-
1
-
-
2542560427
-
Hereditary hemochromatosis - A new look at an old disease
-
Pietrangelo A. Hereditary hemochromatosis - a new look at an old disease. N Engl J Med 2004;350:2383-2397.
-
(2004)
N Engl J Med
, vol.350
, pp. 2383-2397
-
-
Pietrangelo, A.1
-
2
-
-
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
-
3
-
-
17644363328
-
Orchestration of iron homeostasis
-
Fleming RE, Bacon BR. Orchestration of iron homeostasis. N Engl J Med 2005;352:1741-1744.
-
(2005)
N Engl J Med
, vol.352
, pp. 1741-1744
-
-
Fleming, R.E.1
Bacon, B.R.2
-
4
-
-
10844258104
-
Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization
-
Nemeth E, Tuttle MS, Powelson J, Vaughn MB, Donovan A, Ward DM, et al. 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
Vaughn, M.B.4
Donovan, A.5
Ward, D.M.6
-
5
-
-
0035902586
-
Hepcidin: A putative iron-regulatory hormone relevant to hereditary hemochromatosis and the anemia of chronic disease
-
U S A
-
Fleming RE, Sly WS. Hepcidin: a putative iron-regulatory hormone relevant to hereditary hemochromatosis and the anemia of chronic disease. Proc Natl Acad Sci U S A 2001;98:8160-8162.
-
(2001)
Proc Natl Acad Sci
, vol.98
, pp. 8160-8162
-
-
Fleming, R.E.1
Sly, W.S.2
-
6
-
-
20444416123
-
The iron exporter ferroportin/Slc40a1 is essential for iron homeostasis
-
Donovan A, Lima CA, Pinkus JL, Pinkus GS, Zon LI, Robine S, et al. The iron exporter ferroportin/Slc40a1 is essential for iron homeostasis. Cell Metab 2005;1:191-200.
-
(2005)
Cell Metab
, vol.1
, pp. 191-200
-
-
Donovan, A.1
Lima, C.A.2
Pinkus, J.L.3
Pinkus, G.S.4
Zon, L.I.5
Robine, S.6
-
7
-
-
26644471267
-
Interaction of hemojuvelin with neogenin results in iron accumulation in human embryonic kidney 293 cells
-
Zhang AS, West AP Jr, Wyman AE, Bjorkman PJ, Enns CA. Interaction of hemojuvelin with neogenin results in iron accumulation in human embryonic kidney 293 cells. J Biol Chem 2005;280:33885-33894.
-
(2005)
J Biol Chem
, vol.280
, pp. 33885-33894
-
-
Zhang, A.S.1
West Jr., A.P.2
Wyman, A.E.3
Bjorkman, P.J.4
Enns, C.A.5
-
8
-
-
23644444316
-
Hemojuvelin is essential for dietary iron sensing, and its mutation leads to severe iron overload
-
Niederkofler V, Salie R, Arber S. Hemojuvelin is essential for dietary iron sensing, and its mutation leads to severe iron overload. J Clin Invest 2005;115:2180-2186.
-
(2005)
J Clin Invest
, vol.115
, pp. 2180-2186
-
-
Niederkofler, V.1
Salie, R.2
Arber, S.3
-
9
-
-
21644454100
-
Regulatory networks for the control of body iron homeostasis and their dysregulation in HFE mediated hemochromatosis
-
Ludwiczek S, Theurl I, Bahram S, Schumann K, Weiss G. Regulatory networks for the control of body iron homeostasis and their dysregulation in HFE mediated hemochromatosis. J Cell Physiol 2005;204:489-499.
-
(2005)
J Cell Physiol
, vol.204
, pp. 489-499
-
-
Ludwiczek, S.1
Theurl, I.2
Bahram, S.3
Schumann, K.4
Weiss, G.5
-
11
-
-
0023973988
-
Regulatory aspects of placental iron transfer - A comparative study
-
van Dijk JP. Regulatory aspects of placental iron transfer - a comparative study. Placenta 1988;9:215-226.
-
(1988)
Placenta
, vol.9
, pp. 215-226
-
-
Dijk, J.P.1
-
12
-
-
0033674229
-
Identification and localization of divalent metal transporter-1 (DMT-1) in term human placenta
-
Georgieff MK, Wobken JK, Welle J, Burdo JR, Connor JR. Identification and localization of divalent metal transporter-1 (DMT-1) in term human placenta. Placenta 2000;21:799-804.
