-
2
-
-
0004241915
-
-
London: Oxford University Press
-
Sheldon J. Haemochromatosis. London: Oxford University Press, 1935.
-
(1935)
Haemochromatosis
-
-
Sheldon, J.1
-
3
-
-
0016848003
-
Letter: Idiopathic hemochromatosis associated with HL-A 3 tissular antigen
-
Simon M, Pawlotsky Y, Bourel M, Fauchet R, Genetet B. Letter: idiopathic hemochromatosis associated with HL-A 3 tissular antigen. Nouv Presse Med 1975;4:1432.
-
(1975)
Nouv Presse Med
, vol.4
, pp. 1432
-
-
Simon, M.1
Pawlotsky, Y.2
Bourel, M.3
Fauchet, R.4
Genetet, B.5
-
4
-
-
0023200271
-
A study of 609 HLA haplotypes marking for the hemochromatosis gene: (1) Mapping of the gene near the HLA-A locus and characters required to define a heterozygous population and (2) hypothesis concerning the underlying cause of hemochromatosis-HLA association
-
Simon M, Le Mignon L, Fauchet R, Yaouanq J, David V, Edan G, Bourel M. A study of 609 HLA haplotypes marking for the hemochromatosis gene: (1) mapping of the gene near the HLA-A locus and characters required to define a heterozygous population and (2) hypothesis concerning the underlying cause of hemochromatosis-HLA association. Am J Hum Genet 1987;41:89-105.
-
(1987)
Am J Hum Genet
, vol.41
, pp. 89-105
-
-
Simon, M.1
Le Mignon, L.2
Fauchet, R.3
Yaouanq, J.4
David, V.5
Edan, G.6
Bourel, M.7
-
5
-
-
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, Dormishian F, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. 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
Dormishian, F.7
-
6
-
-
0031957721
-
Heterogeneity of hemochromatosis in Italy
-
Piperno A, Sampietro M, Pietrangelo A, Arosio C, Lupica L, Montosi G, Vergani A, et al. Heterogeneity of hemochromatosis in Italy. Gastroenterology 1998;114:996-1002.
-
(1998)
Gastroenterology
, vol.114
, pp. 996-1002
-
-
Piperno, A.1
Sampietro, M.2
Pietrangelo, A.3
Arosio, C.4
Lupica, L.5
Montosi, G.6
Vergani, A.7
-
7
-
-
0031047769
-
Mutations in the MHC class I-like candidate gene for hemochromatosis in French patients
-
Borot N, Roth M, Malfroy L, Demangel C, Vinel JP, Pascal JP, Coppin H. Mutations in the MHC class I-like candidate gene for hemochromatosis in French patients. Immunogenetics 1997;45:320-324.
-
(1997)
Immunogenetics
, vol.45
, pp. 320-324
-
-
Borot, N.1
Roth, M.2
Malfroy, L.3
Demangel, C.4
Vinel, J.P.5
Pascal, J.P.6
Coppin, H.7
-
8
-
-
0032171541
-
Hemochromatosis 1998: Is one gene enough?
-
Pietrangelo A. Hemochromatosis 1998: is one gene enough? J Hepatol 1998;29:502-509.
-
(1998)
J Hepatol
, vol.29
, pp. 502-509
-
-
Pietrangelo, A.1
-
9
-
-
0028895749
-
A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans
-
Yoshida K, Furihata K, Takeda S, Nakamura A, Yamamoto K, Morita H, Hiyamuta S, et al. A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans. Nat Genet 1995;9:267-272.
-
(1995)
Nat Genet
, vol.9
, pp. 267-272
-
-
Yoshida, K.1
Furihata, K.2
Takeda, S.3
Nakamura, A.4
Yamamoto, K.5
Morita, H.6
Hiyamuta, S.7
-
10
-
-
0028903259
-
Aceruloplasminemia: Molecular characterization of this disorder of iron metabolism
-
Harris ZL, Takahashi Y, Miyajima H, Serizawa M, MacGillivray RT, Gitlin JD. Aceruloplasminemia: molecular characterization of this disorder of iron metabolism. Proc Natl Acad Sci U S A 1995;92:2539-2543.
