-
1
-
-
18244399587
-
Slc11a2 is required for intestinal iron absorption and erythropoiesis but dispensable in placenta and liver
-
Gunshin H., Fujiwara Y., Custodio A.O., et al. Slc11a2 is required for intestinal iron absorption and erythropoiesis but dispensable in placenta and liver. J Clin Invest 2005, 115(5):1258-1266.
-
(2005)
J Clin Invest
, vol.115
, Issue.5
, pp. 1258-1266
-
-
Gunshin, H.1
Fujiwara, Y.2
Custodio, A.O.3
-
2
-
-
0034677467
-
Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter
-
Donovan A., Brownlie A., Zhou Y., et al. Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter. Nature 2000, 403(6771):776-781.
-
(2000)
Nature
, vol.403
, Issue.6771
, pp. 776-781
-
-
Donovan, A.1
Brownlie, A.2
Zhou, Y.3
-
3
-
-
0035896642
-
Hepcidin, a urinary antimicrobial peptide synthesized in the liver
-
Park C.H., Valore E.V., Waring A.J., et al. Hepcidin, a urinary antimicrobial peptide synthesized in the liver. J Biol Chem 2001, 276(11):7806-7810.
-
(2001)
J Biol Chem
, vol.276
, Issue.11
, pp. 7806-7810
-
-
Park, C.H.1
Valore, E.V.2
Waring, A.J.3
-
4
-
-
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., 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 2001, 276(11):7811-7819.
-
(2001)
J Biol Chem
, vol.276
, Issue.11
, pp. 7811-7819
-
-
Pigeon, C.1
Ilyin, G.2
Courselaud, B.3
-
5
-
-
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 U S A 2001, 98(15):8780-8785.
-
(2001)
Proc Natl Acad Sci U S A
, vol.98
, Issue.15
, pp. 8780-8785
-
-
Nicolas, G.1
Bennoun, M.2
Devaux, I.3
-
6
-
-
10844258104
-
Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization
-
Nemeth E., Tuttle M.S., Powelson J., et al. Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization. Science 2004, 306(5704):2090-2093.
-
(2004)
Science
, vol.306
, Issue.5704
, pp. 2090-2093
-
-
Nemeth, E.1
Tuttle, M.S.2
Powelson, J.3
-
7
-
-
63449122819
-
Lack of the bone morphogenetic protein BMP6 induces massive iron overload
-
Meynard D., Kautz L., Darnaud V., et al. Lack of the bone morphogenetic protein BMP6 induces massive iron overload. Nat Genet 2009, 41(4):478-481.
-
(2009)
Nat Genet
, vol.41
, Issue.4
, pp. 478-481
-
-
Meynard, D.1
Kautz, L.2
Darnaud, V.3
-
8
-
-
33749393565
-
Hereditary hemochromatosis protein, HFE, interaction with transferrin receptor 2 suggests a molecular mechanism for mammalian iron sensing
-
Goswami T., Andrews N.C. Hereditary hemochromatosis protein, HFE, interaction with transferrin receptor 2 suggests a molecular mechanism for mammalian iron sensing. J Biol Chem 2006, 281(39):28494-28498.
-
(2006)
J Biol Chem
, vol.281
, Issue.39
, pp. 28494-28498
-
-
Goswami, T.1
Andrews, N.C.2
-
9
-
-
19544386871
-
Hepcidin in iron overload disorders
-
Papanikolaou G., Tzilianos M., Christakis J.I., et al. Hepcidin in iron overload disorders. Blood 2005, 105(10):4103-4105.
-
(2005)
Blood
, vol.105
, Issue.10
, pp. 4103-4105
-
-
Papanikolaou, G.1
Tzilianos, M.2
Christakis, J.I.3
-
10
-
-
84896739882
-
Liver transplantation normalizes serum hepcidin level and cures iron metabolism alterations in HFE hemochromatosis
-
Bardou-Jacquet E., Philip J., Lorho R., et al. Liver transplantation normalizes serum hepcidin level and cures iron metabolism alterations in HFE hemochromatosis. Hepatology 2014, 59(3):839-847.
