-
1
-
-
0032955556
-
Molecular medicine and hemochromatosis: at the crossroads
-
Bacon BR, Powell LW, Adams PC, Kresina TF, Hoofnagle JH. Molecular medicine and hemochromatosis: at the crossroads. Gastroenterology 1999; 116: 193-207.
-
(1999)
Gastroenterology
, vol.116
, pp. 193-207
-
-
Bacon, B.R.1
Powell, L.W.2
Adams, P.C.3
Kresina, T.F.4
Hoofnagle, J.H.5
-
2
-
-
9344224529
-
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
-
Feder JN, Gnirke A, Thomas W etal. 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
-
5
-
-
0031744037
-
High incidence of the Cys 282 Tyr mutation in the HFE gene in the Irish population-implications for haemochromatosis
-
Murphy S, Curran MD, McDougall N, Callender ME, O'Brien CJ, Middleton D. High incidence of the Cys 282 Tyr mutation in the HFE gene in the Irish population-implications for haemochromatosis. Tissue Antigens 1998; 52: 484-488.
-
(1998)
Tissue Antigens
, vol.52
, pp. 484-488
-
-
Murphy, S.1
Curran, M.D.2
McDougall, N.3
Callender, M.E.4
O'Brien, C.J.5
Middleton, D.6
-
6
-
-
10844258104
-
Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization
-
Nemeth E, Tuttle MS, Powelson J etal. Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization. Science 2004; 306: 2090-2093.
-
(2004)
Science
, vol.306
, pp. 2090-2093
-
-
Nemeth, E.1
Tuttle, M.S.2
Powelson, J.3
-
7
-
-
0035896581
-
A new mouse liver-specific gene, encoding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during iron overload
-
Pigeon C, Ilyin G, Courselaud B etal. A new mouse liver-specific gene, encoding 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
-
8
-
-
79955958017
-
Hepcidin and iron regulation, 10 years later
-
Ganz T. Hepcidin and iron regulation, 10 years later. Blood 2011; 117: 4425-4433.
-
(2011)
Blood
, vol.117
, pp. 4425-4433
-
-
Ganz, T.1
-
9
-
-
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 JG, Liu TC, Lin SF. 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 1997; 89: 3492-3493.
-
(1997)
Blood
, vol.89
, pp. 3492-3493
-
-
Chang, J.G.1
Liu, T.C.2
Lin, S.F.3
-
10
-
-
0032968375
-
Frequencies in the Japanese population of HFE gene mutations
-
Sohda T, Yanai J, Soejima H, Tamura K. Frequencies in the Japanese population of HFE gene mutations. Biochem. Genet. 1999; 37: 63-68.
-
(1999)
Biochem. Genet.
, vol.37
, pp. 63-68
-
-
Sohda, T.1
Yanai, J.2
Soejima, H.3
Tamura, K.4
-
11
-
-
1642513739
-
Distribution of C282Y and H63D mutations in the HFE gene in healthy Asian Indians and patients with thalassaemia major
-
Kaur G, Rapthap CC, Xavier M etal. Distribution of C282Y and H63D mutations in the HFE gene in healthy Asian Indians and patients with thalassaemia major. Natl Med. J. India 2003; 16: 309-310.
-
(2003)
Natl Med. J. India
, vol.16
, pp. 309-310
-
-
Kaur, G.1
Rapthap, C.C.2
Xavier, M.3
-
12
-
-
0036177909
-
A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation
-
Gochee PA, Powell LW, Cullen DJ, Du Sart D, Rossi E, Olynyk JK. A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation. Gastroenterology 2002; 122: 646-651.
-
(2002)
Gastroenterology
, vol.122
, pp. 646-651
-
-
Gochee, P.A.1
Powell, L.W.2
Cullen, D.J.3
Du Sart, D.4
Rossi, E.5
Olynyk, J.K.6
-
13
-
-
33750819627
-
The clinical relevance of compound heterozygosity for the C282Y and H63D substitutions in hemochromatosis
-
Walsh A, Dixon JL, Ramm GA etal. The clinical relevance of compound heterozygosity for the C282Y and H63D substitutions in hemochromatosis. Clin. Gastroenterol. Hepatol. 2006; 4: 1403-1410.
-
(2006)
Clin. Gastroenterol. Hepatol.
