-
1
-
-
9344224529
-
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
-
Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis [see comments]. Nat Genet 1996;13:399-408.
-
(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
-
2
-
-
0742272103
-
The ferroportin disease
-
Pietrangelo A. The ferroportin disease. Blood Cells Mol Dis 2004;32:131-8.
-
(2004)
Blood Cells Mol Dis
, vol.32
, pp. 131-138
-
-
Pietrangelo, A.1
-
3
-
-
0033517341
-
Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene
-
Pietrangelo A, Montosi G, Totaro A, Garuti C, Conte D, Cassanelli S, et al. Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene. N Engl J Med 1999;341:725-32.
-
(1999)
N Engl J Med
, vol.341
, pp. 725-732
-
-
Pietrangelo, A.1
Montosi, G.2
Totaro, A.3
Garuti, C.4
Conte, D.5
Cassanelli, S.6
-
4
-
-
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 2001;108:619-23.
-
(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
-
5
-
-
0242724167
-
Dominant hemochromatosis due to N144H mutation of SLC11A3: Clinical and biological characteristics
-
Njajou OT, de Jong G, Berghuis B, Vaessen N, Snijders PJ, Goossens JP, et al. Dominant hemochromatosis due to N144H mutation of SLC11A3: clinical and biological characteristics. Blood Cells Mol Dis 2002;29:439-43.
-
(2002)
Blood Cells Mol Dis
, vol.29
, pp. 439-443
-
-
Njajou, O.T.1
De Jong, G.2
Berghuis, B.3
Vaessen, N.4
Snijders, P.J.5
Goossens, J.P.6
-
6
-
-
0037100382
-
Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3)
-
Devalia V, Carter K, Walker AP, Perkins SJ, Worwood M, May A, et al. Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3). Blood 2002;100:695-7.
-
(2002)
Blood
, vol.100
, pp. 695-697
-
-
Devalia, V.1
Carter, K.2
Walker, A.P.3
Perkins, S.J.4
Worwood, M.5
May, A.6
-
7
-
-
0037100517
-
Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis
-
Wallace DF, Pedersen P, Dixon JL, Stephenson P, Searle JW, Powell LW, et al. Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis. Blood 2002;100:692-4.
-
(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
-
8
-
-
0037100383
-
A valine deletion of ferroportin 1: A common mutation in hemochromastosis type 4
-
Roetto A, Merryweather-Clarke AT, Daraio F, Livesey K, Pointon JJ, Barbabietola G, et al. A valine deletion of ferroportin 1: a common mutation in hemochromastosis type 4. Blood 2002; 100:733-4.
-
(2002)
Blood
, vol.100
, pp. 733-734
-
-
Roetto, A.1
Merryweather-Clarke, A.T.2
Daraio, F.3
Livesey, K.4
Pointon, J.J.5
Barbabietola, G.6
-
9
-
-
18744400781
-
Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3)
-
Cazzola M, Cremonesi L, Papaioannou M, Soriani N, Kioumi A, Charalambidou A, et al. Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3). Br J Haematol 2002;119:539-46.
-
(2002)
Br J Haematol
, vol.119
, pp. 539-546
-
-
Cazzola, M.1
Cremonesi, L.2
Papaioannou, M.3
Soriani, N.4
Kioumi, A.5
Charalambidou, A.6
-
10
-
-
0037860450
-
Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations
-
Hetet G, Devaux I, Soufir N, Grandchamp B, Beaumont C. Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations. Blood 2003;102: 1904-10.
-
(2003)
Blood
, vol.102
, pp. 1904-1910
-
-
Hetet, G.1
Devaux, I.2
Soufir, N.3
Grandchamp, B.4
Beaumont, C.5
-
11
-
-
0037174609
-
C/EBPα regulates hepatic transcription of hepcidin, an antimicrobial peptide and regulator of iron metabolism. Cross-talk between C/EBP pathway and iron metabolism
-
Courselaud B, Pigeon C, Inoue Y, Inoue J, Gonzalez FJ, Leroyer P, et al. C/EBPα regulates hepatic transcription of hepcidin, an antimicrobial peptide and regulator of iron metabolism. Cross-talk between C/EBP pathway and iron metabolism. J Biol Chem 2002;277:41163-70.
-
(2002)
J Biol Chem
, vol.277
, pp. 41163-41170
-
-
Courselaud, B.1
Pigeon, C.2
Inoue, Y.3
Inoue, J.4
Gonzalez, F.J.5
Leroyer, P.6
-
12
-
-
0034677467
-
Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter
-
Donovan A, Brownlie A, Zhou Y, Shepard J, Pratt SJ, Moynihan J, et al. Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter. Nature 2000;403:776-81.
-
(2000)
Nature
, vol.403
, pp. 776-781
-
-
Donovan, A.1
Brownlie, A.2
Zhou, Y.3
Shepard, J.4
Pratt, S.J.5
Moynihan, J.6
-
13
-
-
0033861745
-
A novel duodenal iron-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation
-
McKie AT, Marciani P, Rolfs A, Brennan K, Wehr K, Barrow D, et al. A novel duodenal iron-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation. Mol Cell 2000;5: 299-309.
-
(2000)
Mol Cell
, vol.5
, pp. 299-309
-
-
McKie, A.T.1
Marciani, P.2
Rolfs, A.3
Brennan, K.4
Wehr, K.5
Barrow, D.6
-
14
-
-
0034733635
-
A novel mammalian iron-regulated protein involved in intracellular iron metabolism
-
Abboud S, Haile DJ. A novel mammalian iron-regulated protein involved in intracellular iron metabolism. J Biol Chem 2000;275:19906-12.
