-
1
-
-
0033150066
-
Two novel missense mutations of the HFE gene (1105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands
-
Barton, J. C., R. Sawada-Hirai, B. E. Rothenberg, R. T. Acton: Two novel missense mutations of the HFE gene (1105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands. Blood Cells Mol. Dis. 25 (1999), 147-155.
-
(1999)
Blood Cells Mol. Dis.
, vol.25
, pp. 147-155
-
-
Barton, J.C.1
Sawada-Hirai, R.2
Rothenberg, B.E.3
Acton, R.T.4
-
2
-
-
0031037009
-
Genetic irony beyond haemochromatosis: Clinical effects of HLA-H mutations
-
Beutler, E.: Genetic irony beyond haemochromatosis: clinical effects of HLA-H mutations. Lancet 349 (1997), 296-297.
-
(1997)
Lancet
, vol.349
, pp. 296-297
-
-
Beutler, E.1
-
3
-
-
0030827084
-
The significance of the 187G (H63D) mutation in hemochromatosis
-
Beutler, E.: The significance of the 187G (H63D) mutation in hemochromatosis. Am. J. Hum. Genet. 61 (1997), 762-764.
-
(1997)
Am. J. Hum. Genet.
, vol.61
, pp. 762-764
-
-
Beutler, E.1
-
4
-
-
0030839925
-
HLA-H mutations in the Ashkenazi Jewish population
-
Beutler, E., T. Gelbart: HLA-H mutations in the Ashkenazi Jewish population. Blood Cells Mol. Dis. 23 (1997), 95-98.
-
(1997)
Blood Cells Mol. Dis.
, vol.23
, pp. 95-98
-
-
Beutler, E.1
Gelbart, T.2
-
5
-
-
0031132040
-
Rapid diagnosis of the HLA-H gene Cys 282 Tyr mutation in hemochromatosis by polymerase chain reaction - A very rare mutation in the Chinese population
-
Chang, J. G., T. C. Liu, S. F. Lin: Rapid diagnosis of the HLA-H gene Cys 282 Tyr mutation in hemochromatosis by polymerase chain reaction - a very rare mutation in the Chinese population. Blood 89 (1997), 3492-3493.
-
(1997)
Blood
, vol.89
, pp. 3492-3493
-
-
Chang, J.G.1
Liu, T.C.2
Lin, S.F.3
-
6
-
-
18144444007
-
Predominance of the HLA-H Cys282Tyr mutation in Austrian patients with genetic haemochromatosis
-
Datz, C., M. R. Lalloz, W. Vogel, I. Graziadei, F. Hackl, G. Vautier, D. M. Layton, T. Maier-Dobersberger, P. Ferenci, E. Penner, F. Sandhofer, A. Bomford, B. Paulweber: Predominance of the HLA-H Cys282Tyr mutation in Austrian patients with genetic haemochromatosis. J. Hepatol. 27 (1997), 773-779.
-
(1997)
J. Hepatol.
, vol.27
, pp. 773-779
-
-
Datz, C.1
Lalloz, M.R.2
Vogel, W.3
Graziadei, I.4
Hackl, F.5
Vautier, G.6
Layton, D.M.7
Maier-Dobersberger, T.8
Ferenci, P.9
Penner, E.10
Sandhofer, F.11
Bomford, A.12
Paulweber, B.13
-
7
-
-
0028176811
-
Iron overload in beta 2-microglobulin-deficient mice
-
de Sousa, M., R. Reimao, R. Lacerda, P. Hugo, S. H. Kaufmann, G. Porto: Iron overload in beta 2-microglobulin-deficient mice. Immunol. Lett. 39 (1994), 105-111.
-
(1994)
Immunol. Lett.
, vol.39
, pp. 105-111
-
-
De Sousa, M.1
Reimao, R.2
Lacerda, R.3
Hugo, P.4
Kaufmann, S.H.5
Porto, G.6
-
8
-
-
9344224529
-
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
-
Feder, J. N., A. Gnirke, W. Thomas, Z. Tsuchihashi, D. A. Ruddy, A. Basava, F. Dormishian, R. Jr Domingo, M. C. Ellis, A. Fullan, L. M. Hinton, N. L. Jones, B. E. Kimmel, G. S. Kronmal, P. Lauer, V. K. Lee, D. B. Loeb, F. A. Mapa, E. McClelland, N. C. Meyer, G. A. Mintier, N. Moeller, T. Moore, E. Morikang, R. K. Wolff: 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
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
Wolff, R.K.25
more..
-
9
-
-
13144282684
-
The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding
-
Feder, J. N., D. M. Penny, A. Irrinki, V. K. Lee, J. A. Lebron, N. Watson, Z. Tsuchihashi, E. Sigal, P. J Bjorkman, R. C. Schatzman: The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc. Natl. Acad. Sci. U.S.A. 95 (1998), 1472-1477.
