-
1
-
-
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, Totaro A, Gasparini P (2000) The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22. Nat Genet 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
Totaro, A.8
Gasparini, P.9
-
2
-
-
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, Domingo R Jr, Ellis MC, Fullan A, Hinton LM, Jones NL, Kimmel BE, Kronmal GS, Lauer P, Lee VK, Loeb DB, Mapa FA, McClelland E, Meyer NC, Mintier GA, Moeller N, Moore T, Morikang E, Prass CE, Quintana L, Starnes SM, Schatzman RC, Brunke KJ, Drayna DT, Risch NJ, Bacon BR, Wolff RK (1996) A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 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
Domingo Jr, R.8
Ellis, M.C.9
Fullan, A.10
Hinton, L.M.11
Jones, N.L.12
Kimmel, B.E.13
Kronmal, G.S.14
Lauer, P.15
Lee, V.K.16
Loeb, D.B.17
Mapa, F.A.18
McClelland, E.19
Meyer, N.C.20
Mintier, G.A.21
Moeller, N.22
Moore, T.23
Morikang, E.24
Prass, C.E.25
Quintana, L.26
Starnes, S.M.27
Schatzman, R.C.28
Brunke, K.J.29
Drayna, D.T.30
Risch, N.J.31
Bacon, B.R.32
Wolff, R.K.33
more..
-
3
-
-
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, Sly WS (2000) Transferrin receptor 2: continued expression in mouse liver in the face of iron overload and in hereditary hemochromatosis. Proc Natl Acad Sci USA 97:2214-2219
-
(2000)
Proc Natl Acad Sci USA
, 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
Sly, W.S.8
-
4
-
-
0037564038
-
Expression of hepcidin in hereditary hemochromatosis evidence for a regulation in response to the serum transferrin saturation and to non-transferrin-bound iron
-
Gehrke SG, Kulaksiz H, Herrmann T, Riedel HD, Bents K, Veltkamp C, Stremmel W (2003) Expression of hepcidin in hereditary hemochromatosis evidence for a regulation in response to the serum transferrin saturation and to non-transferrin-bound iron. Blood 102:371-376
-
(2003)
Blood
, vol.102
, pp. 371-376
-
-
Gehrke, S.G.1
Kulaksiz, H.2
Herrmann, T.3
Riedel, H.D.4
Bents, K.5
Veltkamp, C.6
Stremmel, W.7
-
5
-
-
10744224903
-
Iron overload in adult Hfe-deficient mice independent of changes in the steady-state expression of the duodenal iron transporters DMT1 and Ireg1/ferroportin
-
Herrmann T, Muckenthaler M, van der Hoeven F, Brennan K, Gehrke SG, Hubert N, Sergi C, Grone HJ, Kaiser I, Gosch I, Volkmann M, Riedel HD, Hentze MW, Stewart AF, Stremmel W (2004) Iron overload in adult Hfe-deficient mice independent of changes in the steady-state expression of the duodenal iron transporters DMT1 and Ireg1/ferroportin. J Mol Med 82:39-48
-
(2004)
J Mol Med
, vol.82
, pp. 39-48
-
-
Herrmann, T.1
Muckenthaler, M.2
van der Hoeven, F.3
Brennan, K.4
Gehrke, S.G.5
Hubert, N.6
Sergi, C.7
Grone, H.J.8
Kaiser, I.9
Gosch, I.10
Volkmann, M.11
Riedel, H.D.12
Hentze, M.W.13
Stewart, A.F.14
Stremmel, W.15
-
6
-
-
23644460325
-
A mouse model of juvenile hemochromatosis
-
Huang FW, Pinkus JL, Pinkus GS, Fleming MD, Andrews NC (2005) A mouse model of juvenile hemochromatosis. J Clin Invest 115:2187-2191
-
(2005)
J Clin Invest
, vol.115
, pp. 2187-2191
-
-
Huang, F.W.1
Pinkus, J.L.2
Pinkus, G.S.3
Fleming, M.D.4
Andrews, N.C.5
-
7
-
-
0033597780
-
Molecular cloning of transferrin receptor 2. A new member of the transferrin receptor-like family
-
Kawabata H, Yang R, Hirama T, Vuong PT, Kawano S, Gombart AF, Koeffler HP (1999) Molecular cloning of transferrin receptor 2. A new member of the transferrin receptor-like family. J Biol Chem 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
Koeffler, H.P.7
-
8
-
-
0034595856
-
Transferrin receptor 2-alpha supports cell growth both in iron-chelated cultured cells and in vivo
-
Kawabata H, Germain RS, Vuong PT, Nakamaki T, Said JW, Koeffler HP (2000) Transferrin receptor 2-alpha supports cell growth both in iron-chelated cultured cells and in vivo. J Biol Chem 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
-
9
-
-
19944427107
-
Expression of hepcidin is down-regulated in TfR2 mutant mice manifesting a phenotype of hereditary hemochromatosis
-
Kawabata H, Fleming RE, Gui D, Moon SY, Saitoh T, O'Kelly J, Umehara Y, Wano Y, Said JW, Koeffler HP (2005) Expression of hepcidin is down-regulated in TfR2 mutant mice manifesting a phenotype of hereditary hemochromatosis. Blood 105:376-381
-
(2005)
Blood
, vol.105
, pp. 376-381
-
-
Kawabata, H.1
Fleming, R.E.2
Gui, D.3
Moon, S.Y.4
Saitoh, T.5
O'Kelly, J.6
Umehara, Y.7
Wano, Y.8