, vol.4
, pp. 1403-1410
-
-
Walsh, A.1
Dixon, J.L.2
Ramm, G.A.3
-
15
-
-
43549121972
-
Definition of C282Y mutation in a hereditary hemochromatosis family from Turkey
-
Yonal O, Hatirnaz O, Akyuz F etal. Definition of C282Y mutation in a hereditary hemochromatosis family from Turkey. Turk. J. Gastroenterol. 2007; 18: 53-57.
-
(2007)
Turk. J. Gastroenterol.
, vol.18
, pp. 53-57
-
-
Yonal, O.1
Hatirnaz, O.2
Akyuz, F.3
-
17
-
-
84863819536
-
The functional significance of E277K and V295A HFE mutations
-
Silva B, Martins R, Proenca D, Fleming R, Faustino P. The functional significance of E277K and V295A HFE mutations. Br. J. Haematol. 2012; 158: 399-408.
-
(2012)
Br. J. Haematol.
, vol.158
, pp. 399-408
-
-
Silva, B.1
Martins, R.2
Proenca, D.3
Fleming, R.4
Faustino, P.5
-
18
-
-
0033628484
-
Two novel polymorphisms (E277K and V212V) in the haemochromatosis gene HFE
-
Bradbury R, Fagan E, Payne SJ. Two novel polymorphisms (E277K and V212V) in the haemochromatosis gene HFE. Hum. Mutat. 2000; 15: 120.
-
(2000)
Hum. Mutat.
, vol.15
, pp. 120
-
-
Bradbury, R.1
Fagan, E.2
Payne, S.J.3
-
19
-
-
11044233280
-
Spectrum and haplotypes of the HFE hemochromatosis gene in Iran: H63D in beta-thalassemia major and the first E277K homozygous
-
Karimi M, Yavarian M, Delbini P etal. Spectrum and haplotypes of the HFE hemochromatosis gene in Iran: H63D in beta-thalassemia major and the first E277K homozygous. Hematol. J. 2004; 5: 524-527.
-
(2004)
Hematol. J.
, vol.5
, pp. 524-527
-
-
Karimi, M.1
Yavarian, M.2
Delbini, P.3
-
20
-
-
59049083735
-
Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron metabolism-related genes
-
Mendes AI, Ferro A, Martins R etal. Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron metabolism-related genes. Ann. Hematol. 2008; 88: 229-234.
-
(2008)
Ann. Hematol.
, vol.88
, pp. 229-234
-
-
Mendes, A.I.1
Ferro, A.2
Martins, R.3
-
21
-
-
80053975390
-
A novel Y231del mutation of HFE in hereditary haemochromatosis provides in vivo evidence that the Huh-7 is a human haemochromatotic cell line
-
Takano A, Niimi H, Atarashi Y etal. A novel Y231del mutation of HFE in hereditary haemochromatosis provides in vivo evidence that the Huh-7 is a human haemochromatotic cell line. Liver Int. 2011; 31: 1593-1597.
-
(2011)
Liver Int.
, vol.31
, pp. 1593-1597
-
-
Takano, A.1
Niimi, H.2
Atarashi, Y.3
-
22
-
-
75449097854
-
Huh-7: a human "hemochromatotic" cell line
-
Vecchi C, Montosi G, Pietrangelo A. Huh-7: a human "hemochromatotic" cell line. Hepatology 2010; 51: 654-659.
-
(2010)
Hepatology
, vol.51
, pp. 654-659
-
-
Vecchi, C.1
Montosi, G.2
Pietrangelo, A.3
-
23
-
-
0036177789
-
A homozygous HFE gene splice site mutation (IVS5+1 G/A) in a hereditary hemochromatosis patient of Vietnamese origin
-
Steiner M, Ocran K, Genschel J etal. A homozygous HFE gene splice site mutation (IVS5+1 G/A) in a hereditary hemochromatosis patient of Vietnamese origin. Gastroenterology 2002; 122: 789-795.
-
(2002)
Gastroenterology
, vol.122
, pp. 789-795
-
-
Steiner, M.1
Ocran, K.2
Genschel, J.3
-
24
-
-
0037961858
-
Hemochromatosis gene (HFE) mutations in South East Asia: a potential for iron overload
-
Pointon JJ, Viprakasit V, Miles KL etal. Hemochromatosis gene (HFE) mutations in South East Asia: a potential for iron overload. Blood Cells Mol. Dis. 2003; 30: 302-306.
