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Volumn 1, Issue 2000, 2000, Pages 75-98

Iron metabolism: Iron deficiency and iron overload

Author keywords

Anemia; Divalent metal transporter 1; Ferritin; Hemochromatosis; Transferrin

Indexed keywords

BACTERIA (MICROORGANISMS);

EID: 0034575478     PISSN: 15278204     EISSN: None     Source Type: Book Series    
DOI: 10.1146/annurev.genom.1.1.75     Document Type: Article
Times cited : (158)

References (147)
  • 1
    • 0018850440 scopus 로고
    • Iron transport and storage proteins
    • Aisen P, Listowsky I. 1980. Iron transport and storage proteins. Annu. Rev. Biochem. 49:357-93
    • (1980) Annu. Rev. Biochem. , vol.49 , pp. 357-393
    • Aisen, P.1    Listowsky, I.2
  • 2
    • 16944362620 scopus 로고    scopus 로고
    • Haplotype analysis of hemochromatosis: Evaluation of different linkage-disequilibrium approaches and evolution of disease chromosomes
    • Ajioka RS, Jorde LB, Gruen JR, Dimitrova D, Barrow J, et al. 1997. Haplotype analysis of hemochromatosis: evaluation of different linkage-disequilibrium approaches and evolution of disease chromosomes. Am. J. Hum. Genet. 60:1439-47
    • (1997) Am. J. Hum. Genet. , vol.60 , pp. 1439-1447
    • Ajioka, R.S.1    Jorde, L.B.2    Gruen, J.R.3    Dimitrova, D.4    Barrow, J.5
  • 3
    • 0032920837 scopus 로고    scopus 로고
    • Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sider-oblastic anemia and ataxia (XLSA/A)
    • Allikmets R, Raskind WH, Hutchinson A, Schueck ND, Dean M, Koeller DM. 1999. Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sider-oblastic anemia and ataxia (XLSA/A). Hum. Mol. Genet. 8:743-49
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 743-749
    • Allikmets, R.1    Raskind, W.H.2    Hutchinson, A.3    Schueck, N.D.4    Dean, M.5    Koeller, D.M.6
  • 4
    • 0025149021 scopus 로고
    • Inhibition of receptor-mediated endocytosis of diferrin transferrin is associated with covalent modification of the transferrin receptor with palmitic acid
    • Alvarez E, Girones N, Davis RJ. 1990. Inhibition of receptor-mediated endocytosis of diferrin transferrin is associated with covalent modification of the transferrin receptor with palmitic acid. J. Biol. Chem. 265:16644-55
    • (1990) J. Biol. Chem. , vol.265 , pp. 16644-16655
    • Alvarez, E.1    Girones, N.2    Davis, R.J.3
  • 5
    • 0025276236 scopus 로고
    • A point mutation in the cytoplasmic domain of the transferrin receptor inhibits endocytosis
    • Alvarez E, Girones N, Davis RJ. 1990. A point mutation in the cytoplasmic domain of the transferrin receptor inhibits endocytosis. Biochem. J. 267:31-35
    • (1990) Biochem. J. , vol.267 , pp. 31-35
    • Alvarez, E.1    Girones, N.2    Davis, R.J.3
  • 6
    • 0001426856 scopus 로고    scopus 로고
    • Disorders of iron metabolism and sideroblastic anemia
    • ed. DG Nathan, SH Orkin, Philadelphia: Saunders. 968 pp.
    • Andrews NC, Bridges KR. 1997. Disorders of iron metabolism and sideroblastic anemia. In Hematol. Infancy Childhood, ed. DG Nathan, SH Orkin, 1:423-61. Philadelphia: Saunders. 968 pp.
    • (1997) Hematol. Infancy Childhood , vol.1 , pp. 423-461
    • Andrews, N.C.1    Bridges, K.R.2
  • 7
    • 0033504545 scopus 로고    scopus 로고
    • Commentary on: Ferrokinetics in the syndrome of familial hypoferremic microcytic anemia with iron malabsorption
    • Andrews NC, Fleming MD. 1999. Commentary on: ferrokinetics in the syndrome of familial hypoferremic microcytic anemia with iron malabsorption. J. Pediatr. Hematol Oncol. 21:353-55
    • (1999) J. Pediatr. Hematol Oncol. , vol.21 , pp. 353-355
    • Andrews, N.C.1    Fleming, M.D.2
  • 8
    • 0026738649 scopus 로고
    • Hallervorden-Spatz disease: Clinical and MRI study of 11 cases diagnosed in life
    • Angelini L, Nardocci N, Rumi V, Zorzi C, Strada L, Savoiardo M. 1992. Hallervorden-Spatz disease: clinical and MRI study of 11 cases diagnosed in life. J. Neurol. 239:417-25
    • (1992) J. Neurol. , vol.239 , pp. 417-425
    • Angelini, L.1    Nardocci, N.2    Rumi, V.3    Zorzi, C.4    Strada, L.5    Savoiardo, M.6
  • 9
    • 0028058038 scopus 로고
    • The FET3 gene of S. Cerevisiae encodes a multicopper oxidase required for ferrous iron uptake
    • Askwith C, Eide D, Van Ho A, Bernard PS, Li LT, et al. 1994. The FET3 gene of S. cerevisiae encodes a multicopper oxidase required for ferrous iron uptake. Cell 76:403-10
    • (1994) Cell , vol.76 , pp. 403-410
    • Askwith, C.1    Eide, D.2    Van Ho, A.3    Bernard, P.S.4    Li, L.T.5
  • 10
    • 0030846021 scopus 로고    scopus 로고
    • Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin
    • Babcock M, De Silva D, Oaks R, Davis-Kaplan S, Jiralerspong S, et al. 1997. Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin. Science 276:1709-12
    • (1997) Science , vol.276 , pp. 1709-1712
    • Babcock, M.1    De Silva, D.2    Oaks, R.3    Davis-Kaplan, S.4    Jiralerspong, S.5
  • 11
    • 0029844694 scopus 로고    scopus 로고
    • Hereditary iron overload and African Americans
    • Baer D. 1996. Hereditary iron overload and African Americans. Am. J. Med. 101:5-8
    • (1996) Am. J. Med. , vol.101 , pp. 5-8
    • Baer, D.1
  • 12
    • 0028351940 scopus 로고
    • Renal proximal tubular dysgenesis associated with severe neonatal hemosiderotic liver disease
    • Bale PM, Kan AE, Dorney SF. 1994. Renal proximal tubular dysgenesis associated with severe neonatal hemosiderotic liver disease. Pediatr. Pathol. 14:479-89
