-
2
-
-
77957340866
-
Ferroportin disease: a systematic meta-analysis of clinical and molecular findings
-
Mayr R., Janecke A.R., Schranz M., Griffiths W.J., Vogel W., Pietrangelo A., Zoller H. Ferroportin disease: a systematic meta-analysis of clinical and molecular findings. J. Hepatol. 2010, 53:941-949.
-
(2010)
J. Hepatol.
, vol.53
, pp. 941-949
-
-
Mayr, R.1
Janecke, A.R.2
Schranz, M.3
Griffiths, W.J.4
Vogel, W.5
Pietrangelo, A.6
Zoller, H.7
-
3
-
-
0033517341
-
Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene
-
Pietrangelo A., Montosi G., Totaro A., Garuti C., Conte D., Cassanelli S., Fraquelli M., Sardini C., Vasta F., Gasparini P. 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
Garuti, C.4
Conte, D.5
Cassanelli, S.6
Fraquelli, M.7
Sardini, C.8
Vasta, F.9
Gasparini, P.10
-
4
-
-
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., Trenor C.C., Gasparini P., Andrews N.C., Pietrangelo A. 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
Trenor, C.C.7
Gasparini, P.8
Andrews, N.C.9
Pietrangelo, A.10
-
5
-
-
79958155355
-
Identification of mutations in SLC40A1 that affect ferroportin function and phenotype of human ferroportin iron overload
-
(2063 e2051)
-
Mayr R., Griffiths W.J., Hermann M., McFarlane I., Halsall D.J., Finkenstedt A., Douds A., Davies S.E., Janecke A.R., Vogel W., Cox T.M., Zoller H. Identification of mutations in SLC40A1 that affect ferroportin function and phenotype of human ferroportin iron overload. Gastroenterology 2011, 140:2056-2063. (2063 e2051).
-
(2011)
Gastroenterology
, vol.140
, pp. 2056-2063
-
-
Mayr, R.1
Griffiths, W.J.2
Hermann, M.3
McFarlane, I.4
Halsall, D.J.5
Finkenstedt, A.6
Douds, A.7
Davies, S.E.8
Janecke, A.R.9
Vogel, W.10
Cox, T.M.11
Zoller, H.12
-
6
-
-
79953179698
-
Sex and acquired cofactors determine phenotypes of ferroportin disease
-
(e1191-1192)
-
Le Lan C., Mosser A., Ropert M., Detivaud L., Loustaud-Ratti V., Vital-Durand D., Roget L., Bardou-Jacquet E., Turlin B., David V., Loreal O., Deugnier Y., Brissot P., Jouanolle A.M. Sex and acquired cofactors determine phenotypes of ferroportin disease. Gastroenterology 2011, 140:1199-1207. (e1191-1192).
-
(2011)
Gastroenterology
, vol.140
, pp. 1199-1207
-
-
Le Lan, C.1
Mosser, A.2
Ropert, M.3
Detivaud, L.4
Loustaud-Ratti, V.5
Vital-Durand, D.6
Roget, L.7
Bardou-Jacquet, E.8
Turlin, B.9
David, V.10
Loreal, O.11
Deugnier, Y.12
Brissot, P.13
Jouanolle, A.M.14
-
7
-
-
79951592994
-
Two novel mutations in the SLC40A1 and HFE genes implicated in iron overload in a Spanish man
-
Del-Castillo-Rueda A., Moreno-Carralero M.I., Alvarez-Sala-Walther L.A., Cuadrado-Grande N., Enriquez-de-Salamanca R., Mendez M., Moran-Jimenez M.J. Two novel mutations in the SLC40A1 and HFE genes implicated in iron overload in a Spanish man. Eur. J. Haematol. 2011, 86:260-264.
-
(2011)
Eur. J. Haematol.
, vol.86
, pp. 260-264
-
-
Del-Castillo-Rueda, A.1
Moreno-Carralero, M.I.2
Alvarez-Sala-Walther, L.A.3
Cuadrado-Grande, N.4
Enriquez-de-Salamanca, R.5
Mendez, M.6
Moran-Jimenez, M.J.7
-
8
-
-
77952692111
-
A novel missense mutation c.470 A>C (p.D157A) in the SLC40A1 gene as a cause of ferroportin disease in a family with hyperferritinaemia
-
Saja K., Bignell P., Robson K., Provan D. A novel missense mutation c.470 A>C (p.D157A) in the SLC40A1 gene as a cause of ferroportin disease in a family with hyperferritinaemia. Br. J. Haematol. 2010, 149:914-916.
-
(2010)
Br. J. Haematol.