Said, J.W.9
Koeffler, H.P.10
-
10
-
-
0036971525
-
Guanylin and functional coupling proteins in the human salivary glands and gland tumors: Expression, cellular localization, and target membrane domains
-
Kulaksiz H, Rehberg E, Stremmel W, Cetin Y (2002a) Guanylin and functional coupling proteins in the human salivary glands and gland tumors: expression, cellular localization, and target membrane domains. Am J Pathol 161:655-664
-
(2002)
Am J Pathol
, vol.161
, pp. 655-664
-
-
Kulaksiz, H.1
Rehberg, E.2
Stremmel, W.3
Cetin, Y.4
-
11
-
-
0037076264
-
Clara cell impact in air-side activation of CFTR in small pulmonary airways
-
Kulaksiz H, Schmid A, Honscheid M, Ramaswamy A, Cetin Y (2002b) Clara cell impact in air-side activation of CFTR in small pulmonary airways. Proc Natl Acad Sci USA 99:6796-6801
-
(2002)
Proc Natl Acad Sci USA
, vol.99
, pp. 6796-6801
-
-
Kulaksiz, H.1
Schmid, A.2
Honscheid, M.3
Ramaswamy, A.4
Cetin, Y.5
-
12
-
-
2342422913
-
Pro-hepcidin: Expression and cell specific localisation in the liver and its regulation in hereditary haemochromatosis, chronic renal insufficiency, and renal anaemia
-
Kulaksiz H, Gehrke SG, Janetzko A, Rost D, Bruckner T, Kallinowski B, Stremmel W (2004) Pro-hepcidin: expression and cell specific localisation in the liver and its regulation in hereditary haemochromatosis, chronic renal insufficiency, and renal anaemia. Gut 53:735-743
-
(2004)
Gut
, vol.53
, pp. 735-743
-
-
Kulaksiz, H.1
Gehrke, S.G.2
Janetzko, A.3
Rost, D.4
Bruckner, T.5
Kallinowski, B.6
Stremmel, W.7
-
13
-
-
27144459908
-
Competitive regulation of hepcidin mRNA by soluble and cell-associated hemojuvelin
-
Lin L, Goldberg YP, Ganz T (2005) Competitive regulation of hepcidin mRNA by soluble and cell-associated hemojuvelin. Blood 106:2884-2889
-
(2005)
Blood
, vol.106
, pp. 2884-2889
-
-
Lin, L.1
Goldberg, Y.P.2
Ganz, T.3
-
14
-
-
13544250486
-
Hepcidin is decreased in TFR2 hemochromatosis
-
Nemeth E, Roetto A, Garozzo G, Ganz T, Camaschella C (2005) Hepcidin is decreased in TFR2 hemochromatosis. Blood 105:1803-1806
-
(2005)
Blood
, vol.105
, pp. 1803-1806
-
-
Nemeth, E.1
Roetto, A.2
Garozzo, G.3
Ganz, T.4
Camaschella, C.5
-
15
-
-
9144252017
-
Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis
-
Papanikolaou G, Samuels ME, Ludwig EH, MacDonald ML, Franchini PL, Dube MP, Andres L, MacFarlane J, Sakellaropoulos N, Politou M, Nemeth E, Thompson J, Risler JK, Zaborowska C, Babakaiff R, Radomski CC, Pape TD, Davidas O, Christakis J, Brissot P, Lockitch G, Ganz T, Hayden MR, Goldberg YP (2004) Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. Nat Genet 36:77-82
-
(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
Andres, L.7
MacFarlane, J.8
Sakellaropoulos, N.9
Politou, M.10
Nemeth, E.11
Thompson, J.12
Risler, J.K.13
Zaborowska, C.14
Babakaiff, R.15
Radomski, C.C.16
Pape, T.D.17
Davidas, O.18
Christakis, J.19
Brissot, P.20
Lockitch, G.21
Ganz, T.22
Hayden, M.R.23
Goldberg, Y.P.24
more..
-
16
-
-
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, Camaschella C (2003) Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. Nat Genet 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
Camaschella, C.8
-
17
-
-
21044434748
-
First phenotypic description of transferrin receptor 2 knockout mouse, and the role of hepcidin
-
Wallace DF, Summerville L, Lusby PE, Subramaniam VN (2005) First phenotypic description of transferrin receptor 2 knockout mouse, and the role of hepcidin. Gut 54:980-986
-
(2005)
Gut
, vol.54
, pp. 980-986
-
-
Wallace, D.F.1
Summerville, L.2
Lusby, P.E.3
Subramaniam, V.N.4
-
18
-
-
0029855076
-
Histopathological evaluation of liver, pancreas, spleen, and heart from iron-overloaded Sprague-Dawley rats
-
Whittaker P, Hines FA, Robl MG, Dunkel VC (1996) Histopathological evaluation of liver, pancreas, spleen, and heart from iron-overloaded Sprague-Dawley rats. Toxicol Pathol 24:558-563
-
(1996)
Toxicol Pathol
, vol.24
, pp. 558-563
-
-
Whittaker, P.1
Hines, F.A.2
Robl, M.G.3
Dunkel, V.C.4
-
19
-
-
26644471267
-
Interaction of HJV with neogenin results in iron accumulation in HEK293 cells
-
Zhang AS, West AP Jr, Wyman AE, Bjorkman PJ, Enns CA (2005) Interaction of HJV with neogenin results in iron accumulation in HEK293 cells. J Biol Chem 280:33885-33894
-
(2005)
J Biol Chem
, vol.280
, pp. 33885-33894
-
-
Zhang, A.S.1
West Jr, A.P.2
Wyman, A.E.3
Bjorkman, P.J.4
Enns, C.A.5
|