-
(2000)
Placenta
, vol.21
, pp. 799-804
-
-
Georgieff, M.K.1
Wobken, J.K.2
Welle, J.3
Burdo, J.R.4
Connor, J.R.5
-
13
-
-
4644301618
-
Influence of gestational age and fetal iron status on IRP activity and iron transporter protein expression in third-trimester human placenta
-
Bradley J, Leibold EA, Harris ZL, Wobken JD, Clarke S, Zumbrennen KB, et al. Influence of gestational age and fetal iron status on IRP activity and iron transporter protein expression in third-trimester human placenta. Am J Physiol Regul Integr Comp Physiol 2004;287:R894-R901.
-
(2004)
Am J Physiol Regul Integr Comp Physiol
, vol.287
-
-
Bradley, J.1
Leibold, E.A.2
Harris, Z.L.3
Wobken, J.D.4
Clarke, S.5
Zumbrennen, K.B.6
-
14
-
-
23244449854
-
Transferrin receptor co-localizes and interacts with the hemochromatosis factor (HFE) and the divalent metal transporter-1 (DMT1) in trophoblast cells
-
Gruper Y, Bar J, Bacharach E, Ehrlich R. Transferrin receptor co-localizes and interacts with the hemochromatosis factor (HFE) and the divalent metal transporter-1 (DMT1) in trophoblast cells. J Cell Physiol 2005;204:901-912.
-
(2005)
J Cell Physiol
, vol.204
, pp. 901-912
-
-
Gruper, Y.1
Bar, J.2
Bacharach, E.3
Ehrlich, R.4
-
15
-
-
0035902605
-
Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice
-
U S A
-
Nicolas G, Bennoun M, Devaux I, Beaumont C, Grandchamp B, Kahn A, 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;98:8780-8785.
-
(2001)
Proc Natl Acad Sci
, vol.98
, pp. 8780-8785
-
-
Nicolas, G.1
Bennoun, M.2
Devaux, I.3
Beaumont, C.4
Grandchamp, B.5
Kahn, A.6
-
16
-
-
0037007064
-
Severe iron deficiency anemia in transgenic mice expressing liver hepcidin
-
U S A
-
Nicolas G, Bennoun M, Porteu A, Mativet S, Beaumont C, Grandchamp B, et al. Severe iron deficiency anemia in transgenic mice expressing liver hepcidin. Proc Natl Acad Sci U S A 2002;99:4596-4601.
-
(2002)
Proc Natl Acad Sci
, vol.99
, pp. 4596-4601
-
-
Nicolas, G.1
Bennoun, M.2
Porteu, A.3
Mativet, S.4
Beaumont, C.5
Grandchamp, B.6
-
17
-
-
9144252017
-
Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis
-
Papanikolaou G, Samuels ME, Ludwig EH, MacDonald ML, Franchini PL, Dube MP, et al. 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
MacDonald, M.L.4
Franchini, P.L.5
Dube, M.P.6
-
18
-
-
2942619988
-
Genetic abnormalities and juvenile hemochromatosis: Mutations of the HJV gene encoding hemojuvelin
-
Lee PL, Beutler E, Rao SV, Barton JC. Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin. Blood 2004;103:4669-4671.
-
(2004)
Blood
, vol.103
, pp. 4669-4671
-
-
Lee, P.L.1
Beutler, E.2
Rao, S.V.3
Barton, J.C.4
-
19
-
-
1542283709
-
Screening hepcidin for mutations in juvenile hemochromatosis: Identification of a new mutation (C70R)
-
Roetto A, Daraio F, Porporato P, Caruso R, Cox TM, Cazzola M, et al. Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R). Blood 2004;103:2407-2409.
-
(2004)
Blood
, vol.103
, pp. 2407-2409
-
-
Roetto, A.1
Daraio, F.2
Porporato, P.3
Caruso, R.4
Cox, T.M.5
Cazzola, M.6
-
21
-
-
26244464038
-
Neonatal hemochromatosis: Fetal liver disease leading to liver failure in the fetus and newborn
-
Whitington PF, Kelly S, Ekong UD. Neonatal hemochromatosis: fetal liver disease leading to liver failure in the fetus and newborn. Pediatr Transplant 2005;9:640-645.