, vol.149
, pp. 914-916
-
-
Saja, K.1
Bignell, P.2
Robson, K.3
Provan, D.4
-
9
-
-
84903454743
-
Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients
-
(in press)
-
Callebaut I., Joubrel R., Pissard S., Kannengiesser C., Gerolami V., Ged C., Cadet E., Cartault F., Ka C., Gourlaouen I., Gourhant L., Oudin C., Goossens M., Grandchamp B., De Verneuil H., Rochette J., Ferec C., Le Gac G. Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients. Hum. Mol. Genet. 2014, (in press).
-
(2014)
Hum. Mol. Genet.
-
-
Callebaut, I.1
Joubrel, R.2
Pissard, S.3
Kannengiesser, C.4
Gerolami, V.5
Ged, C.6
Cadet, E.7
Cartault, F.8
Ka, C.9
Gourlaouen, I.10
Gourhant, L.11
Oudin, C.12
Goossens, M.13
Grandchamp, B.14
De Verneuil, H.15
Rochette, J.16
Ferec, C.17
Le Gac, G.18
-
10
-
-
84902834920
-
A novel mutation in the SLC40A1 gene associated with reduced iron export in vitro
-
(in press)
-
Moreno-Carralero M.I., Munoz-Munoz J.A., Cuadrado-Grande N., Lopez-Rodriguez R., Jose Hernandez-Alfaro M., Del-Castillo-Rueda A., Enriquez-de-Salamanca R., Mendez M., Moran-Jimenez M.J. A novel mutation in the SLC40A1 gene associated with reduced iron export in vitro. Am. J. Hematol. 2014, (in press). 10.1002/ajh.23714.
-
(2014)
Am. J. Hematol.
-
-
Moreno-Carralero, M.I.1
Munoz-Munoz, J.A.2
Cuadrado-Grande, N.3
Lopez-Rodriguez, R.4
Jose Hernandez-Alfaro, M.5
Del-Castillo-Rueda, A.6
Enriquez-de-Salamanca, R.7
Mendez, M.8
Moran-Jimenez, M.J.9
-
12
-
-
20844462571
-
In vitro functional analysis of human ferroportin (FPN) and hemochromatosis-associated FPN mutations
-
Schimanski L.M., Drakesmith H., Merryweather-Clarke A.T., Viprakasit V., Edwards J.P., Sweetland E., Bastin J.M., Cowley D., Chinthammitr Y., Robson K.J., Townsend A.R. 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
Viprakasit, V.4
Edwards, J.P.5
Sweetland, E.6
Bastin, J.M.7
Cowley, D.8
Chinthammitr, Y.9
Robson, K.J.10
Townsend, A.R.11
-
13
-
-
23044508432
-
Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin
-
Drakesmith H., Schimanski L.M., Ormerod E., Merryweather-Clarke A.T., Viprakasit V., Edwards J.P., Sweetland E., Bastin J.M., Cowley D., Chinthammitr Y., Robson K.J., Townsend A.R. 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
Merryweather-Clarke, A.T.4
Viprakasit, V.5
Edwards, J.P.6
Sweetland, E.7
Bastin, J.M.8
Cowley, D.9
Chinthammitr, Y.10
Robson, K.J.11
Townsend, A.R.12
-
14
-
-
59649083156
-
Investigation of the biophysical and cell biological properties of ferroportin, a multipass integral membrane protein iron exporter
-
Rice A.E., Mendez M.J., Hokanson C.A., Rees D.C., Bjorkman P.J. Investigation of the biophysical and cell biological properties of ferroportin, a multipass integral membrane protein iron exporter. J. Mol. Biol. 2009, 386:717-732.
-
(2009)
J. Mol. Biol.
, vol.386
, pp. 717-732
-
-
Rice, A.E.1
Mendez, M.J.2
Hokanson, C.A.3
Rees, D.C.4
Bjorkman, P.J.5
-
15
-
-
73549097259
-
Functional analysis and theoretical modeling of ferroportin reveals clustering of mutations according to phenotype
-
Wallace D.F., Harris J.M., Subramaniam V.N. Functional analysis and theoretical modeling of ferroportin reveals clustering of mutations according to phenotype. Am. J. Physiol. Cell Physiol. 2010, 298:C75-C84.
-
(2010)
Am. J. Physiol. Cell Physiol.
, vol.298
-
-
Wallace, D.F.1
Harris, J.M.2
Subramaniam, V.N.3
-
16
-
-
0038662619
-
Hepcidin, a putative mediator of anemia of inflammation, is a type II acute-phase protein
-
Nemeth E., Valore E.V., Territo M., Schiller G., Lichtenstein A., Ganz T. Hepcidin, a putative mediator of anemia of inflammation, is a type II acute-phase protein. Blood 2003, 101:2461-2463.
