메뉴 건너뛰기




Volumn 346, Issue 5, 2013, Pages 403-412

Hemochromatosis and iron overload: From bench to clinic

Author keywords

Arthropathy; Cirrhosis; Diabetes; Hemochromatosis; Hepcidin; HFE; Iron

Indexed keywords

ASCORBIC ACID; CEFOTAXIME; CEFTAZIDIME; CIPROFLOXACIN; DOXYCYCLINE; HEMOGLOBIN; HEPCIDIN; IMMUNOGLOBULIN; IRON; NONHEME IRON PROTEIN;

EID: 84887261602     PISSN: 00029629     EISSN: 15382990     Source Type: Journal    
DOI: 10.1097/MAJ.0000000000000192     Document Type: Conference Paper
Times cited : (18)

References (101)
  • 2
    • 84966437078 scopus 로고
    • Die patholgischen pigmente
    • Virchow R. Die patholgischen pigmente. Arch Pathol Anat 1847;1: 379-486.
    • (1847) Arch Pathol Anat , vol.1 , pp. 379-486
    • Virchow, R.1
  • 3
    • 34447616174 scopus 로고
    • Nachweis von eisenoxyd in gewissen pigmenten
    • Perls M. Nachweis von eisenoxyd in gewissen pigmenten. Virchow Arch Pathol Anat 1867;39:42-8.
    • (1867) Virchow Arch Pathol Anat , vol.39 , pp. 42-48
    • Perls, M.1
  • 4
    • 39149136945 scopus 로고
    • Hepatic pathology in relatives of patients with haemochromatosis
    • Scheuer PJ, Williams R, Muir AR. Hepatic pathology in relatives of patients with haemochromatosis. J Pathol Bacteriol 1962;84:53-64.
    • (1962) J Pathol Bacteriol , vol.84 , pp. 53-64
    • Scheuer, P.J.1    Williams, R.2    Muir, A.R.3
  • 5
    • 0000501141 scopus 로고
    • Glycosurie, diabète sucré
    • 2nd edition, vol.2 Baillière, Paris
    • Trousseau A. Glycosurie, Diabète Sucré. Clinique Médical de l'Hôtel- Dieu de Paris. 2nd edition, vol.2 Baillière, Paris. 1865; 663-98.
    • (1865) Clinique Médical de L'Hôtel- Dieu de Paris , pp. 663-698
    • Trousseau, A.1
  • 8
    • 2942540036 scopus 로고
    • Cirrhose pigmentaire avec infantilisme et insuffisance cardiaque et aplasie endocriniennes multiples
    • Bezançon F, de Gennes L, Delarue J, et al. Cirrhose pigmentaire avec infantilisme et insuffisance cardiaque et aplasie endocriniennes multiples. Bull Mém Soc Med Hôp Paris 1932;48:967-74.
    • (1932) Bull Mém Soc Med Hôp Paris , vol.48 , pp. 967-974
    • Bezançon, F.1    De Gennes, L.2    Delarue, J.3
  • 12
    • 0016848003 scopus 로고
    • Hémochromatose idiopathique: Maladie associée a l'antigéne tissulaire HLA 3?
    • Simon M, Pawlotsky Y, Bourel M, et al. Hémochromatose idiopathique: maladie associée a l'antigéne tissulaire HLA 3? Nouv Presse Med 1975;4:1432.
    • (1975) Nouv Presse Med , vol.4 , pp. 1432
    • Simon, M.1    Pawlotsky, Y.2    Bourel, M.3
  • 14
    • 0023901798 scopus 로고
    • Prevalence of hemochromatosis among 11, 065 presumably healthy blood donors
    • Edwards CQ, Griffen LM, Goldgar D, et al. Prevalence of hemochromatosis among 11,065 presumably healthy blood donors. N Engl J Med 1988;318:1355-62.
    • (1988) N Engl J Med , vol.318 , pp. 1355-1362
    • Edwards, C.Q.1    Griffen, L.M.2    Goldgar, D.3
  • 15
    • 0028176811 scopus 로고
    • Iron overload in beta 2- microglobulin-deficient mice
    • de Sousa M, Reimao R, LaCerda R, et al. Iron overload in beta 2- microglobulin-deficient mice. Immunol Lett 1994;39:105-11.
    • (1994) Immunol Lett , vol.39 , pp. 105-111
    • De Sousa, M.1    Reimao, R.2    Lacerda, R.3
  • 16
    • 0029809511 scopus 로고    scopus 로고
    • Defective iron homeostasis in beta 2-microglobulin knockout mice recapitulates hereditary hemochromatosis in man
    • Santos M, Schilham MW, Rademakers LH, et al. Defective iron homeostasis in beta 2-microglobulin knockout mice recapitulates hereditary hemochromatosis in man. J Exp Med 1996;184:1975-85.
