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Volumn 102, Issue 5, 2017, Pages 809-817

Pathophysiological consequences and benefits of HFE mutations: 20 years of research

Author keywords

[No Author keywords available]

Indexed keywords

BETA 2 MICROGLOBULIN; BONE MORPHOGENETIC PROTEIN 2; BONE MORPHOGENETIC PROTEIN 4; CERULOPLASMIN; FERROPORTIN; HAPTOGLOBIN; HEMOCHROMATOSIS PROTEIN; HEMOJUVELIN; HEPCIDIN; IRON; LIVER ENZYME; TRANSFERRIN;

EID: 85018942617     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2016.160432     Document Type: Review
Times cited : (50)

References (129)
  • 2
    • 84930822337 scopus 로고    scopus 로고
    • Update on iron metabolism and molecular perspective of common genetic and acquired disorder, hemochromatosis
    • Yun S, Vincelette ND. Update on iron metabolism and molecular perspective of common genetic and acquired disorder, hemochromatosis. Crit Rev Oncol Hematol. 2015;95(1):12-25.
    • (2015) Crit Rev Oncol Hematol , vol.95 , Issue.1 , pp. 12-25
    • Yun, S.1    Vincelette, N.D.2
  • 3
    • 84952717626 scopus 로고    scopus 로고
    • Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network
    • Gallego CJ, Burt A, Sundaresan AS, et al. Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network. Am J Hum Genet. 2015;97(4):512-520.
    • (2015) Am J Hum Genet , vol.97 , Issue.4 , pp. 512-520
    • Gallego, C.J.1    Burt, A.2    Sundaresan, A.S.3
  • 4
    • 84887261602 scopus 로고    scopus 로고
    • Hemochromatosis and iron overload: From bench to clinic
    • Barton JC. Hemochromatosis and iron overload: from bench to clinic. Am J Med Sci. 2013;346(5):403-412.
    • (2013) Am J Med Sci , vol.346 , Issue.5 , pp. 403-412
    • Barton, J.C.1
  • 6
    • 7044266107 scopus 로고
    • Cirrhose hyper-trophique pigmentaire dans le diabète sucré
    • Hanot V, Chauffard A. [Cirrhose hyper-trophique pigmentaire dans le diabète sucré]. Rev Med. 1882;2:385-403.
    • (1882) Rev Med , vol.2 , pp. 385-403
    • Hanot, V.1    Chauffard, A.2
  • 10
  • 11
    • 0001189562 scopus 로고
    • Sur la cristallisation de la fer-ritine]
    • Laufberger V. [Sur la cristallisation de la fer-ritine]. Soc Chim Biol. 1937.
    • (1937) Soc Chim Biol
    • Laufberger, V.1
  • 12
    • 37049225702 scopus 로고
    • An iron-binding component in human blood plasma
    • Schade AL, Caroline L. An iron-binding component in human blood plasma. Science. 1946;104(2702):340.
    • (1946) Science , vol.104 , Issue.2702 , pp. 340
    • Schade, A.L.1    Caroline, L.2
  • 13
    • 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, 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
  • 14
    • 9144252017 scopus 로고    scopus 로고
    • Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis
    • Papanikolaou G, Samuels ME, Ludwig EH, 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
  • 15
    • 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
  • 16
    • 0034022636 scopus 로고    scopus 로고
    • The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22
    • Camaschella C, Roetto A, Cali A, et al. The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22. Nat Genet. 2000;25(1):14-15.
    • (2000) Nat Genet , vol.25 , Issue.1 , pp. 14-15
    • Camaschella, C.1    Roetto, A.2    Cali, A.3
  • 17
    • 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
  • 18
    • 0034930197 scopus 로고    scopus 로고
    • A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
    • Njajou OT, 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
  • 19
    • 78751632570 scopus 로고
    • HFE-Associated Hereditary Hemochromatosis
    • Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, et al., eds, Seattle (WA)
    • Seckington R, Powell L. HFE-Associated Hereditary Hemochromatosis. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, et al., eds. GeneReviews(R). Seattle (WA), 1993.
    • (1993) Genereviews(R)
    • Seckington, R.1    Powell, L.2
  • 20
    • 84960397668 scopus 로고    scopus 로고
    • EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH)
    • Porto G, Brissot P, Swinkels DW, et al. EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH). Eur J Hum Genet. 2016;24(4):479-495.
    • (2016) Eur J Hum Genet , vol.24 , Issue.4 , pp. 479-495
    • Porto, G.1    Brissot, P.2    Swinkels, D.W.3
  • 21
    • 84979681515 scopus 로고    scopus 로고
    • Clinical and methodological factors affecting non-transferrin-bound iron values using a novel fluorescent bead assay
    • Garbowski MW, Ma YM, Fucharoen S, Srichairatanakool S, Hider R, Porter JB. Clinical and methodological factors affecting non-transferrin-bound iron values using a novel fluorescent bead assay. Transl Res. 2016;177:19-30.
    • (2016) Transl Res , vol.177 , pp. 19-30
    • Garbowski, M.W.1    Ma, Y.M.2    Fucharoen, S.3    Srichairatanakool, S.4    Hider, R.5    Porter, J.B.6
  • 22
    • 84857373097 scopus 로고    scopus 로고
    • Non-transferrin bound iron: A key role in iron overload and iron toxicity
    • Brissot P, Ropert M, Le Lan C, Loreal O. Non-transferrin bound iron: a key role in iron overload and iron toxicity. Biochim Biophys Acta. 2012;1820(3):403-410.
    • (2012) Biochim Biophys Acta , vol.1820 , Issue.3 , pp. 403-410
    • Brissot, P.1    Ropert, M.2    Le Lan, C.3    Loreal, O.4
  • 23
    • 20244372858 scopus 로고    scopus 로고
    • Hemochromatosis and iron-overload screening in a racially diverse population
    • Adams PC, Reboussin DM, Barton JC, 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
  • 24
    • 77953120762 scopus 로고    scopus 로고
    • European Association For The Study Of The L. EASL clinical practice guidelines for HFE hemochromatosis
    • European Association For The Study Of The L. EASL clinical practice guidelines for HFE hemochromatosis. J Hepatol. 2010;53(1):3-22.
    • (2010) J Hepatol , vol.53 , Issue.1 , pp. 3-22
  • 25
    • 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, et al. The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression. J Biol Chem. 1997;272(22):14025-14028.
    • (1997) J Biol Chem , vol.272 , Issue.22 , pp. 14025-14028
    • Feder, J.N.1    Tsuchihashi, Z.2    Irrinki, A.3
  • 26
    • 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 XY, 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
  • 27
    • 2942554825 scopus 로고    scopus 로고
    • HFE and transferrin directly compete for transferrin receptor in solution and at the cell surface
    • Giannetti AM, Bjorkman PJ. HFE and transferrin directly compete for transferrin receptor in solution and at the cell surface. J Biol Chem. 2004;279(24):25866-25875.
