-
1
-
-
0005200207
-
Iron metabolism in hemochromatosis
-
Finch C. Iron metabolism in hemochromatosis. J. Clin. Invest. 28, 780 (1949).
-
(1949)
J. Clin. Invest
, vol.28
, pp. 780
-
-
Finch, C.1
-
2
-
-
0022368621
-
Survival and causes of death in cirrhotic and in noncirrhotic patients with primary hemochromatosis
-
Niederau C, Fischer R, Sonnenberg A, Stremmel W, Trampisch HJ, Strohmeyer G. Survival and causes of death in cirrhotic and in noncirrhotic patients with primary hemochromatosis. N. Engl. J. Med. 313(20), 1256-1262 (1985).
-
(1985)
N. Engl. J. Med
, vol.313
, Issue.20
, pp. 1256-1262
-
-
Niederau, C.1
Fischer, R.2
Sonnenberg, A.3
Stremmel, W.4
Trampisch, H.J.5
Strohmeyer, G.6
-
3
-
-
0017158302
-
Association of HLA-A3 and HLA-B14 antigens with idiopathic haemochromatosis
-
Simon M, Bourel M, Fauchet R, Genetet B. Association of HLA-A3 and HLA-B14 antigens with idiopathic haemochromatosis. Gut 17(5), 332-334 (1976).
-
(1976)
Gut
, vol.17
, Issue.5
, pp. 332-334
-
-
Simon, M.1
Bourel, M.2
Fauchet, R.3
Genetet, B.4
-
4
-
-
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. N. Engl. J. Med. 297(19), 1017-1021 (1977).
-
(1977)
N. Engl. J. Med
, vol.297
, Issue.19
, pp. 1017-1021
-
-
Simon, M.1
Bourel, M.2
Genetet, B.3
Fauchet, R.4
-
5
-
-
9344224529
-
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
-
Feder JN, Gnirke A, Thomas W et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat. Genet. 13(4), 399-408 (1996).
-
(1996)
Nat. Genet
, vol.13
, Issue.4
, pp. 399-408
-
-
Feder, J.N.1
Gnirke, A.2
Thomas, W.3
-
6
-
-
1442306702
-
Non-HFE hemochromatosis
-
Pietrangelo A, Non-HFE hemochromatosis. Hepatology 39(1), 21-29 (2004).
-
(2004)
Hepatology
, vol.39
, Issue.1
, pp. 21-29
-
-
Pietrangelo, A.1
-
7
-
-
0033862319
-
Geography of HFE C282Y and H63D mutations
-
Merryweather-Clarke AT, Pointon JJ, Jouanolle AM, Rochette J, Robson KJ. Geography of HFE C282Y and H63D mutations. Genet. Test. 4(2), 183-198 (2000).
-
(2000)
Genet. Test
, vol.4
, Issue.2
, pp. 183-198
-
-
Merryweather-Clarke, A.T.1
Pointon, J.J.2
Jouanolle, A.M.3
Rochette, J.4
Robson, K.J.5
-
8
-
-
0033066062
-
A genotypic study of 217 unrelated probands diagnosed as "genetic hemochromatosis" on "classical" phenotypic criteria
-
Brissot P, Moirand R, Jouanolle AM et al. A genotypic study of 217 unrelated probands diagnosed as "genetic hemochromatosis" on "classical" phenotypic criteria. J. Hepatol. 30(4), 588-593 (1999).
-
(1999)
J. Hepatol
, vol.30
, Issue.4
, pp. 588-593
-
-
Brissot, P.1
Moirand, R.2
Jouanolle, A.M.3
-
9
-
-
34248673710
-
Regulation of systemic iron homeostasis: How the body responds to changes in iron demand
-
Anderson GJ, Darshan D, Wilkins SJ, Frazer DM. Regulation of systemic iron homeostasis: how the body responds to changes in iron demand. Biometals 20(3-4), 665-674 (2007).
-
(2007)
Biometals
, vol.20
, Issue.3-4
, pp. 665-674
-
-
Anderson, G.J.1
Darshan, D.2
Wilkins, S.J.3
Frazer, D.M.4
-
10
-
-
33846650973
-
Molecular control of iron transport
-
Ganz T. Molecular control of iron transport. J. Am. Soc. Nephrol. 18 (2), 394-400 (2007).
-
(2007)
J. Am. Soc. Nephrol
, vol.18
, Issue.2
, pp. 394-400
-
-
Ganz, T.1
-
11
-
-
41549127253
-
Iron homeostasis: Fitting the puzzle pieces together
-
Ganz T. Iron homeostasis: fitting the puzzle pieces together. Cell Metab. 7(4), 288-290 (2008).
-
(2008)
Cell Metab
, vol.7
, Issue.4
, pp. 288-290
-
-
Ganz, T.1
-
12
-
-
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, Courseland B et al. A new mouse liver-specific gene, encoding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during iron overload. J. Biol. Chem. 276(11), 7811-7819 (2001).
-
(2001)
J. Biol. Chem
, vol.276
, Issue.11
, pp. 7811-7819
-
-
Pigeon, C.1
Ilyin, G.2
Courseland, B.3
-
13
-
-
0038662619
-
Hepcidin, a putative mediator of anemia of inflammation, is a type II acute-phase protein
-
Nemeth E, Valore EV, Territo M, Schiller G, Lichtenstein A, Ganz T. Hepcidin, a putative mediator of anemia of inflammation, is a type II acute-phase protein. Blood 101(7), 2461-2463 (2003).