-
(2000)
J Biol Chem
, vol.275
, pp. 19906-19912
-
-
Abboud, S.1
Haile, D.J.2
-
15
-
-
10844258104
-
Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization
-
Nemeth E, Tuttle MS, Powelson J, Vaughn MB, Donovan A, Ward DM et al. Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization. Science 2004;306: 2090-3.
-
(2004)
Science
, vol.306
, pp. 2090-2093
-
-
Nemeth, E.1
Tuttle, M.S.2
Powelson, J.3
Vaughn, M.B.4
Donovan, A.5
Ward, D.M.6
-
16
-
-
13844270538
-
Autosomal dominant hereditary hemochromatosis associated with a novel ferroportin mutation and unique clinical features
-
Sham RL, Phatak PD, West C, Lee P, Andrews C, Beutler E. Autosomal dominant hereditary hemochromatosis associated with a novel ferroportin mutation and unique clinical features. Blood Cells Mol Dis 2005;34:157-61.
-
(2005)
Blood Cells Mol Dis
, vol.34
, pp. 157-161
-
-
Sham, R.L.1
Phatak, P.D.2
West, C.3
Lee, P.4
Andrews, C.5
Beutler, E.6
-
17
-
-
23044508432
-
Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin
-
Drakesmith H, Schimanski LM, Ormerod E, Merryweather-Clarke AT, Viprakasit V, Edwards JP, et al. Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin. Blood 2005;106:1092-7.
-
(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
-
18
-
-
20844462571
-
In vitro functional analysis of human ferroportin (FPN) and hemochromatosis-associated FPN mutations
-
Schimanski LM, Drakesmith H, Merryweather-Clarke AT, Viprakasit V, Edwards JF, Sweetland E, et al. In vitro functional analysis of human ferroportin (FPN) and hemochromatosis-associated FPN mutations. Blood 2005;105:4096-102.
-
(2005)
Blood
, vol.105
, pp. 4096-4102
-
-
Schimanski, L.M.1
Drakesmith, H.2
Merryweather-Clarke, A.T.3
Viprakasit, V.4
Edwards, J.F.5
Sweetland, E.6
-
19
-
-
21144435281
-
The molecular basis of ferroportin-linked hemochromatosis
-
De Domenico I, Ward DM, Nemeth E, Vaughn MB, Musci G, Ganz T, et al. The molecular basis of ferroportin-linked hemochromatosis. Proc Natl Acad Sci USA 2005;102:8955-60.
-
(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
-
20
-
-
21544442328
-
Functional consequences of ferroportin 1 mutations
-
Liu XB, Yang F, Haile DJ. Functional consequences of ferroportin 1 mutations. Blood Cells Mol Dis 2005;35:33-46.
-
(2005)
Blood Cells Mol Dis
, vol.35
, pp. 33-46
-
-
Liu, X.B.1
Yang, F.2
Haile, D.J.3
-
21
-
-
27744466352
-
Lack of enterocyte iron accumulation in the ferroportin disease
-
Corradini E, Montosi G, Ferrara F, Caleffi A, Pignatti E, Barelli S, et al. Lack of enterocyte iron accumulation in the ferroportin disease. Blood Cells Mol Dis 2005; 35:315-8.
-
(2005)
Blood Cells Mol Dis
, vol.35
, pp. 315-318
-
-
Corradini, E.1
Montosi, G.2
Ferrara, F.3
Caleffi, A.4
Pignatti, E.5
Barelli, S.6
-
22
-
-
0027435586
-
Chediak-Higashi syndrome is not due to a defect in microtubule-based lysosomal mobility
-
Perou CM, Kaplan J. Chediak-Higashi syndrome is not due to a defect in microtubule-based lysosomal mobility. J Cell Sci 1993;106:99-107.
-
(1993)
J Cell Sci
, vol.106
, pp. 99-107
-
-
Perou, C.M.1
Kaplan, J.2
-
23
-
-
20444416123
-
The iron exporter ferroportin/Slc40a1 is essential for iron homeostasis
-
Donovan A, Lima CA, Pinkus JL, Pinkus GS, Zon LI, Robine S, et al. The iron exporter ferroportin/Slc40a1 is essential for iron homeostasis. Cell Metab 2005; 1:191-200.
-
(2005)
Cell Metab
, vol.1
, pp. 191-200
-
-
Donovan, A.1
Lima, C.A.2
Pinkus, J.L.3
Pinkus, G.S.4
Zon, L.I.5
Robine, S.6
-
24
-
-
13444252281
-
Iron release from macrophages after erythrophagocytosis is up-regulated by ferroportin 1 overexpression and down-regulated by hepcidin
-
Knutson MD, Oukka M, Koss LM, Aydemir F, Wessling-Resnick M. Iron release from macrophages after erythrophagocytosis is up-regulated by ferroportin 1 overexpression and down-regulated by hepcidin. Proc Natl Acad Sci USA 2005;102:1324-8.
-
(2005)
Proc Natl Acad Sci USA
, vol.102
, pp. 1324-1328
-
-
Knutson, M.D.1
Oukka, M.2
Koss, L.M.3
Aydemir, F.4
Wessling-Resnick, M.5
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