    • (2004) J Biol Chem , vol.279 , Issue.24 , pp. 25866-25875
    • Giannetti, A.M.1    Bjorkman, P.J.2
  • 28
    • 0035914480 scopus 로고    scopus 로고
    • Mutational analysis of the transferrin receptor reveals overlapping HFE and transferrin binding sites
    • West AP Jr, Giannetti AM, Herr AB, et al. Mutational analysis of the transferrin receptor reveals overlapping HFE and transferrin binding sites. J Mol Biol. 2001;313(2):385-397.
    • (2001) J Mol Biol , vol.313 , Issue.2 , pp. 385-397
    • West, A.P.1    Giannetti, A.M.2    Herr, A.B.3
  • 29
    • 33749393565 scopus 로고    scopus 로고
    • Hereditary hemochromatosis protein, HFE, interaction with transferrin receptor 2 suggests a molecular mechanism for mammalian iron sensing
    • Goswami T, Andrews NC. Hereditary hemochromatosis protein, HFE, interaction with transferrin receptor 2 suggests a molecular mechanism for mammalian iron sensing. J Biol Chem. 2006;281(39):28494-28498.
    • (2006) J Biol Chem , vol.281 , Issue.39 , pp. 28494-28498
    • Goswami, T.1    Andrews, N.C.2
  • 30
    • 63449103712 scopus 로고    scopus 로고
    • BMP6 is a key endogenous regulator of hepcidin expression and iron metabolism
    • Andriopoulos B Jr, 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
  • 32
    • 84959440408 scopus 로고    scopus 로고
    • Heterozygous Mutations in BMP6 Pro-peptide Lead to Inappropriate Hepcidin Synthesis and Moderate Iron Overload in Humans
    • Daher R, Kannengiesser C, Houamel D, et al. Heterozygous Mutations in BMP6 Pro-peptide Lead to Inappropriate Hepcidin Synthesis and Moderate Iron Overload in Humans. Gastroenterology. 2016; 150(3):672-683 e4.
    • (2016) Gastroenterology , vol.150 , Issue.3 , pp. 672-683
    • Daher, R.1    Kannengiesser, C.2    Houamel, D.3
  • 33
    • 33646370235 scopus 로고    scopus 로고
    • Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression
    • Babitt JL, Huang FW, Wrighting DM, 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
  • 34
    • 80054101329 scopus 로고    scopus 로고
    • Perturbation of hepcidin expression by BMP type I receptor deletion induces iron overload in mice
    • Steinbicker AU, Bartnikas TB, Lohmeyer LK, 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
  • 35
    • 84907266506 scopus 로고    scopus 로고
    • BMP type II receptors have redundant roles in the regulation of hepatic hepcidin gene expression and iron metabolism
    • Mayeur C, Leyton PA, Kolodziej SA, Yu B, Bloch KD. BMP type II receptors have redundant roles in the regulation of hepatic hepcidin gene expression and iron metabolism. Blood. 2014;124(13):2116-2123.
    • (2014) Blood , vol.124 , Issue.13 , pp. 2116-2123
    • Mayeur, C.1    Leyton, P.A.2    Kolodziej, S.A.3    Yu, B.4    Bloch, K.D.5
  • 36
    • 33644876815 scopus 로고    scopus 로고
    • A role of SMAD4 in iron metabolism through the positive regulation of hepcidin expression
    • Wang RH, 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
  • 37
    • 84952639186 scopus 로고    scopus 로고
    • Differing impact of the deletion of hemochromatosis-associated molecules HFE and transferrin receptor-2 on the iron phenotype of mice lacking bone morphogenetic protein 6 or hemojuvelin
    • Latour C, Besson-Fournier C, Meynard D, et al. Differing impact of the deletion of hemochromatosis-associated molecules HFE and transferrin receptor-2 on the iron phenotype of mice lacking bone morphogenetic protein 6 or hemojuvelin. Hepatology. 2016;63(1):126-137.
    • (2016) Hepatology , vol.63 , Issue.1 , pp. 126-137
    • Latour, C.1    Besson-Fournier, C.2    Meynard, D.3
  • 38
    • 84907321174 scopus 로고    scopus 로고
    • HFE interacts with the BMP type I receptor ALK3 to regulate hepcidin expression
    • Wu XG, Wang Y, Wu Q, et al. HFE interacts with the BMP type I receptor ALK3 to regulate hepcidin expression. Blood. 2014;124(8):1335-1343.
    • (2014) Blood , vol.124 , Issue.8 , pp. 1335-1343
    • Wu, X.G.1    Wang, Y.2    Wu, Q.3
  • 39
    • 84867578495 scopus 로고    scopus 로고
    • The hemochromatosis proteins HFE, TfR2, and HJV form a membrane-associated protein complex for hepcidin regulation
    • D'Alessio F, Hentze MW, Muckenthaler MU. The hemochromatosis proteins HFE, TfR2, and HJV form a membrane-associated protein complex for hepcidin regulation. J Hepatol. 2012;57(5):1052-1060.
    • (2012) J Hepatol , vol.57 , Issue.5 , pp. 1052-1060
    • D'alessio, F.1    Hentze, M.W.2    Muckenthaler, M.U.3
  • 40
    • 77957964766 scopus 로고    scopus 로고
    • Defective bone morphogenic protein signaling underlies hepcidin deficiency in HFE hereditary hemochromatosis
    • Ryan JD, Ryan E, Fabre A, Lawless MW, Crowe J. Defective bone morphogenic protein signaling underlies hepcidin deficiency in HFE hereditary hemochromatosis. Hepatology. 2010;52(4):1266-1273.
    • (2010) Hepatology , vol.52 , Issue.4 , pp. 1266-1273
    • Ryan, J.D.1    Ryan, E.2    Fabre, A.3    Lawless, M.W.4    Crowe, J.5
  • 41
    • 0036177909 scopus 로고    scopus 로고
    • A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation
    • Gochee PA, Powell LW, Cullen DJ, Du Sart D, Rossi E, Olynyk JK. A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation. Gastroenterology. 2002;122(3):646-651.
    • (2002) Gastroenterology , vol.122 , Issue.3 , pp. 646-651
    • Gochee, P.A.1    Powell, L.2    Cullen, D.J.3    Du Sart, D.4    Rossi, E.5    Olynyk, J.K.6
  • 42
    • 0036839568 scopus 로고    scopus 로고
    • Mild iron overload in patients carrying the HFE S65C gene mutation: A retrospective study in patients with suspected iron overload and healthy controls
    • Holmstrom P, Marmur J, Eggertsen G, Gafvels M, Stal P. Mild iron overload in patients carrying the HFE S65C gene mutation: a retrospective study in patients with suspected iron overload and healthy controls. Gut. 2002;51(5):723-730.
