-
1
-
-
77955508573
-
Hereditary hemochromatosis: pathogenesis, diagnosis, and treatment
-
Pietrangelo A. Hereditary hemochromatosis: pathogenesis, diagnosis, and treatment. Gastroenterology 2010; 139: 393-408.
-
(2010)
Gastroenterology
, vol.139
, pp. 393-408
-
-
Pietrangelo, A.1
-
2
-
-
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 1999; 341: 718-724.
-
(1999)
N Engl J Med
, vol.341
, pp. 718-724
-
-
Olynyk, J.K.1
Cullen, D.J.2
Aquilia, S.3
Rossi, E.4
Summerville, L.5
Powell, L.W.6
-
3
-
-
9344224529
-
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
-
Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, et al. 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
Tsuchihashi, Z.4
Ruddy, D.A.5
Basava, A.6
-
4
-
-
38349079861
-
Iron-overload-related disease in HFE hereditary hemochromatosis
-
Allen KJ, Gurrin LC, Constantine CC, Osborne NJ, Delatycki MB, Nicoll AJ, et al. Iron-overload-related disease in HFE hereditary hemochromatosis. N Engl J Med 2008; 358: 221-230.
-
(2008)
N Engl J Med
, vol.358
, pp. 221-230
-
-
Allen, K.J.1
Gurrin, L.C.2
Constantine, C.C.3
Osborne, N.J.4
Delatycki, M.B.5
Nicoll, A.J.6
-
5
-
-
20244388240
-
Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis
-
Roetto A, Papanikolaou G, Politou M, Alberti F, Girelli D, Christakis J, et al. 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
Alberti, F.4
Girelli, D.5
Christakis, J.6
-
6
-
-
0036242163
-
Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene
-
Girelli D, Bozzini C, Roetto A, Alberti F, Daraio F, Colombari R, et al. Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene. Gastroenterology 2002; 122: 1295-1302.
-
(2002)
Gastroenterology
, vol.122
, pp. 1295-1302
-
-
Girelli, D.1
Bozzini, C.2
Roetto, A.3
Alberti, F.4
Daraio, F.5
Colombari, R.6
-
7
-
-
17944380796
-
Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene
-
Montosi G, Donovan A, Totaro A, Garuti C, Pignatti E, Cassanelli S, et al. Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. J Clin Invest 2001; 108: 619-623.
-
(2001)
J Clin Invest
, vol.108
, pp. 619-623
-
-
Montosi, G.1
Donovan, A.2
Totaro, A.3
Garuti, C.4
Pignatti, E.5
Cassanelli, S.6
-
8
-
-
51549106718
-
Hereditary hemochromatosis in the post-HFE era
-
Olynyk JK, Trinder D, Ramm GA, Britton RS, Bacon BR. Hereditary hemochromatosis in the post-HFE era. HEPATOLOGY 2008; 48: 991-1001.
-
(2008)
HEPATOLOGY
, vol.48
, pp. 991-1001
-
-
Olynyk, J.K.1
Trinder, D.2
Ramm, G.A.3
Britton, R.S.4
Bacon, B.R.5
-
9
-
-
0031054425
-
Hepatic stellate cell activation in genetic haemochromatosis. Lobular distribution, effect of increasing hepatic iron, and response to phlebotomy
-
Ramm GA, Crawford DH, Powell LW, Walker NI, Fletcher LM, Halliday JW. Hepatic stellate cell activation in genetic haemochromatosis. Lobular distribution, effect of increasing hepatic iron, and response to phlebotomy. J Hepatol 1997; 26: 584-592.
-
(1997)
J Hepatol
, vol.26
, pp. 584-592
-
-
Ramm, G.A.1
Crawford, D.H.2
Powell, L.W.3
Walker, N.I.4
Fletcher, L.M.5
Halliday, J.W.6
-
10
-
-
0035124088
-
Is there a threshold of hepatic iron concentration that leads to cirrhosis in C282Y hemochromatosis?
-
Adams PC. Is there a threshold of hepatic iron concentration that leads to cirrhosis in C282Y hemochromatosis? Am J Gastroenterol 2001; 96: 567-569.