-
(1995)
Proc Natl Acad Sci U S A
, vol.92
, pp. 2539-2543
-
-
Harris, Z.L.1
Takahashi, Y.2
Miyajima, H.3
Serizawa, M.4
MacGillivray, R.T.5
Gitlin, J.D.6
-
12
-
-
0034964604
-
A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload
-
Kato J, Fujikawa K, Kanda M, Fukuda N, Sasaki K, Takayama T, Kobune M, et al. A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload. Am J Hum Genet 2001;69: 191-197.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 191-197
-
-
Kato, J.1
Fujikawa, K.2
Kanda, M.3
Fukuda, N.4
Sasaki, K.5
Takayama, T.6
Kobune, M.7
-
13
-
-
0033517341
-
Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene
-
Pietrangelo A, Montosi G, Totaro A, Garuti C, Conte D, Cassanelli S, Fraquelli M, et al. Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene. N Engl J Med 1999;341: 725-732.
-
(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
Fraquelli, M.7
-
14
-
-
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, Trenor CC, et al. Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. J Clin Invest 2001; 108:619-623.
-
(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
Trenor, C.C.7
-
15
-
-
0034930197
-
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
-
Njajou OT, Vaessen N, Joosse M, Berghuis B, van Dongen JW, Breuning MH, Snijders PJ, et al. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. Nat Genet 2001;28:213-214.
-
(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
Snijders, P.J.7
-
16
-
-
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, Dooley JS. Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3). Blood 2002; 100:695-697.
-
(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
Dooley, J.S.7
-
17
-
-
0037100517
-
Novel mutation in ferroportin 1 is associated with autosomal dominant hemochromatosis
-
Wallace DF, Pedersen P, Dixon JL, Stephenson P, Searle JW, Powell LW, Subramaniam VN. Novel mutation in ferroportin 1 is associated with autosomal dominant hemochromatosis. Blood 2002;100:692-694.
-
(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
Subramaniam, V.N.7
-
18
-
-
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, Piga A, et al. A valine deletion of ferroportin 1: a common mutation in hemochromastosis type 4. Blood 2002;100:733-734.
-
(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
Piga, A.7
-
19
-
-
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, Paroni R, 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; 119:539-546.
-
(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
Paroni, R.7
-
20
-
-
0037860450
-
Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and three 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 three new ferroportin (slc11A3) mutations. Blood 2003;102:1904-1910.
-
(2003)
Blood
, vol.102
, pp. 1904-1910
-
-
Hetet, G.1
Devaux, I.2
Soufir, N.3
Grandchamp, B.4
Beaumont, C.5
-
21
-
-
0038536855
-
Autosomal dominant reticuloendothelial iron overload (HFE type 4) due to a new missense mutation in the ferroportin I gene (SLC11A3) in a large French-Canadian family
-
Rivard SR, Lanzara C, Grimard D, Carella M, Simard H, Ficarella R, Simard R, et al. Autosomal dominant reticuloendothelial iron overload (HFE type 4) due to a new missense mutation in the ferroportin I gene (SLC11A3) in a large French-Canadian family. Haematologica 2003;88: 824-826.
-
(2003)
Haematologica
, vol.88
, pp. 824-826
-
-
Rivard, S.R.1
Lanzara, C.2
Grimard, D.3
Carella, M.4
Simard, H.5
Ficarella, R.6
Simard, R.7
-
22
-
-
10744219904
-
Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload
-
Jouanolle AM, Douabin-Gicquel V, Halimi C, Loreal O, Fergelot P, Delacour T, de Lajarte-Thirouard AS, et al. Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload. J Hepatol 2003; 39:286-289.
-
(2003)
J Hepatol
, vol.39
, pp. 286-289
-
-
Jouanolle, A.M.1
Douabin-Gicquel, V.2
Halimi, C.3
Loreal, O.4
Fergelot, P.5
Delacour, T.6
De Lajarte-Thirouard, A.S.7
-
23
-
-
0034677467
-
Positional cloning of zebrafish ferroportin 1 identifies a conserved vertebrate iron exporter
-
Donovan A, Brownlie A, Zhou Y, Shepard J, Pratt SJ, Moynihan J, Paw BH, et al. Positional cloning of zebrafish ferroportin 1 identifies a conserved vertebrate iron exporter. Nature 2000;403:776-781.
-
(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
Paw, B.H.7
-
24
-
-
0033861745
-
A novel duodenal iron-regulated transporter, IREG 1, implicated in the basolateral transfer of iron to the circulation
-
McKie AT, Marciani P, Rolfs A, Brennan K, Wehr K, Barrow D, Miret S, et al. A novel duodenal iron-regulated transporter, IREG 1, 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
Miret, S.7
-
25
-
-
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;275:19906-19912.