-
(2003)
Blood Cells Mol. Dis.
, vol.30
, pp. 302-306
-
-
Pointon, J.J.1
Viprakasit, V.2
Miles, K.L.3
-
25
-
-
3042569669
-
Prevalence of HFE mutations among the Thai population and correlation with iron loading in haemoglobin E disorder
-
Viprakasit V, Vathesathokit P, Chinchang W etal. Prevalence of HFE mutations among the Thai population and correlation with iron loading in haemoglobin E disorder. Eur. J. Haematol. 2004; 73: 43-49.
-
(2004)
Eur. J. Haematol.
, vol.73
, pp. 43-49
-
-
Viprakasit, V.1
Vathesathokit, P.2
Chinchang, W.3
-
26
-
-
33846340821
-
Hemochromatosis (HFE) gene splice site mutation IVS5+1 G/A in North American Vietnamese with and without phenotypic evidence of iron overload
-
Steiner M, Leiendecker-Foster C, McLaren GD etal. Hemochromatosis (HFE) gene splice site mutation IVS5+1 G/A in North American Vietnamese with and without phenotypic evidence of iron overload. Transl. Res. 2007; 149: 92-95.
-
(2007)
Transl. Res.
, vol.149
, pp. 92-95
-
-
Steiner, M.1
Leiendecker-Foster, C.2
McLaren, G.D.3
-
27
-
-
0036075097
-
Natural history of juvenile haemochromatosis
-
De Gobbi M, Roetto A, Piperno A etal. 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
-
28
-
-
0033358675
-
Juvenile hemochromatosis locus maps to chromosome 1q
-
Roetto A, Totaro A, Cazzola M etal. 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
-
29
-
-
9144252017
-
Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis
-
Papanikolaou G, Samuels ME, Ludwig EH etal. Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. Nat. Genet. 2004; 36: 77-82.
-
(2004)
Nat. Genet.
, vol.36
, pp. 77-82
-
-
Papanikolaou, G.1
Samuels, M.E.2
Ludwig, E.H.3
-
30
-
-
33646370235
-
Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression
-
Babitt JL, Huang FW, Wrighting DM etal. Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression. Nat. Genet. 2006; 38: 531-539.
-
(2006)
Nat. Genet.
, vol.38
, pp. 531-539
-
-
Babitt, J.L.1
Huang, F.W.2
Wrighting, D.M.3
-
31
-
-
70350482508
-
Suppression of the hepcidin-encoding gene Hamp permits iron overload in mice lacking both hemojuvelin and matriptase-2/TMPRSS6
-
Truksa J, Gelbart T, Peng H, Beutler E, Beutler B, Lee P. Suppression of the hepcidin-encoding gene Hamp permits iron overload in mice lacking both hemojuvelin and matriptase-2/TMPRSS6. Br. J. Haematol. 2009; 147: 571-581.
-
(2009)
Br. J. Haematol.
, vol.147
, pp. 571-581
-
-
Truksa, J.1
Gelbart, T.2
Peng, H.3
Beutler, E.4
Beutler, B.5
Lee, P.6
-
32
-
-
4544314123
-
The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype
-
Le Gac G, Scotet V, Ka C etal. The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype. Hum. Mol. Genet. 2004; 13: 1913-1918.
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 1913-1918
-
-
Le Gac, G.1
Scotet, V.2
Ka, C.3
-
33
-
-
14344249451
-
Hemojuvelin (HJV)-associated hemochromatosis: analysis of HJV and HFE mutations and iron overload in three families
-
Wallace DF, Dixon JL, Ramm GA, Anderson GJ, Powell LW, Subramaniam N. Hemojuvelin (HJV)-associated hemochromatosis: analysis of HJV and HFE mutations and iron overload in three families. Haematologica 2005; 90: 254-255.
-
(2005)
Haematologica
, vol.90
, pp. 254-255
-
-
Wallace, D.F.1
Dixon, J.L.2
Ramm, G.A.3
Anderson, G.J.4
Powell, L.W.5
Subramaniam, N.6
-
35
-
-
4644256637
-
Identification of a novel mutation (C321X) in HJV
-
Huang FW, Rubio-Aliaga I, Kushner JP, Andrews NC, Fleming MD. Identification of a novel mutation (C321X) in HJV. Blood 2004; 104: 2176-2177.