-
(2001)
Am J Gastroenterol
, vol.96
, pp. 567-569
-
-
Adams, P.C.1
-
11
-
-
0032031941
-
Enhanced gamma-glutamyl transpeptidase expression and selective loss of CuZn superoxide dismutase in hepatic iron overload
-
Brown KE, Kinter MT, Oberley TD, Freeman ML, Frierson HF, Ridnour LA, et al. Enhanced gamma-glutamyl transpeptidase expression and selective loss of CuZn superoxide dismutase in hepatic iron overload. Free Radic Biol Med 1998; 24: 545-555.
-
(1998)
Free Radic Biol Med
, vol.24
, pp. 545-555
-
-
Brown, K.E.1
Kinter, M.T.2
Oberley, T.D.3
Freeman, M.L.4
Frierson, H.F.5
Ridnour, L.A.6
-
12
-
-
0029959755
-
Oxidative stress and antioxidant status in beta-thalassemia major: iron overload and depletion of lipid-soluble antioxidants
-
Livrea MA, Tesoriere L, Pintaudi AM, Calabrese A, Maggio A, Freisleben HJ, et al. Oxidative stress and antioxidant status in beta-thalassemia major: iron overload and depletion of lipid-soluble antioxidants. Blood 1996; 88: 3608-3614.
-
(1996)
Blood
, vol.88
, pp. 3608-3614
-
-
Livrea, M.A.1
Tesoriere, L.2
Pintaudi, A.M.3
Calabrese, A.4
Maggio, A.5
Freisleben, H.J.6
-
13
-
-
36248946663
-
Elevated F2-isoprostanes in thalassemic patients
-
Matayatsuk C, Lee CY, Kalpravidh RW, Sirankapracha P, Wilairat P, Fucharoen S, et al. Elevated F2-isoprostanes in thalassemic patients. Free Radic Biol Med 2007; 43: 1649-1655.
-
(2007)
Free Radic Biol Med
, vol.43
, pp. 1649-1655
-
-
Matayatsuk, C.1
Lee, C.Y.2
Kalpravidh, R.W.3
Sirankapracha, P.4
Wilairat, P.5
Fucharoen, S.6
-
14
-
-
0028986148
-
Formation of 1,N6-ethenoadenine and 3,N4-ethenocytosine by lipid peroxidation products and nucleic acid bases
-
El Ghissassi F, Barbin A, Nair J, Bartsch H. Formation of 1, N6-ethenoadenine and 3, N4-ethenocytosine by lipid peroxidation products and nucleic acid bases. Chem Res Toxicol 1995; 8: 278-283.
-
(1995)
Chem Res Toxicol
, vol.8
, pp. 278-283
-
-
El Ghissassi, F.1
Barbin, A.2
Nair, J.3
Bartsch, H.4
-
15
-
-
10744232491
-
Cancer risk in patients with hereditary hemochromatosis and in their first-degree relatives
-
Elmberg M, Hultcrantz R, Ekbom A, Brandt L, Olsson S, Olsson R, et al. Cancer risk in patients with hereditary hemochromatosis and in their first-degree relatives. Gastroenterology 2003; 125: 1733-1741.
-
(2003)
Gastroenterology
, vol.125
, pp. 1733-1741
-
-
Elmberg, M.1
Hultcrantz, R.2
Ekbom, A.3
Brandt, L.4
Olsson, S.5
Olsson, R.6
-
17
-
-
63449086727
-
Function of the hemochromatosis protein HFE: lessons from animal models
-
Pantopoulos K. Function of the hemochromatosis protein HFE: lessons from animal models. World J Gastroenterol 2008; 14: 6893-6901.
-
(2008)
World J Gastroenterol
, vol.14
, pp. 6893-6901
-
-
Pantopoulos, K.1
-
18
-
-
0001376313
-
HFE gene knockout produces mouse model of hereditary hemochromatosis
-
Zhou XY, Tomatsu S, Fleming RE, Parkkila S, Waheed A, Jiang J, et al. HFE gene knockout produces mouse model of hereditary hemochromatosis. Proc Natl Acad Sci U S A 1998; 95: 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
-
19
-
-
0036678091
-
Targeted mutagenesis of the murine transferrin receptor-2 gene produces hemochromatosis
-
Fleming RE, Ahmann JR, Migas MC, Waheed A, Koeffler HP, Kawabata H, et al. Targeted mutagenesis of the murine transferrin receptor-2 gene produces hemochromatosis. Proc Natl Acad Sci U S A 2002; 99: 10653-10658.
