메뉴 건너뛰기




Volumn 46, Issue 5, 2007, Pages 921-926

A novel mutation in ferroportin implicated in iron overload

Author keywords

Autosomal dominant; Ferroportin; Iron overload; Mutation detection; Real time PCR

Indexed keywords

FERRITIN; FERROPORTIN; HEPCIDIN; IRON; IRON BINDING PROTEIN; TRANSFERRIN; UNCLASSIFIED DRUG;

EID: 34047175337     PISSN: 01688278     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jhep.2007.01.033     Document Type: Article
Times cited : (24)

References (20)
  • 1
    • 28444449032 scopus 로고    scopus 로고
    • Clinical aspects of hemochromatosis
    • O'Neil J., and Powell L. Clinical aspects of hemochromatosis. Semin Liver Dis 25 (2005) 381-391
    • (2005) Semin Liver Dis , vol.25 , pp. 381-391
    • O'Neil, J.1    Powell, L.2
  • 2
    • 9344224529 scopus 로고    scopus 로고
    • A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
    • Feder J.N., Gnirke A., Thomas W., Tsuchihashi Z., Ruddy D.A., Basava A., et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 13 (1996) 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    Basava, A.6
  • 4
    • 20244388240 scopus 로고    scopus 로고
    • Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis
    • Roetto A., Papanikolaou G., Politou M., Alberti F., Girelli D., Christakis J., et al. Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. Nat Genet 33 (2003) 21-22
    • (2003) Nat Genet , vol.33 , pp. 21-22
    • Roetto, A.1    Papanikolaou, G.2    Politou, M.3    Alberti, F.4    Girelli, D.5    Christakis, J.6
  • 7
    • 17944380796 scopus 로고    scopus 로고
    • Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene
    • Montosi G., Donovan A., Totaro A., Garuti C., Pignatti E., Cassanelli S., et al. Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. J Clin Invest 108 (2001) 619-623
    • (2001) J Clin Invest , vol.108 , pp. 619-623
    • Montosi, G.1    Donovan, A.2    Totaro, A.3    Garuti, C.4    Pignatti, E.5    Cassanelli, S.6
  • 8
    • 0742272103 scopus 로고    scopus 로고
    • The ferroportin disease
    • Pietrangelo A. The ferroportin disease. Blood Cells Mol Dis 32 (2004) 131-138
    • (2004) Blood Cells Mol Dis , vol.32 , pp. 131-138
    • Pietrangelo, A.1
  • 9
    • 1642280929 scopus 로고    scopus 로고
    • Autosomal dominant iron overload due to a novel mutation of ferroportin1 associated with parenchymal iron loading and cirrhosis
    • Wallace D.F., Clark R.M., Harley H.A., and Subramaniam V.N. Autosomal dominant iron overload due to a novel mutation of ferroportin1 associated with parenchymal iron loading and cirrhosis. J Hepatol 40 (2004) 710-713
    • (2004) J Hepatol , vol.40 , pp. 710-713
    • Wallace, D.F.1    Clark, R.M.2    Harley, H.A.3    Subramaniam, V.N.4
  • 10
    • 18544389247 scopus 로고    scopus 로고
    • Ferroportin mutations: a tale of two phenotypes
    • Nemeth E. Ferroportin mutations: a tale of two phenotypes. Blood 105 (2005) 3763-3764
    • (2005) Blood , vol.105 , pp. 3763-3764
    • Nemeth, E.1
  • 15
    • 21544442328 scopus 로고    scopus 로고
    • Functional consequences of ferroportin 1 mutations
    • Liu X.B., Yang F., and Haile D.J. Functional consequences of ferroportin 1 mutations. Blood Cells Mol Dis 35 (2005) 33-46
    • (2005) Blood Cells Mol Dis , vol.35 , pp. 33-46
    • Liu, X.B.1    Yang, F.2    Haile, D.J.3
  • 16
    • 0037100517 scopus 로고    scopus 로고
    • Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis
    • Wallace D.F., Pedersen P., Dixon J.L., Stephenson P., Searle J.W., Powell L.W., et al. Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis. Blood 100 (2002) 692-694
    • (2002) Blood , vol.100 , pp. 692-694
    • Wallace, D.F.1    Pedersen, P.2    Dixon, J.L.3    Stephenson, P.4    Searle, J.W.5    Powell, L.W.6
  • 17
    • 0032544921 scopus 로고    scopus 로고
    • Development of a bicistronic vector driven by the human polypeptide chain elongation factor 1alpha promoter for creation of stable mammalian cell lines that express very high levels of recombinant proteins
    • Hobbs S., Jitrapakdee S., and Wallace J.C. Development of a bicistronic vector driven by the human polypeptide chain elongation factor 1alpha promoter for creation of stable mammalian cell lines that express very high levels of recombinant proteins. Biochem Biophys Res Commun 252 (1998) 368-372
    • (1998) Biochem Biophys Res Commun , vol.252 , pp. 368-372
    • Hobbs, S.1    Jitrapakdee, S.2    Wallace, J.C.3
  • 18
    • 0036777652 scopus 로고    scopus 로고
    • One-step site-directed mutagenesis of ATM cDNA in large (20 kb) plasmid constructs
    • Scott S.P., Teh A., Peng C., and Lavin M.F. One-step site-directed mutagenesis of ATM cDNA in large (20 kb) plasmid constructs. Hum Mutat 20 (2002) 323
    • (2002) Hum Mutat , vol.20 , pp. 323
    • Scott, S.P.1    Teh, A.2    Peng, C.3    Lavin, M.F.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.