Magnetic resonance imaging to identify classic and nonclassic forms of ferroportin disease
Tài liệu tham khảo
Pietrangelo, 1999, Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene, N. Engl. J. Med., 341, 725, 10.1056/NEJM199909023411003
Montosi, 2001, Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene, J. Clin. Invest., 108, 619, 10.1172/JCI200113468
Devalia, 2002, Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3), Blood, 100, 695, 10.1182/blood-2001-11-0132
Wallace, 2002, Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis, Blood, 100, 692, 10.1182/blood.V100.2.692
Hetet, 2003, Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations, Blood, 102, 1904, 10.1182/blood-2003-02-0439
Arden, 2003, A novel mutation in ferroportin1 is associated with haemochromatosis in a Solomon Islands patient, Gut, 52, 1215, 10.1136/gut.52.8.1215
Jouanolle, 2003, Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload, J. Hepatol., 39, 286, 10.1016/S0168-8278(03)00148-X
Rivard, 2003, Autosomal dominant reticuloendothelial iron overload (HFE type 4) due to a new missense mutation in the FERROPORTIN 1 gene (SLC11A3) in a large French-Canadian family, Haematologica, 88, 824
Cremonesi, 2005, Genetic and clinical heterogeneity of ferroportin disease, Br. J. Haematol., 131, 663, 10.1111/j.1365-2141.2005.05815.x
Liu, 2005, Hemochromatosis with mutation of the ferroportin 1 (IREG1) gene, Intern. Med., 44, 285, 10.2169/internalmedicine.44.285
Subramaniam, 2005, Ferroportin disease due to the A77D mutation in Australia, Gut, 54, 1048, 10.1136/gut.2005.069021
Koyama, 2005, Three patients with middle-age-onset hemochromatosis caused by novel mutations in the hemojuvelin gene, J. Hepatol., 43, 740, 10.1016/j.jhep.2005.06.024
Bach, 2006, Autosomal dominant hereditary hemochromatosis associated with two novel Ferroportin 1 mutations in Spain, Blood Cells Mol. Dis., 36, 41, 10.1016/j.bcmd.2005.09.001
Njajou, 2001, A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis, Nat. Genet., 28, 213, 10.1038/90038
Wallace, 2004, Autosomal dominant iron overload due to a novel mutation of ferroportin1 associated with parenchymal iron loading and cirrhosis, J. Hepatol., 40, 710, 10.1016/j.jhep.2003.12.008
Sham, 2005, Autosomal dominant hereditary hemochromatosis associated with a novel ferroportin mutation and unique clinical features, Blood Cells Mol. Dis., 34, 157, 10.1016/j.bcmd.2004.12.002
Pietrangelo, 2004, The ferroportin disease, Blood Cells Mol. Dis., 32, 131, 10.1016/j.bcmd.2003.08.003
Drakesmith, 2005, Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin, Blood, 106, 1092, 10.1182/blood-2005-02-0561
Schimanski, 2005, In vitro functional analysis of human ferroportin (FPN) and hemochromatosis-associated FPN mutations, Blood, 105, 4096, 10.1182/blood-2004-11-4502
De Domenico, 2005, The molecular basis of ferroportin-linked hemochromatosis, Proc. Natl. Acad. Sci. U. S. A., 102, 8955, 10.1073/pnas.0503804102
McGregor, 2005, Impaired iron transport activity of ferroportin 1 in hereditary iron overload, J. Membr. Biol., 206, 3, 10.1007/s00232-005-0768-1
Liu, 2005, Functional consequences of ferroportin 1 mutations, Blood Cells Mol. Dis., 35, 33, 10.1016/j.bcmd.2005.04.005
Goncalves, 2006, Wild-type and mutant ferroportins do not form oligomers in transfected cells, Biochem. J., 396, 265, 10.1042/BJ20051682
Gandon, 2004, Non-invasive assessment of hepatic iron stores by MRI, Lancet, 363, 357, 10.1016/S0140-6736(04)15436-6
Nemeth, 2004, Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization, Science, 306, 2090, 10.1126/science.1104742
De Domenico, 2006, Molecular and clinical correlates in iron overload associated with mutations in ferroportin, Haematologica, 91, 1092