메뉴 건너뛰기




Volumn 82, Issue 1, 1997, Pages 77-84

Hereditary hemochromatosis: Recent advances in molecular genetics and clinical management

Author keywords

Hemochromatosis; Iron overload; Positional cloning

Indexed keywords

IRON; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 1; TRANSFERRIN;

EID: 0031452901     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (24)

References (94)
  • 1
  • 3
    • 0026342071 scopus 로고
    • Iron overload in Africa. Interaction between a gene and dietary iron content
    • Gordeuk V, Mukiibi J, Hasstedt S, et al. Iron overload in Africa. Interaction between a gene and dietary iron content. N Engl J Med 1992; 326:95-100.
    • (1992) N Engl J Med , vol.326 , pp. 95-100
    • Gordeuk, V.1    Mukiibi, J.2    Hasstedt, S.3
  • 5
    • 0028895749 scopus 로고
    • A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans
    • Yoshida K, Furihata K, Takeda S et al. A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans. Nat Genet 1995; 9:267-72.
    • (1995) Nat Genet , vol.9 , pp. 267-272
    • Yoshida, K.1    Furihata, K.2    Takeda, S.3
  • 7
    • 0029089465 scopus 로고
    • Non-HLA-linked hemochromatosis in a Chinese woman
    • Oliver M, Scully L, Guiraudon C, Adams P. Non-HLA-linked hemochromatosis in a Chinese woman. Dig Dis Sci 1995; 40:1589-91.
    • (1995) Dig Dis Sci , vol.40 , pp. 1589-1591
    • Oliver, M.1    Scully, L.2    Guiraudon, C.3    Adams, P.4
  • 8
    • 0025065435 scopus 로고
    • Prevalence of idiopathic hemochromatosis in Italy: Study of 1301 blood donors
    • Velati C, Piperno A, Fargion S, Colombo S, Fiorelli G. Prevalence of idiopathic hemochromatosis in Italy: study of 1301 blood donors. Haematologica 1990; 75:309-12.
    • (1990) Haematologica , vol.75 , pp. 309-312
    • Velati, C.1    Piperno, A.2    Fargion, S.3    Colombo, S.4    Fiorelli, G.5
  • 9
    • 0029156301 scopus 로고
    • Prevalence of heterozygotes for hemochromatosis in the white population of the United States
    • McLaren C, Gordeuk V, Looker A, et al. Prevalence of heterozygotes for hemochromatosis in the white population of the United States. Blood 1995; 86:2021-7.
    • (1995) Blood , vol.86 , pp. 2021-2027
    • McLaren, C.1    Gordeuk, V.2    Looker, A.3
  • 10
  • 11
    • 0026609144 scopus 로고
    • Survival and prognostic factors in 212 Italian patients with genetic hemochromatosis
    • Fargion S, Mandelli C, Piperno A, et al. Survival and prognostic factors in 212 Italian patients with genetic hemochromatosis. Hepatology 1992; 15:655-9.
    • (1992) Hepatology , vol.15 , pp. 655-659
    • Fargion, S.1    Mandelli, C.2    Piperno, A.3
  • 12
    • 0029922316 scopus 로고    scopus 로고
    • Evolving expression of hereditary hemochromatosis
    • Adams P, Valberg L. Evolving expression of hereditary hemochromatosis. Semin Liver Dis 1996;16:47-54.
    • (1996) Semin Liver Dis , vol.16 , pp. 47-54
    • Adams, P.1    Valberg, L.2
  • 13
    • 0019795707 scopus 로고
    • HLA typing in idiopathic hemochromatosis: Distinction between homozygotes and heterozygotes with biochemical expression
    • Bassett M, Halliday J, Powell L. HLA typing in idiopathic hemochromatosis: distinction between homozygotes and heterozygotes with biochemical expression. Hepatology 1981; 1:120-6.
    • (1981) Hepatology , vol.1 , pp. 120-126
    • Bassett, M.1    Halliday, J.2    Powell, L.3
  • 14
    • 0022384864 scopus 로고
    • Iron overload in subjects with beta-thalassemia trait: Role of the hemochromatosis gene
    • Fargion S, Piperno A, Panajotopoulos N, Taddei M, Fiorelli G. Iron overload in subjects with beta-thalassemia trait: role of the hemochromatosis gene. Br J Haematol 1985; 61:487-90.
    • (1985) Br J Haematol , vol.61 , pp. 487-490
    • Fargion, S.1    Piperno, A.2    Panajotopoulos, N.3    Taddei, M.4    Fiorelli, G.5
  • 15
    • 0023036726 scopus 로고
    • Association of hereditary spherocytosis and idiopathic hemochromatosis. A synergistic effect in determining iron overload
    • Fargion S, Cappellini M, Piperno A, Panajotopoulos N, Ronchi G, Fiorelli G. Association of hereditary spherocytosis and idiopathic hemochromatosis. A synergistic effect in determining iron overload. Am J Clin Pathol 1986; 86:645-9.
