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Volumn 62, Issue 9, 2012, Pages 612-618

Clinicopathological study of Japanese patients with genetic iron overload syndromes

Author keywords

Aceruloplasminemia; Ferroportin; Hemochromatosis; Hepcidin

Indexed keywords

FERROPORTIN; HEPCIDIN;

EID: 84865536442     PISSN: 13205463     EISSN: 14401827     Source Type: Journal    
DOI: 10.1111/j.1440-1827.2012.02848.x     Document Type: Article
Times cited : (24)

References (31)
  • 1
    • 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 etal. 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
  • 2
    • 0030221927 scopus 로고    scopus 로고
    • Mutation analysis in hereditary hemochromatosis
    • Beutler E, Gelbart T, West C etal. Mutation analysis in hereditary hemochromatosis. Blood Cell Mol Dis 1996; 22: 187-94.
    • (1996) Blood Cell Mol Dis , vol.22 , pp. 187-194
    • Beutler, E.1    Gelbart, T.2    West, C.3
  • 4
    • 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 etal. 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
  • 5
    • 20244388240 scopus 로고    scopus 로고
    • Mutant antimicrobial hepcidin is associated with severe juvenile hemochromatosis
    • Roetto A, Papanikolaou G, Politou M etal. Mutant antimicrobial 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
  • 6
    • 9144252017 scopus 로고    scopus 로고
    • Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis
    • Papanikolaou G, Samuels ME, Ludwig EH etal. 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
  • 7
    • 0043170776 scopus 로고    scopus 로고
    • AVAQ 594-597 deletion of the TfR2 gene in a Japanese family with hemochromatosis
    • Hattori A, Wakusawa S, Hayashi H etal. AVAQ 594-597 deletion of the TfR2 gene in a Japanese family with hemochromatosis. Hepatol Res 2003; 26: 154-6.
    • (2003) Hepatol Res , vol.26 , pp. 154-156
    • Hattori, A.1    Wakusawa, S.2    Hayashi, H.3
  • 8
    • 24344497919 scopus 로고    scopus 로고
    • Three patients with middle-age-onset hemochromatosis caused by novel mutations in the hemojuvelin gene
    • Koyama C, Hayashi H, Wakusawa S etal. Three patients with middle-age-onset hemochromatosis caused by novel mutations in the hemojuvelin gene. J Hepatol 2005; 43: 740-2.
    • (2005) J Hepatol , vol.43 , pp. 740-742
    • Koyama, C.1    Hayashi, H.2    Wakusawa, S.3
  • 9
    • 0037460697 scopus 로고    scopus 로고
    • Disrupted hepcidin regulation in HFE-associated haemochromatosis and the liver as a regulator of body iron hemeostasis
    • Bridle KR, Frazer DM, Wilkins SJ etal. Disrupted hepcidin regulation in HFE-associated haemochromatosis and the liver as a regulator of body iron hemeostasis. Lancet 2003; 361: 669-73.
    • (2003) Lancet , vol.361 , pp. 669-673
    • Bridle, K.R.1    Frazer, D.M.2    Wilkins, S.J.3
  • 11
    • 0034930197 scopus 로고    scopus 로고
    • A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
    • Njajou OT, Vaessen N, Joosse M etal. 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
  • 12
    • 78651265056 scopus 로고    scopus 로고
    • Measurement of serum hepcidin-25 levels as a potential test for diagnosing hemochromatosis and related disorders
    • Kaneko Y, Miyajima H, Piperno A etal. Measurement of serum hepcidin-25 levels as a potential test for diagnosing hemochromatosis and related disorders. J Gastroenterol 2010; 45: 1163-71.
    • (2010) J Gastroenterol , vol.45 , pp. 1163-1171
    • Kaneko, Y.1    Miyajima, H.2    Piperno, A.3
  • 13
    • 23044508432 scopus 로고    scopus 로고
    • Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin
    • Drakesmith H, Schimanski LM, Ormerod E etal. Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin. Blood 2005; 106: 1092-7.
    • (2005) Blood , vol.106 , pp. 1092-1097
