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Volumn 109, Issue 12, 2007, Pages 5525-5526

Effect of the new HJV-L165X mutation on penetrance of HFE [7]

Author keywords

[No Author keywords available]

Indexed keywords

DEFEROXAMINE; HEMOJUVELIN; HEPCIDIN; MESSENGER RNA; TRANSFERRIN;

EID: 34249990089     PISSN: 00064971     EISSN: 00064971     Source Type: Journal    
DOI: 10.1182/blood-2006-11-058560     Document Type: Letter
Times cited : (25)

References (12)
  • 1
    • 0016828591 scopus 로고
    • Idiopathic haemochromatosis: Juvenile and familial type - endocrine aspects
    • Goossens JP. Idiopathic haemochromatosis: Juvenile and familial type - endocrine aspects. Neth J Med. 1975;18:161-169.
    • (1975) Neth J Med , vol.18 , pp. 161-169
    • Goossens, J.P.1
  • 3
    • 0017780596 scopus 로고
    • Inheritance of idiopathic haemochromatosis
    • Goossens JP, Schreuder I, Went LN. Inheritance of idiopathic haemochromatosis. Lancet. 1977;1:1106-1107.
    • (1977) Lancet , vol.1 , pp. 1106-1107
    • Goossens, J.P.1    Schreuder, I.2    Went, L.N.3
  • 4
    • 34147197662 scopus 로고    scopus 로고
    • Mass spectometry-based hepcidin measurements in serum and urine: Analytical aspects and clinical implications
    • Kemna EHJM, Tjalsma H, Podust VN, Swinkels DW. Mass spectometry-based hepcidin measurements in serum and urine: analytical aspects and clinical implications. Clin Chem. 2007;53:620-628.
    • (2007) Clin Chem , vol.53 , pp. 620-628
    • Kemna, E.H.J.M.1    Tjalsma, H.2    Podust, V.N.3    Swinkels, D.W.4
  • 5
    • 2942619988 scopus 로고    scopus 로고
    • Genetic abnormalities and juvenile hemochromatosis: Mutations of the HJV gene encoding hemojuvelin
    • Lee PL, Beutler E, Rao SV, Barton JC. Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin. Blood. 2004;103:4669-4671.
    • (2004) Blood , vol.103 , pp. 4669-4671
    • Lee, P.L.1    Beutler, E.2    Rao, S.V.3    Barton, J.C.4
  • 6
    • 34248371666 scopus 로고    scopus 로고
    • Silvestri L, Pagani A, Fazi C, et al. Defective targeting of hemojuvelin to plasma membrane is a common pathogenetic mechanism in juvenile hemochromatosis. Blood. 2007. Prepublished on January 30, 2007, as doi: 10.1182/blood-2006-08-041004
    • Silvestri L, Pagani A, Fazi C, et al. Defective targeting of hemojuvelin to plasma membrane is a common pathogenetic mechanism in juvenile hemochromatosis. Blood. 2007. Prepublished on January 30, 2007, as doi: 10.1182/blood-2006-08-041004
  • 7
    • 33646370235 scopus 로고    scopus 로고
    • Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression
    • Babitt JL, Huang FW, Wrighting DM, et al. Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression. Nat Genet. 2006;38:531-539.
    • (2006) Nat Genet , vol.38 , pp. 531-539
    • Babitt, J.L.1    Huang, F.W.2    Wrighting, D.M.3
  • 8
    • 0036075097 scopus 로고    scopus 로고
    • Natural history of juvenile haemochromatosis
    • De Gobbi M, Roetto A, Piperno A, et al. Natural history of juvenile haemochromatosis. Br J Haematol. 2002;117:973-979.
    • (2002) Br J Haematol , vol.117 , pp. 973-979
    • De Gobbi, M.1    Roetto, A.2    Piperno, A.3
  • 9
    • 7444240286 scopus 로고    scopus 로고
    • Identification of new mutations of hepcidin and hemojuvelin in patients with HFE C282Y allele
    • Biasiotto G, Roetto A, Daraio F, et al. Identification of new mutations of hepcidin and hemojuvelin in patients with HFE C282Y allele. Blood Cells Mol Dis. 2004;33:338-343.
    • (2004) Blood Cells Mol Dis , vol.33 , pp. 338-343
    • Biasiotto, G.1    Roetto, A.2    Daraio, F.3
  • 10
    • 4544314123 scopus 로고    scopus 로고
    • The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype
    • Le Gac G, Scotet V, Ka C, et al. The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype. Hum Mol Genet. 2004;13:1913-1918.
    • (2004) Hum Mol Genet , vol.13 , pp. 1913-1918
    • Le Gac, G.1    Scotet, V.2    Ka, C.3
  • 11
    • 14344249451 scopus 로고    scopus 로고
    • Hemojuvelin (HJV)-associated hemochromatosis: Analysis of HJV and HFE mutations and iron overload in three families
    • Wallace DF, Dixon JL, Ramm GA, Anderson GJ, Powell LW, Subramaniam N. Hemojuvelin (HJV)-associated hemochromatosis: analysis of HJV and HFE mutations and iron overload in three families. Haematologica. 2005;90:254-255.
    • (2005) Haematologica , vol.90 , pp. 254-255
    • Wallace, D.F.1    Dixon, J.L.2    Ramm, G.A.3    Anderson, G.J.4    Powell, L.W.5    Subramaniam, N.6
  • 12
    • 33646337674 scopus 로고    scopus 로고
    • Iron metabolism meets signal transduction
    • Anderson GJ, Frazer DM. Iron metabolism meets signal transduction. Nat Genet. 2006;38:503-504.
    • (2006) Nat Genet , vol.38 , pp. 503-504
    • Anderson, G.J.1    Frazer, D.M.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.