-
(2004)
Blood
, vol.104
, pp. 2176-2177
-
-
Huang, F.W.1
Rubio-Aliaga, I.2
Kushner, J.P.3
Andrews, N.C.4
Fleming, M.D.5
-
36
-
-
24344497919
-
Three patients with middle-age-onset hemochromatosis caused by novel mutations in the hemojuvelin gene
-
Koyama C, Hayashi H, Wakusawa S etal. Three patients with middle-age-onset hemochromatosis caused by novel mutations in the hemojuvelin gene. J. Hepatol. 2005; 43: 740-742.
-
(2005)
J. Hepatol.
, vol.43
, pp. 740-742
-
-
Koyama, C.1
Hayashi, H.2
Wakusawa, S.3
-
37
-
-
53249121479
-
A Q312X mutation in the hemojuvelin gene is associated with cardiomyopathy due to juvenile haemochromatosis
-
Nagayoshi Y, Nakayama M, Suzuki S etal. A Q312X mutation in the hemojuvelin gene is associated with cardiomyopathy due to juvenile haemochromatosis. Eur. J. Heart Fail. 2008; 10: 1001-1006.
-
(2008)
Eur. J. Heart Fail.
, vol.10
, pp. 1001-1006
-
-
Nagayoshi, Y.1
Nakayama, M.2
Suzuki, S.3
-
38
-
-
20244388240
-
Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis
-
Roetto A, Papanikolaou G, Politou M etal. 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
-
39
-
-
2442715055
-
A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant juvenile hemochromatosis
-
Delatycki MB, Allen KJ, Gow P etal. A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant juvenile hemochromatosis. Clin. Genet. 2004; 65: 378-383.
-
(2004)
Clin. Genet.
, vol.65
, pp. 378-383
-
-
Delatycki, M.B.1
Allen, K.J.2
Gow, P.3
-
40
-
-
84857642455
-
Identification of a novel mutation in the HAMP gene that causes non-detectable hepcidin molecules in a Japanese male patient with juvenile hemochromatosis
-
Hattori A, Tomosugi N, Tatsumi Y etal. Identification of a novel mutation in the HAMP gene that causes non-detectable hepcidin molecules in a Japanese male patient with juvenile hemochromatosis. Blood Cells Mol. Dis. 2012; 48: 179-182.
-
(2012)
Blood Cells Mol. Dis.
, vol.48
, pp. 179-182
-
-
Hattori, A.1
Tomosugi, N.2
Tatsumi, Y.3
-
41
-
-
0034022636
-
The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22
-
Camaschella C, Roetto A, Cali A etal. 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
-
42
-
-
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. Transferrin receptor 2-alpha 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
-
43
-
-
33749393565
-
Hereditary hemochromatosis protein, HFE, interaction with transferrin receptor 2 suggests a molecular mechanism for mammalian iron sensing
-
Goswami T, Andrews NC. Hereditary hemochromatosis protein, HFE, interaction with transferrin receptor 2 suggests a molecular mechanism for mammalian iron sensing. J. Biol. Chem. 2006; 281: 28494-28498.
-
(2006)
J. Biol. Chem.
, vol.281
, pp. 28494-28498
-
-
Goswami, T.1
Andrews, N.C.2
-
44
-
-
60649103774
-
Interaction of the hereditary hemochromatosis protein HFE with transferrin receptor 2 is required for transferrin-induced hepcidin expression
-
Gao J, Chen J, Kramer M, Tsukamoto H, Zhang AS, Enns CA. Interaction of the hereditary hemochromatosis protein HFE with transferrin receptor 2 is required for transferrin-induced hepcidin expression. Cell Metab. 2009; 9: 217-227.
-
(2009)
Cell Metab.
, vol.9
, pp. 217-227
-
-
Gao, J.1
Chen, J.2
Kramer, M.3
Tsukamoto, H.4
Zhang, A.S.5
Enns, C.A.6
-
45
-
-
84867578495
-
The hemochromatosis proteins HFE, TfR2, and HJV form a membrane-associated protein complex for hepcidin regulation
-
D'Alessio F, Hentze MW, Muckenthaler MU. The hemochromatosis proteins HFE, TfR2, and HJV form a membrane-associated protein complex for hepcidin regulation. J. Hepatol. 2012; 57: 1052-1060.