    • (1986) Am J Clin Pathol , vol.86 , pp. 645-649
    • Fargion, S.1    Cappellini, M.2    Piperno, A.3    Panajotopoulos, N.4    Ronchi, G.5    Fiorelli, G.6
  • 19
    • 0026087634 scopus 로고
    • Cardiac alterations in 36 consecutive patients with idiopathic hemochromatosis: Polygraphic and echocardiographic evaluation
    • Cecchetti G, Binda A, Piperno A, Nador F, Fargion S, Fiorelli G. Cardiac alterations in 36 consecutive patients with idiopathic hemochromatosis: polygraphic and echocardiographic evaluation. Eur Heart J 1991; 12:224-30.
    • (1991) Eur Heart J , vol.12 , pp. 224-230
    • Cecchetti, G.1    Binda, A.2    Piperno, A.3    Nador, F.4    Fargion, S.5    Fiorelli, G.6
  • 20
    • 15844397210 scopus 로고    scopus 로고
    • The ancestral haplotype is associated with a severe phenotype expression in Italian patients
    • in press
    • Piperno A, Arosio C, Fargion S, et al. The ancestral haplotype is associated with a severe phenotype expression in Italian patients. Hepatology 1996; in press.
    • (1996) Hepatology
    • Piperno, A.1    Arosio, C.2    Fargion, S.3
  • 21
    • 0022656390 scopus 로고
    • Value of hepatic iron measurements in early hemochromatosis and determination of the critical level associated with fibrosis
    • Bassett ML, Halliday JW, Powell LW. Value of hepatic iron measurements in early hemochromatosis and determination of the critical level associated with fibrosis. Hepatology 1986; 6:24-9.
    • (1986) Hepatology , vol.6 , pp. 24-29
    • Bassett, M.L.1    Halliday, J.W.2    Powell, L.W.3
  • 22
    • 0025157647 scopus 로고
    • The pathology of iron overload: A free radical-mediated process?
    • Bacon B, Britton R. The pathology of iron overload: a free radical-mediated process? Hepatology 1990; 11:127-37.
    • (1990) Hepatology , vol.11 , pp. 127-137
    • Bacon, B.1    Britton, R.2
  • 24
    • 0027095744 scopus 로고
    • Liver damage in Italian patients with hereditary hemochromatosis is highly influenced by hepatitis B and C virus infection
    • Piperno A, Fargion S, D'Alba R, et al. Liver damage in Italian patients with hereditary hemochromatosis is highly influenced by hepatitis B and C virus infection. J Hepatol 1992; 16:364-8.
    • (1992) J Hepatol , vol.16 , pp. 364-368
    • Piperno, A.1    Fargion, S.2    D'Alba, R.3
  • 25
    • 0026732182 scopus 로고
    • Liver fibrosis in genetic hemochromatosis. Respective roles of iron and non-iron-related factors in 127 homozygous patients
    • Loreal O, Deugnier Y, Moirand R, et al. Liver fibrosis in genetic hemochromatosis. Respective roles of iron and non-iron-related factors in 127 homozygous patients. J Hepatol 1992; 16:122-7.
    • (1992) J Hepatol , vol.16 , pp. 122-127
    • Loreal, O.1    Deugnier, Y.2    Moirand, R.3
  • 26
    • 0026739378 scopus 로고
    • Preclinical hypogonadism in genetic hemochromatosis in the early stage of the disease: Evidence of hypothalamic dysfunction
    • Piperno A, Rivolta M, D'Alba R, et al. Preclinical hypogonadism in genetic hemochromatosis in the early stage of the disease: evidence of hypothalamic dysfunction. J Endocrinol Invest 1992; 15:423-8.
    • (1992) J Endocrinol Invest , vol.15 , pp. 423-428
    • Piperno, A.1    Rivolta, M.2    D'Alba, R.3
  • 27
    • 0016405032 scopus 로고
    • A clinical evaluation of serum ferritin as an index of iron stores
    • Lipschitz D, Cook J, Finch C. A clinical evaluation of serum ferritin as an index of iron stores. N Engl J Med 1974; 290:1213-6.
    • (1974) N Engl J Med , vol.290 , pp. 1213-1216
    • Lipschitz, D.1    Cook, J.2    Finch, C.3
  • 28
    • 0028881134 scopus 로고
    • Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract
    • Beaumont C, Leneuve P, Devaux I, et al. Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract. Nat Genet 1995; 11:444-6.