-
(2000)
J Biol Chem
, vol.275
, pp. 19906-19912
-
-
Abboud, S.1
Haile, D.J.2
-
26
-
-
0035049419
-
Expression of the duodenal iron transporters divalent-metal transporter 1 and ferroportin 1 in iron deficiency and iron overload
-
Zoller H, Koch RO, Theurl I, Obrist P, Pietrangelo A, Montosi G, Haile DJ, et al. Expression of the duodenal iron transporters divalent-metal transporter 1 and ferroportin 1 in iron deficiency and iron overload. Gastroenterology 2001;120:1412-1419.
-
(2001)
Gastroenterology
, vol.120
, pp. 1412-1419
-
-
Zoller, H.1
Koch, R.O.2
Theurl, I.3
Obrist, P.4
Pietrangelo, A.5
Montosi, G.6
Haile, D.J.7
-
27
-
-
0344085880
-
Duodenal metal-transporter (DMT-1, NRAMP-2) expression in patients with hereditary haemochromatosis
-
Zoller H, Pietrangelo A, Vogel W, Weiss G. Duodenal metal-transporter (DMT-1, NRAMP-2) expression in patients with hereditary haemochromatosis. Lancet 1999;353:2120-2123.
-
(1999)
Lancet
, vol.353
, pp. 2120-2123
-
-
Zoller, H.1
Pietrangelo, A.2
Vogel, W.3
Weiss, G.4
-
28
-
-
0037131264
-
Regulation of reticuloendothelial iron transporter MTP1 (Slc11a3) by inflammation
-
Yang F, Liu XB, Quinones M, Melby PC, Ghio A, Haile DJ. Regulation of reticuloendothelial iron transporter MTP1 (Slc11a3) by inflammation. J Biol Chem 2002;277:39786-39791.
-
(2002)
J Biol Chem
, vol.277
, pp. 39786-39791
-
-
Yang, F.1
Liu, X.B.2
Quinones, M.3
Melby, P.C.4
Ghio, A.5
Haile, D.J.6
-
29
-
-
0035955440
-
Zinc regulates the function and expression of the iron transporters DMT1 and IREG1 in human intestinal Caco-2 cells
-
Yamaji S, Tennant J, Tandy S, Williams M, Singh Srai SK, Sharp P. Zinc regulates the function and expression of the iron transporters DMT1 and IREG1 in human intestinal Caco-2 cells. FEBS Lett 2001;507:137-141.
-
(2001)
FEBS Lett
, vol.507
, pp. 137-141
-
-
Yamaji, S.1
Tennant, J.2
Tandy, S.3
Williams, M.4
Singh Srai, S.K.5
Sharp, P.6
-
30
-
-
0036838765
-
Iron increases expression of iron-export protein MTP1 in lung cells
-
Yang F, Wang X, Haile DJ, Piantadosi CA, Ghio AJ. Iron increases expression of iron-export protein MTP1 in lung cells. Am J Physiol Lung Cell Mol Physiol 2002;283:932-939.
-
(2002)
Am J Physiol Lung Cell Mol Physiol
, vol.283
, pp. 932-939
-
-
Yang, F.1
Wang, X.2
Haile, D.J.3
Piantadosi, C.A.4
Ghio, A.J.5
-
31
-
-
0036218170
-
Iron treatment downregulates DMT1 and IREG1 mRNA expression in Caco-2 cells
-
Martini LA, Tchack L, Wood RJ. Iron treatment downregulates DMT1 and IREG1 mRNA expression in Caco-2 cells. J Nutr 2002;132:693-696.
-
(2002)
J Nutr
, vol.132
, pp. 693-696
-
-
Martini, L.A.1
Tchack, L.2
Wood, R.J.3
-
32
-
-
0242521527
-
The SLC11A3 gene, encoding fora main iron export protein, is controlled posttranscriptionally by iron in hepatic and intestinal cells
-
Lymboussaki A, Pignatti E, Montosi G, Garuti C, Haile DJ, Pietrangelo A. The SLC11A3 gene, encoding fora main iron export protein, is controlled posttranscriptionally by iron in hepatic and intestinal cells. J Hepatol 2003;39:710-715.
-
(2003)
J Hepatol
, vol.39
, pp. 710-715
-
-
Lymboussaki, A.1
Pignatti, E.2
Montosi, G.3
Garuti, C.4
Haile, D.J.5
Pietrangelo, A.6
-
33
-
-
0036727925
-
Hepcidin expression inversely correlates with the expression of duodenal iron transporters and iron absorption in rats
-
Frazer DM, Wilkins SJ, Becker EM, Vulpe CD, McKie AT, Trinder D, Anderson GJ. Hepcidin expression inversely correlates with the expression of duodenal iron transporters and iron absorption in rats. Gastroenterology 2002;123:835-844.