    • (1994) Pediatr. Pathol. , vol.14 , pp. 479-489
    • Bale, P.M.1    Kan, A.E.2    Dorney, S.F.3
  • 13
    • 0025924788 scopus 로고
    • A new role for the transferrin receptor in the release of iron from transferrin
    • Bali PK, Zak O, Aisen P. 1991. A new role for the transferrin receptor in the release of iron from transferrin. Biochemistry 30:324-28
    • (1991) Biochemistry , vol.30 , pp. 324-328
    • Bali, P.K.1    Zak, O.2    Aisen, P.3
  • 14
    • 0019468769 scopus 로고
    • Of mice and men and microcytes
    • Bannerman RM. 1981. Of mice and men and microcytes. J. Pediatr. 98:760-62
    • (1981) J. Pediatr. , vol.98 , pp. 760-762
    • Bannerman, R.M.1
  • 15
    • 0014005552 scopus 로고
    • Sexlinked anemia: A hypochromic anemia of mice
    • Bannerman RM, Cooper RG. 1966. Sexlinked anemia: a hypochromic anemia of mice. Science 151:581-82
    • (1966) Science , vol.151 , pp. 581-582
    • Bannerman, R.M.1    Cooper, R.G.2
  • 18
    • 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. 1999. 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. 25:147-55
    • (1999) Blood Cells Mol. Dis. , vol.25 , pp. 147-155
    • Barton, J.C.1    Sawada-Hirai, R.2    Rothenberg, B.E.3    Acton, R.T.4
  • 19
    • 0023522698 scopus 로고
    • Hereditary hypotransferrinemia with hemosiderosis, a murine disorder resembling human atransferrinemia
    • Bernstein SE. 1987. Hereditary hypotransferrinemia with hemosiderosis, a murine disorder resembling human atransferrinemia. J. Lab. Clin. Med. 110:690-705
    • (1987) J. Lab. Clin. Med. , vol.110 , pp. 690-705
    • Bernstein, S.E.1
  • 20
    • 0040234197 scopus 로고
    • Blaud P. 1832. Sur les maladies chlorotiques et sur un mode de traitement specifique dans ces affections. Rev. Med. Franc. Etrang. 45:357-67
    • (1832) Rev. Med. Franc. Etrang. , vol.45 , pp. 357-367
    • Blaud, P.1
  • 23
    • 0019499705 scopus 로고
    • Malabsorption and defective utilization of iron in three siblings
    • Buchanan GR, Sheehan RG. 1981. Malabsorption and defective utilization of iron in three siblings. J. Pediatr. 98:723-28
    • (1981) J. Pediatr. , vol.98 , pp. 723-728
    • Buchanan, G.R.1    Sheehan, R.G.2
  • 26
    • 13344270899 scopus 로고    scopus 로고
    • Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
    • Campuzano V, Montermini L, Molto MD, Pianese L, Cossee M, et al. 1996. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271:1423-27
    • (1996) Science , vol.271 , pp. 1423-1427
    • Campuzano, V.1    Montermini, L.2    Molto, M.D.3    Pianese, L.4    Cossee, M.5
  • 27
    • 0029008796 scopus 로고
    • Neonatal haemochromatosis associated with Down syndrome
    • Cheung PC, Ng WF, Chan AK. 1995. Neonatal haemochromatosis associated with Down syndrome. J. Paediatr. Child Health 31:249-52
    • (1995) J. Paediatr. Child Health , vol.31 , pp. 249-252
    • Cheung, P.C.1    Ng, W.F.2    Chan, A.K.3
  • 28
    • 0040828822 scopus 로고
    • A sketch of the history of treatment of chlorosis with iron
    • Christian AH. 1903. A sketch of the history of treatment of chlorosis with iron. Med. Libr. Hist. J. 1:176-80
    • (1903) Med. Libr. Hist. J. , vol.1 , pp. 176-180
    • Christian, A.H.1
  • 30
    • 0027976808 scopus 로고
    • X-linked pyridoxine-responsive sideroblastic anemia due to a Thr388-to-Ser substitution in erythroid 5-aminolevulinate synthase
    • Cox TC, Bottomley SS, Wiley JS, Bawden MJ, Matthews CS, May BK. 1994. X-linked pyridoxine-responsive sideroblastic anemia due to a Thr388-to-Ser substitution in erythroid 5-aminolevulinate synthase. N. Engl. J. Med. 330:675-79
    • (1994) N. Engl. J. Med. , vol.330 , pp. 675-679
    • Cox, T.C.1    Bottomley, S.S.2    Wiley, J.S.3    Bawden, M.J.4    Matthews, C.S.5    May, B.K.6
  • 31
    • 0032414310 scopus 로고    scopus 로고
    • Identification of a human mitochondrial ABC transporter, the functional orthologue of yeast Atm1p
    • Csere P, Lill R, Kispal G. 1998. Identification of a human mitochondrial ABC transporter, the functional orthologue of yeast Atm1p. FEBS Lett. 441:266-70
    • (1998) FEBS Lett. , vol.441 , pp. 266-270
    • Csere, P.1    Lill, R.2    Kispal, G.3
  • 33
    • 0025153697 scopus 로고
    • Iron storage disease in parents and sibs of infants with neonatal hemochromatosis: 30-year follow-up
    • Dalhoj J, Kiaer H, Wiggers P, Grady RW, Jones RL, Knisely AS. 1990. Iron storage disease in parents and sibs of infants with neonatal hemochromatosis: 30-year follow-up. Am. J. Med. Genet. 37:342-45
    • (1990) Am. J. Med. Genet. , vol.37 , pp. 342-345
    • Dalhoj, J.1    Kiaer, H.2    Wiggers, P.3    Grady, R.W.4    Jones, R.L.5    Knisely, A.S.6
  • 34
    • 0039642371 scopus 로고
    • A genetic study of neonatal obstructive jaundice
    • Danks D, Bodian M. 1963. A genetic study of neonatal obstructive jaundice. Arch. Dis. Child. 38:378-90
    • (1963) Arch. Dis. Child. , vol.38 , pp. 378-390
    • Danks, D.1    Bodian, M.2
  • 37
    • 0028153637 scopus 로고
    • Histological analysis of selected brain regions of hypotransferrinemic mice
    • Dickinson T, Connor JR. 1994. Histological analysis of selected brain regions of hypotransferrinemic mice. Brain Res. 635:169-78
    • (1994) Brain Res. , vol.635 , pp. 169-178
    • Dickinson, T.1    Connor, J.R.2
  • 38
    • 0002600476 scopus 로고
    • Neonatal hemochromatosis: Evidence for autosomal recessive inheritance
    • Abstr.
