-
1
-
-
9344224529
-
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
-
Feder JN, Gnirke A, Thomas W, Tsuchihash⋮ Z, Ruddy DA, Basava A, Dormishian F, Domingo Jr. R, 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. 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
Tsuchihash, Z.4
Ruddy, D.A.5
Basava, A.6
Dormishian, F.7
Domingo R., Jr.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..
-
2
-
-
0032478524
-
Crystal structure of the hemochromatos s protein HFE and characterization of its interaction with transferrin receptor
-
Lebrón JA, Bennett MJ, Vaughn DE, Chirino AJ, Snow PM, Mintier GA, Feder JN, Bjorkman PJ. Crystal structure of the hemochromatos s protein HFE and characterization of its interaction with transferrin receptor. Cell 1998;93:111-123.
-
(1998)
Cell
, vol.93
, pp. 111-123
-
-
Lebrón, J.A.1
Bennett, M.J.2
Vaughn, D.E.3
Chirino, A.J.4
Snow, P.M.5
Mintier, G.A.6
Feder, J.N.7
Bjorkman, P.J.8
-
3
-
-
0034610781
-
Crystal structure of the hereditary haemochromatosis protein HFE complexed with transferrin receptor
-
Bennett MJ, Lebrón JA, Bjorkman PJ, Crystal Structure of the hereditary haemochromatosis protein HFE complexed with transferrin receptor Nature 2000;403:46-53.
-
(2000)
Nature
, vol.403
, pp. 46-53
-
-
Bennett, M.J.1
Lebrón, J.A.2
Bjorkman, P.J.3
-
4
-
-
0343266338
-
Hemochromatosis
-
HFE. MIM Number 235200, Johns Hopk ns University, Baltimore, MD
-
McKusick VA, Hemochromatosis; HFE. MIM Number 235200, URL: {http://www.ncbi.nlm.nih.gov/omim/} 1999 On-line Mendelian Inheritance in Man, Johns Hopk ns University, Baltimore, MD.
-
(1999)
On-line Mendelian Inheritance in Man
-
-
McKusick, V.A.1
-
6
-
-
0004241915
-
-
London, Oxford University Press
-
Sheldon JH. Haemochromatosis. London, Oxford University Press. 1935.
-
(1935)
Haemochromatosis
-
-
Sheldon, J.H.1
-
7
-
-
0026341755
-
Causes of iron overload
-
Bacon BR. Causes of iron overload. New Engl J Med 1992;326:126-127.
-
(1992)
New Engl J Med
, vol.326
, pp. 126-127
-
-
Bacon, B.R.1
-
8
-
-
0017698209
-
Idiopathic hemochromatosis - Demonstration of recessive transmission and early detection by family HLA typing
-
Simon M, Bourel M, Genetet B, Fauchet R, Idiopathic hemochromatosis - demonstration of recessive transmission and early detection by family HLA typing. New Eng J Med 1977;297:1017-1021.
-
(1977)
New Eng J Med
, vol.297
, pp. 1017-1021
-
-
Simon, M.1
Bourel, M.2
Genetet, B.3
Fauchet, R.4
-
9
-
-
17644434333
-
2-microglobulin interaction and cell surface expression
-
2-microglobulin interaction and cell surface expression. J Biol Chem 1997;272: 14025-14208.
-
(1997)
J Biol Chem
, vol.272
, pp. 14025-14208
-
-
Feder, J.N.1
Tsuchihashi, Z.2
Irrinki, A.3
Lee, V.K.4
Mapa, F.A.5
Morinkang, E.6
Prass, C.E.7
Starnes, S.M.8
Wolff, R.K.9
Parkkila, S.10
Sly, W.S.11
Schatzman, R.C.12
-
11
-
-
0032451073
-
Celtic origin of the C282Y mutation of hemochromatosis
-
Lucotte G. Celtic origin of the C282Y mutation of hemochromatosis. Blood Cells Mol Dis 1998;24:433-438.