-
(2003)
Blood
, vol.101
, Issue.7
, pp. 2461-2463
-
-
Nemeth, E.1
Valore, E.V.2
Territo, M.3
Schiller, G.4
Lichtenstein, A.5
Ganz, T.6
-
14
-
-
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 et al. Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice. Proc. Natl Acad. Sci. USA 98(15), 8780-8785 (2001).
-
(2001)
Proc. Natl Acad. Sci. USA
, vol.98
, Issue.15
, pp. 8780-8785
-
-
Nicolas, G.1
Bennoun, M.2
Devaux, I.3
-
15
-
-
34250865977
-
The molecular mechanism of hepcidin-mediated ferroportin down-regulation
-
De Domenico I, Ward DM, Langelier C et al. The molecular mechanism of hepcidin-mediated ferroportin down-regulation. Mol. Biol. Cell 18(7), 2569-2578 (2007).
-
(2007)
Mol. Biol. Cell
, vol.18
, Issue.7
, pp. 2569-2578
-
-
De Domenico, I.1
Ward, D.M.2
Langelier, C.3
-
16
-
-
10844258104
-
Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization
-
Nemeth E, Turtle MS, Powelson J et al. Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization. Science 306(5704), 2090-2093 (2004).
-
(2004)
Science
, vol.306
, Issue.5704
, pp. 2090-2093
-
-
Nemeth, E.1
Turtle, M.S.2
Powelson, J.3
-
17
-
-
33748265283
-
Increased adipose tissue expression of hepcidin in severe obesity is independent from diabetes and NASH
-
Bekri S, Gual P, Anty R et al. Increased adipose tissue expression of hepcidin in severe obesity is independent from diabetes and NASH. Gastroenterology 131(3), 788-796 (2006).
-
(2006)
Gastroenterology
, vol.131
, Issue.3
, pp. 788-796
-
-
Bekri, S.1
Gual, P.2
Anty, R.3
-
18
-
-
33646427702
-
TLR4-dependent hepcidin expression by myeloid cells in response to bacterial pathogens
-
Peyssonnaux C, Zinkernagel AS, Datta V, Lauth X, Johnson RS, Nizet V. TLR4-dependent hepcidin expression by myeloid cells in response to bacterial pathogens. Blood 107(9), 3727-3732 (2006).
-
(2006)
Blood
, vol.107
, Issue.9
, pp. 3727-3732
-
-
Peyssonnaux, C.1
Zinkernagel, A.S.2
Datta, V.3
Lauth, X.4
Johnson, R.S.5
Nizet, V.6
-
19
-
-
0036791486
-
The gene encoding the iron regulatory peptide hepcidin is regulated by anemia, hypoxia, and inflammation
-
Nicolas G, Chauvet C, Viatte L et al. The gene encoding the iron regulatory peptide hepcidin is regulated by anemia, hypoxia, and inflammation. J. Clin. Invest. 110(7), 1037-1044 (2002).
-
(2002)
J. Clin. Invest
, vol.110
, Issue.7
, pp. 1037-1044
-
-
Nicolas, G.1
Chauvet, C.2
Viatte, L.3
-
20
-
-
33646370235
-
Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression
-
Babitt JL, Huang FW, Wrighting DM et al. Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression. Nat. Genet. 38 (5), 531-539 (2006).
-
(2006)
Nat. Genet
, vol.38
, Issue.5
, pp. 531-539
-
-
Babitt, J.L.1
Huang, F.W.2
Wrighting, D.M.3
-
21
-
-
33745898241
-
Bone morphogenetic proteins 2, 4, and 9 stimulate murine hepcidin I expression independently of Hfe, transferrin receptor 2 (Tfr2), and IL-6
-
Truksa J, Peng H, Lee P, Beutler E. Bone morphogenetic proteins 2, 4, and 9 stimulate murine hepcidin I expression independently of Hfe, transferrin receptor 2 (Tfr2), and IL-6. Proc. Natl Acad. Sci. USA 103(27), 10289-10293 (2006).
-
(2006)
Proc. Natl Acad. Sci. USA
, vol.103
, Issue.27
, pp. 10289-10293
-
-
Truksa, J.1
Peng, H.2
Lee, P.3
Beutler, E.4
-
22
-
-
33644876815
-
A role of SMAD4 in iron metabolism through the positive regulation of hepcidin expression
-
Wang RH, Li C, Xu X et al. A role of SMAD4 in iron metabolism through the positive regulation of hepcidin expression. Cell Metab. 2(6), 399-409 (2005).
-
(2005)
Cell Metab
, vol.2
, Issue.6
, pp. 399-409
-
-
Wang, R.H.1
Li, C.2
Xu, X.3
-
23
-
-
34447137331
-
Modulation of bone morphogenetic protein signaling in vivo regulates systemic iron balance
-
Babitt JL, Huang FW, Xia Y, Sidis Y, Andrews NC, Lin HY. Modulation of bone morphogenetic protein signaling in vivo regulates systemic iron balance. J. Clin. Invest. 117(7), 1933-1939 (2007).
-
(2007)
J. Clin. Invest
, vol.117
, Issue.7
, pp. 1933-1939
-
-
Babitt, J.L.1
Huang, F.W.2
Xia, Y.3
Sidis, Y.4
Andrews, N.C.5
Lin, H.Y.6
-
24
-
-
34548825938
-
Iron transferrin regulates hepcidin synthesis in primary hepatocyte culture through hemojuvelin and BMP2/4
-
Lin L, Valore EV, Nemeth E, Goodnough JB, Gabayan V, Ganz T. Iron transferrin regulates hepcidin synthesis in primary hepatocyte culture through hemojuvelin and BMP2/4. Blood 110(6), 2182-2189 (2007).
