-
1
-
-
28444449032
-
Clinical aspects of hemochromatosis
-
O'Neil J., and Powell L. Clinical aspects of hemochromatosis. Semin Liver Dis 25 (2005) 381-391
-
(2005)
Semin Liver Dis
, vol.25
, pp. 381-391
-
-
O'Neil, J.1
Powell, L.2
-
2
-
-
9344224529
-
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
-
Feder J.N., Gnirke A., Thomas W., Tsuchihashi Z., Ruddy D.A., Basava A., et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 13 (1996) 399-408
-
(1996)
Nat Genet
, vol.13
, pp. 399-408
-
-
Feder, J.N.1
Gnirke, A.2
Thomas, W.3
Tsuchihashi, Z.4
Ruddy, D.A.5
Basava, A.6
-
3
-
-
9144252017
-
Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis
-
Papanikolaou G., Samuels M.E., Ludwig E.H., MacDonald M.L., Franchini P.L., Dube M.P., et al. Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. Nat Genet 36 (2004) 77-82
-
(2004)
Nat Genet
, vol.36
, pp. 77-82
-
-
Papanikolaou, G.1
Samuels, M.E.2
Ludwig, E.H.3
MacDonald, M.L.4
Franchini, P.L.5
Dube, M.P.6
-
4
-
-
20244388240
-
Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis
-
Roetto A., Papanikolaou G., Politou M., Alberti F., Girelli D., Christakis J., et al. Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. Nat Genet 33 (2003) 21-22
-
(2003)
Nat Genet
, vol.33
, pp. 21-22
-
-
Roetto, A.1
Papanikolaou, G.2
Politou, M.3
Alberti, F.4
Girelli, D.5
Christakis, J.6
-
5
-
-
0034022636
-
The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22
-
Camaschella C., Roetto A., Cali A., De Gobbi M., Garozzo G., Carella M., et al. The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22. Nat Genet 25 (2000) 14-15
-
(2000)
Nat Genet
, vol.25
, pp. 14-15
-
-
Camaschella, C.1
Roetto, A.2
Cali, A.3
De Gobbi, M.4
Garozzo, G.5
Carella, M.6
-
6
-
-
0034930197
-
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
-
Njajou O.T., Vaessen N., Joosse M., Berghuis B., van Dongen J.W., Breuning M.H., et al. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. Nat Genet 28 (2001) 213-214
-
(2001)
Nat Genet
, vol.28
, pp. 213-214
-
-
Njajou, O.T.1
Vaessen, N.2
Joosse, M.3
Berghuis, B.4
van Dongen, J.W.5
Breuning, M.H.6
-
7
-
-
17944380796
-
Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene
-
Montosi G., Donovan A., Totaro A., Garuti C., Pignatti E., Cassanelli S., et al. Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. J Clin Invest 108 (2001) 619-623
-
(2001)
J Clin Invest
, vol.108
, pp. 619-623
-
-
Montosi, G.1
Donovan, A.2
Totaro, A.3
Garuti, C.4
Pignatti, E.5
Cassanelli, S.6
-
8
-
-
0742272103
-
The ferroportin disease
-
Pietrangelo A. The ferroportin disease. Blood Cells Mol Dis 32 (2004) 131-138
-
(2004)
Blood Cells Mol Dis
, vol.32
, pp. 131-138
-
-
Pietrangelo, A.1
-
9
-
-
1642280929
-
Autosomal dominant iron overload due to a novel mutation of ferroportin1 associated with parenchymal iron loading and cirrhosis
-
Wallace D.F., Clark R.M., Harley H.A., and Subramaniam V.N. Autosomal dominant iron overload due to a novel mutation of ferroportin1 associated with parenchymal iron loading and cirrhosis. J Hepatol 40 (2004) 710-713
-
(2004)
J Hepatol
, vol.40
, pp. 710-713
-
-
Wallace, D.F.1
Clark, R.M.2
Harley, H.A.3
Subramaniam, V.N.4
-
10
-
-
18544389247
-
Ferroportin mutations: a tale of two phenotypes
-
Nemeth E. Ferroportin mutations: a tale of two phenotypes. Blood 105 (2005) 3763-3764
-
(2005)
Blood
, vol.105
, pp. 3763-3764
-
-
Nemeth, E.1
-
12
-
-
20844462571
-
In vitro functional analysis of human ferroportin (FPN) and hemochromatosis-associated FPN mutations
-
Schimanski L.M., Drakesmith H., Merryweather-Clarke A.T., Viprakasit V., Edwards J.P., Sweetland E., et al. In vitro functional analysis of human ferroportin (FPN) and hemochromatosis-associated FPN mutations. Blood 105 (2005) 4096-4102