-
(1998)
Blood Cells Mol Dis
, vol.24
, pp. 433-438
-
-
Lucotte, G.1
-
12
-
-
0030712463
-
Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis
-
Parkkila S, Waheed A, Britton RS, Bacon BR, Zhou XY, Tomatsu S, Fleming RE, Sly WS. Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis. Proc Natl Acad Sci USA 1997;94:13198-13202.
-
(1997)
Proc Natl Acad Sci USA
, vol.94
, pp. 13198-13202
-
-
Parkkila, S.1
Waheed, A.2
Britton, R.S.3
Bacon, B.R.4
Zhou, X.Y.5
Tomatsu, S.6
Fleming, R.E.7
Sly, W.S.8
-
13
-
-
0033574075
-
Association of HFE protein with transferrin receptor in crypt enterocytes of human duodenum
-
Waheed A, Parkkila S, Saarnio J, Fleming RE, Zhou XY, Tomatsu S, Britton RS, Bacon BR, Sly WS. Association of HFE protein with transferrin receptor in crypt enterocytes of human duodenum. Proc Natl Acad Sci USA 1999;96:1579-1584.
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, pp. 1579-1584
-
-
Waheed, A.1
Parkkila, S.2
Saarnio, J.3
Fleming, R.E.4
Zhou, X.Y.5
Tomatsu, S.6
Britton, R.S.7
Bacon, B.R.8
Sly, W.S.9
-
14
-
-
0031567095
-
The molecular mechanisms of the metabolism and transport of iron in normal and neoplastic cells
-
Richardson DR, Ponka P. The molecular mechanisms of the metabolism and transport of iron in normal and neoplastic cells. Biochimica Biophysica Acta 1997;1331:1-40.
-
(1997)
Biochimica Biophysica Acta
, vol.1331
, pp. 1-40
-
-
Richardson, D.R.1
Ponka, P.2
-
15
-
-
0030755366
-
Cloning and characterization of a mammalian proton-coupled metal-ion transporter
-
Gunshin H, Mackenzie B, Berger UV, Gunshin Y, Romero MF, Boron WF, Nussberger S, Gollan JL, Hediger MA. Cloning and characterization of a mammalian proton-coupled metal-ion transporter. Nature 1997;388: 482-488.
-
(1997)
Nature
, vol.388
, pp. 482-488
-
-
Gunshin, H.1
Mackenzie, B.2
Berger, U.V.3
Gunshin, Y.4
Romero, M.F.5
Boron, W.F.6
Nussberger, S.7
Gollan, J.L.8
Hediger, M.A.9
-
16
-
-
0030763856
-
Microcytic anaemia mice have a mutation in Nramp2, a candidate iron transporter gene
-
Fleming MD, Trenor CC, Su MA, Foernzler D, Beier DR, Dietrich WF, Andrews NC. Microcytic anaemia mice have a mutation in Nramp2, a candidate iron transporter gene. Nat Genet 1997;16:383-386.
-
(1997)
Nat Genet
, vol.16
, pp. 383-386
-
-
Fleming, M.D.1
Trenor, C.C.2
Su, M.A.3
Foernzler, D.4
Beier, D.R.5
Dietrich, W.F.6
Andrews, N.C.7
-
17
-
-
0032555601
-
Co-trafficking of HFE, a nonclassical major histocompatibility complex class I protein, with the transferrin receptor implies a role in intracellular iron regulation
-
Gross CN, Irrinki A, Feder JN, Enns CA. Co-trafficking of HFE, a nonclassical major histocompatibility complex class I protein, with the transferrin receptor implies a role in intracellular iron regulation. J Biol Chem 1998;273:22068-22074.
-
(1998)
J Biol Chem
, vol.273
, pp. 22068-22074
-
-
Gross, C.N.1
Irrinki, A.2
Feder, J.N.3
Enns, C.A.4
-
18
-
-
0033605595
-
The hereditary hemochromatosis protein, HFE, specifically regulates transferrin-mediated iron uptake in HeLa cells
-
Roy CN, Penny DM, Feder JN, Enns CA. The hereditary hemochromatosis protein, HFE, specifically regulates transferrin-mediated iron uptake in HeLa cells. J Biol Chem 1999;274:9022-9028.
