pp. 104-115
    • Barton, J.C.1    Rao, S.V.2    Pereira, N.M.3    Gelbart, T.4    Beutler, E.5    Rivers, C.A.6
  • 66
    • 2942619988 scopus 로고    scopus 로고
    • Genetic abnormalities and juvenile hemochromatosis: Mutations of the HJV gene encoding hemojuvelin
    • Lee PL, Beutler E, Rao SV, Barton JC. Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin. Blood. 2004;103(12):4669-71.
    • (2004) Blood , vol.103 , Issue.12 , pp. 4669-4671
    • Lee, P.L.1    Beutler, E.2    Rao, S.V.3    Barton, J.C.4
  • 68
    • 24744458603 scopus 로고    scopus 로고
    • Synthetic hepcidin causes rapid dose-dependent hypoferremia and is concentrated in ferroportin-containing organs
    • Rivera S, Nemeth E, Gabayan V, Lopez MA, Farshidi D, Ganz T. Synthetic hepcidin causes rapid dose-dependent hypoferremia and is concentrated in ferroportin-containing organs. Blood. 2005; 106 (6):2196-9.
    • (2005) Blood , vol.106 , Issue.6 , pp. 2196-2199
    • Rivera, S.1    Nemeth, E.2    Gabayan, V.3    Lopez, M.A.4    Farshidi, D.5    Ganz, T.6
  • 69
    • 27144459908 scopus 로고    scopus 로고
    • Competitive regulation of hepcidin mRNA by soluble and cell-associated hemojuvelin
    • Lin L, Goldberg YP, Ganz T. Competitive regulation of hepcidin mRNA by soluble and cell-associated hemojuvelin. Blood. 2005;106(8):2884-9.
    • (2005) Blood , vol.106 , Issue.8 , pp. 2884-2889
    • Lin, L.1    Goldberg, Y.P.2    Ganz, T.3
  • 70
    • 26644471267 scopus 로고    scopus 로고
    • Interaction of hemojuvelin with neogenin results in iron accumulation in human embryonic kidney 293 cells
    • Zhang AS, West AP Jr, Wyman AE, Bjorkman PJ, Enns CA. Interaction of hemojuvelin with neogenin results in iron accumulation in human embryonic kidney 293 cells. J Biol Chem. 2005;280(40):33885-94.
    • (2005) J Biol Chem , vol.280 , Issue.40 , pp. 33885-33894
    • Zhang, A.S.1    West Jr., A.P.2    Wyman, A.E.3    Bjorkman, P.J.4    Enns, C.A.5
  • 72
    • 0347356639 scopus 로고    scopus 로고
    • Hepcidin, the recently identified peptide that appears to regulate iron absorption
    • Leong WI, Lönnerdal B. Hepcidin, the recently identified peptide that appears to regulate iron absorption. J Nutr. 2004;134(1):1-4.
    • (2004) J Nutr , vol.134 , Issue.1 , pp. 1-4
    • Leong, W.I.1    Lönnerdal, B.2
  • 74
    • 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, Leroyer 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(11):7811-9.
    • (2001) J Biol Chem , vol.276 , Issue.11 , pp. 7811-7819
    • Pigeon, C.1    Ilyin, G.2    Courselaud, B.3    Leroyer, P.4    Turlin, B.5    Brissot, P.6
  • 76
    • 0037700765 scopus 로고    scopus 로고
    • Genetic disorders of iron overload and the novel ferroportin disease
    • Cazzola M. Genetic disorders of iron overload and the novel ferroportin disease. Haematologica. 2003;88(7):721-4.
    • (2003) Haematologica , vol.88 , Issue.7 , pp. 721-724
    • Cazzola, M.1
  • 77
    • 33646899011 scopus 로고    scopus 로고
    • Hereditary hemochromatosis: Genetic complexity and new diagnostic approaches
    • Swinkels DW, Janssen MC, Bergmans J, Marx JJ. Hereditary hemochromatosis: genetic complexity and new diagnostic approaches. Clin Chem. 2006;52(6):950-68.
    • (2006) Clin Chem , vol.52 , Issue.6 , pp. 950-968
    • Swinkels, D.W.1    Janssen, M.C.2    Bergmans, J.3    Marx, J.J.4
  • 78
    • 2542468736 scopus 로고    scopus 로고
    • Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis
    • Lanzara C, Roetto A, Daraio F, Rivard S, Ficarella R, Simard H, et al. Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis. Blood. 2004;103(11):4317-21.