    • (1995) Nat Genet , vol.11 , pp. 444-446
    • Beaumont, C.1    Leneuve, P.2    Devaux, I.3
  • 29
    • 0029148586 scopus 로고
    • A linkage between hereditary hyperferritinemia not related to iron overload and autosomal dominant congenital cataract
    • Girelli D, Olivieri O, De Franceschi L, Corrocher R, Bergamaschi G, Cazzola M. A linkage between hereditary hyperferritinemia not related to iron overload and autosomal dominant congenital cataract. Br J Haematol 1995; 90:931-4.
    • (1995) Br J Haematol , vol.90 , pp. 931-934
    • Girelli, D.1    Olivieri, O.2    De Franceschi, L.3    Corrocher, R.4    Bergamaschi, G.5    Cazzola, M.6
  • 30
    • 0028788201 scopus 로고    scopus 로고
    • Molecular basis for the recently described hereditary hyperferritinemia-cataract syndrome: A mutation in the iron-responsive element of feritin L-subunit gene (the "Verona mutation")
    • Girelli D, Corrocher R, Bisceglia L, et al. Molecular basis for the recently described hereditary hyperferritinemia-cataract syndrome: a mutation in the iron-responsive element of feritin L-subunit gene (the "Verona mutation"). Blood 1996; 86:4050-3.
    • (1996) Blood , vol.86 , pp. 4050-4053
    • Girelli, D.1    Corrocher, R.2    Bisceglia, L.3
  • 31
    • 4243148233 scopus 로고
    • Unexplained isolated hyperferritinemia: A new entity of non-HLA-A3 linked and overweight-related iron overload?
    • Moirand R, Mortaji A, Loreal O, et al. Unexplained isolated hyperferritinemia: a new entity of non-HLA-A3 linked and overweight-related iron overload? [abstract]. Hepatology 1994; 20: 322A.
    • (1994) Hepatology , vol.20
    • Moirand, R.1    Mortaji, A.2    Loreal, O.3
  • 32
    • 0026601599 scopus 로고
    • Liver pathology in genetic hemochromatosis: A review of 135 homozygous case and their bioclinical correlation
    • Deugnier YM, Loreal O, Turlin B, et al. Liver pathology in genetic hemochromatosis: a review of 135 homozygous case and their bioclinical correlation. Gastroenterology 1992; 102:2050-9.
    • (1992) Gastroenterology , vol.102 , pp. 2050-2059
    • Deugnier, Y.M.1    Loreal, O.2    Turlin, B.3
  • 33
    • 0027508809 scopus 로고
    • Differentiation between heterozygotes and homozygotes in genetic hemochromatosis by means of a histological hepatic iron index: A study of 192 cases
    • Deugnier Y, Turlin B, Powell L, et al. Differentiation between heterozygotes and homozygotes in genetic hemochromatosis by means of a histological hepatic iron index: a study of 192 cases. Hepatology 1993; 17:30-4.
    • (1993) Hepatology , vol.17 , pp. 30-34
    • Deugnier, Y.1    Turlin, B.2    Powell, L.3
  • 34
    • 0026058496 scopus 로고
    • Confirmation of the efficacy of the hepatic iron index in differentiating genetic hemochromatosis from alcoholic liver disease complicated by alcoholic hemosiderosis
    • Sallie R, Reed WD, Shilkin KB. Confirmation of the efficacy of the hepatic iron index in differentiating genetic hemochromatosis from alcoholic liver disease complicated by alcoholic hemosiderosis. Gut 1991; 32:207-10.
    • (1991) Gut , vol.32 , pp. 207-210
    • Sallie, R.1    Reed, W.D.2    Shilkin, K.B.3
  • 35
    • 0026699129 scopus 로고
    • Saturability of hepatic iron deposits in genetic hemochromatosis
    • Mandelli C, Cesarini L, Piperno A, et al. Saturability of hepatic iron deposits in genetic hemochromatosis. Hepatology 1992; 16:956-9.
    • (1992) Hepatology , vol.16 , pp. 956-959
    • Mandelli, C.1    Cesarini, L.2    Piperno, A.3
  • 36
    • 0023731825 scopus 로고
    • Noninvasive methods for the early detection of hereditary hemochromatosis
    • Brittenham G. Noninvasive methods for the early detection of hereditary hemochromatosis. Ann NY Acad Sci 1988; 589:209-23.
    • (1988) Ann NY Acad Sci , vol.589 , pp. 209-223
    • Brittenham, G.1
  • 37
    • 0026783157 scopus 로고
    • Magnetic resonance imaging and assessment of liver iron content in genetic hemochromatosis
    • Guyader D, Gandon Y, Robert J-Y, et al. Magnetic resonance imaging and assessment of liver iron content in genetic hemochromatosis. J Hepatol 1992; 15:304-8.