-
(2007)
Blood
, vol.110
, Issue.6
, pp. 2182-2189
-
-
Lin, L.1
Valore, E.V.2
Nemeth, E.3
Goodnough, J.B.4
Gabayan, V.5
Ganz, T.6
-
25
-
-
39649115776
-
The transferrin receptor modulates HFE-dependent regulation of hepcidin expression
-
Schmidt PJ, Toran PT, Giannetti AM, Bjorkman PJ, Andrews NC. The transferrin receptor modulates HFE-dependent regulation of hepcidin expression. Cell Metab. 7(3), 205-214 (2008).
-
(2008)
Cell Metab
, vol.7
, Issue.3
, pp. 205-214
-
-
Schmidt, P.J.1
Toran, P.T.2
Giannetti, A.M.3
Bjorkman, P.J.4
Andrews, N.C.5
-
26
-
-
0041677606
-
Principles of interleukin (IL)-6-type cytokine signalling and its regulation
-
Heinrich PC, Behrmann I, Haan S, Hermanns HM, Muller-Newen G, Schaper F. Principles of interleukin (IL)-6-type cytokine signalling and its regulation. Biochem. J. 374(Pt 1), 1-20 (2003).
-
(2003)
Biochem. J
, vol.374
, Issue.PART 1
, pp. 1-20
-
-
Heinrich, P.C.1
Behrmann, I.2
Haan, S.3
Hermanns, H.M.4
Muller-Newen, G.5
Schaper, F.6
-
27
-
-
33846212344
-
STAT3 is required for IL-6-gp130-dependent activation of hepcidin in vivo
-
Pietrangelo A, Dierssen U, Valli L et al. STAT3 is required for IL-6-gp130-dependent activation of hepcidin in vivo. Gastroenterology 132(1), 294-300 (2007).
-
(2007)
Gastroenterology
, vol.132
, Issue.1
, pp. 294-300
-
-
Pietrangelo, A.1
Dierssen, U.2
Valli, L.3
-
28
-
-
33845985236
-
STAT3 mediates hepatic hepcidin expression and its inflammatory stimulation
-
Verga Falzacappa MV, Vujic Spasic M, Kessler R, Stoke J, Hentze MW, Muckenthaler MU. STAT3 mediates hepatic hepcidin expression and its inflammatory stimulation. Blood 109(1), 353-358 (2007).
-
(2007)
Blood
, vol.109
, Issue.1
, pp. 353-358
-
-
Verga Falzacappa, M.V.1
Vujic Spasic, M.2
Kessler, R.3
Stoke, J.4
Hentze, M.W.5
Muckenthaler, M.U.6
-
29
-
-
33751175421
-
Interleukin-6 induces hepcidin expression through STAT3
-
Wrighting DM, Andrews NC. Interleukin-6 induces hepcidin expression through STAT3. Blood 108(9), 3204-3209 (2006).
-
(2006)
Blood
, vol.108
, Issue.9
, pp. 3204-3209
-
-
Wrighting, D.M.1
Andrews, N.C.2
-
30
-
-
34347338700
-
Potentiation of astrogliogenesis by STAT3-mediated activation of bone morphogenetic protein-SMAD signaling in neural stem cells
-
Fukuda S, Abematsu M, Moti H et al. Potentiation of astrogliogenesis by STAT3-mediated activation of bone morphogenetic protein-SMAD signaling in neural stem cells. Mol. Cell. Biol. 27(13), 4931-4937 (2007).
-
(2007)
Mol. Cell. Biol
, vol.27
, Issue.13
, pp. 4931-4937
-
-
Fukuda, S.1
Abematsu, M.2
Moti, H.3
-
31
-
-
34948904750
-
High levels of GDF 15 in thalassemia suppress expression of the iron regulatory protein hepcidin
-
Tanno T, Bhanu NV, Oneal PA et al. High levels of GDF 15 in thalassemia suppress expression of the iron regulatory protein hepcidin. Nat. Med. 13 (9), 1096-1101 (2007).
-
(2007)
Nat. Med
, vol.13
, Issue.9
, pp. 1096-1101
-
-
Tanno, T.1
Bhanu, N.V.2
Oneal, P.A.3
-
32
-
-
0037174609
-
C/EBPa 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 et al. C/EBPa 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. 277(43), 41163-41170 (2002).
-
(2002)
J. Biol. Chem
, vol.277
, Issue.43
, pp. 41163-41170
-
-
Courselaud, B.1
Pigeon, C.2
Inoue, Y.3
-
33
-
-
47049116150
-
Erythropoietin mediates hepcidin expression in hepatocytes through EPOR signalling and regulation of C/EBPa
-
In press
-
Pinto JP, Ribeiro S, Pontes H et al. Erythropoietin mediates hepcidin expression in hepatocytes through EPOR signalling and regulation of C/EBPa. Blood (2008) (In press).
-
(2008)
Blood
-
-
Pinto, J.P.1
Ribeiro, S.2
Pontes, H.3
-
34
-
-
34848886872
-
Role of alcohol in the regulation of iron metabolism
-
Harrison-Findik DD. Role of alcohol in the regulation of iron metabolism. World J. Gastroenterol. 13(37), 4925-4930 (2007).
-
(2007)
World J. Gastroenterol
, vol.13
, Issue.37
, pp. 4925-4930
-
-
Harrison-Findik, D.D.1
-
35
-
-
35348880235
-
Current approaches to the management of hemochromatosis
-
Brissot P, de Bels F. Current approaches to the management of hemochromatosis. Hematology 36-41 (2006).