    • (1996) J Exp Med , vol.184 , pp. 1975-1985
    • Santos, M.1    Schilham, M.W.2    Rademakers, L.H.3
  • 17
    • 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;13:399-408.
    • (1996) Nat Genet , vol.13 , pp. 399-408
    • Feder, J.N.1    Gnirke, A.2    Thomas, W.3
  • 18
    • 0034284595 scopus 로고    scopus 로고
    • LEAP-1, a novel highly disulfide- bonded human peptide, exhibits antimicrobial activity
    • Krause A, Neitz S, Magert HJ, et al. LEAP-1, a novel highly disulfide- bonded human peptide, exhibits antimicrobial activity. FEBS Lett 2000;480:147-50.
    • (2000) FEBS Lett , vol.480 , pp. 147-150
    • Krause, A.1    Neitz, S.2    Magert, H.J.3
  • 19
    • 0035896642 scopus 로고    scopus 로고
    • Hepcidin, a urinary antimicrobial peptide synthesized in the liver
    • Park CH, Valore EV, Waring AJ, et al. Hepcidin, a urinary antimicrobial peptide synthesized in the liver. J Biol Chem 2001;276:7806-10.
    • (2001) J Biol Chem , vol.276 , pp. 7806-7810
    • Park, C.H.1    Valore, E.V.2    Waring, A.J.3
  • 20
    • 0035896581 scopus 로고    scopus 로고
    • A new mouse liver-specific gene, encoding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during iron overload
    • Pigeon C, Ilyin G, Courselaud B, et al. A new mouse liver-specific gene, encoding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during iron overload. J Biol Chem 2001; 276:7811-9.
    • (2001) J Biol Chem , vol.276 , pp. 7811-7819
    • Pigeon, C.1    Ilyin, G.2    Courselaud, B.3
  • 21
    • 0041672570 scopus 로고    scopus 로고
    • Hepcidin, a key regulator of iron metabolism and mediator of anemia of inflammation
    • Ganz T. Hepcidin, a key regulator of iron metabolism and mediator of anemia of inflammation. Blood 2003;102:783-8.
    • (2003) Blood , vol.102 , pp. 783-788
    • Ganz, T.1
  • 22
    • 0030712463 scopus 로고    scopus 로고
    • Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis
    • Parkkila S, Waheed A, Britton RS, et al. Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis. Proc Natl Acad Sci U S A 1997;94: 13198-202.
    • (1997) Proc Natl Acad Sci U S A , vol.94 , pp. 13198-13202
    • Parkkila, S.1    Waheed, A.2    Britton, R.S.3
  • 23
    • 0034118022 scopus 로고    scopus 로고
    • Cell surface expression of HFE protein in epithelial cells, macrophages, and monocytes
    • Parkkila S, Parkkila AK, Waheed A, et al. Cell surface expression of HFE protein in epithelial cells, macrophages, and monocytes. Haematologica 2000;85:340-5.
    • (2000) Haematologica , vol.85 , pp. 340-345
    • Parkkila, S.1    Parkkila, A.K.2    Waheed, A.3
  • 24
    • 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;272:14025-8.
    • (1997) J Biol Chem , vol.272 , pp. 14025-14028
    • Feder, J.N.1    Tsuchihashi, Z.2    Irrinki, A.3
  • 25
    • 70349494083 scopus 로고    scopus 로고
    • Bone morphogenetic protein signaling is impaired in an HFE knockout mouse model of hemochromatosis
    • Corradini E, Garuti C, Montosi G, et al. Bone morphogenetic protein signaling is impaired in an HFE knockout mouse model of hemochromatosis. Gastroenterology 2009;137:1489-97.
    • (2009) Gastroenterology , vol.137 , pp. 1489-1497
    • Corradini, E.1    Garuti, C.2    Montosi, G.3
  • 26
    • 0038156697 scopus 로고    scopus 로고
    • HLA-A and -B alleles and haplotypes in hemochromatosis probands with HFE C282Y homozygosity in central Alabama
    • Barton JC, Acton RT. HLA-A and -B alleles and haplotypes in hemochromatosis probands with HFE C282Y homozygosity in central Alabama. BMC Med Genet 2002;3:9.
    • (2002) BMC Med Genet , vol.3 , pp. 9
    • Barton, J.C.1    Acton, R.T.2
  • 28
    • 17944369464 scopus 로고    scopus 로고
    • Screening for hemochromatosis: High prevalence and low morbidity in an unselected population of 65, 238 persons
    • Asberg A, Hveem K, Thorstensen K, et al. Screening for hemochromatosis: high prevalence and low morbidity in an unselected population of 65,238 persons. Scand J Gastroenterol 2001;36:1108-15.