-
(2005)
Blood
, vol.105
, pp. 4096-4102
-
-
Schimanski, L.M.1
Drakesmith, H.2
Merryweather-Clarke, A.T.3
Viprakasit, V.4
Edwards, J.P.5
Sweetland, E.6
-
13
-
-
23044508432
-
Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin
-
Drakesmith H., Schimanski L.M., Ormerod E., Merryweather-Clarke A.T., Viprakasit V., Edwards J.P., et al. Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin. Blood 106 (2005) 1092-1097
-
(2005)
Blood
, vol.106
, pp. 1092-1097
-
-
Drakesmith, H.1
Schimanski, L.M.2
Ormerod, E.3
Merryweather-Clarke, A.T.4
Viprakasit, V.5
Edwards, J.P.6
-
14
-
-
21144435281
-
The molecular basis of ferroportin-linked hemochromatosis
-
de Domenico I., Ward D.M., Nemeth E., Vaughn M.B., Musci G., Ganz T., et al. The molecular basis of ferroportin-linked hemochromatosis. Proc Natl Acad Sci USA 102 (2005) 8955-8960
-
(2005)
Proc Natl Acad Sci USA
, vol.102
, pp. 8955-8960
-
-
de Domenico, I.1
Ward, D.M.2
Nemeth, E.3
Vaughn, M.B.4
Musci, G.5
Ganz, T.6
-
15
-
-
21544442328
-
Functional consequences of ferroportin 1 mutations
-
Liu X.B., Yang F., and Haile D.J. Functional consequences of ferroportin 1 mutations. Blood Cells Mol Dis 35 (2005) 33-46
-
(2005)
Blood Cells Mol Dis
, vol.35
, pp. 33-46
-
-
Liu, X.B.1
Yang, F.2
Haile, D.J.3
-
16
-
-
0037100517
-
Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis
-
Wallace D.F., Pedersen P., Dixon J.L., Stephenson P., Searle J.W., Powell L.W., et al. Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis. Blood 100 (2002) 692-694
-
(2002)
Blood
, vol.100
, pp. 692-694
-
-
Wallace, D.F.1
Pedersen, P.2
Dixon, J.L.3
Stephenson, P.4
Searle, J.W.5
Powell, L.W.6
-
17
-
-
0032544921
-
Development of a bicistronic vector driven by the human polypeptide chain elongation factor 1alpha promoter for creation of stable mammalian cell lines that express very high levels of recombinant proteins
-
Hobbs S., Jitrapakdee S., and Wallace J.C. Development of a bicistronic vector driven by the human polypeptide chain elongation factor 1alpha promoter for creation of stable mammalian cell lines that express very high levels of recombinant proteins. Biochem Biophys Res Commun 252 (1998) 368-372
-
(1998)
Biochem Biophys Res Commun
, vol.252
, pp. 368-372
-
-
Hobbs, S.1
Jitrapakdee, S.2
Wallace, J.C.3
-
18
-
-
0036777652
-
One-step site-directed mutagenesis of ATM cDNA in large (20 kb) plasmid constructs
-
Scott S.P., Teh A., Peng C., and Lavin M.F. One-step site-directed mutagenesis of ATM cDNA in large (20 kb) plasmid constructs. Hum Mutat 20 (2002) 323
-
(2002)
Hum Mutat
, vol.20
, pp. 323
-
-
Scott, S.P.1
Teh, A.2
Peng, C.3
Lavin, M.F.4
-
19
-
-
27944441799
-
Purification and partial characterisation of recombinant human hepcidin
-
Wallace D.F., Jones M.D., Pedersen P., Rivas L., Sly L.I., and Subramaniam V.N. Purification and partial characterisation of recombinant human hepcidin. Biochimie 88 (2006) 31-37
-
(2006)
Biochimie
, vol.88
, pp. 31-37
-
-
Wallace, D.F.1
Jones, M.D.2
Pedersen, P.3
Rivas, L.4
Sly, L.I.5
Subramaniam, V.N.6
-
20
-
-
31544466533
-
Impaired iron transport activity of ferroportin 1 in hereditary iron overload
-
McGregor J.A., Shayeghi M., Vulpe C.D., Anderson G.J., Pietrangelo A., Simpson R.J., et al. Impaired iron transport activity of ferroportin 1 in hereditary iron overload. J Membr Biol 206 (2005) 3-7
-
(2005)
J Membr Biol
, vol.206
, pp. 3-7
-
-
McGregor, J.A.1
Shayeghi, M.2
Vulpe, C.D.3
Anderson, G.J.4
Pietrangelo, A.5
Simpson, R.J.6
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