    • Driscoll SG, Hayes AM, Levy HL. 1988. Neonatal hemochromatosis: evidence for autosomal recessive inheritance. Am. J. Hum. Genet. 43:A232 (Abstr.)
    • (1988) Am. J. Hum. Genet. , vol.43
    • Driscoll, S.G.1    Hayes, A.M.2    Levy, H.L.3
  • 39
    • 0034677467 scopus 로고    scopus 로고
    • Positional cloning of Zebrafish ferroportin 1 identifies a conserved vertebrate iron exporter
    • Donovan A, Brownlie A, Shepard J, Pratt SJ, Moynihan J, et al. 2000. Positional cloning of Zebrafish ferroportin 1 identifies a conserved vertebrate iron exporter. Nature 403:776-81
    • (2000) Nature , vol.403 , pp. 776-781
    • Donovan, A.1    Brownlie, A.2    Shepard, J.3    Pratt, S.J.4    Moynihan, J.5
  • 42
    • 0014866334 scopus 로고
    • Hereditary defect of intestinal iron transport in mice with sex-linked anemia
    • Edwards JA, Bannerman RM. 1970. Hereditary defect of intestinal iron transport in mice with sex-linked anemia. J. Clin. Invest. 49:1869-71
    • (1970) J. Clin. Invest. , vol.49 , pp. 1869-1871
    • Edwards, J.A.1    Bannerman, R.M.2
  • 43
    • 0015415675 scopus 로고
    • Defect of intestinal mucosal iron uptake in mice with hereditary microcytic anemia
    • Edwards JA, Hoke JE. 1972. Defect of intestinal mucosal iron uptake in mice with hereditary microcytic anemia. Proc. Soc. Exp. Biol. Med. 141:81-84
    • (1972) Proc. Soc. Exp. Biol. Med. , vol.141 , pp. 81-84
    • Edwards, J.A.1    Hoke, J.E.2
  • 44
    • 0016750343 scopus 로고
    • Red cell iron uptake in hereditary microcytic anemia
    • Edwards JA, Hoke JE. 1975. Red cell iron uptake in hereditary microcytic anemia. Blood 46:381-88
    • (1975) Blood , vol.46 , pp. 381-388
    • Edwards, J.A.1    Hoke, J.E.2
  • 45
    • 0032423846 scopus 로고    scopus 로고
    • Interaction of the hemochromatosis gene product HFE with transferrin receptor modulates cellular iron metabolism
    • Eisenstein RS, 1998. Interaction of the hemochromatosis gene product HFE with transferrin receptor modulates cellular iron metabolism. Nutr. Rev. 56:356-58
    • (1998) Nutr. Rev. , vol.56 , pp. 356-358
    • Eisenstein, R.S.1
  • 46
    • 0032410688 scopus 로고    scopus 로고
    • Iron regulatory proteins, iron responsive elements and iron homeostasis
    • Eisenstein RS, Blemings KP. 1998. Iron regulatory proteins, iron responsive elements and iron homeostasis. J. Nutr. 128:2295-98
    • (1998) J. Nutr. , vol.128 , pp. 2295-2298
    • Eisenstein, R.S.1    Blemings, Kp.2
  • 47
    • 84974183672 scopus 로고
    • The genetics of sex-linked anaemia in the mouse
    • Falconer DS, Isaacson JH. 1962. The genetics of sex-linked anaemia in the mouse. Genet. Res. 3:248-50
    • (1962) Genet. Res. , vol.3 , pp. 248-250
    • Falconer, D.S.1    Isaacson, J.H.2
  • 48
    • 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, et al. 1996. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat. Genet. 13:399-408
    • (1996) Nat. Genet. , vol.13 , pp. 399-408
    • Feder, J.N.1    Gnirke, A.2    Thomas, W.3    Tsuchihashi, Z.4    Ruddy, D.A.5
  • 49
    • 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, Lebron JA, et al. 1998. The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc. Natl. Acad. Sci. USA 95:1472-77
    • (1998) Proc. Natl. Acad. Sci. USA , vol.95 , pp. 1472-1477
    • Feder, J.N.1    Penny, D.M.2    Irrinki, A.3    Lee, V.K.4    Lebron, J.A.5
  • 50
    • 0028049495 scopus 로고
    • Regulators of iron balance in humans
    • Finch C. 1994. Regulators of iron balance in humans. Blood 84:1697-702
    • (1994) Blood , vol.84 , pp. 1697-1702
    • Finch, C.1
  • 52
    • 0030763856 scopus 로고    scopus 로고
    • Microcytic anemia mice have a mutation in Nramp2, a candidate iron transporter gene
    • Fleming MD, Trenor CCI, Su MA, Foernzler D, Beier DR, et al. 1997. Microcytic anemia mice have a mutation in Nramp2, a candidate iron transporter gene. Nat. Genet. 16:383-86
    • (1997) Nat. Genet. , vol.16 , pp. 383-386
    • Fleming, M.D.1    Trenor, C.C.I.2    Su, M.A.3    Foernzler, D.4    Beier, D.R.5
  • 53
    • 4243210173 scopus 로고    scopus 로고
    • Studies of NRAMP2, transferrin receptor and transferrin genes as candidate genes for human hereditary microcytic anemia due to defective iron absorption and utilization
    • Abstr.
    • Galanello R, Cau M, Melis MA, Deidda F, Cao A, Cazzola M. 1998. Studies of NRAMP2, transferrin receptor and transferrin genes as candidate genes for human hereditary microcytic anemia due to defective iron absorption and utilization. Blood 92S:669a (Abstr.)