-
(2002)
Gastroenterology
, vol.123
, pp. 835-844
-
-
Frazer, D.M.1
Wilkins, S.J.2
Becker, E.M.3
Vulpe, C.D.4
McKie, A.T.5
Trinder, D.6
Anderson, G.J.7
-
34
-
-
0027990266
-
Excess iron into hepatocytes is required for activation of collagen type I gene during experimental siderosis
-
Gualdi R, Casalgrandi G, Montosi G, Ventura E, Pietrangelo A. Excess iron into hepatocytes is required for activation of collagen type I gene during experimental siderosis. Gastroenterology 1994;107:1118-1124.
-
(1994)
Gastroenterology
, vol.107
, pp. 1118-1124
-
-
Gualdi, R.1
Casalgrandi, G.2
Montosi, G.3
Ventura, E.4
Pietrangelo, A.5
-
35
-
-
10744219904
-
Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload
-
Jouanolle AM, Douabin-Gicquel V, Halimi C, Loreal O, Fergelot P, Delacour T, de Lajarte-Thirouard AS, et al. Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload. J Hepatol 2003; 39:286-289.
-
(2003)
J Hepatol
, vol.39
, pp. 286-289
-
-
Jouanolle, A.M.1
Douabin-Gicquel, V.2
Halimi, C.3
Loreal, O.4
Fergelot, P.5
Delacour, T.6
De Lajarte-Thirouard, A.S.7
-
36
-
-
0028881134
-
Mutation in the iron responsive clement of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract
-
Beaumont C, Leneuve P, Devaux I, Scoazec JY, Berthier M, Loiseau MN, Grandchamp B, et al. Mutation in the iron responsive clement of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract. Nat Genet 1995;11:444-446.
-
(1995)
Nat Genet
, vol.11
, pp. 444-446
-
-
Beaumont, C.1
Leneuve, P.2
Devaux, I.3
Scoazec, J.Y.4
Berthier, M.5
Loiseau, M.N.6
Grandchamp, B.7
-
37
-
-
0028788201
-
Molecular basis for the recently described hereditary hyperferritinemia-cataract syndrome: A mutation in the iron-responsive element of ferritin L-subunit gene (the "Verona mutation")
-
Girelli D, Corrocher R, Bisceglia L, Olivieri O, De Franceschi L, Zelante L, Gasparini P. Molecular basis for the recently described hereditary hyperferritinemia-cataract syndrome: a mutation in the iron-responsive element of ferritin L-subunit gene (the "Verona mutation"). Blood 1995;86: 4050-4053.
-
(1995)
Blood
, vol.86
, pp. 4050-4053
-
-
Girelli, D.1
Corrocher, R.2
Bisceglia, L.3
Olivieri, O.4
De Franceschi, L.5
Zelante, L.6
Gasparini, P.7
-
38
-
-
0031028026
-
A new syndrome of liver iron overload with normal transferrin saturation
-
Moirand R, Mortaji AM, Loreal O, Paillard F, Brissot P, Deugnier Y. A new syndrome of liver iron overload with normal transferrin saturation. Lancet 1997;349:95-97.
-
(1997)
Lancet
, vol.349
, pp. 95-97
-
-
Moirand, R.1
Mortaji, A.M.2
Loreal, O.3
Paillard, F.4
Brissot, P.5
Deugnier, Y.6
-
39
-
-
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, Majorano N, et al. The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22. Nat Genet 2000;25:14-15.
-
(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
Majorano, N.7
-
40
-
-
0033597780
-
Molecular cloning of transferrin receptor 2. A4 new member of the transferrin receptor-like family
-
Kawabata H, Yang R, Hirama T, Vuong PT, Kawano S, Gombart AF, Koeffter HP. Molecular cloning of transferrin receptor 2. A4 new member of the transferrin receptor-like family. J Biol Chem 1999;274:20826-20832.
-
(1999)
J Biol Chem
, vol.274
, pp. 20826-20832
-
-
Kawabata, H.1
Yang, R.2
Hirama, T.3
Vuong, P.T.4
Kawano, S.5
Gombart, A.F.6
Koeffter, H.P.7
-
41
-
-
0035353167
-
New mutations inactivating transferrin receptor 2 in hemochromatosis type 3
-
Roetto A, Totaro A, Piperno A, Piga A, Longo F, Garozzo G, Cali A, et al. New mutations inactivating transferrin receptor 2 in hemochromatosis type 3. Blood 2001;97:2555-2560.