    • Drakesmith, H.1    Schimanski, L.M.2    Ormerod, E.3
  • 14
    • 70349904431 scopus 로고    scopus 로고
    • A novel missense mutation in SLC40A1 results in resistance to hepcidin and confirms the existence of two ferroportin-associated iron overload diseases
    • Letocart E, Le Gac G, Majore S etal. A novel missense mutation in SLC40A1 results in resistance to hepcidin and confirms the existence of two ferroportin-associated iron overload diseases. Br J Haematol 2009; 147: 379-85.
    • (2009) Br J Haematol , vol.147 , pp. 379-385
    • Letocart, E.1    Le Gac, G.2    Majore, S.3
  • 15
    • 0023240051 scopus 로고
    • Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration
    • Miyajima H, Nishimura Y, Mizoguchi K, Sakamoto M, Shimizu T, Honda N. Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration. Neurology 1987; 37: 761-7.
    • (1987) Neurology , vol.37 , pp. 761-767
    • Miyajima, H.1    Nishimura, Y.2    Mizoguchi, K.3    Sakamoto, M.4    Shimizu, T.5    Honda, N.6
  • 16
    • 37649012006 scopus 로고    scopus 로고
    • Simple and sensitive quantification of bioactive peptides in biological matrices using liquid chromatography/selected reaction monitoring mass spectrometry coupled with trichloroacetic acid clean-up
    • Murao N, Ishigai M, Yasuno H, Shimonaka Y, Aso Y. Simple and sensitive quantification of bioactive peptides in biological matrices using liquid chromatography/selected reaction monitoring mass spectrometry coupled with trichloroacetic acid clean-up. Rapid Commun Mass Spectrom 2007; 21: 4033-8.
    • (2007) Rapid Commun Mass Spectrom , vol.21 , pp. 4033-4038
    • Murao, N.1    Ishigai, M.2    Yasuno, H.3    Shimonaka, Y.4    Aso, Y.5
  • 17
    • 0029039362 scopus 로고
    • Histological grading and staging of chronic hepatitis
    • Ishak K, Baptista A, Bianchi L etal. Histological grading and staging of chronic hepatitis. J Hepatol 1995; 22: 696-9.
    • (1995) J Hepatol , vol.22 , pp. 696-699
    • Ishak, K.1    Baptista, A.2    Bianchi, L.3
  • 18
    • 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 YM, Turlin B, Powell LW etal. 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.M.1    Turlin, B.2    Powell, L.W.3
  • 19
    • 0034016182 scopus 로고    scopus 로고
    • A Japanese case of idiopathic hemochromatosis with analysis of HFE gene mutations and a review of literature on HLA phenotypes in the Japanese cases [in Japanese]
    • Fujita J, Inagaki Y, Yonei Y etal. A Japanese case of idiopathic hemochromatosis with analysis of HFE gene mutations and a review of literature on HLA phenotypes in the Japanese cases [in Japanese]. Nippon Shokakibyo Gakkai Zasshi 2000; 97: 472-7.
    • (2000) Nippon Shokakibyo Gakkai Zasshi , vol.97 , pp. 472-477
    • Fujita, J.1    Inagaki, Y.2    Yonei, Y.3
  • 20
    • 0035007492 scopus 로고    scopus 로고
    • Hereditary hemochromatosis not associated with common HFE gene mutation in Japanese siblings
    • Hachiya M, Watanabe H, Tsukimoto I, Fujisawa T. Hereditary hemochromatosis not associated with common HFE gene mutation in Japanese siblings. J Pediatr Gastroenterol Nutr 2001; 32: 501-3.
    • (2001) J Pediatr Gastroenterol Nutr , vol.32 , pp. 501-503
    • Hachiya, M.1    Watanabe, H.2    Tsukimoto, I.3    Fujisawa, T.4
  • 21
    • 20144381350 scopus 로고    scopus 로고
    • Two novel mutations, L490R and V561X, in the transferrin receptor 2 in Japanese patients with hemochromatosis
    • Koyama C, Wakusawa S, Hayashi H etal. Two novel mutations, L490R and V561X, in the transferrin receptor 2 in Japanese patients with hemochromatosis. Haematologica 2005; 90: 302-7.
    • (2005) Haematologica , vol.90 , pp. 302-307
    • Koyama, C.1    Wakusawa, S.2    Hayashi, H.3
  • 22
    • 27844470641 scopus 로고    scopus 로고
