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Volumn 34, Issue 7, 2013, Pages 1043-1045

How to Assess Causality of TMPRSS6 Mutations?

Author keywords

[No Author keywords available]

Indexed keywords

GENE; GENE MUTATION; GENETIC VARIABILITY; HEMOCHROMATOSIS; HUMAN; IRON DEFICIENCY ANEMIA; IRON REFRACTORY IRON DEFICIENCY ANEMIA; LETTER; MUTANT; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PROTEIN DEGRADATION; SINGLE NUCLEOTIDE POLYMORPHISM; TMPRSS6 GENE; WILD TYPE;

EID: 84879413835     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22321     Document Type: Letter
Times cited : (7)

References (14)
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    • A novel TMPRSS6 mutation that prevents protease auto-activation causes IRIDA
    • Altamura S, D'Alessio F, Selle B, Muckenthaler MU. 2010. A novel TMPRSS6 mutation that prevents protease auto-activation causes IRIDA. Biochem J 431:363-371.
    • (2010) Biochem J , vol.431 , pp. 363-371
    • Altamura, S.1    D'Alessio, F.2    Selle, B.3    Muckenthaler, M.U.4
  • 2
    • 84870777376 scopus 로고    scopus 로고
    • How I manage patients with atypical microcytic anaemia
    • Camaschella C. 2013. How I manage patients with atypical microcytic anaemia. Br J Haematol 160:12-24.
    • (2013) Br J Haematol , vol.160 , pp. 12-24
    • Camaschella, C.1
  • 8
    • 54349097980 scopus 로고    scopus 로고
    • Hemojuvelin N-terminal mutants reach the plasma membrane but do not activate the hepcidin response
    • Pagani A, Silvestri L, Nai A, Camaschella C. 2008. Hemojuvelin N-terminal mutants reach the plasma membrane but do not activate the hepcidin response. Haematologica 93:1466-1472.
    • (2008) Haematologica , vol.93 , pp. 1466-1472
    • Pagani, A.1    Silvestri, L.2    Nai, A.3    Camaschella, C.4
  • 10
    • 34248371666 scopus 로고    scopus 로고
    • Defective targeting of hemojuvelin to plasma membrane is a common pathogenetic mechanism in juvenile hemochromatosis
    • Silvestri L, Pagani A, Fazi C, Gerardi G, Levi S, Arosio P, Camaschella C. 2007. Defective targeting of hemojuvelin to plasma membrane is a common pathogenetic mechanism in juvenile hemochromatosis. Blood 109:4503-4510.
    • (2007) Blood , vol.109 , pp. 4503-4510
    • Silvestri, L.1    Pagani, A.2    Fazi, C.3    Gerardi, G.4    Levi, S.5    Arosio, P.6    Camaschella, C.7
  • 11
    • 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, 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
  • 14
    • 75449097854 scopus 로고    scopus 로고
    • Huh-7: a human "hemochromatotic" cell line
    • Vecchi C, Montosi G, Pietrangelo A. 2010. Huh-7: a human "hemochromatotic" cell line. Hepatology 5:654-659.
    • (2010) Hepatology , vol.5 , pp. 654-659
    • Vecchi, C.1    Montosi, G.2    Pietrangelo, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.