-
(1998)
Proc. Natl. Acad. Sci. U.S.A.
, vol.95
, pp. 1472-1477
-
-
Feder, J.N.1
Penny, D.M.2
Irrinki, A.3
Lee, V.K.4
Lebron, J.A.5
Watson, N.6
Tsuchihashi, Z.7
Sigal, E.8
Bjorkman, P.J.9
Schatzman, R.C.10
-
10
-
-
17644434333
-
The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression
-
Feder, J. N., Z. Tsuchihashi, A. Irrinki, V. K. Lee, F. A. Mapa, E. Morikang, C. E. Prass, S. M. Starnes, R. K. Wolff, S. Parkkila, W. S. Sly, R. C Schatzman: The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression. J. Biol. Chem. 272 (1997), 14025-14028.
-
(1997)
J. Biol. Chem.
, vol.272
, pp. 14025-14028
-
-
Feder, J.N.1
Tsuchihashi, Z.2
Irrinki, A.3
Lee, V.K.4
Mapa, F.A.5
Morikang, 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
-
-
0031890144
-
HFE codon 63/282 (H63D/C282Y) dimorphism in German patients with genetic hemochromatosis
-
Gottschalk, R., C. Seidl, T. Loffler, E. Seifried, D. Hoelzer, J. P. Kaltwasser: HFE codon 63/282 (H63D/C282Y) dimorphism in German patients with genetic hemochromatosis. Tissue Antigens. 51 (1998), 270-275.
-
(1998)
Tissue Antigens
, vol.51
, pp. 270-275
-
-
Gottschalk, R.1
Seidl, C.2
Loffler, T.3
Seifried, E.4
Hoelzer, D.5
Kaltwasser, J.P.6
-
12
-
-
0030294028
-
Haemochromatosis and HLA-H
-
Jazwinska, E. C., L. M. Cullen, F. Busfield, W. R. Pyper, S. I. Webb, L. W. Powell, C. P. Morris, T. P. Walsh: Haemochromatosis and HLA-H. Nat. Genet. 14 (1996), 249-251.
-
(1996)
Nat. Genet.
, vol.14
, pp. 249-251
-
-
Jazwinska, E.C.1
Cullen, L.M.2
Busfield, F.3
Pyper, W.R.4
Webb, S.I.5
Powell, L.W.6
Morris, C.P.7
Walsh, T.P.8
-
13
-
-
16144368650
-
Haemochromatosis and HLA-H
-
Jouanolle, A. M., G. Gandon, P. Jezequel, M. Blayau, M. L. Campion, J. Yaouanq, J. Mosser, P. Fergelot, B. Chauvel, P. Bouric, G. Carn, N. Andrieux, I. Gicquel, J. Y. Le Gall, V. David: Haemochromatosis and HLA-H. Nat.Genet. 14 (1996), 251-252.
-
(1996)
Nat. Genet.
, vol.14
, pp. 251-252
-
-
Jouanolle, A.M.1
Gandon, G.2
Jezequel, P.3
Blayau, M.4
Campion, M.L.5
Yaouanq, J.6
Mosser, J.7
Fergelot, P.8
Chauvel, B.9
Bouric, P.10
Carn, G.11
Andrieux, N.12
Gicquel, I.13
Le Gall, J.Y.14
David, V.15
-
14
-
-
0032478524
-
Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor
-
Lebron, J. A., M. J. Bennett, D. E. Vaughn, A. J. Chirino, P. M. Snow, G. A. Mintier, J. N. Feder, P. J. Bjorkman: Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor. Cell 93 (1998), 111-123.
-
(1998)
Cell
, vol.93
, pp. 111-123
-
-
Lebron, 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
-
15
-
-
0030923653
-
Global prevalence of putative haemochromatosis mutations
-
Merryweather-Clarke, A. T., J. J. Pointon, J. D. Shearman, K. J. Robson: Global prevalence of putative haemochromatosis mutations. J. Med. Genet. 34 (1997), 275-278.
-
(1997)
J. Med. Genet.
, vol.34
, pp. 275-278
-
-
Merryweather-Clarke, A.T.1
Pointon, J.J.2
Shearman, J.D.3
Robson, K.J.4
-
16
-
-
0031839335
-
The effect of HFE mutations on serum ferritin and transferrin saturation in the Jersey population
-
Merryweather, Clarke AT, M. Worwood, L. Parkinson, C. Mattock, J. J. Pointon, J. D. Shearman, K. J. Robson: The effect of HFE mutations on serum ferritin and transferrin saturation in the Jersey population. Br. J. Haematol. 101 (1998), 369-373.
-
(1998)
Br. J. Haematol.