    • (2001) Scand J Gastroenterol , vol.36 , pp. 1108-1115
    • Asberg, A.1    Hveem, K.2    Thorstensen, K.3
  • 29
    • 0033517343 scopus 로고    scopus 로고
    • A population-based study of the clinical expression of the hemochromatosis gene
    • Olynyk JK, Cullen DJ, Aquilia S, et al. A population-based study of the clinical expression of the hemochromatosis gene. N Engl J Med 1999;341:718-24.
    • (1999) N Engl J Med , vol.341 , pp. 718-724
    • Olynyk, J.K.1    Cullen, D.J.2    Aquilia, S.3
  • 30
    • 57249103568 scopus 로고    scopus 로고
    • The natural history of serum iron indices for HFE C282Y homozygosity associated with hereditary hemochromatosis
    • Gurrin LC, Osborne NJ, Constantine CC, et al. The natural history of serum iron indices for HFE C282Y homozygosity associated with hereditary hemochromatosis. Gastroenterology 2008;135:1945-52.
    • (2008) Gastroenterology , vol.135 , pp. 1945-1952
    • Gurrin, L.C.1    Osborne, N.J.2    Constantine, C.C.3
  • 31
    • 34249746554 scopus 로고    scopus 로고
    • Geographic and racial/ethnic differences in HFE mutation frequencies in the Hemochromatosis and Iron Overload Screening (HEIRS) Study
    • Acton RT, Barton JC, Snively BM, et al. Geographic and racial/ethnic differences in HFE mutation frequencies in the Hemochromatosis and Iron Overload Screening (HEIRS) Study. Ethn Dis 2006;16:815-21.
    • (2006) Ethn Dis , vol.16 , pp. 815-821
    • Acton, R.T.1    Barton, J.C.2    Snively, B.M.3
  • 32
    • 0031794701 scopus 로고    scopus 로고
    • Prevalence of the C282Y mutation in Brittany: Penetrance of genetic hemochromatosis?
    • Jouanolle AM, Fergelot P, Raoul ML, et al. Prevalence of the C282Y mutation in Brittany: penetrance of genetic hemochromatosis? Ann Genet 1998;41:195-8.
    • (1998) Ann Genet , vol.41 , pp. 195-198
    • Jouanolle, A.M.1    Fergelot, P.2    Raoul, M.L.3
  • 33
    • 0034609577 scopus 로고    scopus 로고
    • The effect of HFE genotypes on measurements of iron overload in patients attending a health appraisal clinic
    • Beutler E, Felitti V, Gelbart T, et al. The effect of HFE genotypes on measurements of iron overload in patients attending a health appraisal clinic. Ann Intern Med 2000;133:329-37.
    • (2000) Ann Intern Med , vol.133 , pp. 329-337
    • Beutler, E.1    Felitti, V.2    Gelbart, T.3
  • 34
    • 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;352:1769-78.
    • (2005) N Engl J Med , vol.352 , pp. 1769-1778
    • Adams, P.C.1    Reboussin, D.M.2    Barton, J.C.3
  • 35
    • 27144541788 scopus 로고    scopus 로고
    • Initial screening transferrin saturation values, serum ferritin concentrations, and HFE genotypes in whites and blacks in the Hemochromatosis and Iron Overload Screening Study
    • Barton JC, Acton RT, Dawkins FW, et al. Initial screening transferrin saturation values, serum ferritin concentrations, and HFE genotypes in whites and blacks in the Hemochromatosis and Iron Overload Screening Study. Genet Test 2005;9:231-41.
    • (2005) Genet Test , vol.9 , pp. 231-241
    • Barton, J.C.1    Acton, R.T.2    Dawkins, F.W.3
  • 37
    • 34548594676 scopus 로고    scopus 로고
    • Hepcidin and its role in regulating systemic iron metabolism
    • Ganz T. Hepcidin and its role in regulating systemic iron metabolism. Hematology Am Soc Hematol Educ Program 2006;29-35:507.
    • (2006) Hematology Am Soc Hematol Educ Program , vol.29-35 , pp. 507
    • Ganz, T.1
  • 38
    • 10744225120 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. Hum Mol Genet 2003;12:2241-7.
    • (2003) Hum Mol Genet , vol.12 , pp. 2241-2247
    • Merryweather-Clarke, A.T.1    Cadet, E.2    Bomford, A.3
  • 40
    • 0037326566 scopus 로고    scopus 로고
    • Hemochromatosis and iron overload screening (heirs) study design for an evaluation of 100, 000 primary care-based adults
    • McLaren CE, Barton JC, Adams PC, et al. Hemochromatosis and Iron Overload Screening (HEIRS) study design for an evaluation of 100,000 primary care-based adults. Am J Med Sci 2003;325:53-62.