-
(1999)
J Biol Chem
, vol.274
, pp. 9022-9028
-
-
Roy, C.N.1
Penny, D.M.2
Feder, J.N.3
Enns, C.A.4
-
19
-
-
0033585129
-
The hemochromatosis protein HFE competes with transferrin for binding to the transferrin receptor
-
Lebrón JA, West AP, Bjorkman PJ. The hemochromatosis protein HFE competes with transferrin for binding to the transferrin receptor. J Mol Biol 1999;294:239-246.
-
(1999)
J Mol Biol
, vol.294
, pp. 239-246
-
-
Lebrón, J.A.1
West, A.P.2
Bjorkman, P.J.3
-
20
-
-
0033020518
-
The transferrin receptor binding site on HFE, the Class I MHC-related protein mutated in hereditary hemochromatosis
-
Lebrón JA, Bjorkman PJ. The transferrin receptor binding site on HFE, the Class I MHC-related protein mutated in hereditary hemochromatosis. J Mol Biol 1999;289:1109-1118.
-
(1999)
J Mol Biol
, vol.289
, pp. 1109-1118
-
-
Lebrón, J.A.1
Bjorkman, P.J.2
-
21
-
-
0033595794
-
Crystal structure of the ectodomain of human transferrin receptor
-
Lawrence CM, Ray S, Babyonyshev M, Galluser R, Borhani DW, Harrison SC. Crystal structure of the ectodomain of human transferrin receptor. Science 1999;286:779-782.
-
(1999)
Science
, vol.286
, pp. 779-782
-
-
Lawrence, C.M.1
Ray, S.2
Babyonyshev, M.3
Galluser, R.4
Borhani, D.W.5
Harrison, S.C.6
-
22
-
-
13144282684
-
The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding
-
Feder JN, Penny DN, Irrinki A, Lee VK, Lebrón JA, Watson N, Tsuchihashi Z, Sigal E, Bjorkman PJ, Schatzman RC. The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc Natl Acad Sci USA 1998;95:1472-1477.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 1472-1477
-
-
Feder, J.N.1
Penny, D.N.2
Irrinki, A.3
Lee, V.K.4
Lebrón, J.A.5
Watson, N.6
Tsuchihashi, Z.7
Sigal, E.8
Bjorkman, P.J.9
Schatzman, R.C.10
-
23
-
-
0027452550
-
Regulating the fate of mRNA: The control of cellular iron metabolism
-
Klausner RD, Rouault TA, Harford JB. Regulating the fate of mRNA: the control of cellular iron metabolism. Cell 1993;72:19-28.
-
(1993)
Cell
, vol.72
, pp. 19-28
-
-
Klausner, R.D.1
Rouault, T.A.2
Harford, J.B.3
-
24
-
-
0032427653
-
Kupffer cell staining by an HFE-specific monoclonal antibody: Implications for hereditary haemochromatosis
-
Bastin JM, Jones M, O'Callaghan CA, Schimanski L. Mason DY, Townsend AR. Kupffer cell staining by an HFE-specific monoclonal antibody: implications for hereditary haemochromatosis. Br J Haematol 1998;103:931-941.
-
(1998)
Br J Haematol
, vol.103
, pp. 931-941
-
-
Bastin, J.M.1
Jones, M.2
O'Callaghan, C.A.3
Schimanski, L.4
Mason, D.Y.5
Townsend, A.R.6
-
25
-
-
0031002910
-
Immunohistochemistry of HLA-H, the protein defective in patients with hereditary hemochromatosis, reveals unique pattern of expression in gastrointestinal tract
-
Parkkila S, Waheed A, Britton RS, Feder JN, Tsuchihashi Z, Schatzman RC, Bacon BR, Sly WS. Immunohistochemistry of HLA-H, the protein defective in patients with hereditary hemochromatosis, reveals unique pattern of expression in gastrointestinal tract. Proc Natl Acad Sci USA 1997;94:2534-2539.