    • (1992) J Hepatol , vol.15 , pp. 304-308
    • Guyader, D.1    Gandon, Y.2    Robert, J.-Y.3
  • 38
    • 0029363067 scopus 로고
    • Iron overload in thalassemia: Comparative analysis of magnetic resonance imaging, serum ferritin and iron content of the liver
    • Mazza P, Giua R, De Marco S, et al. Iron overload in thalassemia: comparative analysis of magnetic resonance imaging, serum ferritin and iron content of the liver. Haematologica 1995; 80:398-404.
    • (1995) Haematologica , vol.80 , pp. 398-404
    • Mazza, P.1    Giua, R.2    De Marco, S.3
  • 39
    • 0017158302 scopus 로고
    • Association of HLA-A3 and HLA-B14 antigens with idiopathic hemochromatosis
    • Simon M, Bourel M, Fauchet R, Genetet B. Association of HLA-A3 and HLA-B14 antigens with idiopathic hemochromatosis. Gut 1976; 17:332-4.
    • (1976) Gut , vol.17 , pp. 332-334
    • Simon, M.1    Bourel, M.2    Fauchet, R.3    Genetet, B.4
  • 40
    • 0023200271 scopus 로고
    • A study of 609 haplotypes marking for the hemochromatosis gene: 1 mapping of the gene near the HLA-A locus and characters required to define a heterozygous population and 2 hypothesis concerning the underlying ause of hemochromatosis-HLA association
    • Simon M, Le Mignon L, Fauchet R, et al. A study of 609 haplotypes marking for the hemochromatosis gene: 1) mapping of the gene near the HLA-A locus and characters required to define a heterozygous population and 2) hypothesis concerning the underlying ause of hemochromatosis-HLA association. Am J Hum Genet 1987; 41:89-105.
    • (1987) Am J Hum Genet , vol.41 , pp. 89-105
    • Simon, M.1    Le Mignon, L.2    Fauchet, R.3
  • 41
    • 0344735856 scopus 로고
    • Assignment of the major histocompatibility complex to a region of the short arm of chromosome
    • Francke U, Pellegrino M. Assignment of the major histocompatibility complex to a region of the short arm of chromosome. Proc Natl Acad Sci USA 1977; 74:147-51.
    • (1977) Proc Natl Acad Sci USA , vol.74 , pp. 147-151
    • Francke, U.1    Pellegrino, M.2
  • 43
    • 0026849567 scopus 로고
    • Positional cloning: Let's not call it reverse anymore
    • Collins F. Positional cloning: let's not call it reverse anymore. Nat Genet 1992; 1:3-6.
    • (1992) Nat Genet , vol.1 , pp. 3-6
    • Collins, F.1
  • 44
    • 0025233964 scopus 로고
    • Expression of haemochromatosis in homozygous subjects: Implications for early diagnosis and prevention
    • Powell L, Summers K, Board P, Axelsen E, Webb S, Halliday J. Expression of haemochromatosis in homozygous subjects: implications for early diagnosis and prevention. Gastroenterology 1990; 98:1625-32.
    • (1990) Gastroenterology , vol.98 , pp. 1625-1632
    • Powell, L.1    Summers, K.2    Board, P.3    Axelsen, E.4    Webb, S.5    Halliday, J.6
  • 45
    • 0024576598 scopus 로고
    • Ferritin H gene polymorphism in idiopathic hemochromatosis
    • David V, Papadopoulos P, Yaouanq J, et al. Ferritin H gene polymorphism in idiopathic hemochromatosis. Hum Genet 1989; 81:123-6.
    • (1989) Hum Genet , vol.81 , pp. 123-126
    • David, V.1    Papadopoulos, P.2    Yaouanq, J.3
  • 46
    • 0027159742 scopus 로고
    • Linkage analysis of 6p21 polymorphic markers and the hereditary hemochromatosis: Localization of the gene centromeric to HLA-F
    • Gasparini P, Borgato L, Piperno A, et al. Linkage analysis of 6p21 polymorphic markers and the hereditary hemochromatosis: localization of the gene centromeric to HLA-F. Hum Mol Genet 1993; 2:571-6.
    • (1993) Hum Mol Genet , vol.2 , pp. 571-576
    • Gasparini, P.1    Borgato, L.2    Piperno, A.3
  • 47
    • 0028013203 scopus 로고
    • Anonymous marker loci within 400 Kb of HLA-A generate haplotypes in linkage disequilibrium with the hemochromatosis gene (HFE)
    • Yaouanq J, Perichon M, Chorney M, et al. Anonymous marker loci within 400 Kb of HLA-A generate haplotypes in linkage disequilibrium with the hemochromatosis gene (HFE). Am J Hum Genet 1994; 54:252-63.