    • (1998) Blood , vol.92 S
    • Galanello, R.1    Cau, M.2    Melis, M.A.3    Deidda, F.4    Cao, A.5    Cazzola, M.6
  • 55
    • 0025955191 scopus 로고
    • Mutational analysis of the cytoplasmic tail of the human transferrin receptor: Identification of a subdomain that is required for rapid endocytosis
    • Girones N, Alvarez E, Seth A, Lin IM, Latour DA, Davis RJ. 1991. Mutational analysis of the cytoplasmic tail of the human transferrin receptor: identification of a subdomain that is required for rapid endocytosis. J. Biol. Chem. 266:19006-12
    • (1991) J. Biol. Chem. , vol.266 , pp. 19006-19012
    • Girones, N.1    Alvarez, E.2    Seth, A.3    Lin, I.M.4    Latour, D.A.5    Davis, R.J.6
  • 56
    • 0019861805 scopus 로고
    • Idiopathic neonatal iron storage involving the liver, pancreas, heart, and endocrine and exocrine glands
    • Goldfischer S, Grotsky HW, Chang CH, Berman EL, Kichert RR, et al. 1981. Idiopathic neonatal iron storage involving the liver, pancreas, heart, and endocrine and exocrine glands. Hepatology 1:58-64
    • (1981) Hepatology , vol.1 , pp. 58-64
    • Goldfischer, S.1    Grotsky, H.W.2    Chang, C.H.3    Berman, E.L.4    Kichert, R.R.5
  • 59
    • 0026570760 scopus 로고
    • Hereditary and nutritional iron overload
    • Gordeuk VR. 1992. Hereditary and nutritional iron overload. Baillieres Clin. Haematol 5:169-86
    • (1992) Baillieres Clin. Haematol , vol.5 , pp. 169-186
    • Gordeuk, V.R.1
  • 60
    • 0015384214 scopus 로고
    • A family of congenital atransferrinemia
    • Goya N, Miyazaki S, Kodate S, Ushio B. 1972. A family of congenital atransferrinemia. Blood 40:239-45
    • (1972) Blood , vol.40 , pp. 239-245
    • Goya, N.1    Miyazaki, S.2    Kodate, S.3    Ushio, B.4
  • 61
    • 0029337517 scopus 로고
    • Chlorosis: The rise and disappearance of a nutritional disease
    • Guggenheim KY. 1995. Chlorosis: the rise and disappearance of a nutritional disease. J. Nutr. 125:1822-25
    • (1995) J. Nutr. , vol.125 , pp. 1822-1825
    • Guggenheim, K.Y.1
  • 62
    • 0030755366 scopus 로고    scopus 로고
    • Cloning and characterization of a mammalian proton-coupled metal-ion transporter
    • Gunshin H, Mackenzie B, Berger UV, Gunshin Y, Romero MF, et al. 1997. Cloning and characterization of a mammalian proton-coupled metal-ion transporter. Nature 388:482-88
    • (1997) Nature , vol.388 , pp. 482-488
    • Gunshin, H.1    Mackenzie, B.2    Berger, U.V.3    Gunshin, Y.4    Romero, M.F.5
  • 63
    • 0001537486 scopus 로고
    • Radioactive iron absorption by the gastrointestinal tract: Influence of anemia, anoxia, and antecedent feeding
    • Hahn PF, Bale WF, Ross JF, Balfour WM, Whipple GH. 1943. Radioactive iron absorption by the gastrointestinal tract: influence of anemia, anoxia, and antecedent feeding. J. Exp. Med. 78:169-88
    • (1943) J. Exp. Med. , vol.78 , pp. 169-188
    • Hahn, P.F.1    Bale, W.F.2    Ross, J.F.3    Balfour, W.M.4    Whipple, G.H.5
  • 64
    • 0029118546 scopus 로고
    • The iron-copper connection: The link to ceruloplasmin grows stronger
    • Harris ED. 1995. The iron-copper connection: the link to ceruloplasmin grows stronger. Nutr. Rev. 53:170-73
    • (1995) Nutr. Rev. , vol.53 , pp. 170-173
    • Harris, E.D.1
  • 65
    • 0032875387 scopus 로고    scopus 로고
    • Targeted gene disruption reveals an essential role for ceruloplasmin in cellular iron efflux
    • Harris ZL, Durley AP, Man TK, Gitlin JD. 1999. Targeted gene disruption reveals an essential role for ceruloplasmin in cellular iron efflux. Proc. Natl. Acad. Sci. USA 96:10812-17
    • (1999) Proc. Natl. Acad. Sci. USA , vol.96 , pp. 10812-10817
    • Harris, Z.L.1    Durley, A.P.2    Man, T.K.3    Gitlin, J.D.4
  • 67
    • 0015490260 scopus 로고
    • Marrow transplantation and iron therapy in mouse hereditary microcytic anemia
    • Harrison DE. 1972. Marrow transplantation and iron therapy in mouse hereditary microcytic anemia. Blood 40:893-901
    • (1972) Blood , vol.40 , pp. 893-901
    • Harrison, D.E.1
  • 68
    • 0029993368 scopus 로고    scopus 로고
    • Microcytic anemia with iron malabsorption: An inherited disorder of iron metabolism
    • Hartman KR, Barker JA. 1996. Microcytic anemia with iron malabsorption: an inherited disorder of iron metabolism. Am. J. Hematol 51:269-75
    • (1996) Am. J. Hematol , vol.51 , pp. 269-275
    • Hartman, K.R.1    Barker, J.A.2
  • 69
    • 0013984436 scopus 로고
    • Atransferrinemias
    • Heilmeyer L. 1966. Atransferrinemias. Acta Haematol. 36:40-49
    • (1966) Acta Haematol. , vol.36 , pp. 40-49
    • Heilmeyer, L.1
  • 71
    • 0025241018 scopus 로고
    • Fetal liver disease may precede extrahepatic siderosis in neonatal hemochromatosis
    • Hoogstraten J, de Sa DJ, Knisely AS. 1990. Fetal liver disease may precede extrahepatic siderosis in neonatal hemochromatosis. Gastroenterology 98:1699-701
    • (1990) Gastroenterology , vol.98 , pp. 1699-1701
    • Hoogstraten, J.1    De Sa, D.J.2    Knisely, A.S.3
  • 74
    • 0023282177 scopus 로고
    • Identification of the intermolecular disulfide bonds of the human transferrin receptor and its lipid-attachment site
    • Jing SQ, Trowbridge IS. 1987. Identification of the intermolecular disulfide bonds of the human transferrin receptor and its lipid-attachment site. EMBO J. 6:327-31
    • (1987) EMBO J. , vol.6 , pp. 327-331
    • Jing, S.Q.1    Trowbridge, I.S.2
  • 75
    • 0032149378 scopus 로고    scopus 로고
    • Neonatal hemochromatosis, renal tubular dysgenesis, and hypocalvaria in a neonate
    • Johal JS, Thorp JW, Oyer CE. 1998. Neonatal hemochromatosis, renal tubular dysgenesis, and hypocalvaria in a neonate. Pediatr. Dev. Pathol. 1:433-37
    • (1998) Pediatr. Dev. Pathol. , vol.1 , pp. 433-437
    • Johal, J.S.1    Thorp, J.W.2    Oyer, C.E.3
  • 77
    • 0031710042 scopus 로고    scopus 로고