, vol.101
, pp. 369-373
-
-
Merryweather1
Clarke, A.T.2
Worwood, M.3
Parkinson, L.4
Mattock, C.5
Pointon, J.J.6
Shearman, J.D.7
Robson, K.J.8
-
17
-
-
0033561342
-
HFE mutations analysis in 711 hemochromatosis probands: Evidence for S65C implication in mild form of hemochromatosis
-
Mura, C., O. Raguenes, C. Ferec: HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis. Blood 93 (1999), 2502-2505.
-
(1999)
Blood
, vol.93
, pp. 2502-2505
-
-
Mura, C.1
Raguenes, O.2
Ferec, C.3
-
18
-
-
0029913626
-
Long-term survival in patients with hereditary hemochromatosis
-
Niederau, C., R. Fischer, A. Purschel, W. Stremmel, D. Häussinger, G. Strohmeyer: Long-term survival in patients with hereditary hemochromatosis. Gastroenterology 110 (1996), 1107-1119.
-
(1996)
Gastroenterology
, vol.110
, pp. 1107-1119
-
-
Niederau, C.1
Fischer, R.2
Purschel, A.3
Stremmel, W.4
Häussinger, D.5
Strohmeyer, G.6
-
19
-
-
0022368621
-
Survival and causes of death in cirrhotic and in noncirrhotic patients with primary hemochromatosis
-
Niederau, C., R. Fischer, A. Sonnenberg, W. Stremmel, H. J. Trampisch, G. Strohmeyer: Survival and causes of death in cirrhotic and in noncirrhotic patients with primary hemochromatosis. N. Engl. J. Med. 313 (1985), 1256-1262.
-
(1985)
N. Engl. J. Med.
, vol.313
, pp. 1256-1262
-
-
Niederau, C.1
Fischer, R.2
Sonnenberg, A.3
Stremmel, W.4
Trampisch, H.J.5
Strohmeyer, G.6
-
20
-
-
0032032503
-
Screening for hemochromatosis and iron deficiency in employees and primary care patients in Western Germany
-
Niederau, C., M. Niederau, S. Lange, A. Littauer, N. Abdel-Jalil, M. Maurer, D. Häussinger, G. Strohmeyer: Screening for hemochromatosis and iron deficiency in employees and primary care patients in Western Germany. Ann. Intern. Med. 128 (1998), 337-345.
-
(1998)
Ann. Intern. Med.
, vol.128
, pp. 337-345
-
-
Niederau, C.1
Niederau, M.2
Lange, S.3
Littauer, A.4
Abdel-Jalil, N.5
Maurer, M.6
Häussinger, D.7
Strohmeyer, G.8
-
21
-
-
0030712463
-
Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis
-
Parkkila, S., A. Waheed, R. S. Britton, B. R. Bacon, X. Y. Zhou, S. Tomatsu, R. E. Fleming, W. S. Sly: Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis. Proc. Natl. Acad. Sci. U.S.A. 94 (1997), 13198-13202.
-
(1997)
Proc. Natl. Acad. Sci. U.S.A.
, 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
-
22
-
-
0031957721
-
Heterogeneity of hemochromatosis in Italy
-
Piperno, A., M. Sampietro, A. Pietrangelo, C. Arosio, L. Lupica, G. Montosi, A. Vergani, M. Fraquelli, D. Girelli, P. Pasquero, A. Roetto, P. Gasparini, S. Fargion, D. Conte, C. Camaschella: Heterogeneity of hemochromatosis in Italy. Gastroenterology 114 (1998), 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
Fraquelli, M.8
Girelli, D.9
Pasquero, P.10
Roetto, A.11
Gasparini, P.12
Fargion, S.13
Conte, D.14
Camaschella, C.15
-
23
-
-
0031706520
-
Hepatic iron overload in patients with chronic viral hepatitis: Role of HFE gene mutations
-
Piperno, A., A. Vergani, I. Malosio, L. Parma, L. Fossati, A. Ricci, G. Bovo, G. Boari, G. Mancia: Hepatic iron overload in patients with chronic viral hepatitis: role of HFE gene mutations. Hepatology 28 (1998), 1105-1109.
-
(1998)
Hepatology
, vol.28
, pp. 1105-1109
-
-
Piperno, A.1
Vergani, A.2
Malosio, I.3
Parma, L.4
Fossati, L.5
Ricci, A.6
Bovo, G.7
Boari, G.8
Mancia, G.9
-
24
-
-
0031016791
-
Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda
-
Roberts, A. G., S. D. Whatley, R. R. Morgan, M. Worwood, G. H. Elder: Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda. Lancet 349 (1997), 321-323.