    • (1994) Am J Hum Genet , vol.54 , pp. 252-263
    • Yaouanq, J.1    Perichon, M.2    Chorney, M.3
  • 48
    • 0027403573 scopus 로고
    • Localization of seven new genes around the HLA-A locus
    • El Kahloun A, Chauvet B, Mauvieux V, et al. Localization of seven new genes around the HLA-A locus. Hum Mol Genet 1993; 2:55-60.
    • (1993) Hum Mol Genet , vol.2 , pp. 55-60
    • El Kahloun, A.1    Chauvet, B.2    Mauvieux, V.3
  • 49
    • 0028012605 scopus 로고
    • Isolation of novel non-HLA-gene fragments from the hemochromatosis region (6p21.3) by cDNA hybridization selection
    • Goei V, Parimoo S, Capossela A, Chu T, Gruen J. Isolation of novel non-HLA-gene fragments from the hemochromatosis region (6p21.3) by cDNA hybridization selection. Am J Hum Genet 1994; 54:244-51.
    • (1994) Am J Hum Genet , vol.54 , pp. 244-251
    • Goei, V.1    Parimoo, S.2    Capossela, A.3    Chu, T.4    Gruen, J.5
  • 50
    • 0027144077 scopus 로고
    • Genes in one megabase of the HLA class I region
    • Wei H, Fan W, Xu H, et al. Genes in one megabase of the HLA class I region. Proc Natl Acad Sci USA 1993; 90:11870-4.
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 11870-11874
    • Wei, H.1    Fan, W.2    Xu, H.3
  • 51
    • 19244376894 scopus 로고    scopus 로고
    • Hereditary hemochromatosis: Generation of a transcription map within a refined and extended map of HLA class I region
    • Totaro A, Rommens J, Grifa A, et al. Hereditary hemochromatosis: generation of a transcription map within a refined and extended map of HLA class I region. Genomics 1996; 31:319-26.
    • (1996) Genomics , vol.31 , pp. 319-326
    • Totaro, A.1    Rommens, J.2    Grifa, A.3
  • 52
    • 0028231090 scopus 로고
    • The 1993-1994 Genethon human genetic linkage map
    • Gyapay G, Morisette J, Vignal A, et al. The 1993-1994 Genethon human genetic linkage map. Nature Genet 1994; 7:246-339.
    • (1994) Nature Genet , vol.7 , pp. 246-339
    • Gyapay, G.1    Morisette, J.2    Vignal, A.3
  • 56
    • 0028805511 scopus 로고
    • New polymorphic microsatellite markers place the hemochromatosis gene telomerically to D6S105
    • Raha-Chowdury R, Bowen D, Stone C, et al. New polymorphic microsatellite markers place the hemochromatosis gene telomerically to D6S105. Hum Mol Genet 1995; 4:1869-74.
    • (1995) Hum Mol Genet , vol.4 , pp. 1869-1874
    • Raha-Chowdury, R.1    Bowen, D.2    Stone, C.3
  • 57
    • 0029987959 scopus 로고    scopus 로고
    • Allelic association of microsatellites of 6p in Italian hemochromatosis patients
    • Camaschella C, Roetto A, Gasparini P, et al. Allelic association of microsatellites of 6p in Italian hemochromatosis patients. Hum Genet 1996; 97:476-81.
    • (1996) Hum Genet , vol.97 , pp. 476-481
    • Camaschella, C.1    Roetto, A.2    Gasparini, P.3
  • 58
    • 0030045484 scopus 로고    scopus 로고
    • Linkage disequilibrium and extended haplotypes in the HLA-A to D6S105 region: Implications for mapping the hemochromatosis gene (HFE)
    • Gandon G, Jouanolle A, Chauvel B, et al. Linkage disequilibrium and extended haplotypes in the HLA-A to D6S105 region: implications for mapping the hemochromatosis gene (HFE). Hum Genet 1996; 97:103-13.
    • (1996) Hum Genet , vol.97 , pp. 103-113
    • Gandon, G.1    Jouanolle, A.2    Chauvel, B.3
  • 59
    • 0028102790 scopus 로고
    • Isolation of CA dinucleotide repeats close to D6S105; linkage disequilibrium with haemochromatosis
    • Stone C, Pointon J, Jazwinska E, et al. Isolation of CA dinucleotide repeats close to D6S105; linkage disequilibrium with haemochromatosis. Hum Mol Genet 1994; 3:2043-6.
    • (1994) Hum Mol Genet , vol.3 , pp. 2043-2046
    • Stone, C.1    Pointon, J.2    Jazwinska, E.3
  • 60
    • 0029985519 scopus 로고    scopus 로고
    • A 4.5 Megabase YAC contig and physical mapping over the hemochromatosis region
    • Burt M, Smit D, Pyper W, Powell L, Jazwinska E. A 4.5 Megabase YAC contig and physical mapping over the hemochromatosis region. Genomics 1996; 33:153-8.
