-
1
-
-
78049294738
-
A novel TMPRSS6 mutation that prevents protease auto-activation causes IRIDA
-
Altamura S, D'Alessio F, Selle B, Muckenthaler MU. 2010. A novel TMPRSS6 mutation that prevents protease auto-activation causes IRIDA. Biochem J 431:363-371.
-
(2010)
Biochem J
, vol.431
, pp. 363-371
-
-
Altamura, S.1
D'Alessio, F.2
Selle, B.3
Muckenthaler, M.U.4
-
2
-
-
84870777376
-
How I manage patients with atypical microcytic anaemia
-
Camaschella C. 2013. How I manage patients with atypical microcytic anaemia. Br J Haematol 160:12-24.
-
(2013)
Br J Haematol
, vol.160
, pp. 12-24
-
-
Camaschella, C.1
-
3
-
-
44449177930
-
The serine protease TMPRSS6 is required to sense iron deficiency
-
Du X, She E, Gelbart T, Truksa J, Lee P, Xia Y, Khovananth K, Mudd S, Mann N, Moresco EM, Beutler E, Beutler B. 2008. The serine protease TMPRSS6 is required to sense iron deficiency. Science 320:1088-1092.
-
(2008)
Science
, vol.320
, pp. 1088-1092
-
-
Du, X.1
She, E.2
Gelbart, T.3
Truksa, J.4
Lee, P.5
Xia, Y.6
Khovananth, K.7
Mudd, S.8
Mann, N.9
Moresco, E.M.10
Beutler, E.11
Beutler, B.12
-
4
-
-
77951822044
-
Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA)
-
De Falco L, Totaro F, Nai A, Pagani A, Girelli D, Silvestri L, Piscopo C, Campostrini N, Dufour C, Al Manjomi F, Minkov M, Van Vuurden DG, Feliu A, Kattamis A, Camaschella C, Iolascon A. 2010. Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA). Hum Mutat 31(5):E1390-E1405.
-
(2010)
Hum Mutat
, vol.31
, Issue.5
-
-
De Falco, L.1
Totaro, F.2
Nai, A.3
Pagani, A.4
Girelli, D.5
Silvestri, L.6
Piscopo, C.7
Campostrini, N.8
Dufour, C.9
Al Manjomi, F.10
Minkov, M.11
Van Vuurden, D.G.12
Feliu, A.13
Kattamis, A.14
Camaschella, C.15
Iolascon, A.16
-
5
-
-
42649118442
-
Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA)
-
Finberg KE, Heeney MM, Campagna DR, Aydinok Y, Pearson HA, Hartman KR, Mayo MM, Samuel SM, Strouse JJ, Markianos K, Andrews NC, Fleming MD. 2008. Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). Nat Genet 40:569-571.
-
(2008)
Nat Genet
, vol.40
, pp. 569-571
-
-
Finberg, K.E.1
Heeney, M.M.2
Campagna, D.R.3
Aydinok, Y.4
Pearson, H.A.5
Hartman, K.R.6
Mayo, M.M.7
Samuel, S.M.8
Strouse, J.J.9
Markianos, K.10
Andrews, N.C.11
Fleming, M.D.12
-
6
-
-
84865163240
-
Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity
-
Guillem F, Kannengiesser C, Oudin C, Lenoir A, Matak P, Donadieu J, Isidor B, Méchinaud F, Aguilar-Martinez P, Beaumont C, Vaulont S, Grandchamp B, Nicolas G. 2012. Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity. Hum Mutat 33:1388-1396.
-
(2012)
Hum Mutat
, vol.33
, pp. 1388-1396
-
-
Guillem, F.1
Kannengiesser, C.2
Oudin, C.3
Lenoir, A.4
Matak, P.5
Donadieu, J.6
Isidor, B.7
Méchinaud, F.8
Aguilar-Martinez, P.9
Beaumont, C.10
Vaulont, S.11
Grandchamp, B.12
Nicolas, G.13
-
7
-
-
80054840413
-
TMPRSS6 rs855791 modulates hepcidin transcription in vitro and serum hepcidin levels in normal individuals
-
Nai A, Pagani A, Silvestri L, Campostrini N, Corbella M, Girelli D, Traglia M, Toniolo D, Camaschella C. 2011. TMPRSS6 rs855791 modulates hepcidin transcription in vitro and serum hepcidin levels in normal individuals. Blood 118:4459-4462.