-
(1997)
Lancet
, vol.349
, pp. 321-323
-
-
Roberts, A.G.1
Whatley, S.D.2
Morgan, R.R.3
Worwood, M.4
Elder, G.H.5
-
25
-
-
0030761577
-
Absence of the hemochromatosis gene Cys282Tyr mutation in three ethnic groups from Algeria (Mzab), Ethiopia, and Senegal
-
Roth, M., P. Giraldo, G. Hariti, E. S. Poloni, A. Sanchez-Mazas, G. F. D. Stefano, J. M. Dugoujon, H.Coppin: Absence of the hemochromatosis gene Cys282Tyr mutation in three ethnic groups from Algeria (Mzab), Ethiopia, and Senegal. Immunogenetics 46 (1997), 222-225.
-
(1997)
Immunogenetics
, vol.46
, pp. 222-225
-
-
Roth, M.1
Giraldo, P.2
Hariti, G.3
Poloni, E.S.4
Sanchez-Mazas, A.5
Stefano, G.F.D.6
Dugoujon, J.M.7
Coppin, H.8
-
26
-
-
0031982781
-
High prevalence of the His63Asp HFE mutation in Italian patients with porphyria cutanea tarda
-
Sampietro, M., A. Piperno, L. Lupica, C. Arosio, A. Vergani, N. Corbetta, I. Malosio, M. Mattioli, A. L. Fracanzani, M. D. Cappellini, G. Fiorelli, S. Fargion: High prevalence of the His63Asp HFE mutation in Italian patients with porphyria cutanea tarda. Hepatology 27 (1998), 181-184.
-
(1998)
Hepatology
, vol.27
, pp. 181-184
-
-
Sampietro, M.1
Piperno, A.2
Lupica, L.3
Arosio, C.4
Vergani, A.5
Corbetta, N.6
Malosio, I.7
Mattioli, M.8
Fracanzani, A.L.9
Cappellini, M.D.10
Fiorelli, G.11
Fargion, S.12
-
27
-
-
0030732164
-
Hereditary hemochromatosis: Effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells
-
Waheed, A., S. Parkkila, X. Y. Zhou, S. Tomatsu, Z. Tsuchihashi, J. N. Feder, R. C. Schatzman, R. S. Britton, B. R. Bacon, W. S. Sly: Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells. Proc. Natl. Acad. Sci. U.S.A. 94 (1997), 12384-12389.
-
(1997)
Proc. Natl. Acad. Sci. U.S.A.
, vol.94
, pp. 12384-12389
-
-
Waheed, A.1
Parkkila, S.2
Zhou, X.Y.3
Tomatsu, S.4
Tsuchihashi, Z.5
Feder, J.N.6
Schatzman, R.C.7
Britton, R.S.8
Bacon, B.R.9
Sly, W.S.10
-
28
-
-
0033002960
-
A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heterozygote
-
Wallace, D. F., J. S. Dooley, A. P. Walker: A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heterozygote. Gastroenterology 116 (1999), 1409-1412.
-
(1999)
Gastroenterology
, vol.116
, pp. 1409-1412
-
-
Wallace, D.F.1
Dooley, J.S.2
Walker, A.P.3
-
29
-
-
0031214025
-
A high prevalence of HLA-H 845A mutations in hemochromatosis patients and the normal population in eastern England
-
Willis, G., B. A. Jennings, E. Goodman, I. W. Fellows, J. Z. Wimperis: A high prevalence of HLA-H 845A mutations in hemochromatosis patients and the normal population in eastern England. Blood Cells Mol. Dis. 23 (1997), 288-291.
-
(1997)
Blood Cells Mol. Dis.
, vol.23
, pp. 288-291
-
-
Willis, G.1
Jennings, B.A.2
Goodman, E.3
Fellows, I.W.4
Wimperis, J.Z.5
-
30
-
-
0001376313
-
HFE gene knockout produces mouse model of hereditary hemochromatosis
-
Zhou, X. Y., S. Tomatsu, R. E. Fleming, S. Parkkila, A. Waheed, J. Jiang, Y. Fei, E. M. Brunt, D. A. Ruddy, C. E. Prass, R. C. Schatzman, R. O'Neill, R. S. Britton, B. R. Bacon, W. S. Sly: HFE gene knockout produces mouse model of hereditary hemochromatosis. Proc. Natl. Acad. Sci. U.S.A. 95 (1998), 2492-2497.
-
(1998)
Proc. Natl. Acad. Sci. U.S.A.
, vol.95
, pp. 2492-2497
-
-
Zhou, X.Y.1
Tomatsu, S.2
Fleming, R.E.3
Parkkila, S.4
Waheed, A.5
Jiang, J.6
Fei, Y.7
Brunt, E.M.8
Ruddy, D.A.9
Prass, C.E.10
Schatzman, R.C.11
O'Neill, R.12
Britton, R.S.13
Bacon, B.R.14
Sly, W.S.15
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