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Journal Abstract Search

193 related items for PubMed ID: 23784628

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  • 3. Impact of D181V and A69T on the function of ferroportin as an iron export pump and hepcidin receptor.
    Praschberger R, Schranz M, Griffiths WJ, Baumgartner N, Hermann M, Lomas DJ, Pietrangelo A, Cox TM, Vogel W, Zoller H.
    Biochim Biophys Acta; 2014 Sep; 1842(9):1406-12. PubMed ID: 24859227
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  • 5. A structural model of human ferroportin and of its iron binding site.
    Bonaccorsi di Patti MC, Polticelli F, Cece G, Cutone A, Felici F, Persichini T, Musci G.
    FEBS J; 2014 Jun; 281(12):2851-60. PubMed ID: 24767627
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  • 6. Clinical presentation and molecular pathophysiology of autosomal dominant hemochromatosis caused by a novel ferroportin mutation.
    Griffiths WJ, Mayr R, McFarlane I, Hermann M, Halsall DJ, Zoller H, Cox TM.
    Hepatology; 2010 Mar; 51(3):788-95. PubMed ID: 19937651
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  • 7. Molecular model of the ferroportin intracellular gate and implications for the human iron transport cycle and hemochromatosis type 4A.
    Guellec J, Elbahnsi A, Tertre ML, Uguen K, Gourlaouen I, Férec C, Ka C, Callebaut I, Gac GL.
    FASEB J; 2019 Dec; 33(12):14625-14635. PubMed ID: 31690120
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  • 12. A novel SLC40A1 p.Y333H mutation with gain of function of ferroportin: A recurrent cause of haemochromatosis in China.
    Zhang W, Xu A, Li Y, Zhao S, Zhou D, Wu L, Zhang B, Zhao X, Wang Y, Wang X, Duan W, Wang Q, Nan Y, You H, Jia J, Ou X, Huang J, China Registry of Genetic/Metabolic Liver Diseases (CR-GMLD) Group.
    Liver Int; 2019 Jun; 39(6):1120-1127. PubMed ID: 30500107
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  • 16. Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients.
    Callebaut I, Joubrel R, Pissard S, Kannengiesser C, Gérolami V, Ged C, Cadet E, Cartault F, Ka C, Gourlaouen I, Gourhant L, Oudin C, Goossens M, Grandchamp B, De Verneuil H, Rochette J, Férec C, Le Gac G.
    Hum Mol Genet; 2014 Sep 01; 23(17):4479-90. PubMed ID: 24714983
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  • 18. The SLC40A1 R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism.
    Ka C, Guellec J, Pepermans X, Kannengiesser C, Ged C, Wuyts W, Cassiman D, de Ledinghen V, Varet B, de Kerguenec C, Oudin C, Gourlaouen I, Lefebvre T, Férec C, Callebaut I, Le Gac G.
    Haematologica; 2018 Nov 01; 103(11):1796-1805. PubMed ID: 30002125
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