    • Severe juvenile haemochromatosis (JH) missing HFE gene variants: Implications for a second gene locus leading to iron overload
    • Kaltwasser JP, Gottschalk R, Seidl CH. 1998. Severe juvenile haemochromatosis (JH) missing HFE gene variants: implications for a second gene locus leading to iron overload. Br. J. Haematol. 102:1111-12
    • (1998) Br. J. Haematol. , vol.102 , pp. 1111-1112
    • Kaltwasser, J.P.1    Gottschalk, R.2    Seidl, C.H.3
  • 78
    • 0031755098 scopus 로고    scopus 로고
    • Hereditary juvenile haemochromatosis: A genetically heterogeneous life-threatening iron-storage disease
    • Kelly AL, Rhodes DA, Roland JM, Schofield P, Cox TM. 1998. Hereditary juvenile haemochromatosis: a genetically heterogeneous life-threatening iron-storage disease. Q. J. Med. 91:607-18
    • (1998) Q. J. Med. , vol.91 , pp. 607-618
    • Kelly, A.L.1    Rhodes, D.A.2    Roland, J.M.3    Schofield, P.4    Cox, T.M.5
  • 79
    • 0033565665 scopus 로고    scopus 로고
    • The mitochondrial proteins Atm1p and Nfs1p are essential for biogenesis of cytosolic Fe/S proteins
    • Kispal G, Csere P, Prohl C, Lill R. 1999. The mitochondrial proteins Atm1p and Nfs1p are essential for biogenesis of cytosolic Fe/S proteins. EMBO J. 18:3981-89
    • (1999) EMBO J. , vol.18 , pp. 3981-3989
    • Kispal, G.1    Csere, P.2    Prohl, C.3    Lill, R.4
  • 80
    • 0026619233 scopus 로고
    • Neonatal hemochromatosis
    • Knisely AS. 1992. Neonatal hemochromatosis. Adv. Pediatr. 39:383-403
    • (1992) Adv. Pediatr. , vol.39 , pp. 383-403
    • Knisely, A.S.1
  • 81
    • 0030813487 scopus 로고    scopus 로고
    • Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin
    • Koutnikova H, Campuzano V, Foury F, Dolle P, Cazzalini O, Koenig M. 1997. Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin. Nat. Genet. 16:345-51
    • (1997) Nat. Genet. , vol.16 , pp. 345-351
    • Koutnikova, H.1    Campuzano, V.2    Foury, F.3    Dolle, P.4    Cazzalini, O.5    Koenig, M.6
  • 82
    • 0033199970 scopus 로고    scopus 로고
    • Microvesicular steatosis, hemosiderosis and rapid development of liver cirrhosis in a patient with Pearson's syndrome
    • Krahenbuhl W, Kleinle S, Henz S, Leibundgut K, Liechti S, et al. 1999. Microvesicular steatosis, hemosiderosis and rapid development of liver cirrhosis in a patient with Pearson's syndrome. J. Hepatol. 31:550-55
    • (1999) J. Hepatol. , vol.31 , pp. 550-555
    • Krahenbuhl, W.1    Kleinle, S.2    Henz, S.3    Leibundgut, K.4    Liechti, S.5
  • 83
    • 0021174049 scopus 로고
    • Gene transfer, expression and molecular cloning of the human transferrin receptor gene
    • Kuhn LC, McClelland A, Ruddle FH. 1984. Gene transfer, expression and molecular cloning of the human transferrin receptor gene. Cell 37:95-103
    • (1984) Cell , vol.37 , pp. 95-103
    • Kuhn, L.C.1    McClelland, A.2    Ruddle, F.H.3
  • 85
    • 0032478524 scopus 로고    scopus 로고
    • Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor
    • Lebron JA, Bennett MJ, Vaughn DE, Chirino AJ, Snow PM, et al. 1998. Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor. Cell 93:111-23
    • (1998) Cell , vol.93 , pp. 111-123
    • Lebron, J.A.1    Bennett, M.J.2    Vaughn, D.E.3    Chirino, A.J.4    Snow, P.M.5
  • 86
    • 0032959574 scopus 로고    scopus 로고
    • Transferrin receptor is necessary for development of erythrocytes and the nervous system
    • Levy JE, Jin O, Fujiwara Y, Kuo F, Andrews NC. 1999. Transferrin receptor is necessary for development of erythrocytes and the nervous system. Nat. Genet. 21:396-99
    • (1999) Nat. Genet. , vol.21 , pp. 396-399
    • Levy, J.E.1    Jin, O.2    Fujiwara, Y.3    Kuo, F.4    Andrews, N.C.5
  • 87
    • 0033168767 scopus 로고    scopus 로고
    • The C282Y mutation causing hereditary hemochromatosis does not produce a null allele
    • Levy JE, Montross LK, Cohen DE, Fleming MD, Andrews NC. 1999. The C282Y mutation causing hereditary hemochromatosis does not produce a null allele. Blood 94:9-11
    • (1999) Blood , vol.94 , pp. 9-11
    • Levy, J.E.1    Montross, L.K.2    Cohen, D.E.3    Fleming, M.D.4    Andrews, N.C.5
  • 89
    • 0027537167 scopus 로고
    • Liver transplantation in newborn liver failure: Treatment for neonatal hemochromatosis
    • Lund DP, Lillehei CW, Kevy S, Perez-Atayde A, Mailer E, et al. 1993. Liver transplantation in newborn liver failure: treatment for neonatal hemochromatosis. Transplant. Proc. 25:1068-71
    • (1993) Transplant. Proc. , vol.25 , pp. 1068-1071
    • Lund, D.P.1    Lillehei, C.W.2    Kevy, S.3    Perez-Atayde, A.4    Mailer, E.5
  • 90
    • 0014984114 scopus 로고
    • Intestinal iron-transport defect in the mouse with sex-linked anemia
    • Manis J. 1971. Intestinal iron-transport defect in the mouse with sex-linked anemia. Am. J. Physiol. 220:135-39
    • (1971) Am. J. Physiol. , vol.220 , pp. 135-139
    • Manis, J.1
  • 91
    • 0039642368 scopus 로고
    • Microcytic anemia (mk) has been located close to Ca on chromosome 15
    • McFarland EC, Russell ES. 1975. Microcytic anemia (mk) has been located close to Ca on chromosome 15. Mouse News Lett. 53:35
    • (1975) Mouse News Lett. , vol.53 , pp. 35
    • McFarland, E.C.1    Russell, E.S.2
  • 92
    • 0025402516 scopus 로고
    • Human transferrin receptor internalization is partly dependent upon an aromatic amino acid in the cytoplasmic domain
    • McGraw TE, Maxfield FR. 1990. Human transferrin receptor internalization is partly dependent upon an aromatic amino acid in the cytoplasmic domain. Cell Regul. 1:369-77
    • (1990) Cell Regul. , vol.1 , pp. 369-377
    • McGraw, T.E.1    Maxfield, F.R.2
  • 93
    • 0040828819 scopus 로고    scopus 로고
    • note
    • Deleted in proof
  • 94
    • 0031687548 scopus 로고    scopus 로고
    • Is there a link between African iron overload and the described mutations of the hereditary haemochromatosis gene?