-
(2014)
Hepatology
, vol.59
, Issue.3
, pp. 839-847
-
-
Bardou-Jacquet, E.1
Philip, J.2
Lorho, R.3
-
11
-
-
21144441802
-
Redox active plasma iron in C282Y/C282Y hemochromatosis
-
Le Lan C., Loreal O., Cohen T., et al. Redox active plasma iron in C282Y/C282Y hemochromatosis. Blood 2005, 105(11):4527-4531.
-
(2005)
Blood
, vol.105
, Issue.11
, pp. 4527-4531
-
-
Le Lan, C.1
Loreal, O.2
Cohen, T.3
-
12
-
-
32544437693
-
Iron overload due to mutations in ferroportin
-
De Domenico I., Ward D.M., Musci G., et al. Iron overload due to mutations in ferroportin. Haematologica 2006, 91(1):92-95.
-
(2006)
Haematologica
, vol.91
, Issue.1
, pp. 92-95
-
-
De Domenico, I.1
Ward, D.M.2
Musci, G.3
-
13
-
-
23044508432
-
Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin
-
Drakesmith H., Schimanski L.M., Ormerod E., et al. Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin. Blood 2005, 106(3):1092-1097.
-
(2005)
Blood
, vol.106
, Issue.3
, pp. 1092-1097
-
-
Drakesmith, H.1
Schimanski, L.M.2
Ormerod, E.3
-
14
-
-
38349079861
-
Iron-overload-related disease in HFE hereditary hemochromatosis
-
Allen K.J., Gurrin L.C., Constantine C.C., et al. Iron-overload-related disease in HFE hereditary hemochromatosis. N Engl J Med 2008, 358(3):221-230.
-
(2008)
N Engl J Med
, vol.358
, Issue.3
, pp. 221-230
-
-
Allen, K.J.1
Gurrin, L.C.2
Constantine, C.C.3
-
15
-
-
0037132786
-
Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA
-
Beutler E., Felitti V.J., Koziol J.A., et al. Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet 2002, 359(9302):211-218.
-
(2002)
Lancet
, vol.359
, Issue.9302
, pp. 211-218
-
-
Beutler, E.1
Felitti, V.J.2
Koziol, J.A.3
-
16
-
-
77953120762
-
EASL clinical practice guidelines for HFE hemochromatosis
-
EASL
-
EASL EASL clinical practice guidelines for HFE hemochromatosis. J Hepatol 2010, 53(1):3-22.
-
(2010)
J Hepatol
, vol.53
, Issue.1
, pp. 3-22
-
-
-
17
-
-
0030876559
-
Clinical features of genetic hemochromatosis in women compared with men
-
Moirand R., Adams P.C., Bicheler V., et al. Clinical features of genetic hemochromatosis in women compared with men. Ann Intern Med 1997, 127(2):105-110.
-
(1997)
Ann Intern Med
, vol.127
, Issue.2
, pp. 105-110
-
-
Moirand, R.1
Adams, P.C.2
Bicheler, V.3
-
18
-
-
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 1992, 16(1-2):122-127.
-
(1992)
J Hepatol
, vol.16
, Issue.1-2
, pp. 122-127
-
-
Loreal, O.1
Deugnier, Y.2
Moirand, R.3
-
19
-
-
84876743784
-
Decreased iron burden in overweight C282Y homozygous women: putative role of increased hepcidin production
-
Desgrippes R., Laine F., Morcet J., et al. Decreased iron burden in overweight C282Y homozygous women: putative role of increased hepcidin production. Hepatology 2013, 57(5):1784-1792.
-
(2013)
Hepatology
, vol.57
, Issue.5
, pp. 1784-1792
-
-
Desgrippes, R.1
Laine, F.2
Morcet, J.3
-
20
-
-
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 2007, 81(4):799-807.
-
(2007)
Am J Hum Genet
, vol.81
, Issue.4
, pp. 799-807
-
-
Milet, J.1
Dehais, V.2
Bourgain, C.3
-
21
-
-
84902978429
-
Evaluation of genome-wide loci of iron metabolism in hereditary hemochromatosis identifies PCSK7 as a host risk factor of liver cirrhosis
-
[Epub ahead of print]
-
Stickel F., Buch S., Zoller H., et al. Evaluation of genome-wide loci of iron metabolism in hereditary hemochromatosis identifies PCSK7 as a host risk factor of liver cirrhosis. Hum Mol Genet 2014, [Epub ahead of print].