-
(2001)
Blood
, vol.97
, pp. 2555-2560
-
-
Roetto, A.1
Totaro, A.2
Piperno, A.3
Piga, A.4
Longo, F.5
Garozzo, G.6
Cali, A.7
-
42
-
-
0036683019
-
Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: Identification of a novel TfR2 mutation
-
Mattman A, Huntsman D, Lockitch G, Langlois S, Buskard N, Ralston D, Butterfield Y, et al. Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation. Blood 2002;100:1075-1077.
-
(2002)
Blood
, vol.100
, pp. 1075-1077
-
-
Mattman, A.1
Huntsman, D.2
Lockitch, G.3
Langlois, S.4
Buskard, N.5
Ralston, D.6
Butterfield, Y.7
-
43
-
-
0043170776
-
AVAQ 594-597 deletion of the TfR2 gene in a Japanese family with hemochromatosis
-
Hattori A, Wakusawa S, Hayashi H, Harashima A, Sauae F, Kawanaka M, Yamada G, et al. AVAQ 594-597 deletion of the TfR2 gene in a Japanese family with hemochromatosis. Hepatol Res 2003;26:154-156.
-
(2003)
Hepatol Res
, vol.26
, pp. 154-156
-
-
Hattori, A.1
Wakusawa, S.2
Hayashi, H.3
Harashima, A.4
Sauae, F.5
Kawanaka, M.6
Yamada, G.7
-
44
-
-
0035525741
-
Expression of transferrin receptor 2 in normal and neoplastic hematopoietic cells
-
Kawabata H, Nakamaki T, Ikonomi P, Smith RD, Germain RS, Koeffler HP. Expression of transferrin receptor 2 in normal and neoplastic hematopoietic cells. Blood 2001;98:2714-2719.
-
(2001)
Blood
, vol.98
, pp. 2714-2719
-
-
Kawabata, H.1
Nakamaki, T.2
Ikonomi, P.3
Smith, R.D.4
Germain, R.S.5
Koeffler, H.P.6
-
45
-
-
0034531651
-
Iron regulatory proteins in pathobiology
-
Cairo G, Pietrangelo A. Iron regulatory proteins in pathobiology. Biochem J 2000;352:241-250.
-
(2000)
Biochem J
, vol.352
, pp. 241-250
-
-
Cairo, G.1
Pietrangelo, A.2
-
46
-
-
0034595856
-
Transferrin receptor 2-α supports cell growth both in iron-chelated cultured cells and in vivo
-
Kawabata H, Germain RS, Vuong PT, Nakamaki T, Said JW, Koeffler HP. Transferrin receptor 2-α supports cell growth both in iron-chelated cultured cells and in vivo. J Biol Chem 2000;275:16618-16625.
-
(2000)
J Biol Chem
, vol.275
, pp. 16618-16625
-
-
Kawabata, H.1
Germain, R.S.2
Vuong, P.T.3
Nakamaki, T.4
Said, J.W.5
Koeffler, H.P.6
-
47
-
-
0037343705
-
Transferrin receptor 2: A new molecule in iron metabolism
-
Trinder D, Baker E. Transferrin receptor 2: a new molecule in iron metabolism. Int J Biochem Cell Biol 2003;35:292-296.
-
(2003)
Int J Biochem Cell Biol
, vol.35
, pp. 292-296
-
-
Trinder, D.1
Baker, E.2
-
48
-
-
0034623930
-
Comparison of the interactions of transferrin receptor and transferrin receptor 2 with transferrin and the hereditary hemochromatosis protein HFE
-
West AP Jr, Bennett MJ, Sellers VM, Andrews NC, Enns CA, Bjorkman PJ. Comparison of the interactions of transferrin receptor and transferrin receptor 2 with transferrin and the hereditary hemochromatosis protein HFE. J Biol Chem 2000;275:38135-38138.
-
(2000)
J Biol Chem
, vol.275
, pp. 38135-38138
-
-
West Jr., A.P.1
Bennett, M.J.2
Sellers, V.M.3
Andrews, N.C.4
Enns, C.A.5
Bjorkman, P.J.6
-
49
-
-
0027944830
-
Two saturable mechanisms of iron uptake from transferrin in human melanoma cells: The effect of transferrin concentration, chelators, and metabolic probes on transferrin and iron uptake
-
Richardson DR, Baker E. Two saturable mechanisms of iron uptake from transferrin in human melanoma cells: the effect of transferrin concentration, chelators, and metabolic probes on transferrin and iron uptake. J Cell Physiol 1994;161:160-168.