    • (2002) Gut , vol.51 , Issue.5 , pp. 723-730
    • Holmstrom, P.1    Marmur, J.2    Eggertsen, G.3    Gafvels, M.4    Stal, P.5
  • 43
    • 84874367912 scopus 로고    scopus 로고
    • Phenotypic and clinical manifestations of compound heterozygous genetic haemochromatosis (CHGH): A non-invasive approach to clinical management
    • Ramakrishna R, Gupta S, Sarathy K, Bowen A. Phenotypic and clinical manifestations of compound heterozygous genetic haemochromatosis (CHGH): a non-invasive approach to clinical management. Intern Med J. 2013;43(3):254-261.
    • (2013) Intern Med J , vol.43 , Issue.3 , pp. 254-261
    • Ramakrishna, R.1    Gupta, S.2    Sarathy, K.3    Bowen, A.4
  • 44
    • 67651146945 scopus 로고    scopus 로고
    • HFE C282Y/H63D Compound Heterozygotes Are at Low Risk of Hemochromatosis-Related Morbidity
    • Gurrin LC, Bertalli NA, Dalton GW, et al. HFE C282Y/H63D Compound Heterozygotes Are at Low Risk of Hemochromatosis-Related Morbidity. Hepatology. 2009;50(1):94-101.
    • (2009) Hepatology , vol.50 , Issue.1 , pp. 94-101
    • Gurrin, L.C.1    Bertalli, N.A.2    Dalton, G.W.3
  • 45
    • 33750819627 scopus 로고    scopus 로고
    • The clinical relevance of compound heterozy-gosity for the C282Y and H63D substitutions in hemochromatosis
    • Walsh A, Dixon JL, Ramm GA, et al. The clinical relevance of compound heterozy-gosity for the C282Y and H63D substitutions in hemochromatosis. Clin Gastroenterol Hepatol. 2006;4(11):1403-1410.
    • (2006) Clin Gastroenterol Hepatol , vol.4 , Issue.11 , pp. 1403-1410
    • Walsh, A.1    Dixon, J.L.2    Ramm, G.A.3
  • 46
    • 75449097854 scopus 로고    scopus 로고
    • Huh-7: A human "hemochromatotic" cell line
    • Vecchi C, Montosi G, Pietrangelo A. Huh-7: a human "hemochromatotic" cell line. Hepatology. 2010;51(2):654-659.
    • (2010) Hepatology , vol.51 , Issue.2 , pp. 654-659
    • Vecchi, C.1    Montosi, G.2    Pietrangelo, A.3
  • 47
    • 80053975390 scopus 로고    scopus 로고
    • A novel Y231del mutation of HFE in hereditary haemochromatosis provides in vivo evidence that the Huh-7 is a human haemochromatotic cell line
    • Takano A, Niimi H, Atarashi Y, et al. A novel Y231del mutation of HFE in hereditary haemochromatosis provides in vivo evidence that the Huh-7 is a human haemochromatotic cell line. Liver Int. 2011;31(10):1593-1597.
    • (2011) Liver Int , vol.31 , Issue.10 , pp. 1593-1597
    • Takano, A.1    Niimi, H.2    Atarashi, Y.3
  • 48
    • 58149401215 scopus 로고    scopus 로고
    • Homozygous deletion of HFE produces a phenotype similar to the HFE p.C282Y/p.C282Y genotype
    • Le Gac G, Gourlaouen I, Ronsin C, et al. Homozygous deletion of HFE produces a phenotype similar to the HFE p.C282Y/p.C282Y genotype. Blood. 2008;112(13):5238-5240.
    • (2008) Blood , vol.112 , Issue.13 , pp. 5238-5240
    • Le Gac, G.1    Gourlaouen, I.2    Ronsin, C.3
  • 49
    • 65549123082 scopus 로고    scopus 로고
    • Homozygous deletion of HFE: The Sardinian hemochromatosis?
    • Pelucchi S, Mariani R, Bertola F, Arosio C, Piperno A. Homozygous deletion of HFE: the Sardinian hemochromatosis? Blood. 2009;113(16):3886.
    • (2009) Blood , vol.113 , Issue.16 , pp. 3886
    • Pelucchi, S.1    Mariani, R.2    Bertola, F.3    Arosio, C.4    Piperno, A.5
  • 50
    • 84888388813 scopus 로고    scopus 로고
    • Phenotypic expression of a novel C282Y/R226G compound heterozygous state in HFE hemochromatosis: Molecular dynamics and biochemical studies
    • Cezard C, Rabbind Singh A, Le Gac G, Gourlaouen I, Ferec C, Rochette J. Phenotypic expression of a novel C282Y/R226G compound heterozygous state in HFE hemochromatosis: molecular dynamics and biochemical studies. Blood Cells Mol Dis. 2014;52(1):27-34.
    • (2014) Blood Cells Mol Dis , vol.52 , Issue.1 , pp. 27-34
    • Cezard, C.1    Rabbind Singh, A.2    Le Gac, G.3    Gourlaouen, I.4    Ferec, C.5    Rochette, J.6
  • 51
    • 0033868022 scopus 로고    scopus 로고
    • Two novel nonsense mutations of HFE gene in five unrelated italian patients with hemochromatosis
    • Piperno A, Arosio C, Fossati L, et al. Two novel nonsense mutations of HFE gene in five unrelated italian patients with hemochromatosis. Gastroenterology. 2000; 119(2):441-445.
    • (2000) Gastroenterology , vol.119 , Issue.2 , pp. 441-445
    • Piperno, A.1    Arosio, C.2    Fossati, L.3
  • 54
    • 0035353167 scopus 로고    scopus 로고
    • New mutations inactivating transferrin receptor 2 in hemochromatosis type 3
    • Roetto A, Totaro A, Piperno A, et al. New mutations inactivating transferrin receptor 2 in hemochromatosis type 3. Blood. 2001;97(9):2555-2560.
    • (2001) Blood , vol.97 , Issue.9 , pp. 2555-2560
    • Roetto, A.1    Totaro, A.2    Piperno, A.3
  • 55
    • 84885433847 scopus 로고    scopus 로고
    • Ferroportin Diseases: Functional Studies, a Link Between Genetic and Clinical Phenotype
    • Detivaud L, Island ML, Jouanolle AM, et al. Ferroportin Diseases: Functional Studies, a Link Between Genetic and Clinical Phenotype. Hum Mutat. 2013;34(11):1529-1536.
    • (2013) Hum Mutat , vol.34 , Issue.11 , pp. 1529-1536
    • Detivaud, L.1    Island, M.L.2    Jouanolle, A.M.3
  • 56
    • 20844462571 scopus 로고    scopus 로고
    • In vitro functional analysis of human ferroportin (FPN) and hemochromatosis-associated FPN mutations
    • Schimanski LM, Drakesmith H, Merryweather-Clarke AT, et al. In vitro functional analysis of human ferroportin (FPN) and hemochromatosis-associated FPN mutations. Blood. 2005;105(10):4096-4102.