    • (2003) Am J Med Sci , vol.325 , pp. 53-62
    • McLaren, C.E.1    Barton, J.C.2    Adams, P.C.3
  • 41
    • 59149090150 scopus 로고    scopus 로고
    • Clinical manifestations of hemochromatosis in HFE C282Y homozygotes identified by screening
    • McLaren GD, McLaren CE, Adams PC, et al. Clinical manifestations of hemochromatosis in HFE C282Y homozygotes identified by screening. Can J Gastroenterol 2008;22:923-30.
    • (2008) Can J Gastroenterol , vol.22 , pp. 923-930
    • McLaren, G.D.1    McLaren, C.E.2    Adams, P.C.3
  • 42
    • 77955906218 scopus 로고    scopus 로고
    • How i treat hemochromatosis
    • Adams PC, Barton JC. How I treat hemochromatosis. Blood 2010; 116:317-25.
    • (2010) Blood , vol.116 , pp. 317-325
    • Adams, P.C.1    Barton, J.C.2
  • 44
    • 0027500840 scopus 로고
    • Preneoplastic significance of hepatic iron-free foci in genetic hemochromatosis: A study of 185 patients
    • Deugnier YM, Charalambous P, le Quilleuc D, et al. Preneoplastic significance of hepatic iron-free foci in genetic hemochromatosis: a study of 185 patients. Hepatology 1993;18:1363-9.
    • (1993) Hepatology , vol.18 , pp. 1363-1369
    • Deugnier, Y.M.1    Charalambous, P.2    Le Quilleuc, D.3
  • 45
    • 0027459086 scopus 로고
    • Primary liver cancer in genetic hemochromatosis: A clinical, pathological, and pathogenetic study of 54 cases
    • Deugnier YM, Guyader D, Crantock L, et al. Primary liver cancer in genetic hemochromatosis: a clinical, pathological, and pathogenetic study of 54 cases. Gastroenterology 1993;104:228-34.
    • (1993) Gastroenterology , vol.104 , pp. 228-234
    • Deugnier, Y.M.1    Guyader, D.2    Crantock, L.3
  • 47
    • 0005397389 scopus 로고
    • Sur la cirrhose pigmentaire dans le diabète sucre
    • Hanot V, Schachmann M. Sur la cirrhose pigmentaire dans le diabète sucre. Arch Physiol Norm Pathol 1866;7:50-72.
    • (1866) Arch Physiol Norm Pathol , vol.7 , pp. 50-72
    • Hanot, V.1    Schachmann, M.2
  • 48
    • 0001257976 scopus 로고
    • Idiopathic hemochromatosis, an iron storage disease
    • Finch SC, Finch CA. Idiopathic hemochromatosis, an iron storage disease. Medicine (Baltimore) 1955;34:381-430.
    • (1955) Medicine (Baltimore) , vol.34 , pp. 381-430
    • Finch, S.C.1    Finch, C.A.2
  • 49
    • 0014219920 scopus 로고
    • Physionomie actuelle du diabète sucre au cours de l'hémochromatosis idiopathique
    • Mirouze J, Schouker Y. Physionomie actuelle du diabète sucre au cours de l'hémochromatosis idiopathique. Presse Med 1967;45: 2245-50.
    • (1967) Presse Med , vol.45 , pp. 2245-2250
    • Mirouze, J.1    Schouker, Y.2
  • 50
    • 0023113440 scopus 로고
    • The haemochromatotic human pancreas: A quantitative immunohistochemical and ultrastructural study
    • Rahier J, Loozen S, Goebbels RM, et al. The haemochromatotic human pancreas: a quantitative immunohistochemical and ultrastructural study. Diabetologia 1987;30:5-12.
    • (1987) Diabetologia , vol.30 , pp. 5-12
    • Rahier, J.1    Loozen, S.2    Goebbels, R.M.3
  • 52
    • 0015295917 scopus 로고
    • Observations on the pathogenesis, complications and treatment of diabetes in 115 cases of haemochromatosis
    • Dymock IW, Cassar J, Pyke DA, et al. Observations on the pathogenesis, complications and treatment of diabetes in 115 cases of haemochromatosis. Am J Med 1972;52:203-10.
    • (1972) Am J Med , vol.52 , pp. 203-210
    • Dymock, I.W.1    Cassar, J.2    Pyke, D.A.3
  • 53
    • 33744919003 scopus 로고    scopus 로고
    • High prevalence of abnormal glucose homeostasis secondary to decreased insulin secretion in individuals with hereditary haemochromatosis
    • McClain DA, Abraham D, Rogers J, et al. High prevalence of abnormal glucose homeostasis secondary to decreased insulin secretion in individuals with hereditary haemochromatosis. Diabetologia 2006;49:1661-9.
