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Volumn 31, Issue 10, 2011, Pages 1593-1597

A novel Y231del mutation of HFE in hereditary haemochromatosis provides in vivo evidence that the Huh-7 is a human haemochromatotic cell line

Author keywords

Cirrhosis; Diabetes mellitus; Iron overload

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; CARCINOEMBRYONIC ANTIGEN; FERRITIN; HEPCIDIN; HFE PROTEIN; IRON; MUTANT PROTEIN; TYROSINE;

EID: 80053975390     PISSN: 14783223     EISSN: 14783231     Source Type: Journal    
DOI: 10.1111/j.1478-3231.2011.02620.x     Document Type: Article
Times cited : (15)

References (15)
  • 1
    • 77955508573 scopus 로고    scopus 로고
    • Hereditary hemochromatosis: pathogenesis, diagnosis, and treatment
    • Pietrangelo A. Hereditary hemochromatosis: pathogenesis, diagnosis, and treatment. Gastroenterol 2010; 139: 393-408.
    • (2010) Gastroenterol , vol.139 , pp. 393-408
    • Pietrangelo, A.1
  • 2
    • 9344224529 scopus 로고    scopus 로고
    • A novel MHC class-like gene is mutated in patients with hereditary haemochromatosis
    • Feder JN, Gnirke A, Thomas W, et al. A novel MHC class-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
  • 3
    • 0036177909 scopus 로고    scopus 로고
    • A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation
    • Gochee PA, Powell LW, Cullen DJ, et al. A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation. Gastroenterol 2002; 122: 646-51.
    • (2002) Gastroenterol , vol.122 , pp. 646-651
    • Gochee, P.A.1    Powell, L.W.2    Cullen, D.J.3
  • 4
    • 0034881731 scopus 로고    scopus 로고
    • Hemochromatosis with HFE gene mutation in a Japanese patient
    • Sohda T, Okubo R, Kamimura S, Ohkawara T. Hemochromatosis with HFE gene mutation in a Japanese patient. Am J Gastroenterol 2001; 96: 2487-8.
    • (2001) Am J Gastroenterol , vol.96 , pp. 2487-2488
    • Sohda, T.1    Okubo, R.2    Kamimura, S.3    Ohkawara, T.4
  • 5
    • 0030732164 scopus 로고    scopus 로고
    • Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells
    • Waheed A, Parkkila S, Zhou XY, et al. Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells. Proc Natl Aced Sci USA 1997; 94: 12384-9.
    • (1997) Proc Natl Aced Sci USA , vol.94 , pp. 12384-12389
    • Waheed, A.1    Parkkila, S.2    Zhou, X.Y.3
  • 6
    • 13144282684 scopus 로고    scopus 로고
    • The hemochromatosis gene product complexes with transferring receptor and lowers its affinity for ligand binding
    • Feder JN, Penny DM, Irrinki A, et al. The hemochromatosis gene product complexes with transferring receptor and lowers its affinity for ligand binding. Proc Natl Acad Sci USA 1998; 95: 1472-7.
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 1472-1477
    • Feder, J.N.1    Penny, D.M.2    Irrinki, A.3
  • 7
    • 75449097854 scopus 로고    scopus 로고
    • Huh-7: a human "hemochromatotic" cell line
    • Vecchi C, Montosi G, Pietrangelo A. Huh-7: a human "hemochromatotic" cell line. Hepatology 2010; 51: 654-9.
    • (2010) Hepatology , vol.51 , pp. 654-659
    • Vecchi, C.1    Montosi, G.2    Pietrangelo, A.3
  • 8
    • 78651265056 scopus 로고    scopus 로고
    • Measurement of serum hepcidin-25 as a potential test for diagnosing hemochromatosis and related disorders
    • Kaneko Y, Miyajima H, Piperno A, et al. Measurement of serum hepcidin-25 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
  • 9
    • 34547940326 scopus 로고    scopus 로고
    • Quantitation of hepcidin from human and mouse serum using liquid chromatography tandem mass spectrometry
    • Murphy AT, Witcher DR, Luan P, Wroblewski VJ. Quantitation of hepcidin from human and mouse serum using liquid chromatography tandem mass spectrometry. Blood 2007; 110: 1048-54.
    • (2007) Blood , vol.110 , pp. 1048-1054
    • Murphy, A.T.1    Witcher, D.R.2    Luan, P.3    Wroblewski, V.J.4
  • 10
    • 0034284595 scopus 로고    scopus 로고
    • LEAP-1, a novel highly disulfide-bonded human peptide, exhibits antimicrobial activity
    • Krause A, Neitz S, Mägert 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    Mägert, H.J.3
  • 11
    • 0035896642 scopus 로고    scopus 로고
    • Hepcidin, a urinary antimicrobial peptide synthesized in the liver
    • Park CH, Valore EV, Waring AJ, Ganz T. 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    Ganz, T.4
  • 12
    • 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
  • 13
    • 78649884252 scopus 로고    scopus 로고
    • Novel tools for the evaluation of iron metabolism. Haematologica
    • Kautz L, Nemeth E. Novel tools for the evaluation of iron metabolism. Haematologica 2010; 95: 1989-91.
    • (2010) , vol.95 , pp. 1989-1991
    • Kautz, L.1    Nemeth, E.2
  • 14
    • 37049024131 scopus 로고    scopus 로고
    • Blunted hepcidin response to oral iron challenge in HFE-related hemochromatosis
    • Piperno A, Girelli D, Nemeth E, et al. Blunted hepcidin response to oral iron challenge in HFE-related hemochromatosis. Blood 2007; 110: 4096-100.
    • (2007) Blood , vol.110 , pp. 4096-4100
    • Piperno, A.1    Girelli, D.2    Nemeth, E.3
  • 15
    • 0019966544 scopus 로고
    • Growth of human hepatoma cells lines with differentiated functions in chemically defined medium
    • Nakabayashi H, Taketa K, Miyano K, Yamane T, Sato J. Growth of human hepatoma cells lines with differentiated functions in chemically defined medium. Cancer Res 1982; 42: 3858-63.
    • (1982) Cancer Res , vol.42 , pp. 3858-3863
    • Nakabayashi, H.1    Taketa, K.2    Miyano, K.3    Yamane, T.4    Sato, J.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.