    • (2005) Blood , vol.105 , Issue.10 , pp. 4096-4102
    • Schimanski, L.M.1    Drakesmith, H.2    Merryweather-Clarke, A.T.3
  • 57
    • 84942340966 scopus 로고    scopus 로고
    • Genetics, Genetic Testing, and Management of Hemochromatosis: 15 Years Since Hepcidin
    • Pietrangelo A. Genetics, Genetic Testing, and Management of Hemochromatosis: 15 Years Since Hepcidin. Gastroenterology. 2015;149(5):1240-1251.e4.
    • (2015) Gastroenterology , vol.149 , Issue.5 , pp. 1240-1251
    • Pietrangelo, A.1
  • 58
    • 0038714006 scopus 로고    scopus 로고
    • Longevity and carrying the C282Y mutation for haemochromatosis on the HFE gene: Case control study of 492 French centenarians
    • Coppin H, Bensaid M, Fruchon S, Borot N, Blanche H, Roth MP. Longevity and carrying the C282Y mutation for haemochromatosis on the HFE gene: case control study of 492 French centenarians. BMJ. 2003;327 (7407):132-133.
    • (2003) BMJ , vol.327 , Issue.7407 , pp. 132-133
    • Coppin, H.1    Bensaid, M.2    Fruchon, S.3    Borot, N.4    Blanche, H.5    Roth, M.P.6
  • 59
    • 77956625820 scopus 로고    scopus 로고
    • HFE Cys282Tyr Homozygotes With Serum Ferritin Concentrations Below 1000 mu g/L Are at Low Risk of Hemochromatosis
    • Allen KJ, Bertalli NA, Osborne NJ, et al. HFE Cys282Tyr Homozygotes With Serum Ferritin Concentrations Below 1000 mu g/L Are at Low Risk of Hemochromatosis. Hepatology. 2010;52(3):925-933.
    • (2010) Hepatology , vol.52 , Issue.3 , pp. 925-933
    • Allen, K.J.1    Bertalli, N.A.2    Osborne, N.J.3
  • 60
    • 79959547265 scopus 로고    scopus 로고
    • Diagnosis and Management of Hemochromatosis: 2011 Practice Guideline by the American Association for the Study of Liver Diseases
    • Bacon BR, Adams PC, Kowdley KV, Powell LW, Tavill AS. 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.4    Tavill, A.S.5
  • 61
    • 38349079861 scopus 로고    scopus 로고
    • Iron-overload-related disease in HFE hereditary hemochromatosis
    • Allen KJ, Gurrin LC, Constantine CC, 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
  • 62
    • 0035127525 scopus 로고    scopus 로고
    • Increased cancer risk in a cohort of 230 patients with hereditary hemochromatosis in comparison to matched control patients with non-iron-related chronic liver disease
    • Fracanzani AL, Conte D, Fraquelli M, et al. Increased cancer risk in a cohort of 230 patients with hereditary hemochromatosis in comparison to matched control patients with non-iron-related chronic liver disease. Hepatology. 2001;33(3):647-651.
    • (2001) Hepatology , vol.33 , Issue.3 , pp. 647-651
    • Fracanzani, A.L.1    Conte, D.2    Fraquelli, M.3
  • 63
    • 79953201557 scopus 로고    scopus 로고
    • Impact of hemochromatosis gene (HFE) mutations on epithelial ovarian cancer risk and prognosis
    • Gannon PO, Medelci S, Le Page C, et al. Impact of hemochromatosis gene (HFE) mutations on epithelial ovarian cancer risk and prognosis. Int J Cancer. 2011;128(10):2326-2334.
    • (2011) Int J Cancer , vol.128 , Issue.10 , pp. 2326-2334
    • Gannon, P.O.1    Medelci, S.2    Le Page, C.3
  • 64
    • 77950620367 scopus 로고    scopus 로고
    • HFE C282Y homozygotes are at increased risk of breast and colorectal cancer
    • Osborne NJ, Gurrin LC, Allen KJ, 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
  • 65
    • 0037440257 scopus 로고    scopus 로고
    • Association between hemochromatosis (HFE) gene mutation carrier status and the risk of colon cancer
    • Shaheen NJ, Silverman LM, Keku T, et al. Association between hemochromatosis (HFE) gene mutation carrier status and the risk of colon cancer. J Natl Cancer Inst. 2003;95(2):154-159.
    • (2003) J Natl Cancer Inst , vol.95 , Issue.2 , pp. 154-159
    • Shaheen, N.J.1    Silverman, L.M.2    Keku, T.3
  • 66
    • 28844455311 scopus 로고    scopus 로고
    • Hemochromatosis gene mutations among Finnish male breast and prostate cancer patients
    • Syrjakoski K, Fredriksson H, Ikonen T, et al. Hemochromatosis gene mutations among Finnish male breast and prostate cancer patients. Int J Cancer. 2006;118(2):518-520.
    • (2006) Int J Cancer , vol.118 , Issue.2 , pp. 518-520
    • Syrjakoski, K.1    Fredriksson, H.2    Ikonen, T.3
  • 67
    • 0344420199 scopus 로고    scopus 로고
    • Hepcidin: The missing link between hemochromatosis and infections
    • Ashrafian H. Hepcidin: the missing link between hemochromatosis and infections. Infect Immun. 2003;71(12):6693-6700.
    • (2003) Infect Immun , vol.71 , Issue.12 , pp. 6693-6700
    • Ashrafian, H.1
  • 68
    • 35448938485 scopus 로고    scopus 로고
    • Association of hemochromatosis with infectious diseases: Expanding spectrum
    • Khan FA, Fisher MA, Khakoo RA. Association of hemochromatosis with infectious diseases: expanding spectrum. Int J Infect Dis. 2007;11(6):482-487.
    • (2007) Int J Infect Dis , vol.11 , Issue.6 , pp. 482-487
    • Khan, F.A.1    Fisher, M.A.2    Khakoo, R.A.3
  • 69
    • 84920905125 scopus 로고    scopus 로고
    • Hepcidin-induced hypoferremia is a critical host defense mechanism against the siderophilic bacterium Vibrio vulnificus
    • Arezes J, Jung G, Gabayan V, et al. Hepcidin-induced hypoferremia is a critical host defense mechanism against the siderophilic bacterium Vibrio vulnificus. Cell Host Microbe. 2015;17(1):47-57.
    • (2015) Cell Host Microbe , vol.17 , Issue.1 , pp. 47-57
    • Arezes, J.1    Jung, G.2    Gabayan, V.3
  • 70
    • 83755183844 scopus 로고    scopus 로고
    • Hepcidin Is Regulated during Blood-Stage Malaria and Plays a Protective Role in Malaria Infection
    • Wang HZ, He YX, Yang CJ, Zhou W, Zou CG. Hepcidin Is Regulated during Blood-Stage Malaria and Plays a Protective Role in Malaria Infection. J Immunol. 2011; 187(12):6410-6416.