-
(1997)
Proc Natl Acad Sci USA
, vol.94
, pp. 2534-2539
-
-
Parkkila, S.1
Waheed, A.2
Britton, R.S.3
Feder, J.N.4
Tsuchihashi, Z.5
Schatzman, R.C.6
Bacon, B.R.7
Sly, W.S.8
-
26
-
-
0032189835
-
Iron release from human monocytes after erythrophagocytosis in vitro: An investigation in normal subjects and hereditary hemochromatosis patients
-
Moura E, Noordermeer MA, Verhoeven N, Verheul AF, Marx JJ. Iron release from human monocytes after erythrophagocytosis in vitro: an investigation in normal subjects and hereditary hemochromatosis patients. Blood 1998; 92:2511-2519.
-
(1998)
Blood
, vol.92
, pp. 2511-2519
-
-
Moura, E.1
Noordermeer, M.A.2
Verhoeven, N.3
Verheul, A.F.4
Marx, J.J.5
-
27
-
-
0034254794
-
Wild type HFE protein normalizes transferrin iron accumulation in macrophages from subjects with hereditary hemochromatosis
-
in press
-
Montosi G, Paglia P, Garuti C, Guzman CA, Bastin JM, Colombo MP, Pietrangelo A. Wild type HFE protein normalizes transferrin iron accumulation in macrophages from subjects with hereditary hemochromatosis. Blood 2000, in press.
-
(2000)
Blood
-
-
Montosi, G.1
Paglia, P.2
Garuti, C.3
Guzman, C.A.4
Bastin, J.M.5
Colombo, M.P.6
Pietrangelo, A.7
-
28
-
-
0032909207
-
Hephaestin, a ceruloplasmin homologue implicated in intestinal iron transport, is defective in the sla mouse
-
Vulpe CD, Kuo YM, Murphy TL, Cowley L, Askwith C, Libina N, Gitschier J, Anderson GJ. Hephaestin, a ceruloplasmin homologue implicated in intestinal iron transport, is defective in the sla mouse. Nat Genet 1999;21: 195-199.
-
(1999)
Nat Genet
, vol.21
, pp. 195-199
-
-
Vulpe, C.D.1
Kuo, Y.M.2
Murphy, T.L.3
Cowley, L.4
Askwith, C.5
Libina, N.6
Gitschier, J.7
Anderson, G.J.8
-
29
-
-
0034677467
-
Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter
-
Donovan A, Brownlie A, Zhou Y, Shepard J, Pratt SJ, Moynihan J, Paw BH, Drejer A, Barut B, Zapata A, Law TC, Brugnara C, Lux SE, Pinkus GS, Pinkus JL, Kingsley PD, Palis J, Fleming MD, Andrews NC, Zon LI. Positional cloning of zebrafish ferroportin1 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
Drejer, A.8
Barut, B.9
Zapata, A.10
Law, T.C.11
Brugnara, C.12
Lux, S.E.13
Pinkus, G.S.14
Pinkus, J.L.15
Kingsley, P.D.16
Palis, J.17
Fleming, M.D.18
Andrews, N.C.19
Zon, L.I.20
more..
-
30
-
-
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, Bomford A, Peters TJ, Farzaneh F, Hediger MA, Hentze MW, Simpson RJ. A novel duodenal iron-regulated transporter, IREG-1, implicated in the basolateral transfer of iron to the circulation. Molecular Cell 2000;5: 299-305.
-
(2000)
Molecular Cell
, vol.5
, pp. 299-305
-
-
McKie, A.T.1
Marciani, P.2
Rolfs, A.3
Brennan, K.4
Wehr, K.5
Barrow, D.6
Miret, S.7
Bomford, A.8
Peters, T.J.9
Farzaneh, F.10
Hediger, Ma.11
Hentze, M.W.12
Simpson, R.J.13
|