    • A Japanese family with ferroportin disease caused by a novel mutation of SLC40A1 gene: Hyperferritinemia associated with a relatively low transferrin saturation of iron
    • Koyama C, Wakusawa S, Hayashi H etal. A Japanese family with ferroportin disease caused by a novel mutation of SLC40A1 gene: Hyperferritinemia associated with a relatively low transferrin saturation of iron. Intern Med 2005; 44: 990-3.
    • (2005) Intern Med , vol.44 , pp. 990-993
    • Koyama, C.1    Wakusawa, S.2    Hayashi, H.3
  • 23
    • 77956211619 scopus 로고    scopus 로고
    • Central diabetes inspidus and hypothalamic hypothyroidism associated with aceruloplasminemia
    • Watanabe M, Asai C, Ishikawa K etal. Central diabetes inspidus and hypothalamic hypothyroidism associated with aceruloplasminemia. Intern Med 2010; 40: 1581-5.
    • (2010) Intern Med , vol.40 , pp. 1581-1585
    • Watanabe, M.1    Asai, C.2    Ishikawa, K.3
  • 24
    • 80054028443 scopus 로고    scopus 로고
    • Hemojuvelin hemochromatosis receiving iron chelation therapy with deferasirox: Improvement of liver disease activity, cardiac and hematological function
    • Maeda T, Nakamaki T, Saito B etal. Hemojuvelin hemochromatosis receiving iron chelation therapy with deferasirox: Improvement of liver disease activity, cardiac and hematological function. Eur J Haematol 2011; 87: 467-569.
    • (2011) Eur J Haematol , vol.87 , pp. 467-569
    • Maeda, T.1    Nakamaki, T.2    Saito, B.3
  • 25
    • 76249132616 scopus 로고    scopus 로고
    • Effect of iron overload on glucose metabolsim in patients with hereditary hemochromatosis
    • Hatunic M, Finucane FM, Brennan AM, Norris S, Pacini G, Nolan JJ. Effect of iron overload on glucose metabolsim in patients with hereditary hemochromatosis. Metabolism 2010; 59: 380-4.
    • (2010) Metabolism , vol.59 , pp. 380-384
    • Hatunic, M.1    Finucane, F.M.2    Brennan, A.M.3    Norris, S.4    Pacini, G.5    Nolan, J.J.6
  • 26
    • 77955012025 scopus 로고    scopus 로고
    • Iron homeostasis, hepatocellular injury, and fibrogenesis in hemochromatosis: The role of inflammation in a noninflammatory liver disease
    • Ramm GA, Ruddell RG. Iron homeostasis, hepatocellular injury, and fibrogenesis in hemochromatosis: The role of inflammation in a noninflammatory liver disease. Semin Liver Dis 2010; 30: 271-87.
    • (2010) Semin Liver Dis , vol.30 , pp. 271-287
    • Ramm, G.A.1    Ruddell, R.G.2
  • 27
    • 78549279176 scopus 로고    scopus 로고
    • Patients with chronic hepatitis C may be more sensitive to iron hepatotoxicity than patients with HFE-hemochromatosis
    • Hayashi H, Piperno A, Tomosugi N etal. Patients with chronic hepatitis C may be more sensitive to iron hepatotoxicity than patients with HFE-hemochromatosis. Intern Med 2010; 49: 2371-7.
    • (2010) Intern Med , vol.49 , pp. 2371-2377
    • Hayashi, H.1    Piperno, A.2    Tomosugi, N.3
  • 28
    • 77449103681 scopus 로고    scopus 로고
    • Mutations in the HFE gene and cardiovascular disease risk: An individual patient data meta-analysis of 53880 subjects
    • Van der ADL, Rovers MM, Grobbee DE etal. Mutations in the HFE gene and cardiovascular disease risk: An individual patient data meta-analysis of 53880 subjects. Circ Cardiovasc Genet 2008; 1: 43-50.
    • (2008) Circ Cardiovasc Genet , vol.1 , pp. 43-50
    • Van der, A.D.L.1    Rovers, M.M.2    Grobbee, D.E.3
  • 30
    • 77957664307 scopus 로고    scopus 로고
    • HFE gene mutations increase the risk of coronary heart disease in women
    • Paro Silva MC, Njajou OT, Alizadeh BZ etal. HFE gene mutations increase the risk of coronary heart disease in women. Eur J Epidemiol 2010; 25: 643-9.
    • (2010) Eur J Epidemiol , vol.25 , pp. 643-649
    • Paro Silva, M.C.1    Njajou, O.T.2    Alizadeh, B.Z.3


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