    • (2011) J Immunol , vol.187 , Issue.12 , pp. 6410-6416
    • Wang, H.Z.1    He, Y.X.2    Yang, C.J.3    Zhou, W.4    Zou, C.G.5
  • 71
    • 84862681466 scopus 로고    scopus 로고
    • Hfe deficiency impairs pulmonary neutrophil recruitment in response to inflammation
    • Benesova K, Vujic Spasic M, Schaefer SM, et al. Hfe deficiency impairs pulmonary neutrophil recruitment in response to inflammation. PloS One. 2012;7(6):e39363.
    • (2012) Plos One , vol.7 , Issue.6
    • Benesova, K.1    Vujic Spasic, M.2    Schaefer, S.M.3
  • 72
    • 84887850175 scopus 로고    scopus 로고
    • Diagnosis and treatment of hereditary hemochromatosis: An update
    • Kanwar P, Kowdley KV. Diagnosis and treatment of hereditary hemochromatosis: an update. Expert Rev Gastroenterol Hepatol. 2013;7(6):517-530.
    • (2013) Expert Rev Gastroenterol Hepatol , vol.7 , Issue.6 , pp. 517-530
    • Kanwar, P.1    Kowdley, K.V.2
  • 73
    • 84959075144 scopus 로고    scopus 로고
    • Optimizing the diagnosis and the treatment of iron overload diseases
    • Brissot P. Optimizing the diagnosis and the treatment of iron overload diseases. Expert Rev Gastroenterol Hepatol. 2016;10(3):359-370.
    • (2016) Expert Rev Gastroenterol Hepatol , vol.10 , Issue.3 , pp. 359-370
    • Brissot, P.1
  • 74
    • 78049509815 scopus 로고    scopus 로고
    • A phase 1/2, dose-escalation trial of deferasirox for the treatment of iron overload in HFE-relat-ed 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-relat-ed 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
  • 75
    • 84868545645 scopus 로고    scopus 로고
    • Minihepcidins prevent iron overload in a hepcidin-deficient mouse model of severe hemochromatosis
    • Ramos E, Ruchala P, Goodnough JB, et al. Minihepcidins prevent iron overload in a hepcidin-deficient mouse model of severe hemochromatosis. Blood. 2012;120(18): 3829-3836.
    • (2012) Blood , vol.120 , Issue.18 , pp. 3829-3836
    • Ramos, E.1    Ruchala, P.2    Goodnough, J.B.3
  • 77
    • 77953120762 scopus 로고    scopus 로고
    • EASL clinical practice guidelines for HFE hemochromatosis
    • Liver EAFTSOT. EASL clinical practice guidelines for HFE hemochromatosis. J Hepatol. 2010;53(1):3-22.
    • (2010) J Hepatol , vol.53 , Issue.1 , pp. 3-22
  • 80
    • 11144254037 scopus 로고    scopus 로고
    • HLA haplotype A*03-B*07 in hemochromatosis probands with HFE C282Y homozygosity: Frequency disparity in men and women and lack of association with severity of iron overload
    • Barton JC, Wiener HW, Acton RT, Go RC. HLA haplotype A*03-B*07 in hemochromatosis probands with HFE C282Y homozygosity: frequency disparity in men and women and lack of association with severity of iron overload. Blood Cells Mol Dis. 2005;34(1):38-47.
    • (2005) Blood Cells Mol Dis , vol.34 , Issue.1 , pp. 38-47
    • Barton, J.C.1    Wiener, H.W.2    Acton, R.T.3    Go, R.C.4
  • 81
    • 0037509928 scopus 로고    scopus 로고
    • Regulatory defects in liver and intestine implicate abnormal hepcidin and Cybrd1 expression in mouse hemochromatosis
    • Muckenthaler M, Roy CN, Custodio AO, 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
  • 82
    • 0034062537 scopus 로고    scopus 로고
    • Genes that modify the hemochromatosis phenotype in mice
    • Levy JE, Montross LK, Andrews NC. Genes that modify the hemochromatosis phenotype in mice. J Clin Invest. 2000;105(9):1209-1216.
    • (2000) J Clin Invest , vol.105 , Issue.9 , pp. 1209-1216
    • Levy, J.E.1    Montross, L.K.2    Andrews, N.C.3
  • 83
    • 0031957721 scopus 로고    scopus 로고
    • Heterogeneity of hemochromatosis in Italy
    • Piperno A, Sampietro M, Pietrangelo A, et al. Heterogeneity of hemochromatosis in Italy. Gastroenterology. 1998;114(5):996-1002.
    • (1998) Gastroenterology , vol.114 , Issue.5 , pp. 996-1002
    • Piperno, A.1    Sampietro, M.2    Pietrangelo, A.3
  • 84
    • 0036163634 scopus 로고    scopus 로고
    • Excess alcohol greatly increases the prevalence of cirrhosis in hereditary hemochromatosis
    • Fletcher LM, Dixon JL, Purdie DM, Powell LW, Crawford DHG. Excess alcohol greatly increases the prevalence of cirrhosis in hereditary hemochromatosis. Gastroenterology. 2002;122(2):281-289.
    • (2002) Gastroenterology , vol.122 , Issue.2 , pp. 281-289
    • Fletcher, L.M.1    Dixon, J.L.2    Purdie, D.M.3    Powell, L.4    Crawford, D.H.G.5
  • 85
    • 27744561330 scopus 로고    scopus 로고
    • Diet and genetic factors associated with iron status in middle-aged women
    • Cade JE, Moreton JA, O'Hara B, et al. Diet and genetic factors associated with iron status in middle-aged women. Am J Clin Nutr. 2005;82(4):813-820.
    • (2005) Am J Clin Nutr , vol.82 , Issue.4 , pp. 813-820
    • Cade, J.E.1    Moreton, J.A.2    O'hara, B.3
  • 86
    • 84926388289 scopus 로고    scopus 로고
    • Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis
    • Benyamin B, Esko T, Ried JS, et al. Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis. Nat Commun. 2015;6:6542.
    • (2015) Nat Commun , vol.6 , pp. 6542
    • Benyamin, B.1    Esko, T.2    Ried, J.S.3
  • 87
    • 70350628958 scopus 로고    scopus 로고
    • Common variants in TMPRSS6 are associated with iron status and erythrocyte volume
    • Benyamin B, Ferreira MAR, Willemsen G, et al. Common variants in TMPRSS6 are associated with iron status and erythrocyte volume. Nat Genet. 2009;41(11):1173-1175.
    • (2009) Nat Genet , vol.41 , Issue.11 , pp. 1173-1175
    • Benyamin, B.1    Ferreira, M.A.R.2    Willemsen, G.3
  • 88
    • 84922962794 scopus 로고    scopus 로고
    • Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis
    • de Tayrac M, Roth MP, Jouanolle AM, et al. Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis. J Hepatol. 2015;62(3):664-672.