-
(2005)
Pediatr Transplant
, vol.9
, pp. 640-645
-
-
Whitington, P.F.1
Kelly, S.2
Ekong, U.D.3
-
22
-
-
7644235252
-
High-dose immunoglobulin during pregnancy for recurrent neonatal haemochromatosis
-
Whitington PF, Hibbard JU. High-dose immunoglobulin during pregnancy for recurrent neonatal haemochromatosis. Lancet 2004;364:1690-1698.
-
(2004)
Lancet
, vol.364
, pp. 1690-1698
-
-
Whitington, P.F.1
Hibbard, J.U.2
-
23
-
-
0037373702
-
Progress in treatment and outcome for children with neonatal haemochromatosis
-
Flynn DM, Mohan N, McKiernan P, Beath S, Buckels J, Mayer D, et al. Progress in treatment and outcome for children with neonatal haemochromatosis. Arch Dis Child Fetal Neonatal Ed 2003;88:F124-F127.
-
(2003)
Arch Dis Child Fetal Neonatal Ed
, vol.88
-
-
Flynn, D.M.1
Mohan, N.2
McKiernan, P.3
Beath, S.4
Buckels, J.5
Mayer, D.6
-
24
-
-
0031963535
-
Neonatal hemochromatosis: Outcomes of pharmacologic and surgical therapies
-
Sigurdsson L, Reyes J, Kocoshis SA, Hansen TW, Rosh J, Knisely AS. Neonatal hemochromatosis: outcomes of pharmacologic and surgical therapies. J Pediatr Gastroenterol Nutr 1998;26:85-89.
-
(1998)
J Pediatr Gastroenterol Nutr
, vol.26
, pp. 85-89
-
-
Sigurdsson, L.1
Reyes, J.2
Kocoshis, S.A.3
Hansen, T.W.4
Rosh, J.5
Knisely, A.S.6
-
25
-
-
33644668974
-
Disparate clinical presentation of neonatal hemochromatosis in twins
-
Ekong UD, Kelly S, Whitington PF. Disparate clinical presentation of neonatal hemochromatosis in twins. Pediatrics 2005;116:e880-e884.
-
(2005)
Pediatrics
, vol.116
-
-
Ekong, U.D.1
Kelly, S.2
Whitington, P.F.3
-
26
-
-
0035668367
-
Acute liver failure in infancy: A 14-year experience of a pediatric liver transplantation center
-
Durand P, Debray D, Mandel R, Baujard C, Branchereau S, Gauthier F, et al. Acute liver failure in infancy: a 14-year experience of a pediatric liver transplantation center. J Pediatr 2001;139:871-876.
-
(2001)
J Pediatr
, vol.139
, pp. 871-876
-
-
Durand, P.1
Debray, D.2
Mandel, R.3
Baujard, C.4
Branchereau, S.5
Gauthier, F.6
-
28
-
-
0023261222
-
Perinatal hemochromatosis. Clinical, morphologic, and quantitative iron studies
-
Silver MM, Beverley DW, Valberg LS, Cutz E, Phillips MJ, Shaheed WA. Perinatal hemochromatosis. Clinical, morphologic, and quantitative iron studies. Am J Pathol 1987;128:538-554.
-
(1987)
Am J Pathol
, vol.128
, pp. 538-554
-
-
Silver, M.M.1
Beverley, D.W.2
Valberg, L.S.3
Cutz, E.4
Phillips, M.J.5
Shaheed, W.A.6
-
29
-
-
0028351940
-
Renal proximal tubular dysgenesis associated with severe neonatal hemosiderotic liver disease
-
Bale PM, Kan AE, Dorney SF. Renal proximal tubular dysgenesis associated with severe neonatal hemosiderotic liver disease. Pediatr Pathol 1994;14:479-489.
-
(1994)
Pediatr Pathol
, vol.14
, pp. 479-489
-
-
Bale, P.M.1
Kan, A.E.2
Dorney, S.F.3
-
30
-
-
0033912761
-
Neonatal hemochromatosis: The importance of early recognition of liver failure
-
Vohra P, Haller C, Emre S, Magid M, Holzman I, Ye MQ, et al. Neonatal hemochromatosis: the importance of early recognition of liver failure. J Pediatr 2000;136:537-541.
-
(2000)
J Pediatr
, vol.136
, pp. 537-541
-
-
Vohra, P.1
Haller, C.2
Emre, S.3
Magid, M.4
Holzman, I.5
Ye, M.Q.6
-
31
-
-
0023701670
-
Oropharyngeal and upper respiratory tract mucosal-gland siderosis in neonatal hemochromatosis: An approach to biopsy diagnosis
-
Knisely AS, O'Shea PA, Stocks JF, Dimmick JE. Oropharyngeal and upper respiratory tract mucosal-gland siderosis in neonatal hemochromatosis: an approach to biopsy diagnosis. J Pediatr 1988;113:871-874.