    • (2006) Diabetologia , vol.49 , pp. 1661-1669
    • McClain, D.A.1    Abraham, D.2    Rogers, J.3
  • 54
    • 49049087287 scopus 로고    scopus 로고
    • Declining prevalence of diabetes mellitus in hereditary haemochromatosis\-The result of earlier diagnosis
    • O'Sullivan EP, McDermott JH, Murphy MS, et al. Declining prevalence of diabetes mellitus in hereditary haemochromatosis\-The result of earlier diagnosis. Diabetes Res Clin Pract 2008;81:316-20.
    • (2008) Diabetes Res Clin Pract , vol.81 , pp. 316-320
    • O'sullivan, E.P.1    McDermott, J.H.2    Murphy, M.S.3
  • 55
    • 0001844405 scopus 로고
    • Hemochromatosis and arthritis
    • Schumacher HR Jr. Hemochromatosis and arthritis. Arth Rheum 1964;7:41-50.
    • (1964) Arth Rheum , vol.7 , pp. 41-50
    • Schumacher Jr., H.R.1
  • 56
    • 12244312751 scopus 로고    scopus 로고
    • Association of heterozygous hemochromatosis C282Y gene mutation with hand osteoarthritis
    • Ross JM, Kowalchuk RM, Shaulinsky J, et al. Association of heterozygous hemochromatosis C282Y gene mutation with hand osteoarthritis. J Rheumatol 2003;30:121-5.
    • (2003) J Rheumatol , vol.30 , pp. 121-125
    • Ross, J.M.1    Kowalchuk, R.M.2    Shaulinsky, J.3
  • 57
    • 0033986704 scopus 로고    scopus 로고
    • Peripheral blood erythrocyte parameters in hemochromatosis: Evidence for increased erythrocyte hemoglobin content
    • Barton JC, Bertoli LF, Rothenberg BE. Peripheral blood erythrocyte parameters in hemochromatosis: evidence for increased erythrocyte hemoglobin content. J Lab Clin Med 2000;135:96-104.
    • (2000) J Lab Clin Med , vol.135 , pp. 96-104
    • Barton, J.C.1    Bertoli, L.F.2    Rothenberg, B.E.3
  • 58
    • 34848929077 scopus 로고    scopus 로고
    • Determinants and characteristics of mean corpuscular volume and hemoglobin concentration in white HFE C282Y homozygotes in the hemochromatosis and iron overload screening study
    • McLaren CE, Barton JC, Gordeuk VR, et al. Determinants and characteristics of mean corpuscular volume and hemoglobin concentration in white HFE C282Y homozygotes in the hemochromatosis and iron overload screening study. Am J Hematol 2007;82:898-905.
    • (2007) Am J Hematol , vol.82 , pp. 898-905
    • McLaren, C.E.1    Barton, J.C.2    Gordeuk, V.R.3
  • 59
    • 33846429620 scopus 로고    scopus 로고
    • Genomewide scans of red cell indices suggest linkage on chromosome 6q23
    • Iliadou A, Evans DM, Zhu G, et al. Genomewide scans of red cell indices suggest linkage on chromosome 6q23. J Med Genet 2007;44: 24-30.
    • (2007) J Med Genet , vol.44 , pp. 24-30
    • Iliadou, A.1    Evans, D.M.2    Zhu, G.3
  • 60
    • 0028484522 scopus 로고
    • Blood lead concentrations in hereditary hemochromatosis
    • Barton JC, Patton MA, Edwards CQ, et al. Blood lead concentrations in hereditary hemochromatosis. J Lab Clin Med 1994;124:193-8.
    • (1994) J Lab Clin Med , vol.124 , pp. 193-198
    • Barton, J.C.1    Patton, M.A.2    Edwards, C.Q.3
  • 61
    • 1842608808 scopus 로고    scopus 로고
    • Divalent metal transporter 1 in lead and cadmium transport
    • Bressler JP, Olivi L, Cheong JH, et al. Divalent metal transporter 1 in lead and cadmium transport. Ann N Y Acad Sci 2004;1012:142-52.
    • (2004) Ann N y Acad Sci , vol.1012 , pp. 142-152
    • Bressler, J.P.1    Olivi, L.2    Cheong, J.H.3
  • 62
    • 0014465766 scopus 로고
    • Alteration in cobalt absorption in patients with disorders of iron metabolism
    • Valberg LS, Ludwig J, Olatunbosun D. Alteration in cobalt absorption in patients with disorders of iron metabolism. Gastroenterology 1969;56:241-51.
    • (1969) Gastroenterology , vol.56 , pp. 241-251
    • Valberg, L.S.1    Ludwig, J.2    Olatunbosun, D.3
  • 63
    • 0342424288 scopus 로고    scopus 로고
    • Phlebotomy increases cadmium uptake in hemochromatosis
    • Akesson A, Stal P, Vahter M. Phlebotomy increases cadmium uptake in hemochromatosis. Environ Health Perspect 2000;108:289-91.