    • (2015) J Hepatol , vol.62 , Issue.3 , pp. 664-672
    • De Tayrac, M.1    Roth, M.P.2    Jouanolle, A.M.3
  • 89
    • 35349002878 scopus 로고    scopus 로고
    • Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance
    • Milet J, Dehais V, Bourgain C, et al. Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance. Am J Hum Genet. 2007;81(4):799-807.
    • (2007) Am J Hum Genet , vol.81 , Issue.4 , pp. 799-807
    • Milet, J.1    Dehais, V.2    Bourgain, C.3
  • 90
    • 84938209461 scopus 로고    scopus 로고
    • Exome sequencing in HFE C282Y homozygous men with extreme pheno-types identifies a GNPAT variant associated with severe iron overload
    • McLaren CE, Emond MJ, Subramaniam VN, et al. Exome sequencing in HFE C282Y homozygous men with extreme pheno-types identifies a GNPAT variant associated with severe iron overload. Hepatology. 2015;62(2):429-439.
    • (2015) Hepatology , vol.62 , Issue.2 , pp. 429-439
    • McLaren, C.E.1    Emond, M.J.2    Subramaniam, V.N.3
  • 91
    • 84870445696 scopus 로고    scopus 로고
    • CYBRD1 as a modifier gene that modulates iron phenotype in HFE p.C282Y homozygous patients
    • Pelucchi S, Mariani R, Calza S, et al. CYBRD1 as a modifier gene that modulates iron phenotype in HFE p.C282Y homozygous patients. Haematol-Hematol J. 2012;97(12):1818-1825.
    • (2012) Haematol-Hematol J , vol.97 , Issue.12 , pp. 1818-1825
    • Pelucchi, S.1    Mariani, R.2    Calza, S.3
  • 92
    • 84902978429 scopus 로고    scopus 로고
    • Evaluation of genome-wide loci of iron metabolism in hereditary hemochromatosis identifies PCSK7 as a host risk factor of liver cirrhosis
    • Stickel F, Buch S, Zoller H, et al. Evaluation of genome-wide loci of iron metabolism in hereditary hemochromatosis identifies PCSK7 as a host risk factor of liver cirrhosis. Hum Mol Genet. 2014;23(14):3883-3890.
    • (2014) Hum Mol Genet , vol.23 , Issue.14 , pp. 3883-3890
    • Stickel, F.1    Buch, S.2    Zoller, H.3
  • 93
    • 70449587089 scopus 로고    scopus 로고
    • HFE, SLC40A1, HAMP, HJV, TFR2, and FTL mutations detected by denaturing high-performance liquid chromatography after iron phenotyping and HFE C282Y and H63D genotyping in 785 HEIRS Study participants
    • Barton JC, LaFreniere SA, Leiendecker-Foster C, et al. HFE, SLC40A1, HAMP, HJV, TFR2, and FTL mutations detected by denaturing high-performance liquid chromatography after iron phenotyping and HFE C282Y and H63D genotyping in 785 HEIRS Study participants. Am J Hematol. 2009;84(11):710-714.
    • (2009) Am J Hematol , vol.84 , Issue.11 , pp. 710-714
    • Barton, J.C.1    Lafreniere, S.A.2    Leiendecker-Foster, C.3
  • 94
    • 85018967157 scopus 로고    scopus 로고
    • Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis
    • Merryweather-Clarke AT, Cadet E, Bomford A, et al. Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis. Blood. 2003;102(11): 758a-758a.
    • (2003) Blood , vol.102 , Issue.11 , pp. 758a-758a
    • Merryweather-Clarke, A.T.1    Cadet, E.2    Bomford, A.3
  • 95
    • 14944345916 scopus 로고    scopus 로고
    • Juvenile hemochromatosis associated with pathogenic mutations of adult hemochromatosis genes
    • Pietrangelo A, Caleffi A, Henrion J, et al. Juvenile hemochromatosis associated with pathogenic mutations of adult hemochromatosis genes. Gastroenterology. 2005; 128(2):470-479.
    • (2005) Gastroenterology , vol.128 , Issue.2 , pp. 470-479
    • Pietrangelo, A.1    Caleffi, A.2    Henrion, J.3
  • 96
    • 0344514886 scopus 로고    scopus 로고
    • Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload
    • Biasiotto G, Belloli S, Ruggeri G, et al. Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload. Clin Chem. 2003;49(12):1981-1988.
    • (2003) Clin Chem , vol.49 , Issue.12 , pp. 1981-1988
    • Biasiotto, G.1    Belloli, S.2    Ruggeri, G.3
  • 97
    • 17044421761 scopus 로고    scopus 로고
    • Haptoglobin modifies the hemochromatosis phenotype in mice
    • Tolosano E, Fagoonee S, Garuti C, et al. Haptoglobin modifies the hemochromatosis phenotype in mice. Blood. 2005;105(8): 3353-3355.
    • (2005) Blood , vol.105 , Issue.8 , pp. 3353-3355
    • Tolosano, E.1    Fagoonee, S.2    Garuti, C.3
  • 98
    • 33847025231 scopus 로고    scopus 로고
    • Genetic study of variation in normal mouse iron homeostasis reveals ceruloplasmin as an HFE-hemochromatosis modifier gene
    • Gouya L, Muzeau F, Robreau AM, et al. Genetic study of variation in normal mouse iron homeostasis reveals ceruloplasmin as an HFE-hemochromatosis modifier gene. Gastroenterology. 2007;132(2):679-686.
    • (2007) Gastroenterology , vol.132 , Issue.2 , pp. 679-686
    • Gouya, L.1    Muzeau, F.2    Robreau, A.M.3
  • 99
    • 0034934762 scopus 로고    scopus 로고
    • Reduced serum ceruloplasmin levels in hereditary haemochromatosis
    • Cairo G, Conte D, Bianchi L, Fraquelli M, Recalcati S. Reduced serum ceruloplasmin levels in hereditary haemochromatosis. Br J Haematol. 2001;114(1):226-229.
    • (2001) Br J Haematol , vol.114 , Issue.1 , pp. 226-229
    • Cairo, G.1    Conte, D.2    Bianchi, L.3    Fraquelli, M.4    Recalcati, S.5
  • 100
    • 38749094467 scopus 로고    scopus 로고
    • Hemochromatosis: A Neolithic adaptation to cereal grain diets
    • Naugler C. Hemochromatosis: a Neolithic adaptation to cereal grain diets. Med Hypotheses. 2008;70(3):691-692.
    • (2008) Med Hypotheses , vol.70 , Issue.3 , pp. 691-692
    • Naugler, C.1
  • 101
    • 33845878232 scopus 로고    scopus 로고
    • Hereditary hemochromatosis results in decreased iron acquisition and growth by Mycobacterium tuberculosis within human macrophages
    • Olakanmi O, Schlesinger LS, Britigan BE. Hereditary hemochromatosis results in decreased iron acquisition and growth by Mycobacterium tuberculosis within human macrophages. J Leukoc Biol. 2007;81(1):195-204.