    • (1996) Genomics , vol.33 , pp. 153-158
    • Burt, M.1    Smit, D.2    Pyper, W.3    Powell, L.4    Jazwinska, E.5
  • 61
    • 0030587408 scopus 로고    scopus 로고
    • Construction of a YAC contig covering human chromosome 6p22
    • in press
    • Malaspina P, Roetto A, Trettel F, et al. Construction of a YAC contig covering human chromosome 6p22. Genomics 1996; in press.
    • (1996) Genomics
    • Malaspina, P.1    Roetto, A.2    Trettel, F.3
  • 62
    • 9344224529 scopus 로고    scopus 로고
    • A novel MHC class I-like gene is mutated in patients with hereditary hemochromatosis
    • Feder JN, Gnirke A, Thomas W, et al. A novel MHC class I-like gene is mutated in patients with hereditary hemochromatosis. Nat Genet 1996; 13:399-408.
    • (1996) Nat Genet , vol.13 , pp. 399-408
    • Feder, J.N.1    Gnirke, A.2    Thomas, W.3
  • 63
    • 0030221927 scopus 로고    scopus 로고
    • Mutation analysis in hereditary hemochromatosis
    • Beutler E, Gelbart T, West C, et al. Mutation analysis in hereditary hemochromatosis. Blood Cells Mol Dis 1996; 22:187-94.
    • (1996) Blood Cells Mol Dis , vol.22 , pp. 187-194
    • Beutler, E.1    Gelbart, T.2    West, C.3
  • 64
    • 16944363480 scopus 로고    scopus 로고
    • Mutation analysis of HLA-Italian hemochromatosis patients
    • in press
    • Carella M, D'Ambrosio L, Totaro A, et al. Mutation analysis of HLA-Italian hemochromatosis patients. Am J Hum Genet 1997; in press.
    • (1997) Am J Hum Genet
    • Carella, M.1    D'Ambrosio, L.2    Totaro, A.3
  • 65
    • 0030055635 scopus 로고    scopus 로고
    • Strike while the iron is hot
    • Cox T. Strike while the iron is hot. Nat Genet 1996; 13:386-8.
    • (1996) Nat Genet , vol.13 , pp. 386-388
    • Cox, T.1
  • 66
    • 0029766094 scopus 로고    scopus 로고
    • Woman's meat, a man's poison
    • Little P. Woman's meat, a man's poison. Nature 1996; 382:494-5.
    • (1996) Nature , vol.382 , pp. 494-495
    • Little, P.1
  • 67
    • 0028878293 scopus 로고
    • Haplotype analysts in Australian hemochromatosis patients: Evidence for a predominant ancestral haplotype exclusively associated with hemochromatosis
    • Jazwinska EC, Pyper W, Burt M, et al. Haplotype analysts in Australian hemochromatosis patients: evidence for a predominant ancestral haplotype exclusively associated with hemochromatosis. Am J Hum Genet 1995; 56:428-33.
    • (1995) Am J Hum Genet , vol.56 , pp. 428-433
    • Jazwinska, E.C.1    Pyper, W.2    Burt, M.3
  • 68
    • 0027292096 scopus 로고
    • Haplotype analysis to determine the position of a mutation among closely linked DNA markers
    • Ramsay M, Williamson R, Estivill X, et al. Haplotype analysis to determine the position of a mutation among closely linked DNA markers. Hum Mol Genet 1993; 2:1007-14.
    • (1993) Hum Mol Genet , vol.2 , pp. 1007-1014
    • Ramsay, M.1    Williamson, R.2    Estivill, X.3
  • 69
    • 0029078117 scopus 로고
    • Evidence that the ancestral haplotype in Australian hemochromatosis patients may be associated with a common mutation in the gene
    • Crawford D, Powell L, Leggett B, et al. Evidence that the ancestral haplotype in Australian hemochromatosis patients may be associated with a common mutation in the gene. Am J Hum Genet 1995; 57:362-7.
    • (1995) Am J Hum Genet , vol.57 , pp. 362-367
    • Crawford, D.1    Powell, L.2    Leggett, B.3
  • 70
    • 0027232739 scopus 로고
    • Concordance of iron storage in siblings with genetic hemochromatosis: Evidence for a predominantly genetic effect on iron storage
    • Crawford D, Halliday JW, Summers KM, Bourke MJ, Powell LW. Concordance of iron storage in siblings with genetic hemochromatosis: evidence for a predominantly genetic effect on iron storage. Hepatology 1993; 17:833-7.