    • (2000) Environ Health Perspect , vol.108 , pp. 289-291
    • Akesson, A.1    Stal, P.2    Vahter, M.3
  • 66
    • 0038351779 scopus 로고    scopus 로고
    • Common variable immunodeficiency and IgG subclass deficiency in central Alabama hemochromatosis probands homozygous for HFE C282Y
    • Barton JC, Bertoli LF, Acton RT. Common variable immunodeficiency and IgG subclass deficiency in central Alabama hemochromatosis probands homozygous for HFE C282Y. Blood Cells Mol Dis 2003;31:102-11.
    • (2003) Blood Cells Mol Dis , vol.31 , pp. 102-111
    • Barton, J.C.1    Bertoli, L.F.2    Acton, R.T.3
  • 67
    • 0018390582 scopus 로고
    • Disease caused by a marine Vibrio Clinical characteristics and epidemiology
    • Blake PA, Merson MH, Weaver RE, et al. Disease caused by a marine Vibrio. Clinical characteristics and epidemiology. N Engl J Med 1979;300:1-5.
    • (1979) N Engl J Med , vol.300 , pp. 1-5
    • Blake, P.A.1    Merson, M.H.2    Weaver, R.E.3
  • 68
    • 0025860867 scopus 로고
    • Hemochromatosis, iron and septicemia caused by Vibrio vulnificus
    • Bullen JJ, Spalding PB, Ward CG, et al. Hemochromatosis, iron and septicemia caused by Vibrio vulnificus. Arch Intern Med 1991;151: 1606-9.
    • (1991) Arch Intern Med , vol.151 , pp. 1606-1609
    • Bullen, J.J.1    Spalding, P.B.2    Ward, C.G.3
  • 69
    • 0020517355 scopus 로고
    • Spectrum of Vibrio infections in a Gulf Coast community
    • Bonner JR, Coker AS, Berryman CR, et al. Spectrum of Vibrio infections in a Gulf Coast community. Ann Intern Med 1983;99:464-9.
    • (1983) Ann Intern Med , vol.99 , pp. 464-469
    • Bonner, J.R.1    Coker, A.S.2    Berryman, C.R.3
  • 70
    • 0024737292 scopus 로고
    • Hemochromatosis and infection: Alcohol and iron, oysters and sepsis
    • Muench KH. Hemochromatosis and infection: alcohol and iron, oysters and sepsis. Am J Med 1989;87:40N-3N.
    • (1989) Am J Med , vol.87
    • Muench, K.H.1
  • 71
    • 0023741616 scopus 로고
    • Syndromes of Vibrio vulnificus infections. Clinical and epidemiologic features in Florida cases, 1981-1987
    • Klontz KC, Lieb S, Schreiber M, et al. Syndromes of Vibrio vulnificus infections. Clinical and epidemiologic features in Florida cases, 1981-1987. Ann Intern Med 1988;109:318-23.
    • (1988) Ann Intern Med , vol.109 , pp. 318-323
    • Klontz, K.C.1    Lieb, S.2    Schreiber, M.3
  • 72
    • 70349653043 scopus 로고    scopus 로고
    • Hemochromatosis and Vibrio vulnificus wound infections
    • Barton JC, Acton RT. Hemochromatosis and Vibrio vulnificus wound infections. J Clin Gastroenterol 2009;43:890-3.
    • (2009) J Clin Gastroenterol , vol.43 , pp. 890-893
    • Barton, J.C.1    Acton, R.T.2
  • 73
    • 85206957132 scopus 로고
    • Acute abdominal crises, circulatory collapse and sudden death in haemochromatosis
    • MacSween RNM. Acute abdominal crises, circulatory collapse and sudden death in haemochromatosis. Q J Med 1966;35:389-98.
    • (1966) Q J Med , vol.35 , pp. 389-398
    • Rnm, M.1
  • 74
    • 0022370206 scopus 로고
    • Escherichia coli bacteremia, meningitis, and hemochromatosis
    • Christopher GW. Escherichia coli bacteremia, meningitis, and hemochromatosis. Arch Intern Med 1985;145:1908.
    • (1985) Arch Intern Med , vol.145 , pp. 1908
    • Christopher, G.W.1
  • 75
    • 0029114845 scopus 로고
    • Overwhelming gram-negative septic shock in haemochromatosis
    • Corke PJ, McLean AS, Stewart D, et al. Overwhelming gram-negative septic shock in haemochromatosis. Anaesth Intensive Care 1995; 23:346-9.
    • (1995) Anaesth Intensive Care , vol.23 , pp. 346-349
    • Corke, P.J.1    McLean, A.S.2    Stewart, D.3
  • 76
    • 4544255777 scopus 로고    scopus 로고
    • The origin and spread of the HFE-C282Y haemochromatosis mutation
    • Distante S, Robson KJ, Graham-Campbell J, et al. The origin and spread of the HFE-C282Y haemochromatosis mutation. Hum Genet 2004;115:269-79.