    • McNamara L, MacPhail AP, Gordeuk VR, Hasstedt SJ, Rouault T. 1998. Is there a link between African iron overload and the described mutations of the hereditary haemochromatosis gene? Br. J. Haematol. 102:1176-78
    • (1998) Br. J. Haematol. , vol.102 , pp. 1176-1178
    • McNamara, L.1    Macphail, A.P.2    Gordeuk, V.R.3    Hasstedt, S.J.4    Rouault, T.5
  • 95
    • 0031814935 scopus 로고    scopus 로고
    • Mutation analysis of the HFE gene associated with hereditary hemochromatosis in African Americans
    • Monaghan KG, Rybicki BA, Shurafa M, Feldman GL. 1998. Mutation analysis of the HFE gene associated with hereditary hemochromatosis in African Americans. Am. J. Hematol. 58:213-17
    • (1998) Am. J. Hematol. , vol.58 , pp. 213-217
    • Monaghan, K.G.1    Rybicki, B.A.2    Shurafa, M.3    Feldman, G.L.4
  • 96
    • 0029007765 scopus 로고
    • Hereditary ceruloplasmin deficiency with hemosiderosis: A clinicopathological study of a Japanese family
    • Monta H, Ikeda S, Yamamoto K, Monta S, Yoshida K, et al. 1995. Hereditary ceruloplasmin deficiency with hemosiderosis: a clinicopathological study of a Japanese family. Ann. Neurol. 37:646-56
    • (1995) Ann. Neurol. , vol.37 , pp. 646-656
    • Monta, H.1    Ikeda, S.2    Yamamoto, K.3    Monta, S.4    Yoshida, K.5
  • 99
    • 0033561342 scopus 로고    scopus 로고
    • HFE mutation analysis in 711 hemochromatosis probands: Evidence for S65C implication in mild form of hemochromatosis
    • Mura C, Raguenes O, Ferec C. 1999. HFE mutation analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis. Blood 93:2502-5
    • (1999) Blood , vol.93 , pp. 2502-2505
    • Mura, C.1    Raguenes, O.2    Ferec, C.3
  • 100
    • 0006908742 scopus 로고
    • The inheritance of "mick," a new anemia in the house mouse
    • Nash DJ, Kent E, Dickie MM, Russell ES. 1964. The inheritance of "mick," a new anemia in the house mouse. Am. Zool. 4:404-5
    • (1964) Am. Zool. , vol.4 , pp. 404-405
    • Nash, D.J.1    Kent, E.2    Dickie, M.M.3    Russell, E.S.4
  • 101
    • 0025211404 scopus 로고
    • Mobilization of iron from endocytic vesicles: The effects of acidification and reduction
    • Nunez M-T, Gaete V, Watkins JA, Glass J. 1990. Mobilization of iron from endocytic vesicles: the effects of acidification and reduction. J. Biol. Chem. 265:6688-92
    • (1990) J. Biol. Chem. , vol.265 , pp. 6688-6692
    • Nunez, M.-T.1    Gaete, V.2    Watkins, J.A.3    Glass, J.4
  • 103
    • 0014011598 scopus 로고
    • Kinetic studies of ferrous ion oxidation with crystalline human ferroxidase (ceruloplasmin)
    • Osaki S. 1966. Kinetic studies of ferrous ion oxidation with crystalline human ferroxidase (ceruloplasmin). J. Biol. Chem. 241:5053-59
    • (1966) J. Biol. Chem. , vol.241 , pp. 5053-5059
    • Osaki, S.1
  • 104
    • 0014691028 scopus 로고
    • Mobilization of liver iron by ferroxidase (ceruloplasmin)
    • Osaki S, Johnson DA. 1969. Mobilization of liver iron by ferroxidase (ceruloplasmin). J. Biol. Chem. 244:5757-58
    • (1969) J. Biol. Chem. , vol.244 , pp. 5757-5758
    • Osaki, S.1    Johnson, D.A.2
  • 105
    • 0014027719 scopus 로고
    • The possible significance of the ferrous oxidase activity of ceruloplasmin in normal human serum
    • Osaki S, Johnson DA, Frieden E. 1966. The possible significance of the ferrous oxidase activity of ceruloplasmin in normal human serum. J. Biol. Chem. 241:2746-51
    • (1966) J. Biol. Chem. , vol.241 , pp. 2746-2751
    • Osaki, S.1    Johnson, D.A.2    Frieden, E.3
  • 106
    • 0015217690 scopus 로고
    • The mobilization of iron from the perfused mammalian liver by a serum copper enzyme, ferroxidase I
    • Osaki S, Johnson DA, Frieden E. 1971. The mobilization of iron from the perfused mammalian liver by a serum copper enzyme, ferroxidase I. J. Biol. Chem. 246:3018-23
    • (1971) J. Biol. Chem. , vol.246 , pp. 3018-3023
    • Osaki, S.1    Johnson, D.A.2    Frieden, E.3
  • 107
    • 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, Bacon BR, Zhou XY, et al. 1997. Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis. Proc. Natl. Acad. Sci. USA 94:13198-202
    • (1997) Proc. Natl. Acad. Sci. USA , vol.94 , pp. 13198-13202
    • Parkkila, S.1    Waheed, A.2    Britton, R.S.3    Bacon, B.R.4    Zhou, X.Y.5
  • 109
    • 0033504061 scopus 로고    scopus 로고
    • Ferrokinetics in the syndrome of familial hypoferremic microcytic anemia with iron malabsorption
    • Pearson HA, Lukens JN. 1999. Ferrokinetics in the syndrome of familial hypoferremic microcytic anemia with iron malabsorption. J. Pediatr. Hematol. Oncol. 21:412-17
    • (1999) J. Pediatr. Hematol. Oncol. , vol.21 , pp. 412-417
    • Pearson, H.A.1    Lukens, J.N.2
  • 110
    • 0033517341 scopus 로고    scopus 로고
    • Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene
    • Pietrangelo A, Montosi G, Totaro A, Garuti C, Conte D, et al. 1999. Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene. N. Engl. J. Med. 341:725-32
    • (1999) N. Engl. J. Med. , vol.341 , pp. 725-732
    • Pietrangelo, A.1    Montosi, G.2    Totaro, A.3    Garuti, C.4    Conte, D.5
  • 111
    • 0031733376 scopus 로고    scopus 로고