-
(2002)
Proc Natl Acad Sci U S A
, vol.99
, pp. 10653-10658
-
-
Fleming, R.E.1
Ahmann, J.R.2
Migas, M.C.3
Waheed, A.4
Koeffler, H.P.5
Kawabata, H.6
-
20
-
-
80055062409
-
Altered lipid metabolism in Hfe-knockout mice promotes severe NAFLD and early fibrosis
-
Tan TC, Crawford DH, Jaskowski LA, Murphy TM, Heritage ML, Subramaniam VN, et al. Altered lipid metabolism in Hfe-knockout mice promotes severe NAFLD and early fibrosis. Am J Physiol Gastrointest Liver Physiol 2011; 301: G865-G876.
-
(2011)
Am J Physiol Gastrointest Liver Physiol
, vol.301
-
-
Tan, T.C.1
Crawford, D.H.2
Jaskowski, L.A.3
Murphy, T.M.4
Heritage, M.L.5
Subramaniam, V.N.6
-
21
-
-
77249170726
-
Iron uptake from plasma transferrin by a transferrin receptor 2 mutant mouse model of haemochromatosis
-
Chua AC, Delima RD, Morgan EH, Herbison CE, Tirnitz-Parker JE, Graham RM, et al. Iron uptake from plasma transferrin by a transferrin receptor 2 mutant mouse model of haemochromatosis. J Hepatol 2010; 52: 425-431.
-
(2010)
J Hepatol
, vol.52
, pp. 425-431
-
-
Chua, A.C.1
Delima, R.D.2
Morgan, E.H.3
Herbison, C.E.4
Tirnitz-Parker, J.E.5
Graham, R.M.6
-
22
-
-
51649096725
-
Iron regulates phosphorylation of Smad1/5/8 and gene expression of Bmp6, Smad7, Id1, and Atoh8 in the mouse liver
-
Kautz L, Meynard D, Monnier A, Darnaud V, Bouvet R, Wang RH, et al. Iron regulates phosphorylation of Smad1/5/8 and gene expression of Bmp6, Smad7, Id1, and Atoh8 in the mouse liver. Blood 2008; 112: 1503-1509.
-
(2008)
Blood
, vol.112
, pp. 1503-1509
-
-
Kautz, L.1
Meynard, D.2
Monnier, A.3
Darnaud, V.4
Bouvet, R.5
Wang, R.H.6
-
23
-
-
80052666748
-
Iron regulation of hepcidin despite attenuated Smad1,5,8 signaling in mice without transferrin receptor 2 or Hfe
-
Corradini E, Rozier M, Meynard D, Odhiambo A, Lin HY, Feng Q, et al. Iron regulation of hepcidin despite attenuated Smad1, 5, 8 signaling in mice without transferrin receptor 2 or Hfe. Gastroenterology 2011; 141: 1907-1914.
-
(2011)
Gastroenterology
, vol.141
, pp. 1907-1914
-
-
Corradini, E.1
Rozier, M.2
Meynard, D.3
Odhiambo, A.4
Lin, H.Y.5
Feng, Q.6
-
24
-
-
33846164453
-
Iron absorption and hepatic iron uptake are increased in a transferrin receptor 2 (Y245X) mutant mouse model of hemochromatosis type 3
-
Drake SF, Morgan EH, Herbison CE, Delima R, Graham RM, Chua AC, et al. Iron absorption and hepatic iron uptake are increased in a transferrin receptor 2 (Y245X) mutant mouse model of hemochromatosis type 3. Am J Physiol Gastrointest Liver Physiol 2007; 292: G323-G328.