    • (2004) Hum Genet , vol.115 , pp. 269-279
    • Distante, S.1    Robson, K.J.2    Graham-Campbell, J.3
  • 77
    • 0036323691 scopus 로고    scopus 로고
    • The role of hemochromatosis susceptibility gene mutations in protecting against iron deficiency in celiac disease
    • Butterworth JR, Cooper BT, Rosenberg WM, et al. The role of hemochromatosis susceptibility gene mutations in protecting against iron deficiency in celiac disease. Gastroenterology 2002;123:444-9.
    • (2002) Gastroenterology , vol.123 , pp. 444-449
    • Butterworth, J.R.1    Cooper, B.T.2    Rosenberg, W.M.3
  • 78
    • 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;70:691-2.
    • (2008) Med Hypotheses , vol.70 , pp. 691-692
    • Naugler, C.1
  • 79
    • 5144230879 scopus 로고    scopus 로고
    • Iron absorption in carriers of the C282Y hemochromatosis mutation
    • Beutler E. Iron absorption in carriers of the C282Y hemochromatosis mutation. Am J Clin Nutr 2004;80:799-800.
    • (2004) Am J Clin Nutr , vol.80 , pp. 799-800
    • Beutler, E.1
  • 80
    • 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;33:21-2.
    • (2003) Nat Genet , vol.33 , pp. 21-22
    • Roetto, A.1    Papanikolaou, G.2    Politou, M.3
  • 81
    • 0033358675 scopus 로고    scopus 로고
    • Juvenile hemochromatosis locus maps to chromosome 1q
    • Roetto A, Totaro A, Cazzola M, et al. Juvenile hemochromatosis locus maps to chromosome 1q. Am J Hum Genet 1999;64:1388-93.
    • (1999) Am J Hum Genet , vol.64 , pp. 1388-1393
    • Roetto, A.1    Totaro, A.2    Cazzola, M.3
  • 82
    • 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;36:77-82.
    • (2004) Nat Genet , vol.36 , pp. 77-82
    • Papanikolaou, G.1    Samuels, M.E.2    Ludwig, E.H.3
  • 83
    • 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; 25:14-5.
    • (2000) Nat Genet , vol.25 , pp. 14-15
    • Camaschella, C.1    Roetto, A.2    Cali, A.3
  • 84
    • 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;108:619-23.
    • (2001) J Clin Invest , vol.108 , pp. 619-623
    • Montosi, G.1    Donovan, A.2    Totaro, A.3
  • 85
    • 33644798951 scopus 로고    scopus 로고
    • Genetic and clinical heterogeneity of ferroportin disease
    • Cremonesi L, Forni GL, Soriani N, et al. Genetic and clinical heterogeneity of ferroportin disease. Br J Haematol 2005;131:663-70.
    • (2005) Br J Haematol , vol.131 , pp. 663-670
    • Cremonesi, L.1    Forni, G.L.2    Soriani, N.3
  • 86
    • 84871365925 scopus 로고    scopus 로고
    • In: Barton JC, Edwards CQ, Phatak PD, et al, editors. Cambridge, England: Cambridge University Press
    • Barton JC, Edwards CQ, Phatak PD, et al. Handbook of Iron Overload Disorders. In: Barton JC, Edwards CQ, Phatak PD, et al, editors. Cambridge, England: Cambridge University Press; 2010.
    • (2010) Handbook of Iron Overload Disorders
    • Barton, J.C.1    Edwards, C.Q.2    Phatak, P.D.3
  • 88
    • 2542468736 scopus 로고    scopus 로고
    • Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis
    • Lanzara C, Roetto A, Daraio F, et al. Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis. Blood 2004;103: 4317-21.
    • (2004) Blood , vol.103 , pp. 4317-4321
    • Lanzara, C.1    Roetto, A.2    Daraio, F.3
  • 89
    • 2942619988 scopus 로고    scopus 로고
    • Genetic abnormalities and juvenile hemochromatosis: Mutations of the HJV gene encoding hemojuvelin
    • Lee PL, Beutler E, Rao SV, et al. Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin. Blood 2004;103:4669-71.
    • (2004) Blood , vol.103 , pp. 4669-4671
    • Lee, P.L.1    Beutler, E.2    Rao, S.V.3
  • 90
    • 0034144525 scopus 로고    scopus 로고
    • Clinical and molecular aspects of juvenile hemochromatosis in Saguenay-Lac-Saint-Jean (Quebec, Canada)
    • Rivard SR, Mura C, Simard H, et al. Clinical and molecular aspects of juvenile hemochromatosis in Saguenay-Lac-Saint-Jean (Quebec, Canada). Blood Cells Mol Dis 2000;26:10-4.