    • (2007) J Leukoc Biol , vol.81 , Issue.1 , pp. 195-204
    • Olakanmi, O.1    Schlesinger, L.S.2    Britigan, B.E.3
  • 104
    • 34547863499 scopus 로고    scopus 로고
    • The co-ordinated regulation of iron homeostasis in murine macrophages limits the availability of iron for intracellular Salmonella typhimurium
    • Nairz M, Theurl I, Ludwiczek S, et al. The co-ordinated regulation of iron homeostasis in murine macrophages limits the availability of iron for intracellular Salmonella typhimurium. Cell Microbiol. 2007; 9(9):2126-2140.
    • (2007) Cell Microbiol , vol.9 , Issue.9 , pp. 2126-2140
    • Nairz, M.1    Theurl, I.2    Ludwiczek, S.3
  • 105
    • 84944441241 scopus 로고    scopus 로고
    • The HFE genotype and a formulated diet controlling for iron status attenuate experimental cerebral malaria in mice
    • Leitner DF, Stoute JA, Landmesser M, Neely E, Connor JR. The HFE genotype and a formulated diet controlling for iron status attenuate experimental cerebral malaria in mice. Int J Parasitol. 2015;45(12):797-808.
    • (2015) Int J Parasitol , vol.45 , Issue.12 , pp. 797-808
    • Leitner, D.F.1    Stoute, J.A.2    Landmesser, M.3    Neely, E.4    Connor, J.R.5
  • 106
    • 53149123286 scopus 로고    scopus 로고
    • Attenuated inflammatory responses in hemochromatosis reveal a role for iron in the regulation of macrophage cytokine translation
    • Wang L, Johnson EE, Shi HN, Walker WA, Wessling-Resnick M, Cherayil BJ. Attenuated inflammatory responses in hemochromatosis reveal a role for iron in the regulation of macrophage cytokine translation. J Immunol. 2008;181(4):2723-2731.
    • (2008) J Immunol , vol.181 , Issue.4 , pp. 2723-2731
    • Wang, L.1    Johnson, E.E.2    Shi, H.N.3    Walker, W.A.4    Wessling-Resnick, M.5    Cherayil, B.J.6
  • 107
    • 84958078769 scopus 로고    scopus 로고
    • Hemopexin therapy reverts heme-induced proinflammatory phenotypic switching of macrophages in a mouse model of sickle cell disease
    • Vinchi F, Costa da Silva M, Ingoglia G, et al. Hemopexin therapy reverts heme-induced proinflammatory phenotypic switching of macrophages in a mouse model of sickle cell disease. Blood. 2016;127(4):473-486.
    • (2016) Blood , vol.127 , Issue.4 , pp. 473-486
    • Vinchi, F.1    Costa Da Silva, M.2    Ingoglia, G.3
  • 108
    • 80053118808 scopus 로고    scopus 로고
    • Intravenous iron for the treatment of fatigue in nonanemic, pre-menopausal women with low serum ferritin concentration
    • Krayenbuehl PA, Battegay E, Breymann C, Furrer J, Schulthess G. Intravenous iron for the treatment of fatigue in nonanemic, pre-menopausal women with low serum ferritin concentration. Blood. 2011;118(12):3222-3227.
    • (2011) Blood , vol.118 , Issue.12 , pp. 3222-3227
    • Krayenbuehl, P.A.1    Battegay, E.2    Breymann, C.3    Furrer, J.4    Schulthess, G.5
  • 109
    • 84864813728 scopus 로고    scopus 로고
    • Effect of iron supplementation on fatigue in nonanemic menstruating women with low ferritin: A randomized controlled trial
    • Vaucher P, Druais PL, Waldvogel S, Favrat B. Effect of iron supplementation on fatigue in nonanemic menstruating women with low ferritin: a randomized controlled trial. CMAJ. 2012;184(11):1247-1254.
    • (2012) CMAJ , vol.184 , Issue.11 , pp. 1247-1254
    • Vaucher, P.1    Druais, P.L.2    Waldvogel, S.3    Favrat, B.4
  • 110
    • 84944191535 scopus 로고    scopus 로고
    • Eighty percent of French sport winners in Olympic, World and Europeans competitions have mutations in the hemochromatosis HFE gene
    • Hermine O, Dine G, Genty V, et al. Eighty percent of French sport winners in Olympic, World and Europeans competitions have mutations in the hemochromatosis HFE gene. Biochimie. 2015;119:1-5.
    • (2015) Biochimie , vol.119 , pp. 1-5
    • Hermine, O.1    Dine, G.2    Genty, V.3
  • 111
    • 0036484319 scopus 로고    scopus 로고
    • Association between the MHC class I gene HFE polymorphisms and longevity: A study in Sicilian population
    • Lio D, Balistreri CR, Colonna-Romano G, et al. Association between the MHC class I gene HFE polymorphisms and longevity: a study in Sicilian population. Genes Immun. 2002;3(1):20-24.
    • (2002) Genes Immun , vol.3 , Issue.1 , pp. 20-24
    • Lio, D.1    Balistreri, C.R.2    Colonna-Romano, G.3
  • 112
    • 0036990048 scopus 로고    scopus 로고
    • Analysis of hemochromatosis gene mutations in the Sicilian population: Implications for survival and longevity
    • Balistreri CR, Candore G, Almasio P, et al. Analysis of hemochromatosis gene mutations in the Sicilian population: implications for survival and longevity. Arch Gerontol Geriatr Suppl. 2002;8:35-42.
    • (2002) Arch Gerontol Geriatr Suppl , vol.8 , pp. 35-42
    • Balistreri, C.R.1    Candore, G.2    Almasio, P.3
  • 113
    • 0037397458 scopus 로고    scopus 로고
    • Association between the HFE mutations and longevity: A study in Sardinian population
    • Carru C, Pes GM, Deiana L, et al. Association between the HFE mutations and longevity: a study in Sardinian population. Mech Ageing Dev. 2003;124(4):529-532.
    • (2003) Mech Ageing Dev , vol.124 , Issue.4 , pp. 529-532
    • Carru, C.1    Pes, G.M.2    Deiana, L.3
  • 114
    • 84923032036 scopus 로고    scopus 로고
    • Decreased cardiovascular and extrahepatic cancer-related mortality in treated patients with mild HFE hemochromatosis
    • Bardou-Jacquet E, Morcet J, Manet G, et al. Decreased cardiovascular and extrahepatic cancer-related mortality in treated patients with mild HFE hemochromatosis. J Hepatol. 2015;62(3):682-689.
    • (2015) J Hepatol , vol.62 , Issue.3 , pp. 682-689
    • Bardou-Jacquet, E.1    Morcet, J.2    Manet, G.3
  • 115
    • 84882737406 scopus 로고    scopus 로고
    • Increased height in HFE hemochromatosis
    • Cippa PE, Krayenbuehl PA. Increased height in HFE hemochromatosis. N Engl J Med. 2013;369(8):785-786.