-
(2014)
Hum Mol Genet
-
-
Stickel, F.1
Buch, S.2
Zoller, H.3
-
22
-
-
35449004475
-
Biological variability of transferrin saturation and unsaturated iron-binding capacity
-
999.e1-999.e7
-
Adams P.C., Reboussin D.M., Press R.D., et al. Biological variability of transferrin saturation and unsaturated iron-binding capacity. Am J Med 2007, 120(11):999.e1-999.e7.
-
(2007)
Am J Med
, vol.120
, Issue.11
-
-
Adams, P.C.1
Reboussin, D.M.2
Press, R.D.3
-
23
-
-
0029913626
-
Long-term survival in patients with hereditary hemochromatosis
-
Niederau C., Fischer R., Purschel A., et al. Long-term survival in patients with hereditary hemochromatosis. Gastroenterology 1996, 110(4):1107-1119.
-
(1996)
Gastroenterology
, vol.110
, Issue.4
, pp. 1107-1119
-
-
Niederau, C.1
Fischer, R.2
Purschel, A.3
-
24
-
-
0036727322
-
Noninvasive prediction of cirrhosis in C282Y-linked hemochromatosis
-
Beaton M., Guyader D., Deugnier Y., et al. Noninvasive prediction of cirrhosis in C282Y-linked hemochromatosis. Hepatology 2002, 36(3):673-678.
-
(2002)
Hepatology
, vol.36
, Issue.3
, pp. 673-678
-
-
Beaton, M.1
Guyader, D.2
Deugnier, Y.3
-
25
-
-
61949381998
-
Serum hyaluronic acid with serum ferritin accurately predicts cirrhosis and reduces the need for liver biopsy in C282Y hemochromatosis
-
Crawford D.H., Murphy T.L., Ramm L.E., et al. Serum hyaluronic acid with serum ferritin accurately predicts cirrhosis and reduces the need for liver biopsy in C282Y hemochromatosis. Hepatology 2009, 49(2):418-425.
-
(2009)
Hepatology
, vol.49
, Issue.2
, pp. 418-425
-
-
Crawford, D.H.1
Murphy, T.L.2
Ramm, L.E.3
-
26
-
-
0031707469
-
Noninvasive prediction of fibrosis in C282Y homozygous hemochromatosis
-
Guyader D., Jacquelinet C., Moirand R., et al. Noninvasive prediction of fibrosis in C282Y homozygous hemochromatosis. Gastroenterology 1998, 115(4):929-936.
-
(1998)
Gastroenterology
, vol.115
, Issue.4
, pp. 929-936
-
-
Guyader, D.1
Jacquelinet, C.2
Moirand, R.3
-
27
-
-
78149284772
-
Iron-overload cardiomyopathy: pathophysiology, diagnosis, and treatment
-
Murphy C.J., Oudit G.Y. Iron-overload cardiomyopathy: pathophysiology, diagnosis, and treatment. J Card Fail 2010, 16(11):888-900.
-
(2010)
J Card Fail
, vol.16
, Issue.11
, pp. 888-900
-
-
Murphy, C.J.1
Oudit, G.Y.2
-
28
-
-
79953179698
-
Sex and acquired cofactors determine phenotypes of ferroportin disease
-
1199-1207.e1-2
-
Le Lan C., Mosser A., Ropert M., et al. Sex and acquired cofactors determine phenotypes of ferroportin disease. Gastroenterology 2011, 140(4):1199-1207.e1-2.
-
(2011)
Gastroenterology
, vol.140
, Issue.4
-
-
Le Lan, C.1
Mosser, A.2
Ropert, M.3
-
29
-
-
9344224529
-
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
-
Feder J.N., Gnirke A., Thomas W., et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996, 13(4):399-408.
-
(1996)
Nat Genet
, vol.13
, Issue.4
, pp. 399-408
-
-
Feder, J.N.1
Gnirke, A.2
Thomas, W.3
-
30
-
-
33750819627
-
The clinical relevance of compound heterozygosity for the C282Y and H63D substitutions in hemochromatosis
-
Walsh A., Dixon J.L., Ramm G.A., et al. The clinical relevance of compound heterozygosity for the C282Y and H63D substitutions in hemochromatosis. Clin Gastroenterol Hepatol 2006, 4(11):1403-1410.