    • (1993) Hepatology , vol.17 , pp. 833-837
    • Crawford, D.1    Halliday, J.W.2    Summers, K.M.3    Bourke, M.J.4    Powell, L.W.5
  • 71
    • 0021346479 scopus 로고
    • Evidence for heterogeneity in hereditary hemochromatosis. Evaluation of 174 persons in nine families
    • Muir AW, McLaren GD, Braun W, Askari A. Evidence for heterogeneity in hereditary hemochromatosis. Evaluation of 174 persons in nine families. Am J Med 1984; 76:806-14.,
    • (1984) Am J Med , vol.76 , pp. 806-814
    • Muir, A.W.1    McLaren, G.D.2    Braun, W.3    Askari, A.4
  • 74
    • 0028888545 scopus 로고
    • Duodenal ferritin synthesis in genetic hemochromatosis
    • Pietrangelo A, Casalgrandi G, Quaglino D, et al. Duodenal ferritin synthesis in genetic hemochromatosis. Gastroenterology 1995; 108:208-17.
    • (1995) Gastroenterology , vol.108 , pp. 208-217
    • Pietrangelo, A.1    Casalgrandi, G.2    Quaglino, D.3
  • 75
    • 0024578682 scopus 로고
    • Ferritin release by mononuclear cells in hereditary hemochromatosis
    • Flanagan P, Lam D, Banerjee D, Valberg L. Ferritin release by mononuclear cells in hereditary hemochromatosis. J Lab Clin Med 1989; 113:145-50.
    • (1989) J Lab Clin Med , vol.113 , pp. 145-150
    • Flanagan, P.1    Lam, D.2    Banerjee, D.3    Valberg, L.4
  • 76
    • 0027080655 scopus 로고
    • Does transplantation of the liver cure genetic hemochromatosis?
    • Powell L. Does transplantation of the liver cure genetic hemochromatosis? J Hepatol 1992; 16:259-61.
    • (1992) J Hepatol , vol.16 , pp. 259-261
    • Powell, L.1
  • 77
    • 0021327659 scopus 로고
    • Interaction between major histocompatibility complex antigens and epidermal growth factor receptors on human cells
    • Schreiber AB, Schlessinger J, Edidin M. Interaction between major histocompatibility complex antigens and epidermal growth factor receptors on human cells. J Cell Biol 1984; 98:725-31.
    • (1984) J Cell Biol , vol.98 , pp. 725-731
    • Schreiber, A.B.1    Schlessinger, J.2    Edidin, M.3
  • 78
    • 0024378113 scopus 로고
    • Specific molecular interaction between the insulin receptor and a D product of MHC class I
    • Verland S, Simonsen M, Gammeltoft S, Allen H, Flavell RA, Olsson L Specific molecular interaction between the insulin receptor and a D product of MHC class I. J Immunol 1989; 143:945-51.
    • (1989) J Immunol , vol.143 , pp. 945-951
    • Verland, S.1    Simonsen, M.2    Gammeltoft, S.3    Allen, H.4    Flavell, R.A.5    Olsson, L.6
  • 79
    • 0029670047 scopus 로고    scopus 로고
    • β2 knockout mice develop parenchymal iron overload: A putative role for class I genes of the major histocompatibility complex in iron metabolism
    • Rothenberg BE, Voland JR. β2 knockout mice develop parenchymal iron overload: a putative role for class I genes of the major histocompatibility complex in iron metabolism. Proc Natl Acad Sci USA 1996; 93:1529-34.
    • (1996) Proc Natl Acad Sci USA , vol.93 , pp. 1529-1534
    • Rothenberg, B.E.1    Voland, J.R.2
  • 81
    • 0029029626 scopus 로고
    • Screening blood donors for hereditary hemochromacosis: Decision analysts model based on a 30-year database
    • Adams PC, Gregor JC, Kertesz AE, Valberg LS. Screening blood donors for hereditary hemochromacosis: decision analysts model based on a 30-year database. Gastroenterology 1995; 109:177-88.
    • (1995) Gastroenterology , vol.109 , pp. 177-188
    • Adams, P.C.1    Gregor, J.C.2    Kertesz, A.E.3    Valberg, L.S.4
  • 82
    • 0027319493 scopus 로고
    • Current concept: Screening for hemochromatosis
    • Edwards CQ, Kushner JP. Current concept: screening for hemochromatosis. N Engl J Med 1993; 328:1616-20.
    • (1993) N Engl J Med , vol.328 , pp. 1616-1620
    • Edwards, C.Q.1    Kushner, J.P.2
  • 83
    • 0026079609 scopus 로고
    • Iron status markers in hereditary hemochromatosis: Distinction between individuals being homozygous and heterozygous for the hemochromatosis allele
    • Milman N. Iron status markers in hereditary hemochromatosis: distinction between individuals being homozygous and heterozygous for the hemochromatosis allele. Eur J Haematol 1991; 47:292-8.
    • (1991) Eur J Haematol , vol.47 , pp. 292-298
    • Milman, N.1
  • 84
    • 0029118257 scopus 로고
    • Portal hypertension and iron depletion in patients with genetic hemochromatosis
    • Fracanzani A, Fargion S, Romano R, et al. Portal hypertension and iron depletion in patients with genetic hemochromatosis. Hepatology 1995; 22:1127-31.