-
(2006)
Hematology
, pp. 36-41
-
-
Brissot, P.1
de Bels, F.2
-
36
-
-
0030982248
-
A reappraisal of hepatic siderosis in patients with end-stage cirrhosis: Practical implications for the diagnosis of hemochromatosis
-
Deugnier Y, Turlin B, le Quilleuc D et al. A reappraisal of hepatic siderosis in patients with end-stage cirrhosis: practical implications for the diagnosis of hemochromatosis. Am. J. Surg. Pathol. 21(6), 669-675 (1997).
-
(1997)
Am. J. Surg. Pathol
, vol.21
, Issue.6
, pp. 669-675
-
-
Deugnier, Y.1
Turlin, B.2
le Quilleuc, D.3
-
37
-
-
0031043011
-
Hemosiderosis in cirrhosis: A study of 447 native livers
-
Ludwig J, Hashimoto E, Porayko MK, Moyer TP, Baldus WP. Hemosiderosis in cirrhosis: a study of 447 native livers. Gastroenterology 112(3), 882-888 (1997).
-
(1997)
Gastroenterology
, vol.112
, Issue.3
, pp. 882-888
-
-
Ludwig, J.1
Hashimoto, E.2
Porayko, M.K.3
Moyer, T.P.4
Baldus, W.P.5
-
38
-
-
17944369464
-
Screening for hemochromatosis: High prevalence and low morbidity in an unselected population of 65,238 persons
-
Asberg A, Hveem K, Thorstensen K et al. Screening for hemochromatosis: high prevalence and low morbidity in an unselected population of 65,238 persons. Scand. J. Gastroenterol. 36(10), 1108-1115 (2001).
-
(2001)
Scand. J. Gastroenterol
, vol.36
, Issue.10
, pp. 1108-1115
-
-
Asberg, A.1
Hveem, K.2
Thorstensen, K.3
-
39
-
-
20244372858
-
Hemochromatosis and iron-overload screening in a racially diverse population
-
Adams PC, Reboussin DM, Barton JC et al. Hemochromatosis and iron-overload screening in a racially diverse population. N. Engl. J. Med. 352(17), 1769-1778 (2005).
-
(2005)
N. Engl. J. Med
, vol.352
, Issue.17
, pp. 1769-1778
-
-
Adams, P.C.1
Reboussin, D.M.2
Barton, J.C.3
-
40
-
-
38349079861
-
Iron-overload-related disease in HFE hereditary hemochromatosis
-
Allen KJ, Gurrin LC, Constantine CC et al. Iron-overload-related disease in HFE hereditary hemochromatosis. N. Engl. J. Med. 358(3), 221-230 (2008).
-
(2008)
N. Engl. J. Med
, vol.358
, Issue.3
, pp. 221-230
-
-
Allen, K.J.1
Gurrin, L.C.2
Constantine, C.C.3
-
41
-
-
1842579593
-
Hemochromatosis mutations in the general population: Iron overload progression rate
-
Andersen RV, Tybjaerg-Hansen A, Appleyard M, Birgens H, Nordestgaard BG. Hemochromatosis mutations in the general population: iron overload progression rate. Blood 103(8), 2914-2919 (2004).
-
(2004)
Blood
, vol.103
, Issue.8
, pp. 2914-2919
-
-
Andersen, R.V.1
Tybjaerg-Hansen, A.2
Appleyard, M.3
Birgens, H.4
Nordestgaard, B.G.5
-
42
-
-
0037132786
-
Penetrance of 845GA (C282Y) HFE hereditary haemochromatosis mutation in the USA
-
Beutler E, Felitti VJ, Koziol JA, Ho NJ, Gelbart T. Penetrance of 845GA (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet 359(9302), 211-218 (2002).
-
(2002)
Lancet
, vol.359
, Issue.9302
, pp. 211-218
-
-
Beutler, E.1
Felitti, V.J.2
Koziol, J.A.3
Ho, N.J.4
Gelbart, T.5
-
44
-
-
0034883430
-
HFE mutations, iron deficiency and overload in 10,500 blood donors
-
Jackson HA, Carter K, Darke C et al. HFE mutations, iron deficiency and overload in 10,500 blood donors. Br. J. Haematol. 114(2), 474-484 (2001).
-
(2001)
Br. J. Haematol
, vol.114
, Issue.2
, pp. 474-484
-
-
Jackson, H.A.1
Carter, K.2
Darke, C.3
-
45
-
-
18544376989
-
Gender-specific phenotypic expression and screening strategies in C282Y-linked haemochromatosis: A study of 9396 French people
-
Deugnier Y, Jouanolle AM, Chaperon J et al. Gender-specific phenotypic expression and screening strategies in C282Y-linked haemochromatosis: a study of 9396 French people. Br. J. Haematol. 118(4), 1170-1178 (2002).
-
(2002)
Br. J. Haematol
, vol.118
, Issue.4
, pp. 1170-1178
-
-
Deugnier, Y.1
Jouanolle, A.M.2
Chaperon, J.3
-
46
-
-
0031707469
-
Noninvasive prediction of fibrosis in C282Y homozygous hemochromatosis
-
Guyader D, Jacquefinet C, Moirand R et al. Noninvasive prediction of fibrosis in C282Y homozygous hemochromatosis. Gastroenterology 115(4), 929-936 (1998).
-
(1998)
Gastroenterology
, vol.115
, Issue.4
, pp. 929-936
-
-
Guyader, D.1
Jacquefinet, C.2
Moirand, R.3
-
47
-
-
0043234486
-
You may live to the age of more than 100 years even if you are homozygous for a haemochromatosis gene mutation
-
Piippo K, Louhija J, Tilvis R, Kontula K. You may live to the age of more than 100 years even if you are homozygous for a haemochromatosis gene mutation. Eur. J. Clin. Invest. 33(9), 830-831 (2003).