    • (2004) Blood , vol.103 , Issue.11 , pp. 4317-4321
    • Lanzara, C.1    Roetto, A.2    Daraio, F.3    Rivard, S.4    Ficarella, R.5    Simard, H.6
  • 79
    • 20244388240 scopus 로고    scopus 로고
    • Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis
    • Roetto A, Papanikolaou G, Politou M, Alberti F, Girelli D, Christakis J, et al. Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. Nat Genet. 2003;33(1):21-2.
    • (2003) Nat Genet , vol.33 , Issue.1 , pp. 21-22
    • Roetto, A.1    Papanikolaou, G.2    Politou, M.3    Alberti, F.4    Girelli, D.5    Christakis, J.6
  • 82
    • 0035525741 scopus 로고    scopus 로고
    • Expression of transferrin receptor 2 in normal and neoplastic hematopoietic cells
    • 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(9):2714-9.
    • (2001) Blood , vol.98 , Issue.9 , pp. 2714-2719
    • Kawabata, H.1    Nakamaki, T.2    Ikonomi, P.3    Smith, R.D.4    Germain, R.S.5    Koeffler, H.P.6
  • 83
    • 0033597780 scopus 로고    scopus 로고
    • Molecular cloning of transferrin receptor 2. A new member of the transferrin receptor-like family
    • Kawabata H, Yang R, Hirama T, Vuong PT, Kawano S, Gombart AF, et al. Molecular cloning of transferrin receptor 2. A new member of the transferrin receptor-like family. J Biol Chem. 1999; 274 (30):20826-32.
    • (1999) J Biol Chem , vol.274 , Issue.30 , pp. 20826-20832
    • Kawabata, H.1    Yang, R.2    Hirama, T.3    Vuong, P.T.4    Kawano, S.5    Gombart, A.F.6
  • 84
    • 0037962795 scopus 로고    scopus 로고
    • The orchestration of body iron intake: How and where do enterocytes receive their cues?
    • Frazer DM, Anderson GJ. The orchestration of body iron intake: how and where do enterocytes receive their cues? Blood Cells Mol Dis. 2003;30(3):288-97.
    • (2003) Blood Cells Mol Dis , vol.30 , Issue.3 , pp. 288-297
    • Frazer, D.M.1    Anderson, G.J.2
  • 85
    • 21044434748 scopus 로고    scopus 로고
    • First phenotypic description of transferrin receptor 2 knockout mouse, and the role of hepcidin
    • Wallace DF, Summerville L, Lusby PE, Subramaniam VN. First phenotypic description of transferrin receptor 2 knockout mouse, and the role of hepcidin. Gut. 2005;54(7):980-6.
    • (2005) Gut , vol.54 , Issue.7 , pp. 980-986
    • Wallace, D.F.1    Summerville, L.2    Lusby, P.E.3    Subramaniam, V.N.4
  • 86
    • 4344600507 scopus 로고    scopus 로고
    • Hepcidin in iron metabolism
    • Ganz T. Hepcidin in iron metabolism. Curr Opin Hematol. 2004;11(4):251-4.
    • (2004) Curr Opin Hematol , vol.11 , Issue.4 , pp. 251-254
    • Ganz, T.1
  • 87
  • 88
    • 19944427107 scopus 로고    scopus 로고
    • Expression of hepcidin is down-regulated in TfR2 mutant mice manifesting a phenotype of hereditary hemochromatosis
    • Kawabata H, Fleming RE, Gui D, Moon SY, Saitoh T, O'Kelly J, et al. Expression of hepcidin is down-regulated in TfR2 mutant mice manifesting a phenotype of hereditary hemochromatosis. Blood. 2005;105(1):376-81.
    • (2005) Blood , vol.105 , Issue.1 , pp. 376-381
    • Kawabata, H.1    Fleming, R.E.2    Gui, D.3    Moon, S.Y.4    Saitoh, T.5    O'Kelly, J.6
  • 89
    • 0034022636 scopus 로고    scopus 로고
    • The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22
    • Camaschella C, Roetto A, Calì A, De Gobbi M, Garozzo G, Carella M, et al. The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22. Nat Genet. 2000;25(1):14-5.