-
(1988)
J Pediatr
, vol.113
, pp. 871-874
-
-
Knisely, A.S.1
O'Shea, P.A.2
Stocks, J.F.3
Dimmick, J.E.4
-
32
-
-
0025241018
-
Fetal liver disease may precede extrahepatic siderosis in neonatal hemochromatosis
-
Hoogstraten J, de Sa DJ, Knisely AS. Fetal liver disease may precede extrahepatic siderosis in neonatal hemochromatosis. Gastroenterology 1990;98:1699-1701.
-
(1990)
Gastroenterology
, vol.98
, pp. 1699-1701
-
-
Hoogstraten, J.1
De Sa, D.J.2
Knisely, A.S.3
-
33
-
-
0026803430
-
Cytomegalovirus infection, fetal liver disease, and neonatal hemochromatosis
-
Kershisnik MM, Knisely AS, Sun CC, Andrews JM, Wittwer CT. Cytomegalovirus infection, fetal liver disease, and neonatal hemochromatosis. Hum Pathol 1992;23:1075-1080.
-
(1992)
Hum Pathol
, vol.23
, pp. 1075-1080
-
-
Kershisnik, M.M.1
Knisely, A.S.2
Sun, C.C.3
Andrews, J.M.4
Wittwer, C.T.5
-
34
-
-
0024559526
-
Perinatal hemochromatosis: Entity or end result?
-
Witzleben CL, Uri A. Perinatal hemochromatosis: entity or end result? Hum Pathol 1989;20:335-340.
-
(1989)
Hum Pathol
, vol.20
, pp. 335-340
-
-
Witzleben, C.L.1
Uri, A.2
-
35
-
-
0034845503
-
Classification and genetic features of neonatal haemochromatosis: A study of 27 affected pedigrees and molecular analysis of genes implicated in iron metabolism
-
Kelly AL, Lunt PW, Rodrigues F, Berry PJ, Flynn DM, McKiernan PJ, et al. Classification and genetic features of neonatal haemochromatosis: a study of 27 affected pedigrees and molecular analysis of genes implicated in iron metabolism. J Med Genet 2001;38:599-610.
-
(2001)
J Med Genet
, vol.38
, pp. 599-610
-
-
Kelly, A.L.1
Lunt, P.W.2
Rodrigues, F.3
Berry, P.J.4
Flynn, D.M.5
McKiernan, P.J.6
-
36
-
-
0042852936
-
Hemochromatosis - Neonatal and young subjects
-
Cox TM, Halsall DJ. Hemochromatosis - neonatal and young subjects. Blood Cells Mol Dis 2002;29:411-417.
-
(2002)
Blood Cells Mol Dis
, vol.29
, pp. 411-417
-
-
Cox, T.M.1
Halsall, D.J.2
-
37
-
-
19044383771
-
Genetic counseling in neonatal hemochromatosis
-
Shneider BL. Genetic counseling in neonatal hemochromatosis. J Pediatr Gastroenterol Nutr 2002;34:328.
-
(2002)
J Pediatr Gastroenterol Nutr
, vol.34
, pp. 328
-
-
Shneider, B.L.1
-
39
-
-
0028177674
-
Delta 4-3-oxosteroid 5 beta-reductase deficiency causing neonatal liver failure and hemochromatosis
-
Shneider BL, Setchell KD, Whitington PF, Neilson KA, Suchy FJ. Delta 4-3-oxosteroid 5 beta-reductase deficiency causing neonatal liver failure and hemochromatosis. J Pediatr 1994;124:234-238.
-
(1994)
J Pediatr
, vol.124
, pp. 234-238
-
-
Shneider, B.L.1
Setchell, K.D.2
Whitington, P.F.3
Neilson, K.A.4
Suchy, F.J.5
-
40
-
-
19044365959
-
GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L
-
Visapaa I, Fellman V, Vesa J, Dasvarma A, Hutton JL, Kumar V, et al. GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. Am J Hum Genet 2002;71:863-876.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 863-876
-
-
Visapaa, I.1
Fellman, V.2
Vesa, J.3
Dasvarma, A.4
Hutton, J.L.5
Kumar, V.6
|