    • (2013) N Engl J Med , vol.369 , Issue.8 , pp. 785-786
    • Cippa, P.E.1    Krayenbuehl, P.A.2
  • 116
    • 78049402288 scopus 로고    scopus 로고
    • The C282Y polymorphism of the hereditary hemochromatosis gene is associated with increased sex hormone-binding globulin and normal testosterone levels in men
    • Yeap BB, Beilin J, Shi Z, et al. The C282Y polymorphism of the hereditary hemochromatosis gene is associated with increased sex hormone-binding globulin and normal testosterone levels in men. J Endocrinol Invest. 2010;33(8):544-548.
    • (2010) J Endocrinol Invest , vol.33 , Issue.8 , pp. 544-548
    • Yeap, B.B.1    Beilin, J.2    Shi, Z.3
  • 117
    • 0029827481 scopus 로고    scopus 로고
    • Clinical and biochemical abnormalities in people heterozygous for hemochromatosis
    • Bulaj ZJ, Griffen LM, Jorde LB, Edwards CQ, Kushner JP. Clinical and biochemical abnormalities in people heterozygous for hemochromatosis. N Engl J Med. 1996;335(24):1799-1805.
    • (1996) N Engl J Med , vol.335 , Issue.24 , pp. 1799-1805
    • Bulaj, Z.J.1    Griffen, L.M.2    Jorde, L.B.3    Edwards, C.Q.4    Kushner, J.P.5
  • 118
    • 46349085839 scopus 로고    scopus 로고
    • HFE C282Y homozygotes have reduced low-density lipoprotein cholesterol: The Atherosclerosis Risk in Communities (ARIC) Study
    • Pankow JS, Boerwinkle E, Adams PC, et al. HFE C282Y homozygotes have reduced low-density lipoprotein cholesterol: the Atherosclerosis Risk in Communities (ARIC) Study. Transl Res. 2008;152(1):3-10.
    • (2008) Transl Res , vol.152 , Issue.1 , pp. 3-10
    • Pankow, J.S.1    Boerwinkle, E.2    Adams, P.C.3
  • 119
    • 85018993183 scopus 로고    scopus 로고
    • Hfe C282y Homozygosity Is Associated with Lower Total and Ldl Cholesterol: The Hemochromatosis and Iron Overload Screening (Heirs) Study
    • Adams PC, Pankow J, Barton JC, et al. Hfe C282y Homozygosity Is Associated with Lower Total and Ldl Cholesterol: The Hemochromatosis and Iron Overload Screening (Heirs) Study. Hepatology. 2008; 48(4):437a-438a.
    • (2008) Hepatology , vol.48 , Issue.4 , pp. 437a-438a
    • Adams, P.C.1    Pankow, J.2    Barton, J.C.3
  • 121
    • 84942482206 scopus 로고
    • Hemochromatosis, multiorgan hemosiderosis, and coronary artery disease
    • Miller M, Hutchins GM. Hemochromatosis, multiorgan hemosiderosis, and coronary artery disease. JAMA. 1994;272(3):231-233.
    • (1994) JAMA , vol.272 , Issue.3 , pp. 231-233
    • Miller, M.1    Hutchins, G.M.2
  • 122
    • 0035001398 scopus 로고    scopus 로고
    • Hereditary haemochromatosis and the hypothesis that iron depletion protects against ischemic heart disease
    • Sullivan JL, Zacharski LR. Hereditary haemochromatosis and the hypothesis that iron depletion protects against ischemic heart disease. Eur J Clin Invest. 2001;31(5):375-377.
    • (2001) Eur J Clin Invest , vol.31 , Issue.5 , pp. 375-377
    • Sullivan, J.L.1    Zacharski, L.R.2
  • 124
    • 77449128328 scopus 로고    scopus 로고
    • Do Hemochromatosis Mutations Protect Against Iron-Mediated Atherogenesis?
    • Sullivan JL. Do Hemochromatosis Mutations Protect Against Iron-Mediated Atherogenesis? Circ-Cardiovasc Gene. 2009;2(6):652-657.
    • (2009) Circ-Cardiovasc Gene , vol.2 , Issue.6 , pp. 652-657
    • Sullivan, J.L.1
  • 125
    • 67349270547 scopus 로고    scopus 로고
    • CAT53 and HFE alleles in Alzheimer's disease: A putative protective role of the C282Y HFE mutation
    • Correia AP, Pinto JP, Dias V, Mascarenhas C, Almeida S, Porto G. CAT53 and HFE alleles in Alzheimer's disease: a putative protective role of the C282Y HFE mutation. Neurosci Lett. 2009;457(3):129-132.
    • (2009) Neurosci Lett , vol.457 , Issue.3 , pp. 129-132
    • Correia, A.P.1    Pinto, J.P.2    Dias, V.3    Mascarenhas, C.4    Almeida, S.5    Porto, G.6
  • 126
    • 84861752996 scopus 로고    scopus 로고
    • Association between HFE polymorphisms and susceptibility to Alzheimer's disease: A meta-analysis of 22 studies including 4,365 cases and 8,652 controls
    • Lin M, Zhao L, Fan J, et al. Association between HFE polymorphisms and susceptibility to Alzheimer's disease: a meta-analysis of 22 studies including 4,365 cases and 8,652 controls. Mol Biol Rep. 2012;39(3):3089-3095.
    • (2012) Mol Biol Rep , vol.39 , Issue.3 , pp. 3089-3095
    • Lin, M.1    Zhao, L.2    Fan, J.3
  • 127
    • 84898860132 scopus 로고    scopus 로고
    • Mutations in the HFE gene and sporadic amyotrophic lateral sclerosis risk: A meta-analysis of observational studies
    • Li M, Wang L, Wang W, Qi XL, Tang ZY. Mutations in the HFE gene and sporadic amyotrophic lateral sclerosis risk: a meta-analysis of observational studies. Braz J Med Biol Res. 2014;47(3):215-222.
    • (2014) Braz J Med Biol Res , vol.47 , Issue.3 , pp. 215-222
    • Li, M.1    Wang, L.2    Wang, W.3    Qi, X.L.4    Tang, Z.Y.5
  • 128
    • 84927534827 scopus 로고    scopus 로고
    • The association between the C282Y and H63D polymorphisms of HFE gene and the risk of Parkinson's disease: A meta-analysis
    • Xia J, Xu H, Jiang H, Xie J. The association between the C282Y and H63D polymorphisms of HFE gene and the risk of Parkinson's disease: A meta-analysis. Neurosci Lett. 2015;595:99-103.
    • (2015) Neurosci Lett , vol.595 , pp. 99-103
    • Xia, J.1    Xu, H.2    Jiang, H.3    Xie, J.4


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