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Volumn 21, Issue 9, 2012, Pages 2124-2131

TMPRSS6, but not TF, TFR2 or BMP2 variants are associated with increased risk of iron-deficiency anemia

Author keywords

[No Author keywords available]

Indexed keywords

HEMOGLOBIN; MATRIPTASE; TRANSFERRIN;

EID: 84859243904     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/dds028     Document Type: Article
Times cited : (82)

References (37)
  • 3
    • 80053364446 scopus 로고    scopus 로고
    • How I treat thalassemia
    • doi:10.1182/blood-2010-08-300335
    • Rachmilewitz, E.A. and Giardina, P.J. (2011) How I treat thalassemia. Blood, doi:10.1182/blood-2010-08-300335.
    • (2011) Blood
    • Rachmilewitz, E.A.1    Giardina, P.J.2
  • 5
  • 10
    • 66149145303 scopus 로고    scopus 로고
    • Regulation of hepcidin and iron-overload disease
    • Lee, P.L. and Beutler, E. (2009) Regulation of hepcidin and iron-overload disease. Annu. Rev. Pathol. Mech. Dis., 4, 489-515.
    • (2009) Annu. Rev. Pathol. Mech. Dis. , vol.4 , pp. 489-515
    • Lee, P.L.1    Beutler, E.2
  • 17
    • 80054840413 scopus 로고    scopus 로고
    • TMPRSS6 rs855791 modulates hepcidin transcription in vitro and serum hepcidin levels in normal individuals
    • doi:10.1182/blood-2011-06-364034
    • Nai, A., Pagani, A., Silvestri, L., Campostrini, N., Corbella, M., Girelli, D., Traglia, M., Toniolo, D. and Camaschella, C. (2011) TMPRSS6 rs855791 modulates hepcidin transcription in vitro and serum hepcidin levels in normal individuals. Blood, doi:10.1182/blood-2011-06-364034.
    • (2011) Blood
    • Nai, A.1    Pagani, A.2    Silvestri, L.3    Campostrini, N.4    Corbella, M.5    Girelli, D.6    Traglia, M.7    Toniolo, D.8    Camaschella, C.9
  • 20
  • 22
    • 19544369489 scopus 로고    scopus 로고
    • Molecular characterization of a third case of human atransferrinemia
    • Knisely, A.S. (2004) Molecular characterization of a third case of human atransferrinemia. Blood, 104, 2607.
    • (2004) Blood , vol.104 , pp. 2607
    • Knisely, A.S.1
  • 23
    • 0035726009 scopus 로고    scopus 로고
    • Human transferrin G277S mutation: a risk factor for iron deficiency anaemia
    • Lee, P.L., Halloran, C., Trevino, R., Felitti, V. and Beutler, E. (2001) Human transferrin G277S mutation: a risk factor for iron deficiency anaemia. Brit. J. Haematol., 115, 329-333.
    • (2001) Brit. J. Haematol. , vol.115 , pp. 329-333
    • Lee, P.L.1    Halloran, C.2    Trevino, R.3    Felitti, V.4    Beutler, E.5
  • 25
    • 0035896642 scopus 로고    scopus 로고
    • Hepcidin, a urinary antimicrobial peptide synthesized in the liver
    • Park, C.H., Valore, E.V., Waring, A.J. and Ganz, T. (2001) Hepcidin, a urinary antimicrobial peptide synthesized in the liver. J. Biol. Chem., 276, 7806-7810.
    • (2001) J. Biol. Chem. , vol.276 , pp. 7806-7810
    • Park, C.H.1    Valore, E.V.2    Waring, A.J.3    Ganz, T.4
  • 26
    • 10844258104 scopus 로고    scopus 로고
    • Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization
    • Nemeth, E. (2004) Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization. Science, 306, 2090-2093.
    • (2004) Science , vol.306 , pp. 2090-2093
    • Nemeth, E.1
  • 27
    • 75049084543 scopus 로고    scopus 로고
    • Genetic mechanisms and modifying factors in hereditary hemochromatosis
    • Weiss, G. (2009) Genetic mechanisms and modifying factors in hereditary hemochromatosis. Nat. Rev. Gastroenterol. Hepatol., 7, 50-58.
    • (2009) Nat. Rev. Gastroenterol. Hepatol. , vol.7 , pp. 50-58
    • Weiss, G.1
  • 31
    • 56449096622 scopus 로고    scopus 로고
    • The serine protease matriptase-2 (TMPRSS6) inhibits hepcidin activation by cleaving membrane hemojuvelin
    • Silvestri, L., Pagani, A., Nai, A., De Domenico, I., Kaplan, J. and Camaschella, C. (2008) The serine protease matriptase-2 (TMPRSS6) inhibits hepcidin activation by cleaving membrane hemojuvelin. Cell Metab., 8, 502-511.
    • (2008) Cell Metab , vol.8 , pp. 502-511
    • Silvestri, L.1    Pagani, A.2    Nai, A.3    De Domenico, I.4    Kaplan, J.5    Camaschella, C.6
  • 32
    • 67049134745 scopus 로고    scopus 로고
    • Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia
    • Silvestri, L., Guillem, F., Pagani, A., Nai, A., Oudin, C., Silva, M., Toutain, F., Kannengiesser, C., Beaumont, C., Camaschella, C. et al. (2009) Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia. Blood, 113, 5605-5608.
    • (2009) Blood , vol.113 , pp. 5605-5608
    • Silvestri, L.1    Guillem, F.2    Pagani, A.3    Nai, A.4    Oudin, C.5    Silva, M.6    Toutain, F.7    Kannengiesser, C.8    Beaumont, C.9    Camaschella, C.10
  • 34
    • 80052587883 scopus 로고    scopus 로고
    • Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations
    • Traglia, M., Girelli, D., Biino, G., Campostrini, N., Corbella, M., Sala, C., Masciullo, C., Vigano, F., Buetti, I., Pistis, G. et al. (2011) Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations. J. Med. Genet., 48, 629-634.
    • (2011) J. Med. Genet. , vol.48 , pp. 629-634
    • Traglia, M.1    Girelli, D.2    Biino, G.3    Campostrini, N.4    Corbella, M.5    Sala, C.6    Masciullo, C.7    Vigano, F.8    Buetti, I.9    Pistis, G.10
  • 37


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.