-
(2006)
Clin Gastroenterol Hepatol
, vol.4
, Issue.11
, pp. 1403-1410
-
-
Walsh, A.1
Dixon, J.L.2
Ramm, G.A.3
-
31
-
-
79953836125
-
Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants
-
Aguilar-Martinez P., Grandchamp B., Cunat S., et al. Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants. Haematologica 2011, 96(4):507-514.
-
(2011)
Haematologica
, vol.96
, Issue.4
, pp. 507-514
-
-
Aguilar-Martinez, P.1
Grandchamp, B.2
Cunat, S.3
-
32
-
-
9144252017
-
Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis
-
Papanikolaou G., Samuels M.E., Ludwig E.H., et al. Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. Nat Genet 2004, 36(1):77-82.
-
(2004)
Nat Genet
, vol.36
, Issue.1
, pp. 77-82
-
-
Papanikolaou, G.1
Samuels, M.E.2
Ludwig, E.H.3
-
33
-
-
20244388240
-
Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis
-
Roetto A., Papanikolaou G., Politou M., et al. Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. Nat Genet 2003, 33(1):21-22.
-
(2003)
Nat Genet
, vol.33
, Issue.1
, pp. 21-22
-
-
Roetto, A.1
Papanikolaou, G.2
Politou, M.3
-
34
-
-
1942445099
-
Homozygosity for transferrin receptor-2 Y250X mutation induces early iron overload
-
Piperno A., Roetto A., Mariani R., et al. Homozygosity for transferrin receptor-2 Y250X mutation induces early iron overload. Haematologica 2004, 89(3):359-360.
-
(2004)
Haematologica
, vol.89
, Issue.3
, pp. 359-360
-
-
Piperno, A.1
Roetto, A.2
Mariani, R.3
-
35
-
-
84879842417
-
Variable age of onset and clinical severity in transferrin receptor 2 related haemochromatosis: novel observations
-
Bardou-Jacquet E., Cunat S., Beaumont-Epinette M.P., et al. Variable age of onset and clinical severity in transferrin receptor 2 related haemochromatosis: novel observations. Br J Haematol 2013, 162(2):278-281.
-
(2013)
Br J Haematol
, vol.162
, Issue.2
, pp. 278-281
-
-
Bardou-Jacquet, E.1
Cunat, S.2
Beaumont-Epinette, M.P.3
-
36
-
-
0034930197
-
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
-
Njajou O.T., Vaessen N., Joosse M., et al. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. Nat Genet 2001, 28(3):213-214.
-
(2001)
Nat Genet
, vol.28
, Issue.3
, pp. 213-214
-
-
Njajou, O.T.1
Vaessen, N.2
Joosse, M.3
-
37
-
-
84885433847
-
Ferroportin diseases: functional studies, a link between genetic and clinical phenotype
-
Detivaud L., Island M.L., Jouanolle A.M., et al. Ferroportin diseases: functional studies, a link between genetic and clinical phenotype. Hum Mutat 2013, 34(11):1529-1536.
-
(2013)
Hum Mutat
, vol.34
, Issue.11
, pp. 1529-1536
-
-
Detivaud, L.1
Island, M.L.2
Jouanolle, A.M.3
-
38
-
-
84868526205
-
Hepcidin and the iron-infection axis
-
Drakesmith H., Prentice A.M. Hepcidin and the iron-infection axis. Science 2012, 338(6108):768-772.
-
(2012)
Science
, vol.338
, Issue.6108
, pp. 768-772
-
-
Drakesmith, H.1
Prentice, A.M.2
-
39
-
-
0037354313
-
Aceruloplasminemia, an inherited disorder of iron metabolism
-
Miyajima H., Takahashi Y., Kono S. Aceruloplasminemia, an inherited disorder of iron metabolism. Biometals 2003, 16(1):205-213.
-
(2003)
Biometals
, vol.16
, Issue.1
, pp. 205-213
-
-
Miyajima, H.1
Takahashi, Y.2
Kono, S.3
-
40
-
-
84899890153
-
The erythroid factor erythroferrone and its role in iron homeostasis
-
[abstract]
-
Kautz L., Jung G., Nemeth E., et al. The erythroid factor erythroferrone and its role in iron homeostasis. Blood 2013, 122(21):4. [abstract].
-
(2013)
Blood
, vol.122
, Issue.21
, pp. 4
-
-
Kautz, L.1
Jung, G.2
Nemeth, E.3
|