    • Non-C282Y familial iron overload: Evidence for locus heterogeneity in haemochromatosis
    • Pinson S, Yaouanq J, Jouanolle AM, Turlin B, Plauchu H. 1998. Non-C282Y familial iron overload: evidence for locus heterogeneity in haemochromatosis. J. Med. Genet. 35:954-56
    • (1998) J. Med. Genet. , vol.35 , pp. 954-956
    • Pinson, S.1    Yaouanq, J.2    Jouanolle, A.M.3    Turlin, B.4    Plauchu, H.5
  • 113
    • 0027175629 scopus 로고
    • Regulation of heme biosynthesis: Distinct features in erythroid cells
    • Ponka P, Schulman HM. 1993. Regulation of heme biosynthesis: distinct features in erythroid cells. Stem Cells 11(1):24-35
    • (1993) Stem Cells , vol.11 , Issue.1 , pp. 24-35
    • Ponka, P.1    Schulman, H.M.2
  • 114
    • 0030886381 scopus 로고    scopus 로고
    • Heme oxygenase 1 is required for mammalian iron reutilization
    • Poss KD, Tonegawa S. 1997. Heme oxygenase 1 is required for mammalian iron reutilization. Proc. Natl. Acad. Sci. USA 94:10919-24
    • (1997) Proc. Natl. Acad. Sci. USA , vol.94 , pp. 10919-10924
    • Poss, K.D.1    Tonegawa, S.2
  • 116
    • 0029086987 scopus 로고
    • Characterization and partial purification of a ferrireductase from human duodenal microvillus membranes
    • Reidel H-D, Remus AJ, Fitscher BA, Stremmel W. 1995. Characterization and partial purification of a ferrireductase from human duodenal microvillus membranes. Biochem. J. 309:745-48
    • (1995) Biochem. J. , vol.309 , pp. 745-748
    • Reidel, H.-D.1    Remus, A.J.2    Fitscher, B.A.3    Stremmel, W.4
  • 118
    • 0023648008 scopus 로고
    • Endocytosis of the transform receptor requires the cytoplasmic domain but not its phosphorylation site
    • Rothenberger S, Iacopetta BJ, Kuhn LC. 1987. Endocytosis of the transform receptor requires the cytoplasmic domain but not its phosphorylation site. Cell 49:423-31
    • (1987) Cell , vol.49 , pp. 423-431
    • Rothenberger, S.1    Iacopetta, B.J.2    Kuhn, L.C.3
  • 119
    • 0031253821 scopus 로고    scopus 로고
    • Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia
    • Rotig A, de Lonlay P, Chretien D, Foury F, Koenig M, et al. 1997. Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nat. Genet. 17:215-17
    • (1997) Nat. Genet. , vol.17 , pp. 215-217
    • Rotig, A.1    De Lonlay, P.2    Chretien, D.3    Foury, F.4    Koenig, M.5
  • 120
    • 0033605595 scopus 로고    scopus 로고
    • The hereditary hemochromatosis protein, HFE, specifically regulates transferrin-mediated iron uptake in HeLa cells
    • Roy CN, Penny DM, Feder JN, Enns CA. 1999. The hereditary hemochromatosis protein, HFE, specifically regulates transferrin-mediated iron uptake in HeLa cells. J. Biol. Chem. 274:9022-28
    • (1999) J. Biol. Chem. , vol.274 , pp. 9022-9028
    • Roy, C.N.1    Penny, D.M.2    Feder, J.N.3    Enns, C.A.4
  • 121
    • 0020986138 scopus 로고
    • Isolation of cDNA clones for the human transferrin receptor
    • Schneider C, Kurkinen M, Greaves M. 1983. Isolation of cDNA clones for the human transferrin receptor. EMBO J. 2:2259-63
    • (1983) EMBO J. , vol.2 , pp. 2259-2263
    • Schneider, C.1    Kurkinen, M.2    Greaves, M.3
  • 122
    • 0004241915 scopus 로고
    • London: Oxford Univ. Press. 340 pp.
    • Sheldon JH. 1935. Haemochromatosis. London: Oxford Univ. Press. 340 pp.
    • (1935) Haemochromatosis
    • Sheldon, J.H.1
  • 123
    • 0031616020 scopus 로고    scopus 로고
    • Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia
    • Shimada Y, Okuno S, Kawai A, Shinomiya H, Saito A, et al. 1998. Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia. Hum. Genet. 43:115-22
    • (1998) Hum. Genet. , vol.43 , pp. 115-122
    • Shimada, Y.1    Okuno, S.2    Kawai, A.3    Shinomiya, H.4    Saito, A.5
  • 125
    • 0017158302 scopus 로고
    • Association of HLA-A3 and HLA-B14 antigens with idiopathic haemochromatosis
    • Simon M, Bourel M, Fauchet R, Genetet B. 1976. Association of HLA-A3 and HLA-B14 antigens with idiopathic haemochromatosis. Gut 17:332-34
    • (1976) Gut , vol.17 , pp. 332-334
    • Simon, M.1    Bourel, M.2    Fauchet, R.3    Genetet, B.4
  • 126
    • 0025744263 scopus 로고
    • Binding to cellular receptors results in increased iron release from transferrin at mildly acidic pH
    • Sipe DM, Murphy RF. 1991. Binding to cellular receptors results in increased iron release from transferrin at mildly acidic pH. J. Biol. Chem. 266:8002-7
    • (1991) J. Biol. Chem. , vol.266 , pp. 8002-8007
    • Sipe, D.M.1    Murphy, R.F.2
  • 127
  • 128
    • 16144365391 scopus 로고    scopus 로고
    • Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13
    • Erratum. 1997. Nat. Genet. 16(1): 109
    • Taylor TD, Litt M, Kramer P, Pandolfo M, Angelini L, et al. 1996. Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13. Nat. Genet. 14:479-81. Erratum. 1997. Nat. Genet. 16(1): 109
    • (1996) Nat. Genet. , vol.14 , pp. 479-481
    • Taylor, T.D.1    Litt, M.2    Kramer, P.3    Pandolfo, M.4    Angelini, L.5
  • 129
    • 0023949731 scopus 로고
    • Uptake of iron from transferrin by isolated rat hepatocytes: A redox-mediated plasma membrane process?