-
(2007)
Am J Physiol Gastrointest Liver Physiol
, vol.292
-
-
Drake, S.F.1
Morgan, E.H.2
Herbison, C.E.3
Delima, R.4
Graham, R.M.5
Chua, A.C.6
-
25
-
-
0013667111
-
Studies on intermediary iron metabolism. V. The measurement of non-haemoglobin tissue iron
-
Kaldor I. Studies on intermediary iron metabolism. V. The measurement of non-haemoglobin tissue iron. Aust J Exp Biol Med Sci 1954; 32: 795-799.
-
(1954)
Aust J Exp Biol Med Sci
, vol.32
, pp. 795-799
-
-
Kaldor, I.1
-
26
-
-
77954227963
-
Tumor necrosis factor-like weak inducer of apoptosis is a mitogen for liver progenitor cells
-
Tirnitz-Parker JE, Viebahn CS, Jakubowski A, Klopcic BR, Olynyk JK, Yeoh GC, et al. Tumor necrosis factor-like weak inducer of apoptosis is a mitogen for liver progenitor cells. HEPATOLOGY 2010; 52: 291-302.
-
(2010)
HEPATOLOGY
, vol.52
, pp. 291-302
-
-
Tirnitz-Parker, J.E.1
Viebahn, C.S.2
Jakubowski, A.3
Klopcic, B.R.4
Olynyk, J.K.5
Yeoh, G.C.6
-
28
-
-
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
-
29
-
-
79951905721
-
In silico QTL mapping of basal liver iron levels in inbred mouse strains
-
McLachlan S, Lee SM, Steele TM, Hawthorne PL, Zapala MA, Eskin E, et al. In silico QTL mapping of basal liver iron levels in inbred mouse strains. Physiol Genomics 2011; 43: 136-147.
-
(2011)
Physiol Genomics
, vol.43
, pp. 136-147
-
-
McLachlan, S.1
Lee, S.M.2
Steele, T.M.3
Hawthorne, P.L.4
Zapala, M.A.5
Eskin, E.6
-
30
-
-
0028020676
-
Pathophysiology of iron toxicity
-
Britton RS, Ramm GA, Olynyk J, Singh R, O'Neill R, Bacon BR. Pathophysiology of iron toxicity. Adv Exp Med Biol 1994; 356: 239-253.
-
(1994)
Adv Exp Med Biol
, vol.356
, pp. 239-253
-
-
Britton, R.S.1
Ramm, G.A.2
Olynyk, J.3
Singh, R.4
O'Neill, R.5
Bacon, B.R.6
-
31
-
-
0025296596
-
Liver gene expression during chronic dietary iron overload in rats
-
Pietrangelo A, Rocchi E, Schiaffonati L, Ventura E, Cairo G. Liver gene expression during chronic dietary iron overload in rats. HEPATOLOGY 1990; 11: 798-804.
-
(1990)
HEPATOLOGY
, vol.11
, pp. 798-804
-
-
Pietrangelo, A.1
Rocchi, E.2
Schiaffonati, L.3
Ventura, E.4
Cairo, G.5
-
32
-
-
77951665558
-
Mitochondrial damage, cytotoxicity, and apoptosis in iron-potentiated alcoholic liver fibrosis: amelioration by taurine
-
Lakshmi Devi S, Anuradha CV. Mitochondrial damage, cytotoxicity, and apoptosis in iron-potentiated alcoholic liver fibrosis: amelioration by taurine. Amino Acids 2010; 38: 869-879.
-
(2010)
Amino Acids
, vol.38
, pp. 869-879
-
-
Lakshmi Devi, S.1
Anuradha, C.V.2
-
33
-
-
0028957757
-
Iron overload facilitates hepatic fibrosis in the rat alcohol/low-dose carbon tetrachloride model
-
Mackinnon M, Clayton C, Plummer J, Ahern M, Cmielewski P, Ilsley A, et al. Iron overload facilitates hepatic fibrosis in the rat alcohol/low-dose carbon tetrachloride model. HEPATOLOGY 1995; 21: 1083-1088.
-
(1995)
HEPATOLOGY
, vol.21
, pp. 1083-1088
-
-
Mackinnon, M.1
Clayton, C.2
Plummer, J.3
Ahern, M.4
Cmielewski, P.5
Ilsley, A.6
-
34
-
-
0033677772
-
The importance of non-transferrin bound iron in disorders of iron metabolism
-
Breuer W, Hershko C, Cabantchik ZI. The importance of non-transferrin bound iron in disorders of iron metabolism. Transfus Sci 2000; 23: 185-192.