-
(1994)
J Cell Physiol
, vol.161
, pp. 160-168
-
-
Richardson, D.R.1
Baker, E.2
-
50
-
-
0036678091
-
Targeted mutagenesis of the murine transferrin receptor-2 gene produces hemochromatosis
-
Fleming RE, Ahmann JR, Migas MC, Waheed A, Koeffler HP, Kawabata H, Britton RS, et al. Targeted mutagenesis of the murine transferrin receptor-2 gene produces hemochromatosis. Proc Natl Acad Sci U S A 2002; 99:10653-10658.
-
(2002)
Proc Natl Acad Sci U S A
, vol.99
, pp. 10653-10658
-
-
Fleming, R.E.1
Ahmann, J.R.2
Migas, M.C.3
Waheed, A.4
Koeffler, H.P.5
Kawabata, H.6
Britton, R.S.7
-
51
-
-
0034007995
-
Transferrin receptor 2: Continued expression in mouse liver in the face of iron overload and in hereditary hemochromatosis
-
Fleming RE, Migas MC, Holden CC, Waheed A, Britton RS, Tomatsu S, Bacon BR, et al. Transferrin receptor 2: continued expression in mouse liver in the face of iron overload and in hereditary hemochromatosis. Proc Natl Acad Sci U S A 2000;97:2214-2219.
-
(2000)
Proc Natl Acad Sci U S A
, vol.97
, pp. 2214-2219
-
-
Fleming, R.E.1
Migas, M.C.2
Holden, C.C.3
Waheed, A.4
Britton, R.S.5
Tomatsu, S.6
Bacon, B.R.7
-
52
-
-
0036086314
-
Physiology of iron transport and the hemochromatosis gene
-
Pietrangelo A. Physiology of iron transport and the hemochromatosis gene. Am J Physiol Gastrointest Liver Physiol 2002;282:G403-G414.
-
(2002)
Am J Physiol Gastrointest Liver Physiol
, vol.282
-
-
Pietrangelo, A.1
-
53
-
-
0037406254
-
Co-localization of the mammalian hemochromatosis gene product (HFE) and a newly identified transferrin receptor (TfR2) in intestinal tissue and cells
-
Griffiths WJ, Cox TM. Co-localization of the mammalian hemochromatosis gene product (HFE) and a newly identified transferrin receptor (TfR2) in intestinal tissue and cells. J Histochem Cytochem 2003;1:613-624.
-
(2003)
J Histochem Cytochem
, vol.1
, pp. 613-624
-
-
Griffiths, W.J.1
Cox, T.M.2
-
54
-
-
0036242163
-
Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene
-
Girelli D, Bozzini C, Roetro A, Alberti F, Daraio F, Colombari R, Olivieri O, et al. Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene. Gastroenterology 2002; 122:1295-1302.
-
(2002)
Gastroenterology
, vol.122
, pp. 1295-1302
-
-
Girelli, D.1
Bozzini, C.2
Roetro, A.3
Alberti, F.4
Daraio, F.5
Colombari, R.6
Olivieri, O.7
-
55
-
-
0018427678
-
Idiopathic hemochromatosis in a young female. A case study and review of the syndrome in young people
-
Lamon JM, Marynick SP, Roseblatt R, Donnelly S. Idiopathic hemochromatosis in a young female. A case study and review of the syndrome in young people. Gastroenterology 1979;76:178-183.
-
(1979)
Gastroenterology
, vol.76
, pp. 178-183
-
-
Lamon, J.M.1
Marynick, S.P.2
Roseblatt, R.3
Donnelly, S.4
-
56
-
-
20244388240
-
Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis
-
Roetto A, Papanikolaou G, Politou M, Alberti F, Girelli D, Christakis J, Loukopoulos D, et al. Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. Nat Genet 2003;33:21-22.
-
(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
Loukopoulos, D.7
-
57
-
-
0033358675
-
Juvenile hemochromatosis locus maps to chromosome 1q
-
Roetto A, Totaro A, Cazzola M, Cicilano M, Bosio S, D'Ascola G, Carella M, et al. Juvenile hemochromatosis locus maps to chromosome 1q. Am J Hum Genet 1999;64:1388-1393.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1388-1393
-
-
Roetto, A.1
Totaro, A.2
Cazzola, M.3
Cicilano, M.4
Bosio, S.5
D'Ascola, G.6
Carella, M.7
-
58
-
-
1842748380
-
Mutations in HFE 2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis
-
In press
-
Papanikolaou G, Ludwig EH, Andres L, MacFarlene J, et al. Mutations in HFE 2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. Nat Genet (In press).