    • (2000) Nat Genet , vol.25 , Issue.1 , pp. 14-15
    • Camaschella, C.1    Roetto, A.2    Calì, A.3    de Gobbi, M.4    Garozzo, G.5    Carella, M.6
  • 90
    • 0035353167 scopus 로고    scopus 로고
    • New mutations inactivating transferrin receptor 2 in hemochromatosis type 3
    • Roetto A, Totaro A, Piperno A, Piga A, Longo F, Garozzo G, et al. New mutations inactivating transferrin receptor 2 in hemochromatosis type 3. Blood. 2001;97(9):2555-60.
    • (2001) Blood , vol.97 , Issue.9 , pp. 2555-2560
    • Roetto, A.1    Totaro, A.2    Piperno, A.3    Piga, A.4    Longo, F.5    Garozzo, G.6
  • 91
    • 0036682965 scopus 로고    scopus 로고
    • Mutation analysis of transferrin-receptor 2 in patients with atypical hemochromatosis
    • Hofmann WK, Tong XJ, Ajioka RS, Kushner JP, Koeffler HP. Mutation analysis of transferrin-receptor 2 in patients with atypical hemochromatosis. Blood. 2002;100(3):1099-100.
    • (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
  • 92
    • 0036683019 scopus 로고    scopus 로고
    • Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: Identification of a novel TfR2 mutation
    • Mattman A, Huntsman D, Lockitch G, Langlois S, Buskard N, Ralston D, et al. Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation. Blood. 2002;100(3):1075-7.
    • (2002) Blood , vol.100 , Issue.3 , pp. 1075-1077
    • Mattman, A.1    Huntsman, D.2    Lockitch, G.3    Langlois, S.4    Buskard, N.5    Ralston, D.6
  • 94
    • 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(4):619-23.
    • (2001) J Clin Invest , vol.108 , Issue.4 , pp. 619-623
    • Montosi, G.1    Donovan, A.2    Totaro, A.3    Garuti, C.4    Pignatti, E.5    Cassanelli, S.6
  • 95
    • 0037100517 scopus 로고    scopus 로고
    • Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis
    • Wallace DF, Pedersen P, Dixon JL, Stephenson P, Searle JW, Powell LW, et al. Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis. Blood. 2002;100 (2):692-4.
    • (2002) Blood , vol.100 , Issue.2 , 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
  • 96
    • 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(5):1904-10.
    • (2003) Blood , vol.102 , Issue.5 , pp. 1904-1910
    • Hetet, G.1    Devaux, I.2    Soufir, N.3    Grandchamp, B.4    Beaumont, C.5
  • 98
    • 0742272103 scopus 로고    scopus 로고
    • The ferroportin disease
    • Pietrangelo A. The ferroportin disease. Blood Cells Mol Dis. 2004; 32 (1):131-8.
    • (2004) Blood Cells Mol Dis , vol.32 , Issue.1 , pp. 131-138
    • Pietrangelo, A.1
  • 99
    • 0033369104 scopus 로고    scopus 로고
    • Are haemochromatosis mutations related to the severity of liver disease in hepatitis C virus infection?
    • Martinelli AL, Franco RF, Villanova MG, Figueiredo JF, Secaf M, Tavella MH, et al. Are haemochromatosis mutations related to the severity of liver disease in hepatitis C virus infection? Acta Haematol. 2000;102(3):152-6.
    • (2000) Acta Haematol , vol.102 , Issue.3 , pp. 152-156
    • Martinelli, A.L.1    Franco, R.F.2    Villanova, M.G.3    Figueiredo, J.F.4    Secaf, M.5    Tavella, M.H.6
  • 102
    • 77952651526 scopus 로고    scopus 로고
    • Frequency of hereditary hemochromatosis gene mutations (C282Y and H63D) in hemoglobin S carrier from Brazil
    • Bonini-Domingos CR, Zamaro PJA. Frequency of hereditary hemochromatosis gene mutations (C282Y and H63D) in hemoglobin S carrier from Brazil. Vita et Sanitas, Trindade/GO 2007;1(1).
    • (2007) Vita Et Sanitas, Trindade/GO , vol.1 , Issue.1
    • Bonini-Domingos, C.R.1    Zamaro, P.J.A.2


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