-
(2003)
Eur. J. Clin. Invest
, vol.33
, Issue.9
, pp. 830-831
-
-
Piippo, K.1
Louhija, J.2
Tilvis, R.3
Kontula, K.4
-
48
-
-
0038714006
-
Longevity and carrying the C282Y mutation for haemochromatosis on the FIFE gene: Case control study of 492 French centenarians
-
Coppin H, Bensaid M, Fruchon S, Borot N, Blanche H, Roth MP. Longevity and carrying the C282Y mutation for haemochromatosis on the FIFE gene: case control study of 492 French centenarians. Br. Med. J. 327(7407), 132-133 (2003).
-
(2003)
Br. Med. J
, vol.327
, Issue.7407
, pp. 132-133
-
-
Coppin, H.1
Bensaid, M.2
Fruchon, S.3
Borot, N.4
Blanche, H.5
Roth, M.P.6
-
49
-
-
0036428690
-
No increase in mortality and morbidity among carriers of the C282Y mutation of the hereditary haemochromatosis gene in the oldest old: The Leiden 85-plus study
-
Van Aken MO, De Craen AJ, Gussekloo J et al. No increase in mortality and morbidity among carriers of the C282Y mutation of the hereditary haemochromatosis gene in the oldest old: the Leiden 85-plus study. Eur. J. Clin. Invest. 32(10), 750-754 (2002).
-
(2002)
Eur. J. Clin. Invest
, vol.32
, Issue.10
, pp. 750-754
-
-
Van Aken, M.O.1
De Craen, A.J.2
Gussekloo, J.3
-
51
-
-
0031793132
-
The significance of haemochromatosis gene mutations in the general population: Implications for screening
-
Burt MJ, George PM, Upton JD et al. The significance of haemochromatosis gene mutations in the general population: implications for screening. Gut 43 (6), 830-836 (1998).
-
(1998)
Gut
, vol.43
, Issue.6
, pp. 830-836
-
-
Burt, M.J.1
George, P.M.2
Upton, J.D.3
-
52
-
-
0031839335
-
The effect of HFE mutations on serum ferritin and transferrin saturation in the Jersey population
-
Merryweather-Clarke AT, Worwood M, Parkinson L et al. The effect of HFE mutations on serum ferritin and transferrin saturation in the Jersey population. Br. J. Haematol. 101(2), 369-373 (1998).
-
(1998)
Br. J. Haematol
, vol.101
, Issue.2
, pp. 369-373
-
-
Merryweather-Clarke, A.T.1
Worwood, M.2
Parkinson, L.3
-
53
-
-
0037366790
-
A population-based study of the effect of the HFE C282Y and H63D mutations on iron metabolism
-
Njajou OT, Houwing-Duistermaat JJ, Osborne RH et al. A population-based study of the effect of the HFE C282Y and H63D mutations on iron metabolism. Eur. J. Hum. Genet. 11(3), 225-231 (2003).
-
(2003)
Eur. J. Hum. Genet
, vol.11
, Issue.3
, pp. 225-231
-
-
Njajou, O.T.1
Houwing-Duistermaat, J.J.2
Osborne, R.H.3
-
54
-
-
0031969395
-
Expression of HLA-linked hemochromatosis in subjects homozygous or heterozygous for the C282Y mutation
-
Crawford DH, Jazwinska EC, Cullen LM, Powell LW. Expression of HLA-linked hemochromatosis in subjects homozygous or heterozygous for the C282Y mutation. Gastroenterology 114(5), 1003-1008 (1998).
-
(1998)
Gastroenterology
, vol.114
, Issue.5
, pp. 1003-1008
-
-
Crawford, D.H.1
Jazwinska, E.C.2
Cullen, L.M.3
Powell, L.W.4
-
55
-
-
33750819627
-
The clinical relevance of compound heterozygosity for the C282Y and H63D substitutions in hemochromatosis
-
Walsh A, Dixon JL, Ramm GA et al. The clinical relevance of compound heterozygosity for the C282Y and H63D substitutions in hemochromatosis. Clin. Gastroenterol. Hepatol. 4(11), 1403-1410 (2006).
-
(2006)
Clin. Gastroenterol. Hepatol
, vol.4
, Issue.11
, pp. 1403-1410
-
-
Walsh, A.1
Dixon, J.L.2
Ramm, G.A.3
-
56
-
-
0032927124
-
Phenotypic expression of HFE mutations: A French study of 1110 unrelated iron-overloaded patients and relatives
-
Moirand R, Jouanolle AM, Brissot P, Le Gall JY, David V, Deugnier Y. Phenotypic expression of HFE mutations: a French study of 1110 unrelated iron-overloaded patients and relatives. Gastroenterology 116(2), 372-377 (1999).
-
(1999)
Gastroenterology
, vol.116
, Issue.2
, pp. 372-377
-
-
Moirand, R.1
Jouanolle, A.M.2
Brissot, P.3
Le Gall, J.Y.4
David, V.5
Deugnier, Y.6
-
57
-
-
0034609577
-
The effect of HFE genotypes on measurements of iron overload in patients attending a health appraisal clinic
-
Beutler E, Felitti V, Gelbart T, Ho N. The effect of HFE genotypes on measurements of iron overload in patients attending a health appraisal clinic. Ann. Intern. Med. 133(5), 329-337 (2000).
-
(2000)
Ann. Intern. Med
, vol.133
, Issue.5
, pp. 329-337
-
-
Beutler, E.1
Felitti, V.2
Gelbart, T.3
Ho, N.4
-
58
-
-
0033561342
-
HFE mutations analysis in 711 hemochromatosis probands: Evidence for S65C implication in mild form of hemochromatosis
-
Mura C, Raguenes O, Ferec C. HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis. Blood 93(8), 2502-2505 (1999).