    • (1995) Hepatology , vol.22 , pp. 1127-1131
    • Fracanzani, A.1    Fargion, S.2    Romano, R.3
  • 85
    • 0028898064 scopus 로고
    • Iron-chelation therapy with oral deferiprone in patients with thalassemia major
    • Olivieri N, Brittenham G, Matsui D, et al. Iron-chelation therapy with oral deferiprone in patients with thalassemia major. N Engl J Med 1995; 332:918-22.
    • (1995) N Engl J Med , vol.332 , pp. 918-922
    • Olivieri, N.1    Brittenham, G.2    Matsui, D.3
  • 86
    • 0027989911 scopus 로고
    • Outcome of liver transplantation in patients with hemochromatosis
    • Farrel F, Nguyen M, Woodley S, et al. Outcome of liver transplantation in patients with hemochromatosis. Hepatology 1994; 20:404-10.
    • (1994) Hepatology , vol.20 , pp. 404-410
    • Farrel, F.1    Nguyen, M.2    Woodley, S.3
  • 87
    • 0027458066 scopus 로고
    • An analysis of liver transplant experience from 37 transplant centers as reported to Medicare
    • Kilpe V, Krakauer H, Wren R. An analysis of liver transplant experience from 37 transplant centers as reported to Medicare. Transplantation 1993; 56:554-61.
    • (1993) Transplantation , vol.56 , pp. 554-561
    • Kilpe, V.1    Krakauer, H.2    Wren, R.3
  • 88
    • 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, et al. The Fet3 gene of S. cerevisiae encodes a multicopper oxidase required for ferrous iron uptake. Cell 1994; 76:403-10.
    • (1994) Cell , vol.76 , pp. 403-410
    • Askwith, C.1    Eide, D.2    Van Ho, A.3
  • 89
    • 0028010889 scopus 로고
    • Molecular characterization of a copper transport protein in S. cerevisiae: An unexpected role for copper in iron transport
    • Dancis A, Yuan DS, Haile D, et al. Molecular characterization of a copper transport protein in S. cerevisiae: an unexpected role for copper in iron transport. Cell 1994; 76:393-402.
    • (1994) Cell , vol.76 , pp. 393-402
    • Dancis, A.1    Yuan, D.S.2    Haile, D.3
  • 90
    • 0029921680 scopus 로고    scopus 로고
    • A mermease-oxidase complex involved in high affinity iron uptake in yeast
    • Stearman R, Yuan DS, Yamaguchi-Iwai Y, Klausner RD, Dancis A. A mermease-oxidase complex involved in high affinity iron uptake in yeast. Science 1996; 271:1552-7.
    • (1996) Science , vol.271 , pp. 1552-1557
    • Stearman, R.1    Yuan, D.S.2    Yamaguchi-Iwai, Y.3    Klausner, R.D.4    Dancis, A.5
  • 92
    • 0028916909 scopus 로고
    • The Menkes/Wilson disease gene homologue in yeast provides copper to a ceruloplasmin-like oxidase required for iron uptake
    • Yuan DS, Stearman R, Dancis A, Dunn T, Beeler T, Klausner RD. The Menkes/Wilson disease gene homologue in yeast provides copper to a ceruloplasmin-like oxidase required for iron uptake. Proc Natl Acad Sci USA 1995; 92:2632-6.
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 2632-2636
    • Yuan, D.S.1    Stearman, R.2    Dancis, A.3    Dunn, T.4    Beeler, T.5    Klausner, R.D.6
  • 93
    • 0021014865 scopus 로고
    • Juvenile idiopathic haemochromatosis: A life-threatening disorder presenting as hypogonadotropic hypogonadism
    • Cazzola M, Ascari E, Barosi G, et al. Juvenile idiopathic haemochromatosis: a life-threatening disorder presenting as hypogonadotropic hypogonadism. Hum Genet 1983; 65:149-54.
    • (1983) Hum Genet , vol.65 , pp. 149-154
    • Cazzola, M.1    Ascari, E.2    Barosi, G.3
  • 94
    • 0029092104 scopus 로고
    • Successful pregnancy following gonadotropin therapy in a young female with juvenile idiopathic hemochromatosis and secondary hypogonadotropic hypogonadism
    • Farina G, Pedrotti C, Cerani P, et al. Successful pregnancy following gonadotropin therapy in a young female with juvenile idiopathic hemochromatosis and secondary hypogonadotropic hypogonadism. Haematologica 1995; 80:335-7.
    • (1995) Haematologica , vol.80 , pp. 335-337
    • Farina, G.1    Pedrotti, C.2    Cerani, P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.