Magnetic resonance imaging to identify classic and nonclassic forms of ferroportin disease

Blood Cells, Molecules, and Diseases - Tập 37 - Trang 192-196 - 2006
Antonello Pietrangelo1, Elena Corradini1, Francesca Ferrara1, Alberto Vegetti1, Gerard De Jong2, Gian Luca Abbati1, Pier Paolo Arcuri1, Sara Martinelli3, Emilio Cerofolini3
1Center for Hemochromatosis, Department of Internal Medicine, University Hospital of Modena and Reggio Emilia, Policlinico, Via del Pozzo 71 41100 Modena, Italy
2Department of Internal Medicine, Erasmus Medical Centre, Rotterdam, the Netherlands
3Department of Radiology, University Hospital of Modena and Reggio Emilia, Modena, Italy

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