-
(2012)
J. Hepatol.
, vol.57
, pp. 1052-1060
-
-
D'Alessio, F.1
Hentze, M.W.2
Muckenthaler, M.U.3
-
46
-
-
73149083742
-
Combined deletion of Hfe and transferrin receptor 2 in mice leads to marked dysregulation of hepcidin and iron overload
-
Wallace DF, Summerville L, Crampton EM, Frazer DM, Anderson GJ, Subramaniam VN. Combined deletion of Hfe and transferrin receptor 2 in mice leads to marked dysregulation of hepcidin and iron overload. Hepatology 2009; 50: 1992-2000.
-
(2009)
Hepatology
, vol.50
, pp. 1992-2000
-
-
Wallace, D.F.1
Summerville, L.2
Crampton, E.M.3
Frazer, D.M.4
Anderson, G.J.5
Subramaniam, V.N.6
-
47
-
-
84861344055
-
E-dependent induction of hepcidin in mice does not require transferrin receptor-2
-
Schmidt PJ, Fleming MD. Transgenic HF. E-dependent induction of hepcidin in mice does not require transferrin receptor-2. Am. J. Hematol. 2012; 87: 588-595.
-
(2012)
Am. J. Hematol.
, vol.87
, pp. 588-595
-
-
Schmidt, P.J.1
Fleming, M.D.2
Transgenic, H.F.3
-
48
-
-
13544250486
-
Hepcidin is decreased in TFR2 hemochromatosis
-
Nemeth E, Roetto A, Garozzo G, Ganz T, Camaschella C. Hepcidin is decreased in TFR2 hemochromatosis. Blood 2005; 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
-
49
-
-
2942582341
-
Early onset hereditary hemochromatosis resulting from a novel TFR2 gene nonsense mutation (R105X) in two siblings of north French descent
-
Le Gac G, Mons F, Jacolot S, Scotet V, Ferec C, Frebourg T. Early onset hereditary hemochromatosis resulting from a novel TFR2 gene nonsense mutation (R105X) in two siblings of north French descent. Br. J. Haematol. 2004; 125: 674-678.
-
(2004)
Br. J. Haematol.
, vol.125
, pp. 674-678
-
-
Le Gac, G.1
Mons, F.2
Jacolot, S.3
Scotet, V.4
Ferec, C.5
Frebourg, T.6
-
50
-
-
0043170776
-
AVAQ 594-597 deletion of the TfR2 gene in a Japanese family with hemochromatosis
-
Hattori A, Wakusawa S, Hayashi H etal. 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
-
51
-
-
84867613955
-
Iranian hereditary hemochromatosis patients: baseline characteristics, laboratory data and gene mutations
-
Zamani F, Bagheri Z, Bayat M etal. Iranian hereditary hemochromatosis patients: baseline characteristics, laboratory data and gene mutations. Med. Sci. Monit. 2012; 18: CR622-629.
-
(2012)
Med. Sci. Monit.
, vol.18
-
-
Zamani, F.1
Bagheri, Z.2
Bayat, M.3
-
52
-
-
20144381350
-
Two novel mutations, L490R and V561X, of the transferrin receptor 2 gene in Japanese patients with hemochromatosis
-
Koyama C, Wakusawa S, Hayashi H etal. Two novel mutations, L490R and V561X, of the transferrin receptor 2 gene in Japanese patients with hemochromatosis. Haematologica 2005; 90: 302-307.
-
(2005)
Haematologica
, vol.90
, pp. 302-307
-
-
Koyama, C.1
Wakusawa, S.2
Hayashi, H.3
-
53
-
-
34347369737
-
A novel mutation of transferrin receptor 2 in a Taiwanese woman with type 3 hemochromatosis
-
Hsiao PJ, Tsai KB, Shin SJ etal. A novel mutation of transferrin receptor 2 in a Taiwanese woman with type 3 hemochromatosis. J. Hepatol. 2007; 47: 303-306.
-
(2007)
J. Hepatol.
, vol.47
, pp. 303-306
-
-
Hsiao, P.J.1
Tsai, K.B.2
Shin, S.J.3
-
54
-
-
0035049344
-
Mutation analysis of the transferrin receptor-2 gene in patients with iron overload
-
Lee PL, Halloran C, West C, Beutler E. Mutation analysis of the transferrin receptor-2 gene in patients with iron overload. Blood Cells Mol. Dis. 2001; 27: 285-289.