-
Nat Genet
-
-
Papanikolaou, G.1
Ludwig, E.H.2
Andres, L.3
MacFarlene, J.4
-
59
-
-
0034284595
-
LEAP-1, a novel highly disulfide-bonded human peptide, exhibits antimicrobial activity
-
Krause A, Neitz S, Magert HJ, Schulz A, Forssmann WG, Schulz-Knappe P, Adermann K. LEAP-1, a novel highly disulfide-bonded human peptide, exhibits antimicrobial activity. FEBS Lett 2000;480:147-150.
-
(2000)
FEBS Lett
, vol.480
, pp. 147-150
-
-
Krause, A.1
Neitz, S.2
Magert, H.J.3
Schulz, A.4
Forssmann, W.G.5
Schulz-Knappe, P.6
Adermann, K.7
-
60
-
-
0035896642
-
Hepcidin, a urinary antimicrobial peptide synthesized in the liver
-
Park CH, Valore EV, Waring AJ, Ganz T. Hepcidin, a urinary antimicrobial peptide synthesized in the liver. J Biol Chem 2001;276:7806-7810.
-
(2001)
J Biol Chem
, vol.276
, pp. 7806-7810
-
-
Park, C.H.1
Valore, E.V.2
Waring, A.J.3
Ganz, T.4
-
61
-
-
0035896581
-
A new mouse liver-specific gene, cncoding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during iron overload
-
Pigeon C, Ilyin G, Courselaud B, Leroyer P, Turlin B, Brissot P, Loreal O. A new mouse liver-specific gene, cncoding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during iron overload. J Biol Chem 2001;276:7811-7819.
-
(2001)
J Biol Chem
, vol.276
, pp. 7811-7819
-
-
Pigeon, C.1
Ilyin, G.2
Courselaud, B.3
Leroyer, P.4
Turlin, B.5
Brissot, P.6
Loreal, O.7
-
62
-
-
0035902605
-
Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice
-
Nicolas G, Bennoun M, Devaux I, Beaumont C, Grandchamp B, Kahn A, Vaulont S. Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice. Proc Natl Acad Sci U S A 2001;98:8780-8785.
-
(2001)
Proc Natl Acad Sci U S A
, vol.98
, pp. 8780-8785
-
-
Nicolas, G.1
Bennoun, M.2
Devaux, I.3
Beaumont, C.4
Grandchamp, B.5
Kahn, A.6
Vaulont, S.7
-
63
-
-
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, Gilot D, 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;277:41163-41170.
-
(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
Gilot, D.7
-
64
-
-
0037007064
-
Severe iron deficiency anemia in transgenic mice expressing liver hepcidin
-
Nicolas G, Bennoun M, Porteu A, Mativet S, Beaumout C, Grandchamp B, Sirito M, et al. Severe iron deficiency anemia in transgenic mice expressing liver hepcidin. Proc Natl Acad Sci U S A 2002;99:4596-4601.
-
(2002)
Proc Natl Acad Sci U S A
, vol.99
, pp. 4596-4601
-
-
Nicolas, G.1
Bennoun, M.2
Porteu, A.3
Mativet, S.4
Beaumout, C.5
Grandchamp, B.6
Sirito, M.7
-
65
-
-
0036791486
-
The gene encoding the iron regulatory peptide hepcidin is regulated by anemia, hypoxia, and inflammation
-
Nicolas G, Chauvet C, Viatte L, Danan JL, Bigard X, Devaux I, Beaumont C, et al. The gene encoding the iron regulatory peptide hepcidin is regulated by anemia, hypoxia, and inflammation. J Clin Invest 2002;110:1037-1044.
-
(2002)
J Clin Invest
, vol.110
, pp. 1037-1044
-
-
Nicolas, G.1
Chauvet, C.2
Viatte, L.3
Danan, J.L.4
Bigard, X.5
Devaux, I.6
Beaumont, C.7
-
66
-
-
0037460697
-
Disrupted hepcidin regulation in HFE-associated haemochromatosis and the liver as a regulator of body iron homoeostasis
-
Bridle KR, Frazer DM, Wilkins SJ, Dixon JL, Purdie DM, Crawford DH, Subramaniam VN, et al. Disrupted hepcidin regulation in HFE-associated haemochromatosis and the liver as a regulator of body iron homoeostasis. Lancet 2003;361:669-673.