-
(2000)
Transfus Sci
, vol.23
, pp. 185-192
-
-
Breuer, W.1
Hershko, C.2
Cabantchik, Z.I.3
-
35
-
-
0033564146
-
HFE genotype in patients with hemochromatosis and other liver diseases
-
Bacon BR, Olynyk JK, Brunt EM, Britton RS, Wolff RK. HFE genotype in patients with hemochromatosis and other liver diseases. Ann Intern Med 1999; 130: 953-962.
-
(1999)
Ann Intern Med
, vol.130
, pp. 953-962
-
-
Bacon, B.R.1
Olynyk, J.K.2
Brunt, E.M.3
Britton, R.S.4
Wolff, R.K.5
-
36
-
-
0025737952
-
Biochemical liver profile in hemochromatosis. A survey of 100 patients
-
Lin E, Adams PC. Biochemical liver profile in hemochromatosis. A survey of 100 patients. J Clin Gastroenterol 1991; 13: 316-320.
-
(1991)
J Clin Gastroenterol
, vol.13
, pp. 316-320
-
-
Lin, E.1
Adams, P.C.2
-
37
-
-
41649115819
-
Iron-mediated inhibition of mitochondrial manganese uptake mediates mitochondrial dysfunction in a mouse model of hemochromatosis
-
Jouihan HA, Cobine PA, Cooksey RC, Hoagland EA, Boudina S, Abel ED, et al. Iron-mediated inhibition of mitochondrial manganese uptake mediates mitochondrial dysfunction in a mouse model of hemochromatosis. Mol Med 2008; 14: 98-108.
-
(2008)
Mol Med
, vol.14
, pp. 98-108
-
-
Jouihan, H.A.1
Cobine, P.A.2
Cooksey, R.C.3
Hoagland, E.A.4
Boudina, S.5
Abel, E.D.6
-
38
-
-
28444454836
-
Pathology of hepatic iron overload
-
Brunt EM. Pathology of hepatic iron overload. Semin Liver Dis 2005; 25: 392-401.
-
(2005)
Semin Liver Dis
, vol.25
, pp. 392-401
-
-
Brunt, E.M.1
-
39
-
-
0026601599
-
Liver pathology in genetic hemochromatosis: a review of 135 homozygous cases and their bioclinical correlations
-
Deugnier YM, Loreal O, Turlin B, Guyader D, Jouanolle H, Moirand R, et al. Liver pathology in genetic hemochromatosis: a review of 135 homozygous cases and their bioclinical correlations. Gastroenterology 1992; 102: 2050-2059.
-
(1992)
Gastroenterology
, vol.102
, pp. 2050-2059
-
-
Deugnier, Y.M.1
Loreal, O.2
Turlin, B.3
Guyader, D.4
Jouanolle, H.5
Moirand, R.6
-
40
-
-
84991119207
-
Kupffer cell iron overload induces intercellular adhesion molecule-1 expression on hepatocytes in genetic hemochromatosis
-
Stal P, Broome U, Scheynius A, Befrits R, Hultcrantz R. Kupffer cell iron overload induces intercellular adhesion molecule-1 expression on hepatocytes in genetic hemochromatosis. HEPATOLOGY 1995; 21: 1308-1316.
-
(1995)
HEPATOLOGY
, vol.21
, pp. 1308-1316
-
-
Stal, P.1
Broome, U.2
Scheynius, A.3
Befrits, R.4
Hultcrantz, R.5
-
41
-
-
0037384989
-
Evidence for a sub-morphological inflammatory process in the liver in haemochromatosis
-
Bridle KR, Crawford DH, Fletcher LM, Smith JL, Powell LW, Ramm GA. Evidence for a sub-morphological inflammatory process in the liver in haemochromatosis. J Hepatol 2003; 38: 426-433.
-
(2003)
J Hepatol
, vol.38
, pp. 426-433
-
-
Bridle, K.R.1
Crawford, D.H.2
Fletcher, L.M.3
Smith, J.L.4
Powell, L.W.5
Ramm, G.A.6
|