    • Thorstensen K, Romslo I. 1988. Uptake of iron from transferrin by isolated rat hepatocytes: a redox-mediated plasma membrane process? J. Biol. Chem. 263:8844-50
    • (1988) J. Biol. Chem. , vol.263 , pp. 8844-8850
    • Thorstensen, K.1    Romslo, I.2
  • 130
    • 0000501141 scopus 로고
    • Glycosurie: Diabete sucre
    • Trousseau A. 1865. Glycosurie: diabete sucre. Clin. Med. Paris 2:663-98
    • (1865) Clin. Med. Paris , vol.2 , pp. 663-698
    • Trousseau, A.1
  • 132
    • 0344508909 scopus 로고
    • Receptormediated endocytosis and the uptake of iron in K562 cells: Identification of a non-lysosomal acidic compartment
    • Van Renswoude J, Bridges KR, Harford JB, Klausner RD. 1982. Receptormediated endocytosis and the uptake of iron in K562 cells: identification of a non-lysosomal acidic compartment. Proc. Natl. Acad. Sci. USA 79:6186-90
    • (1982) Proc. Natl. Acad. Sci. USA , vol.79 , pp. 6186-6190
    • Van Renswoude, J.1    Bridges, K.R.2    Harford, J.B.3    Klausner, R.D.4
  • 133
    • 0031017335 scopus 로고    scopus 로고
    • Tricho-hepatoenteric syndrome: Further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies
    • Verloes A, Lombet J, Lambert Y, Hubert AF, Deprez M, et al. 1997. Tricho-hepatoenteric syndrome: further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies. Am. J. Med. Genet. 68:391-95
    • (1997) Am. J. Med. Genet. , vol.68 , pp. 391-395
    • Verloes, A.1    Lombet, J.2    Lambert, Y.3    Hubert, A.F.4    Deprez, M.5
  • 134
    • 19144363612 scopus 로고    scopus 로고
    • Recurrence of neonatal haemochromatosis in half sibs born of unaffected mothers
    • Verloes A, Temple IK, Hubert AF, Hope P, Gould S, et al. 1996. Recurrence of neonatal haemochromatosis in half sibs born of unaffected mothers. J. Med. Genet. 33:444-49
    • (1996) J. Med. Genet. , vol.33 , pp. 444-449
    • Verloes, A.1    Temple, I.K.2    Hubert, A.F.3    Hope, P.4    Gould, S.5
  • 135
    • 0027262167 scopus 로고
    • Natural resistance to infection with intracellular parasites: Isolation of a candidate for Beg
    • Vidal SM, Malo D, Vogan K, Skamene E, Gros P. 1993. Natural resistance to infection with intracellular parasites: isolation of a candidate for Beg. Cell 73: 469-85
    • (1993) Cell , vol.73 , pp. 469-485
    • Vidal, S.M.1    Malo, D.2    Vogan, K.3    Skamene, E.4    Gros, P.5
  • 137
    • 0032909207 scopus 로고    scopus 로고
    • Hephaestin, a ceruloplasmin homologue implicated in intestinal iron transport, is defective in the sla mouse
    • Vulpe CD, Kuo YM, Murphy TL, Cowley L, Askwith C, et al. 1999. Hephaestin, a ceruloplasmin homologue implicated in intestinal iron transport, is defective in the sla mouse. Nat. Genet. 21:195-99
    • (1999) Nat. Genet. , vol.21 , pp. 195-199
    • Vulpe, C.D.1    Kuo, Y.M.2    Murphy, T.L.3    Cowley, L.4    Askwith, C.5
  • 138
    • 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, et al. 1999. Association of HFE protein with transferrin receptor in crypt enterocytes of human duodenum. Proc. Natl. Acad. Sci. USA 96:1579-84
    • (1999) Proc. Natl. Acad. Sci. USA , vol.96 , pp. 1579-1584
    • Waheed, A.1    Parkkila, S.2    Saarnio, J.3    Fleming, R.E.4    Zhou, X.Y.5
  • 139
    • 0033002960 scopus 로고    scopus 로고
    • A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heterozygote
    • Wallace DF, Dooley JS, Walker AP. 1999. A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heterozygote. Gastroenterology 116:1409-12
    • (1999) Gastroenterology , vol.116 , pp. 1409-1412
    • Wallace, D.F.1    Dooley, J.S.2    Walker, A.P.3
  • 140
    • 0029921128 scopus 로고    scopus 로고
    • The expanding world of trinucleotide repeats
    • Warren ST. 1996. The expanding world of trinucleotide repeats. Science 271:1374-75
    • (1996) Science , vol.271 , pp. 1374-1375
    • Warren, S.T.1
  • 141
    • 0026511418 scopus 로고
    • Iron depletion: A defense against intracellular infection and neoplasia
    • Weinberg ED. 1992. Iron depletion: a defense against intracellular infection and neoplasia. Life Sci. 50:1289-97
    • (1992) Life Sci. , vol.50 , pp. 1289-1297
    • Weinberg, E.D.1
  • 142
    • 0024559526 scopus 로고
    • Perinatal hemochromatosis: Entity or end result?
    • Witzleben CL, Uri A. 1989. Perinatal hemochromatosis: entity or end result? Hum. Pathol. 20:335-40
    • (1989) Hum. Pathol. , vol.20 , pp. 335-340
    • Witzleben, C.L.1    Uri, A.2
  • 144
    • 0032893958 scopus 로고    scopus 로고
    • Oxidative stress causes enhanced endothelial cell injury in human heme oxygenase-1 deficiency
    • Yachie A, Niida Y, Wada T, Igarashi N, Kaneda H, et al. 1999. Oxidative stress causes enhanced endothelial cell injury in human heme oxygenase-1 deficiency. J. Clin. Invest. 103:129-35
    • (1999) J. Clin. Invest. , vol.103 , pp. 129-135
    • Yachie, A.1    Niida, Y.2    Wada, T.3    Igarashi, N.4    Kaneda, H.5
  • 145
    • 0021734410 scopus 로고
    • Segregation of transferrin to a mildly acidic (pH 6.5) para-Golgi compartment in the recycling pathway
    • Yamashiro DJ, Tycko B, Fluss SR, Maxfield FR. 1984. Segregation of transferrin to a mildly acidic (pH 6.5) para-Golgi compartment in the recycling pathway. Cell 37:789-800
    • (1984) Cell , vol.37 , pp. 789-800
    • Yamashiro, D.J.1    Tycko, B.2    Fluss, S.R.3    Maxfield, F.R.4
  • 146
    • 0028895749 scopus 로고
    • A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans
    • Yoshida K, Furihata K, Takeda S, Nakamura A, Yamamoto K, et al. 1995. A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans. Nat. Genet. 9:267-72
    • (1995) Nat. Genet. , vol.9 , pp. 267-272
    • Yoshida, K.1    Furihata, K.2    Takeda, S.3    Nakamura, A.4    Yamamoto, K.5


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