-
(1999)
Blood
, vol.93
, Issue.8
, pp. 2502-2505
-
-
Mura, C.1
Raguenes, O.2
Ferec, C.3
-
59
-
-
0033868022
-
Two novel nonsense mutations of HFE gene in five unrelated italian patients with hemochromatosis
-
Piperno A, Arosio C, Fossati L et al. Two novel nonsense mutations of HFE gene in five unrelated italian patients with hemochromatosis. Gastroenterology 119(2), 441-445 (2000).
-
(2000)
Gastroenterology
, vol.119
, Issue.2
, pp. 441-445
-
-
Piperno, A.1
Arosio, C.2
Fossati, L.3
-
60
-
-
0033002960
-
A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heterozygote
-
Wallace DF, Dooley JS, Walker AP. A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heterozygote. Gastroenterology 116(6), 1409-1412 (1999).
-
(1999)
Gastroenterology
, vol.116
, Issue.6
, pp. 1409-1412
-
-
Wallace, D.F.1
Dooley, J.S.2
Walker, A.P.3
-
61
-
-
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 et al. A homozygous HFE gene splice site mutation (IVS5+1 G/A) in a hereditary hemochromatosis patient of Vietnamese origin. Gastroenterology 122 (3), 789-795 (2002).
-
(2002)
Gastroenterology
, vol.122
, Issue.3
, pp. 789-795
-
-
Steiner, M.1
Ocran, K.2
Genschel, J.3
-
62
-
-
33645969263
-
-
van der AD, Peeters PH, Grobbee DE, Roest M, Voorbij HA, van der Schouw Yr. HFE genotypes and dietary heme iron: no evidence of strong gene-nutrient interaction on serum ferritin concentrations in middle-aged women. Nutr. Metab. Cardiovasc. Dis. 16(1), 60-68 (2006).
-
van der AD, Peeters PH, Grobbee DE, Roest M, Voorbij HA, van der Schouw Yr. HFE genotypes and dietary heme iron: no evidence of strong gene-nutrient interaction on serum ferritin concentrations in middle-aged women. Nutr. Metab. Cardiovasc. Dis. 16(1), 60-68 (2006).
-
-
-
-
63
-
-
27744561330
-
Diet and genetic factors associated with iron status in middle-aged women
-
Cade JE, Moreton JA, O'Hara B et al. Diet and genetic factors associated with iron status in middle-aged women. Am. J. Clin. Nutr. 82(4), 813-820 (2005).
-
(2005)
Am. J. Clin. Nutr
, vol.82
, Issue.4
, pp. 813-820
-
-
Cade, J.E.1
Moreton, J.A.2
O'Hara, B.3
-
64
-
-
0031743057
-
Clinical trial on the effect of regular tea drinking on iron accumulation in genetic haemochromatosis
-
Kakwasser JP, Werner E, Schalk K, Hansen C, Gottschalk R, Seidl C. Clinical trial on the effect of regular tea drinking on iron accumulation in genetic haemochromatosis. Gut 43(5), 699-704 (1998).
-
(1998)
Gut
, vol.43
, Issue.5
, pp. 699-704
-
-
Kakwasser, J.P.1
Werner, E.2
Schalk, K.3
Hansen, C.4
Gottschalk, R.5
Seidl, C.6
-
65
-
-
33644773569
-
Hepcidin is down-regulated in alcoholic liver injury: Implications for the pathogenesis of alcoholic liver disease
-
Bridle K, Cheung TK, Murphy T et al. Hepcidin is down-regulated in alcoholic liver injury: implications for the pathogenesis of alcoholic liver disease. Alcohol Clin. Exp. Res. 30(1), 106-112 (2006).
-
(2006)
Alcohol Clin. Exp. Res
, vol.30
, Issue.1
, pp. 106-112
-
-
Bridle, K.1
Cheung, T.K.2
Murphy, T.3
-
66
-
-
22144484497
-
Hepcidin levels in humans are correlated with hepatic iron stores, hemoglobin levels, and hepatic function
-
Detivaud L, Nemeth E, Boudjema K et al. Hepcidin levels in humans are correlated with hepatic iron stores, hemoglobin levels, and hepatic function. Blood 106(2), 746-748 (2005).
-
(2005)
Blood
, vol.106
, Issue.2
, pp. 746-748
-
-
Detivaud, L.1
Nemeth, E.2
Boudjema, K.3
-
67
-
-
0035125597
-
Severity of iron overload in hemochromatosis: Effect of volunteer blood donation before diagnosis
-
Barton JC, Preston BL, McDonnell SM, Rothenberg BE. Severity of iron overload in hemochromatosis: effect of volunteer blood donation before diagnosis. Transfusion 41(1), 123-129 (2001).
-
(2001)
Transfusion
, vol.41
, Issue.1
, pp. 123-129
-
-
Barton, J.C.1
Preston, B.L.2
McDonnell, S.M.3
Rothenberg, B.E.4
-
68
-
-
27744575138
-
Phenotypic expression in detected C282Y homozygous women depends on body mass index
-
Laine F, Jouannolle AM, Morcet J et al. Phenotypic expression in detected C282Y homozygous women depends on body mass index. J. Hepatol. 43(6), 1055-1059 (2005).
-
(2005)
J. Hepatol
, vol.43
, Issue.6
, pp. 1055-1059
-
-
Laine, F.1
Jouannolle, A.M.2
Morcet, J.3
-
69
-
-
33845614105
-
Increased expression of hepcidin in obese patients: Impact on phenotypic expression of hemochromatosis and pathophysiology of dysmetabolic iron overload syndrome
-
Laine F, Deugnier Y. Increased expression of hepcidin in obese patients: impact on phenotypic expression of hemochromatosis and pathophysiology of dysmetabolic iron overload syndrome. Gastroenterology 131 (6), 2028 (2006).