-
(2011)
Blood
, vol.118
, pp. 4459-4462
-
-
Nai, A.1
Pagani, A.2
Silvestri, L.3
Campostrini, N.4
Corbella, M.5
Girelli, D.6
Traglia, M.7
Toniolo, D.8
Camaschella, C.9
-
8
-
-
54349097980
-
Hemojuvelin N-terminal mutants reach the plasma membrane but do not activate the hepcidin response
-
Pagani A, Silvestri L, Nai A, Camaschella C. 2008. Hemojuvelin N-terminal mutants reach the plasma membrane but do not activate the hepcidin response. Haematologica 93:1466-1472.
-
(2008)
Haematologica
, vol.93
, pp. 1466-1472
-
-
Pagani, A.1
Silvestri, L.2
Nai, A.3
Camaschella, C.4
-
9
-
-
70350757743
-
Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms
-
Ramsay AJ, Quesada V, Sanchez M, Garabaya C, Sardà MP, Baiget M, Remacha A, Velasco G, López-Otín C. 2009. Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms. Hum Mol Genet 18:3673-3683.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 3673-3683
-
-
Ramsay, A.J.1
Quesada, V.2
Sanchez, M.3
Garabaya, C.4
Sardà, M.P.5
Baiget, M.6
Remacha, A.7
Velasco, G.8
López-Otín, C.9
-
10
-
-
34248371666
-
Defective targeting of hemojuvelin to plasma membrane is a common pathogenetic mechanism in juvenile hemochromatosis
-
Silvestri L, Pagani A, Fazi C, Gerardi G, Levi S, Arosio P, Camaschella C. 2007. Defective targeting of hemojuvelin to plasma membrane is a common pathogenetic mechanism in juvenile hemochromatosis. Blood 109:4503-4510.
-
(2007)
Blood
, vol.109
, pp. 4503-4510
-
-
Silvestri, L.1
Pagani, A.2
Fazi, C.3
Gerardi, G.4
Levi, S.5
Arosio, P.6
Camaschella, C.7
-
11
-
-
56449096622
-
The serine protease matriptase-2 (TMPRSS6) inhibits hepcidin activation by cleaving membrane hemojuvelin
-
Silvestri L, Pagani A, Nai A, De Domenico I, Kaplan J, Camaschella C. 2008. The serine protease matriptase-2 (TMPRSS6) inhibits hepcidin activation by cleaving membrane hemojuvelin. Cell Metab 8:502-511.
-
(2008)
Cell Metab
, vol.8
, pp. 502-511
-
-
Silvestri, L.1
Pagani, A.2
Nai, A.3
De Domenico, I.4
Kaplan, J.5
Camaschella, C.6
-
12
-
-
67049134745
-
Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia
-
Silvestri L, Guillem F, Pagani A, Nai A, Oudin C, Silva M, Toutain F, Kannengiesser C, Beaumont C, Camaschella C, Grandchamp B. 2009. Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia. Blood 113:5605-5608.
-
(2009)
Blood
, vol.113
, pp. 5605-5608
-
-
Silvestri, L.1
Guillem, F.2
Pagani, A.3
Nai, A.4
Oudin, C.5
Silva, M.6
Toutain, F.7
Kannengiesser, C.8
Beaumont, C.9
Camaschella, C.10
Grandchamp, B.11
-
13
-
-
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, Viganò F, Buetti I, Pistis G, Cocca M, Camaschella C, Toniolo D. 2011. Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations. J Med Genet 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
Viganò, F.8
Buetti, I.9
Pistis, G.10
Cocca, M.11
Camaschella, C.12
Toniolo, D.13
|