-
(2003)
Lancet
, vol.361
, pp. 669-673
-
-
Bridle, K.R.1
Frazer, D.M.2
Wilkins, S.J.3
Dixon, J.L.4
Purdie, D.M.5
Crawford, D.H.6
Subramaniam, V.N.7
-
67
-
-
0037564038
-
Expression of hepcidin in hereditary hemochromatosis: Evidence for a regulation in response to serum transferrin saturation and non-transferrin-bound iron
-
Gehrke SG, Kulaksiz H, Herrman T, Riedel HD, Bents K, Veltkamp C, Stremmel W. Expression of hepcidin in hereditary hemochromatosis: evidence for a regulation in response to serum transferrin saturation and non-transferrin-bound iron. Blood 2003;102:371-376.
-
(2003)
Blood
, vol.102
, pp. 371-376
-
-
Gehrke, S.G.1
Kulaksiz, H.2
Herrman, T.3
Riedel, H.D.4
Bents, K.5
Veltkamp, C.6
Stremmel, W.7
-
68
-
-
0037847496
-
Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis
-
Nicolas G, Viatte L, Lou DQ, Bennoun M, Beaumont C, Kahn A, Andrews NC, et al. Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis. Nat Genet 2003;34:97-101.
-
(2003)
Nat Genet
, vol.34
, pp. 97-101
-
-
Nicolas, G.1
Viatte, L.2
Lou, D.Q.3
Bennoun, M.4
Beaumont, C.5
Kahn, A.6
Andrews, N.C.7
-
69
-
-
0021014865
-
Juvenile idiopathic haemochromatosis: A life-threatening disorder presenting as hypogonadotropic hypogonadism
-
Cazzola M, Ascari E, Barosi G, Claudiani G, Dacco M, Kaltwasser JP, Panaiotopoulos N, et al. Juvenile idiopathic haemochromatosis: a life-threatening disorder presenting as hypogonadotropic hypogonadism. Hum Genet 1983;65:149-154.
-
(1983)
Hum Genet
, vol.65
, pp. 149-154
-
-
Cazzola, M.1
Ascari, E.2
Barosi, G.3
Claudiani, G.4
Dacco, M.5
Kaltwasser, J.P.6
Panaiotopoulos, N.7
-
70
-
-
0034144525
-
Clinical and molecular aspects of juvenile hemochromatosis in Saguenay-Lac-Saint-Jean (Quebec, Canada)
-
Rivard SR, Mura C, Simard H, Simard R, Grimard D, Le Gac G, Raguenes O, et al. Clinical and molecular aspects of juvenile hemochromatosis in Saguenay-Lac-Saint-Jean (Quebec, Canada). Blood Cell Mol Dis 2000;26:10-14.
-
(2000)
Blood Cell Mol Dis
, vol.26
, pp. 10-14
-
-
Rivard, S.R.1
Mura, C.2
Simard, H.3
Simard, R.4
Grimard, D.5
Le Gac, G.6
Raguenes, O.7
-
71
-
-
0036075097
-
Natural history of juvenile haemochromatosis
-
De Gobbi M, Roetto A, Piperno A, Mariani R, Alberti F, Papanikolaou G, Politou M, et al. Natural history of juvenile haemochromatosis. Br J Haematol 2002;117:973-979.
-
(2002)
Br J Haematol
, vol.117
, pp. 973-979
-
-
De Gobbi, M.1
Roetto, A.2
Piperno, A.3
Mariani, R.4
Alberti, F.5
Papanikolaou, G.6
Politou, M.7
-
72
-
-
10744232713
-
Iron overload in Africans and African-Americans and a common mutation in the scl40a1 (ferroportin 1) gene
-
Gordeuk VR, Caleffi A, Corradini E, Ferrara F, Jones RA, Castro O, Onyekwere O, et al. Iron overload in Africans and African-Americans and a common mutation in the scl40a1 (ferroportin 1) gene. Blood Cell Mol Dis 2003;31:299-304.
-
(2003)
Blood Cell Mol Dis
, vol.31
, pp. 299-304
-
-
Gordeuk, V.R.1
Caleffi, A.2
Corradini, E.3
Ferrara, F.4
Jones, R.A.5
Castro, O.6
Onyekwere, O.7
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