-
(2006)
Gastroenterology
, vol.131
, Issue.6
, pp. 2028
-
-
Laine, F.1
Deugnier, Y.2
-
70
-
-
0033517343
-
A population-based study of the clinical expression of the hemochromatosis gene
-
Olynyk JK, Cullen DJ, Aquilia S, Rossi E, Summerville L, Powell LW. A population-based study of the clinical expression of the hemochromatosis gene. N. Engl. J. Med. 341(10), 718-724 (1999).
-
(1999)
N. Engl. J. Med
, vol.341
, Issue.10
, pp. 718-724
-
-
Olynyk, J.K.1
Cullen, D.J.2
Aquilia, S.3
Rossi, E.4
Summerville, L.5
Powell, L.W.6
-
71
-
-
0033795335
-
HFE gene mutation (C282Y) and phenotypic expression among a hospitalised population in a high prevalence area of haemochromatosis
-
Distante S, Berg JP, Lande K, Haug E, Bell H. HFE gene mutation (C282Y) and phenotypic expression among a hospitalised population in a high prevalence area of haemochromatosis. Gut 47(4), 575-579 (2000).
-
(2000)
Gut
, vol.47
, Issue.4
, pp. 575-579
-
-
Distante, S.1
Berg, J.P.2
Lande, K.3
Haug, E.4
Bell, H.5
-
72
-
-
27744561637
-
Chronic inflammation does not appear to modify the homozygous hereditary hemochromatosis phenotype
-
Beutler E, Waalen J, Gelbart T. Chronic inflammation does not appear to modify the homozygous hereditary hemochromatosis phenotype. Blood Cells Mol. Dis. 35(3), 326-327, (2005).
-
(2005)
Blood Cells Mol. Dis
, vol.35
, Issue.3
, pp. 326-327
-
-
Beutler, E.1
Waalen, J.2
Gelbart, T.3
-
73
-
-
34548127058
-
Proton pump inhibitors suppress absorption of dietary non-haem iron in hereditary haemochromatosis
-
Hutchinson C, Geissler CA, Powell JJ, Bomford A. Proton pump inhibitors suppress absorption of dietary non-haem iron in hereditary haemochromatosis. Gut 56(9), 1291-1295 (2007).
-
(2007)
Gut
, vol.56
, Issue.9
, pp. 1291-1295
-
-
Hutchinson, C.1
Geissler, C.A.2
Powell, J.J.3
Bomford, A.4
-
74
-
-
34147145982
-
2+ channel blockers reverse iron overload by a new mechanism via divalent metal transporter-1
-
2+ channel blockers reverse iron overload by a new mechanism via divalent metal transporter-1. Nat. Med. 13(4), 448-454 (2007).
-
(2007)
Nat. Med
, vol.13
, Issue.4
, pp. 448-454
-
-
Ludwiczek, S.1
Theurl, I.2
Muckenthaler, M.U.3
-
75
-
-
0030876559
-
Clinical features of genetic hemochromatosis in women compared with men
-
Moirand R, Adams PC, Bicheler V, Brissot P, Deugnier Y. Clinical features of genetic hemochromatosis in women compared with men. Ann. Intern. Med. 127(2), 105-110 (1997).
-
(1997)
Ann. Intern. Med
, vol.127
, Issue.2
, pp. 105-110
-
-
Moirand, R.1
Adams, P.C.2
Bicheler, V.3
Brissot, P.4
Deugnier, Y.5
-
76
-
-
0034707120
-
Disease-related conditions in relatives of patients with hemochromatosis
-
Bulaj ZJ, Ajioka RS, Phillips JD et al. Disease-related conditions in relatives of patients with hemochromatosis. N. Engl. J. Med. 343(21), 1529-1535 (2000).
-
(2000)
N. Engl. J. Med
, vol.343
, Issue.21
, pp. 1529-1535
-
-
Bulaj, Z.J.1
Ajioka, R.S.2
Phillips, J.D.3
-
77
-
-
0036708279
-
Concordance of iron indices in homozygote and heterozygote sibling pairs in hemochromatosis families: Implications for family screening
-
Whiting PW, Fletcher LM, Dixon JK, Gochee P, Powell LW, Crawford DH. Concordance of iron indices in homozygote and heterozygote sibling pairs in hemochromatosis families: implications for family screening. J. Hepatol. 37(3), 309-314 (2002).
-
(2002)
J. Hepatol
, vol.37
, Issue.3
, pp. 309-314
-
-
Whiting, P.W.1
Fletcher, L.M.2
Dixon, J.K.3
Gochee, P.4
Powell, L.W.5
Crawford, D.H.6
-
78
-
-
0033927849
-
Effects of HFE C282Y and H63D polymorphisms and polygenic background on iron stores in a large community sample of twins
-
Whitfield JB, Cullen LM, Jazwinska EC et al. Effects of HFE C282Y and H63D polymorphisms and polygenic background on iron stores in a large community sample of twins. Am. J. Hum. Genet. 66(4), 1246-1258 (2000).
-
(2000)
Am. J. Hum. Genet
, vol.66
, Issue.4
, pp. 1246-1258
-
-
Whitfield, J.B.1
Cullen, L.M.2
Jazwinska, E.C.3
-
79
-
-
2142768213
-
Multigenic control of hepatic iron loading in a murine model of hemochromatosis
-
Bensaid M, Fruchon S, Mazeres C, Bahrain S, Roth MP, Coppin H. Multigenic control of hepatic iron loading in a murine model of hemochromatosis. Gastroenterology 126(5), 1400-1408 (2004).