-
(2003)
Blood
, vol.101
, pp. 2461-2463
-
-
Nemeth, E.1
Valore, E.V.2
Territo, M.3
Schiller, G.4
Lichtenstein, A.5
Ganz, T.6
-
17
-
-
13844307889
-
Regulation of hepcidin transcription by interleukin-1 and interleukin-6
-
Lee P., Peng H., Gelbart T., Wang L., Beutler E. Regulation of hepcidin transcription by interleukin-1 and interleukin-6. Proc. Natl. Acad. Sci. U. S. A. 2005, 102:1906-1910.
-
(2005)
Proc. Natl. Acad. Sci. U. S. A.
, vol.102
, pp. 1906-1910
-
-
Lee, P.1
Peng, H.2
Gelbart, T.3
Wang, L.4
Beutler, E.5
-
18
-
-
10844258104
-
Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization
-
Nemeth E., Tuttle M.S., Powelson J., Vaughn M.B., Donovan A., Ward D.M., Ganz T., Kaplan J. 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
Ganz, T.7
Kaplan, J.8
-
19
-
-
67651087324
-
The molecular basis of hepcidin-resistant hereditary hemochromatosis
-
Fernandes A., Preza G.C., Phung Y., De Domenico I., Kaplan J., Ganz T., Nemeth E. 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
De Domenico, I.4
Kaplan, J.5
Ganz, T.6
Nemeth, E.7
-
20
-
-
77950602774
-
Clinical presentation and molecular pathophysiology of autosomal dominant hemochromatosis caused by a novel ferroportin mutation
-
Griffiths W.J., Mayr R., McFarlane I., Hermann M., Halsall D.J., Zoller H., Cox T.M. Clinical presentation and molecular pathophysiology of autosomal dominant hemochromatosis caused by a novel ferroportin mutation. Hepatology 2010, 51:788-795.
-
(2010)
Hepatology
, vol.51
, pp. 788-795
-
-
Griffiths, W.J.1
Mayr, R.2
McFarlane, I.3
Hermann, M.4
Halsall, D.J.5
Zoller, H.6
Cox, T.M.7
-
21
-
-
84882851401
-
Disorders of iron overload
-
Churchill Livingstone Elsevier, Edinburgh, London, New York, Oxford, Philadelphia, St Louis, Sydney, Toronto, A.D. Burt, B.C. Portmann, L.D. Ferrell (Eds.)
-
Paterson A.C., Pietrangelo A. Disorders of iron overload. MacSween's Pathology of the Liver 2012, 261-292. Churchill Livingstone Elsevier, Edinburgh, London, New York, Oxford, Philadelphia, St Louis, Sydney, Toronto. A.D. Burt, B.C. Portmann, L.D. Ferrell (Eds.).
-
(2012)
MacSween's Pathology of the Liver
, pp. 261-292
-
-
Paterson, A.C.1
Pietrangelo, A.2
-
22
-
-
33644798951
-
Genetic and clinical heterogeneity of ferroportin disease
-
Cremonesi L., Forni G.L., Soriani N., Lamagna M., Fermo I., Daraio F., Galli A., Pietra D., Malcovati L., Ferrari M., Camaschella C., Cazzola M. 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
Lamagna, M.4
Fermo, I.5
Daraio, F.6
Galli, A.7
Pietra, D.8
Malcovati, L.9
Ferrari, M.10
Camaschella, C.11
Cazzola, M.12
-
23
-
-
84862002810
-
Hepcidin-induced endocytosis of ferroportin is dependent on ferroportin ubiquitination
-
Qiao B., Sugianto P., Fung E., Del-Castillo-Rueda A., Moran-Jimenez M.J., Ganz T., Nemeth E. Hepcidin-induced endocytosis of ferroportin is dependent on ferroportin ubiquitination. Cell Metab. 2012, 15:918-924.
-
(2012)
Cell Metab.
, vol.15
, pp. 918-924
-
-
Qiao, B.1
Sugianto, P.2
Fung, E.3
Del-Castillo-Rueda, A.4
Moran-Jimenez, M.J.5
Ganz, T.6
Nemeth, E.7
-
24
-
-
84862007363
-
Molecular mechanism of hepcidin-mediated ferroportin internalization requires ferroportin lysines, not tyrosines or JAK-STAT
-
Ross S.L., Tran L., Winters A., Lee K.J., Plewa C., Foltz I., King C., Miranda L.P., Allen J., Beckman H., Cooke K.S., Moody G., Sasu B.J., Nemeth E., Ganz T., Molineux G., Arvedson T.L. Molecular mechanism of hepcidin-mediated ferroportin internalization requires ferroportin lysines, not tyrosines or JAK-STAT. Cell Metab. 2012, 15:905-917.
-
(2012)
Cell Metab.