    • (2000) Blood Cells Mol Dis , vol.26 , pp. 10-14
    • Rivard, S.R.1    Mura, C.2    Simard, H.3
  • 91
    • 19944428029 scopus 로고    scopus 로고
    • Homozygosity for a novel nonsense mutation (G66X) of the HJV gene causes severe juvenile hemochromatosis with fatal cardiomyopathy
    • Janosi A, Andrikovics H, Vas K, et al. Homozygosity for a novel nonsense mutation (G66X) of the HJV gene causes severe juvenile hemochromatosis with fatal cardiomyopathy. Blood 2005;105:432.
    • (2005) Blood , vol.105 , pp. 432
    • Janosi, A.1    Andrikovics, H.2    Vas, K.3
  • 92
    • 0032531982 scopus 로고    scopus 로고
    • Juvenile genetic hemochromatosis is clinically and genetically distinct from the classical HLArelated disorder
    • Cazzola M, Cerani P, Rovati A, et al. Juvenile genetic hemochromatosis is clinically and genetically distinct from the classical HLArelated disorder. Blood 1998;92:2979-81.
    • (1998) Blood , vol.92 , pp. 2979-2981
    • Cazzola, M.1    Cerani, P.2    Rovati, A.3
  • 93
    • 0017197717 scopus 로고
    • Patterns of food iron absorption in iron-deficient white and indian subjects and in venesected haemochromatotic patients
    • Bezwoda WR, Disler PB, Lynch SR, et al. Patterns of food iron absorption in iron-deficient white and indian subjects and in venesected haemochromatotic patients. Br J Haematol 1976;33:425-36.
    • (1976) Br J Haematol , vol.33 , pp. 425-436
    • Bezwoda, W.R.1    Disler, P.B.2    Lynch, S.R.3
  • 94
    • 0018140850 scopus 로고
    • Influence of food iron absorption on the plasma iron level in idiopathic hemochromatosis
    • Milder MS, Cook JD, Finch CA. Influence of food iron absorption on the plasma iron level in idiopathic hemochromatosis. Acta Haematol 1978;60:65-75.
    • (1978) Acta Haematol , vol.60 , pp. 65-75
    • Milder, M.S.1    Cook, J.D.2    Finch, C.A.3
  • 95
    • 10844258104 scopus 로고    scopus 로고
    • Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization
    • Nemeth E, Tuttle MS, Powelson J, et al. Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization. Science 2004;306:2090-3.
    • (2004) Science , vol.306 , pp. 2090-2093
    • Nemeth, E.1    Tuttle, M.S.2    Powelson, J.3
  • 96
    • 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;28:213-4.
    • (2001) Nat Genet , vol.28 , pp. 213-214
    • Njajou, O.T.1    Vaessen, N.2    Joosse, M.3
  • 97
    • 21144435281 scopus 로고    scopus 로고
    • The molecular basis of ferroportin-linked hemochromatosis
    • De Domenico I, Ward DM, Nemeth E, et al. The molecular basis of ferroportin-linked hemochromatosis. Proc Natl Acad Sci U S A 2005; 102:8955-60.
    • (2005) Proc Natl Acad Sci U S A , vol.102 , pp. 8955-8960
    • De Domenico, I.1    Ward, D.M.2    Nemeth, E.3
  • 98
    • 13844270538 scopus 로고    scopus 로고
    • Autosomal dominant hereditary hemochromatosis associated with a novel ferroportin mutation and unique clinical features
    • Sham RL, Phatak PD, West C, et al. Autosomal dominant hereditary hemochromatosis associated with a novel ferroportin mutation and unique clinical features. Blood Cells Mol Dis 2005;34: 157-61.
    • (2005) Blood Cells Mol Dis , vol.34 , pp. 157-161
    • Sham, R.L.1    Phatak, P.D.2    West, C.3
  • 99
    • 34547425285 scopus 로고    scopus 로고
    • SLC40A1 Q248H allele frequencies and Q248H-associated risk of non-HFE iron overload in persons of sub-Saharan African descent
    • Barton JC, Acton RT, Lee PL, et al. SLC40A1 Q248H allele frequencies and Q248H-associated risk of non-HFE iron overload in persons of sub-Saharan African descent. Blood Cells Mol Dis 2007; 39:206-11.
    • (2007) Blood Cells Mol Dis , vol.39 , pp. 206-211
    • Barton, J.C.1    Acton, R.T.2    Lee, P.L.3
  • 101
    • 0033086244 scopus 로고    scopus 로고
    • Diagnosis of hemochromatosis in family members of probands: A comparison of phenotyping and HFE genotyping
    • Barton JC, Rothenberg BE, Bertoli LF, et al. Diagnosis of hemochromatosis in family members of probands: a comparison of phenotyping and HFE genotyping. Genet Med 1999;1:89-93.
    • (1999) Genet Med , vol.1 , pp. 89-93
    • Barton, J.C.1    Rothenberg, B.E.2    Bertoli, L.F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.