-
(2001)
Blood Cells Mol. Dis.
, vol.27
, pp. 285-289
-
-
Lee, P.L.1
Halloran, C.2
West, C.3
Beutler, E.4
-
55
-
-
33751172502
-
Genetic background of primary iron overload syndromes in Japan
-
Hayashi H, Wakusawa S, Motonishi S etal. Genetic background of primary iron overload syndromes in Japan. Intern. Med. 2006; 45: 1107-1111.
-
(2006)
Intern. Med.
, vol.45
, pp. 1107-1111
-
-
Hayashi, H.1
Wakusawa, S.2
Motonishi, S.3
-
56
-
-
73549097259
-
Functional analysis and theoretical modeling of ferroportin reveals clustering of mutations according to phenotype
-
Wallace DF, Harris JM, Subramaniam VN. Functional analysis and theoretical modeling of ferroportin reveals clustering of mutations according to phenotype. Am. J. Physiol. Cell Physiol. 2010; 298: C75-84.
-
(2010)
Am. J. Physiol. Cell Physiol.
, vol.298
-
-
Wallace, D.F.1
Harris, J.M.2
Subramaniam, V.N.3
-
57
-
-
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
-
58
-
-
20844462571
-
In vitro functional analysis of human ferroportin (FPN) and hemochromatosis-associated FPN mutations
-
Schimanski LM, Drakesmith H, Merryweather-Clarke AT etal. In vitro functional analysis of human ferroportin (FPN) and hemochromatosis-associated FPN mutations. Blood 2005; 105: 4096-4102.
-
(2005)
Blood
, vol.105
, pp. 4096-4102
-
-
Schimanski, L.M.1
Drakesmith, H.2
Merryweather-Clarke, A.T.3
-
59
-
-
0033517341
-
Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene
-
Pietrangelo A, Montosi G, Totaro A etal. 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
-
60
-
-
23044508432
-
Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin
-
Drakesmith H, Schimanski LM, Ormerod E etal. Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin. Blood 2005; 106: 1092-1097.
-
(2005)
Blood
, vol.106
, pp. 1092-1097
-
-
Drakesmith, H.1
Schimanski, L.M.2
Ormerod, E.3
-
62
-
-
0037622887
-
A novel mutation in ferroportin1 is associated with haemochromatosis in a Solomon Islands patient
-
Arden KE, Wallace DF, Dixon JL etal. A novel mutation in ferroportin1 is associated with haemochromatosis in a Solomon Islands patient. Gut 2003; 52: 1215-1217.
-
(2003)
Gut
, vol.52
, pp. 1215-1217
-
-
Arden, K.E.1
Wallace, D.F.2
Dixon, J.L.3
-
63
-
-
21044448653
-
Ferroportin disease due to the A77D mutation in Australia
-
Subramaniam VN, Wallace DF, Dixon JL, Fletcher LM, Crawford DH. Ferroportin disease due to the A77D mutation in Australia. Gut 2005; 54: 1048-1049.
-
(2005)
Gut
, vol.54
, pp. 1048-1049
-
-
Subramaniam, V.N.1
Wallace, D.F.2
Dixon, J.L.3
Fletcher, L.M.4
Crawford, D.H.5
-
64
-
-
0037100517
-
Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis
-
Wallace DF, Pedersen P, Dixon JL etal. Novel mutation in ferroportin1 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
-
65
-
-
1642280929
-
Autosomal dominant iron overload due to a novel mutation of ferroportin1 associated with parenchymal iron loading and cirrhosis
-
Wallace DF, Clark RM, Harley HA, Subramaniam VN. Autosomal dominant iron overload due to a novel mutation of ferroportin1 associated with parenchymal iron loading and cirrhosis. J. Hepatol. 2004; 40: 710-713.
-
(2004)
J. Hepatol.
, vol.40
, pp. 710-713
-
-
Wallace, D.F.1
Clark, R.M.2
Harley, H.A.3
Subramaniam, V.N.4
-
66
-
-
34047175337
-
A novel mutation in ferroportin implicated in iron overload
-
Wallace DF, Dixon JL, Ramm GA, Anderson GJ, Powell LW, Subramaniam VN. A novel mutation in ferroportin implicated in iron overload. J. Hepatol. 2007; 46: 921-926.