, vol.15
, pp. 905-917
-
-
Ross, S.L.1
Tran, L.2
Winters, A.3
Lee, K.J.4
Plewa, C.5
Foltz, I.6
King, C.7
Miranda, L.P.8
Allen, J.9
Beckman, H.10
Cooke, K.S.11
Moody, G.12
Sasu, B.J.13
Nemeth, E.14
Ganz, T.15
Molineux, G.16
Arvedson, T.L.17
-
25
-
-
79959517566
-
Serum hepcidin: reference ranges and biochemical correlates in the general population
-
Galesloot T.E., Vermeulen S.H., Geurts-Moespot A.J., Klaver S.M., Kroot J.J., van Tienoven D., Wetzels J.F., Kiemeney L.A., Sweep F.C., den Heijer M., Swinkels D.W. Serum hepcidin: reference ranges and biochemical correlates in the general population. Blood 2011, 117:e218-e225.
-
(2011)
Blood
, vol.117
-
-
Galesloot, T.E.1
Vermeulen, S.H.2
Geurts-Moespot, A.J.3
Klaver, S.M.4
Kroot, J.J.5
van Tienoven, D.6
Wetzels, J.F.7
Kiemeney, L.A.8
Sweep, F.C.9
den Heijer, M.10
Swinkels, D.W.11
-
26
-
-
80052587883
-
Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations
-
Traglia M., Girelli D., Biino G., Campostrini N., Corbella M., Sala C., Masciullo C., Vigano F., Buetti I., Pistis G., Cocca M., Camaschella C., Toniolo D. Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations. J. Med. Genet. 2011, 48:629-634.
-
(2011)
J. Med. Genet.
, vol.48
, pp. 629-634
-
-
Traglia, M.1
Girelli, D.2
Biino, G.3
Campostrini, N.4
Corbella, M.5
Sala, C.6
Masciullo, C.7
Vigano, F.8
Buetti, I.9
Pistis, G.10
Cocca, M.11
Camaschella, C.12
Toniolo, D.13
-
27
-
-
77956651790
-
Biological effects of mutant ceruloplasmin on hepcidin-mediated internalization of ferroportin
-
Kono S., Yoshida K., Tomosugi N., Terada T., Hamaya Y., Kanaoka S., Miyajima H. Biological effects of mutant ceruloplasmin on hepcidin-mediated internalization of ferroportin. Biochim. Biophys. Acta 2010, 1802:968-975.
-
(2010)
Biochim. Biophys. Acta
, vol.1802
, pp. 968-975
-
-
Kono, S.1
Yoshida, K.2
Tomosugi, N.3
Terada, T.4
Hamaya, Y.5
Kanaoka, S.6
Miyajima, H.7
-
28
-
-
1842505508
-
Is hepcidin an iron cluster peptide?
-
Marrif H. Is hepcidin an iron cluster peptide?. Med. Hypotheses 2004, 62:554-555.
-
(2004)
Med. Hypotheses
, vol.62
, pp. 554-555
-
-
Marrif, H.1
-
29
-
-
24644441115
-
Recombinant human hepcidin expressed in Escherichia coli isolates as an iron containing protein
-
Gerardi G., Biasiotto G., Santambrogio P., Zanella I., Ingrassia R., Corrado M., Cavadini P., Derosas M., Levi S., Arosio P. Recombinant human hepcidin expressed in Escherichia coli isolates as an iron containing protein. Blood Cells Mol. Dis. 2005, 35:177-181.
-
(2005)
Blood Cells Mol. Dis.
, vol.35
, pp. 177-181
-
-
Gerardi, G.1
Biasiotto, G.2
Santambrogio, P.3
Zanella, I.4
Ingrassia, R.5
Corrado, M.6
Cavadini, P.7
Derosas, M.8
Levi, S.9
Arosio, P.10
-
30
-
-
33747872194
-
Modelling of a metal-containing hepcidin
-
Farnaud S., Patel A., Evans R.W. Modelling of a metal-containing hepcidin. Biometals 2006, 19:527-533.
-
(2006)
Biometals
, vol.19
, pp. 527-533
-
-
Farnaud, S.1
Patel, A.2
Evans, R.W.3
-
31
-
-
21544442328
-
Functional consequences of ferroportin 1 mutations
-
Liu X.B., Yang F., Haile D.J. 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
-
32
-
-
79959974472
-
Interactions between ferroportin and hephaestin in rat enterocytes are reduced after iron ingestion
-
(299 e291)
-
Yeh K.Y., Yeh M., Glass J. Interactions between ferroportin and hephaestin in rat enterocytes are reduced after iron ingestion. Gastroenterology 2011, 141:292-299. (299 e291).
-
(2011)
Gastroenterology
, vol.141
, pp. 292-299
-
-
Yeh, K.Y.1
Yeh, M.2
Glass, J.3
|