-
(2004)
Gastroenterology
, vol.126
, Issue.5
, pp. 1400-1408
-
-
Bensaid, M.1
Fruchon, S.2
Mazeres, C.3
Bahrain, S.4
Roth, M.P.5
Coppin, H.6
-
80
-
-
1642367900
-
HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype
-
Jacolot S, Le Gac G, Scotet V, Quere I, Mura C, Ferec C. HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype. Blood 103 (7), 2835-2840 (2004).
-
(2004)
Blood
, vol.103
, Issue.7
, pp. 2835-2840
-
-
Jacolot, S.1
Le Gac, G.2
Scotet, V.3
Quere, I.4
Mura, C.5
Ferec, C.6
-
81
-
-
10744225120
-
Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis
-
Merryweather-Clarke AT, Cadet E, Bomford A et al. Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis. Hum. Mol. Genet. 12(17), 2241-2247 (2003).
-
(2003)
Hum. Mol. Genet
, vol.12
, Issue.17
, pp. 2241-2247
-
-
Merryweather-Clarke, A.T.1
Cadet, E.2
Bomford, A.3
-
82
-
-
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 et al. The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype. Hum. Mol. Genet. 13(17), 1913-1918 (2004).
-
(2004)
Hum. Mol. Genet
, vol.13
, Issue.17
, pp. 1913-1918
-
-
Le Gac, G.1
Scotet, V.2
Ka, C.3
-
83
-
-
35349002878
-
Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance
-
Milet J, Dehais V, Bourgain C et al. Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance. Am. J. Hum. Genet. 81(4), 799-807 (2007).
-
(2007)
Am. J. Hum. Genet
, vol.81
, Issue.4
, pp. 799-807
-
-
Milet, J.1
Dehais, V.2
Bourgain, C.3
-
84
-
-
0036163634
-
Excess alcohol greatly increases the prevalence of cirrhosis in hereditary hemochromatosis
-
Fletcher LM, Dixon JL, Purdie DM, Powell LW, Crawford DH. Excess alcohol greatly increases the prevalence of cirrhosis in hereditary hemochromatosis. Gastroenterology 122(2), 281-289 (2002).
-
(2002)
Gastroenterology
, vol.122
, Issue.2
, pp. 281-289
-
-
Fletcher, L.M.1
Dixon, J.L.2
Purdie, D.M.3
Powell, L.W.4
Crawford, D.H.5
-
85
-
-
0026732182
-
Liver fibrosis in genetic hemochromatosis. Respective roles of iron and non-iron-related factors in 127 homozygous patients
-
Loreal O, Deugnier Y, Moirand R et al. Liver fibrosis in genetic hemochromatosis. Respective roles of iron and non-iron-related factors in 127 homozygous patients. J. Hepatol. 16(1-2), 122-127 (1992).
-
(1992)
J. Hepatol
, vol.16
, Issue.1-2
, pp. 122-127
-
-
Loreal, O.1
Deugnier, Y.2
Moirand, R.3
-
86
-
-
28844482171
-
Steatosis is a cofactor in liver injury in hemochromatosis
-
Powell EE, Ali A, Clouston AD et al. Steatosis is a cofactor in liver injury in hemochromatosis. Gastroenterology 129(6), 1937-1943 (2005).
-
(2005)
Gastroenterology
, vol.129
, Issue.6
, pp. 1937-1943
-
-
Powell, E.E.1
Ali, A.2
Clouston, A.D.3
-
87
-
-
9144251568
-
The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading
-
Livesey KJ, Wimhurst VL, Carter K et al. The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading, J. Med. Genet. 41(1), 6-10 (2004).
-
(2004)
J. Med. Genet
, vol.41
, Issue.1
, pp. 6-10
-
-
Livesey, K.J.1
Wimhurst, V.L.2
Carter, K.3
-
88
-
-
7444225828
-
The mitochondrial nt 16189 polymorphism and hereditary hemochromatosis
-
Beutler E, Beutler L, Lee PL, Barton JC. The mitochondrial nt 16189 polymorphism and hereditary hemochromatosis. Blood Cells Mol. Dis. 33(3), 344-345 (2004).
-
(2004)
Blood Cells Mol. Dis
, vol.33
, Issue.3
, pp. 344-345
-
-
Beutler, E.1
Beutler, L.2
Lee, P.L.3
Barton, J.C.4
-
89
-
-
21344463609
-
TGF-β1 codon 25 gene polymorphism is associated with cirrhosis in patients with hereditary hemochromatosis
-
Osterreicher CH, Datz C, Stickel F et al. TGF-β1 codon 25 gene polymorphism is associated with cirrhosis in patients with hereditary hemochromatosis. Cytokine 31(2), 142-148 (2005).
-
(2005)
Cytokine
, vol.31
, Issue.2
, pp. 142-148
-
-
Osterreicher, C.H.1
Datz, C.2
Stickel, F.3
-
90
-
-
19944401844
-
The mitochondrial superoxide dismutase A16V polymorphism in the cardiomyopathy associated with hereditary haemochromatosis
-
Valenti L, Conte D, Piperno A et al. The mitochondrial superoxide dismutase A16V polymorphism in the cardiomyopathy associated with hereditary haemochromatosis. J. Med. Genet. 41(12), 946-950 (2004).
-
(2004)
J. Med. Genet
, vol.41
, Issue.12
, pp. 946-950
-
-
Valenti, L.1
Conte, D.2
Piperno, A.3
|