-
(2007)
J. Hepatol.
, vol.46
, pp. 921-926
-
-
Wallace, D.F.1
Dixon, J.L.2
Ramm, G.A.3
Anderson, G.J.4
Powell, L.W.5
Subramaniam, V.N.6
-
67
-
-
15444380100
-
Identification of ferroportin disease in the Indian subcontinent
-
Wallace DF, Browett P, Wong P, Kua H, Ameratunga R, Subramaniam VN. Identification of ferroportin disease in the Indian subcontinent. Gut 2005; 54: 567-568.
-
(2005)
Gut
, vol.54
, pp. 567-568
-
-
Wallace, D.F.1
Browett, P.2
Wong, P.3
Kua, H.4
Ameratunga, R.5
Subramaniam, V.N.6
-
68
-
-
33746918754
-
Ferroportin (SLC40A1) gene in thalassemic patients of Indian descent
-
Agarwal S, Sankar VH, Tewari D, Pradhan M. Ferroportin (SLC40A1) gene in thalassemic patients of Indian descent. Clin. Genet. 2006; 70: 86-87.
-
(2006)
Clin. Genet.
, vol.70
, pp. 86-87
-
-
Agarwal, S.1
Sankar, V.H.2
Tewari, D.3
Pradhan, M.4
-
69
-
-
79951670710
-
G80S-linked ferroportin disease: classical ferroportin disease in an Asian family and reclassification of the mutant as iron transport defective
-
McDonald CJ, Wallace DF, Ostini L, Bell SJ, Demediuk B, Subramaniam VN. G80S-linked ferroportin disease: classical ferroportin disease in an Asian family and reclassification of the mutant as iron transport defective. J. Hepatol. 2011; 54: 538-544.
-
(2011)
J. Hepatol.
, vol.54
, pp. 538-544
-
-
McDonald, C.J.1
Wallace, D.F.2
Ostini, L.3
Bell, S.J.4
Demediuk, B.5
Subramaniam, V.N.6
-
70
-
-
33644798951
-
Genetic and clinical heterogeneity of ferroportin disease
-
Cremonesi L, Forni GL, Soriani N etal. Genetic and clinical heterogeneity of ferroportin disease. Br. J. Haematol. 2005; 131: 663-670.
-
(2005)
Br. J. Haematol.
, vol.131
, pp. 663-670
-
-
Cremonesi, L.1
Forni, G.L.2
Soriani, N.3
-
71
-
-
10744219904
-
Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload
-
Jouanolle AM, Douabin-Gicquel V, Halimi C etal. 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
-
72
-
-
27844470641
-
A Japanese family with ferroportin disease caused by a novel mutation of SLC40A1 gene: hyperferritinemia associated with a relatively low transferrin saturation of iron
-
Koyama C, Wakusawa S, Hayashi H etal. A Japanese family with ferroportin disease caused by a novel mutation of SLC40A1 gene: hyperferritinemia associated with a relatively low transferrin saturation of iron. Intern. Med. 2005; 44: 990-993.
-
(2005)
Intern. Med.
, vol.44
, pp. 990-993
-
-
Koyama, C.1
Wakusawa, S.2
Hayashi, H.3
-
73
-
-
67651087324
-
The molecular basis of hepcidin-resistant hereditary hemochromatosis
-
Fernandes A, Preza GC, Phung Y etal. The molecular basis of hepcidin-resistant hereditary hemochromatosis. Blood 2009; 114: 437-443.
-
(2009)
Blood
, vol.114
, pp. 437-443
-
-
Fernandes, A.1
Preza, G.C.2
Phung, Y.3
-
74
-
-
20844441615
-
Hemochromatosis with mutation of the ferroportin 1 (IREG1) gene
-
Liu W, Shimomura S, Imanishi H etal. Hemochromatosis with mutation of the ferroportin 1 (IREG1) gene. Intern. Med. 2005; 44: 285-289.
-
(2005)
Intern. Med.
, vol.44
, pp. 285-289
-
-
Liu, W.1
Shimomura, S.2
Imanishi, H.3
-
75
-
-
0034964604
-
A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload
-
Kato J, Fujikawa K, Kanda M etal. 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
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