메뉴 건너뛰기




Volumn 140, Issue 7, 2011, Pages 2056-2063.e1

Identification of mutations in SLC40A1 that affect ferroportin function and phenotype of human ferroportin iron overload

Author keywords

Bioinformatics; Hyperferritinemia; Non HFE Hemochromatosis; SLC11A3

Indexed keywords

AMINO ACID; FERROPORTIN; HEPCIDIN; TRANSFERRIN;

EID: 79958155355     PISSN: 00165085     EISSN: 15280012     Source Type: Journal    
DOI: 10.1053/j.gastro.2011.02.064     Document Type: Article
Times cited : (54)

References (27)
  • 2
    • 26244467650 scopus 로고    scopus 로고
    • Hemochromatosis: Genetic testing and clinical practice
    • DOI 10.1016/S1542-3565(05)00607-5, PII S1542356505006075
    • H. Zoller, and T.M. Cox Hemochromatosis: genetic testing and clinical practice Clin Gastroenterol Hepatol 3 2005 945 958 (Pubitemid 41415740)
    • (2005) Clinical Gastroenterology and Hepatology , vol.3 , Issue.10 , pp. 945-958
    • Zoller, H.1    Cox, T.M.2
  • 5
    • 21544442328 scopus 로고    scopus 로고
    • Functional consequences of ferroportin 1 mutations
    • DOI 10.1016/j.bcmd.2005.04.005, PII S1079979605000574, Including Workshop on Exosomes: Part II
    • X.B. Liu, F. Yang, and D.J. Haile Functional consequences of ferroportin 1 mutations Blood Cells Mol Dis 35 2005 33 46 (Pubitemid 40922773)
    • (2005) Blood Cells, Molecules, and Diseases , vol.35 , Issue.1 , pp. 33-46
    • Liu, X.-B.1    Yang, F.2    Haile, D.J.3
  • 7
    • 13844270538 scopus 로고    scopus 로고
    • Autosomal dominant hereditary hemochromatosis associated with a novel ferroportin mutation and unique clinical features
    • DOI 10.1016/j.bcmd.2004.12.002
    • R.L. Sham, P.D. Phatak, and C. West Autosomal dominant hereditary hemochromatosis associated with a novel ferroportin mutation and unique clinical features Blood Cells Mol Dis 34 2005 157 161 (Pubitemid 40250491)
    • (2005) Blood Cells, Molecules, and Diseases , vol.34 , Issue.2 , pp. 157-161
    • Sham, R.L.1    Phatak, P.D.2    West, C.3    Lee, P.4    Andrews, C.5    Beutler, E.6
  • 8
    • 77957340866 scopus 로고    scopus 로고
    • Ferroportin disease: A systematic meta-analysis of clinical and molecular findings
    • R. Mayr, A.R. Janecke, and M. Schranz Ferroportin disease: a systematic meta-analysis of clinical and molecular findings J Hepatol 53 2010 941 949
    • (2010) J Hepatol , vol.53 , pp. 941-949
    • Mayr, R.1    Janecke, A.R.2    Schranz, M.3
  • 9
    • 77952692111 scopus 로고    scopus 로고
    • 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
    • K. Saja, P. Bignell, and K. Robson 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 149 2010 914 916
    • (2010) Br J Haematol , vol.149 , pp. 914-916
    • Saja, K.1    Bignell, P.2    Robson, K.3
  • 12
    • 73549097259 scopus 로고    scopus 로고
    • Functional analysis and theoretical modeling of ferroportin reveals clustering of mutations according to phenotype
    • D.F. Wallace, J.M. Harris, and V.N. Subramaniam Functional analysis and theoretical modeling of ferroportin reveals clustering of mutations according to phenotype Am J Physiol Cell Physiol 298 2010 C75 C84
    • (2010) Am J Physiol Cell Physiol , vol.298
    • Wallace, D.F.1    Harris, J.M.2    Subramaniam, V.N.3
  • 13
    • 59649083156 scopus 로고    scopus 로고
    • Investigation of the biophysical and cell biological properties of ferroportin, a multipass integral membrane protein iron exporter
    • A.E. Rice, M.J. Mendez, and C.A. Hokanson Investigation of the biophysical and cell biological properties of ferroportin, a multipass integral membrane protein iron exporter J Mol Biol 386 2009 717 732
    • (2009) J Mol Biol , vol.386 , pp. 717-732
    • Rice, A.E.1    Mendez, M.J.2    Hokanson, C.A.3
  • 14
    • 48149090865 scopus 로고    scopus 로고
    • The hepcidin-binding site on ferroportin is evolutionarily conserved
    • I. De Domenico, E. Nemeth, and J.M. Nelson The hepcidin-binding site on ferroportin is evolutionarily conserved Cell Metab 8 2008 146 156
    • (2008) Cell Metab , vol.8 , pp. 146-156
    • De Domenico, I.1    Nemeth, E.2    Nelson, J.M.3
  • 15
    • 77950602774 scopus 로고    scopus 로고
    • Clinical presentation and molecular pathophysiology of autosomal dominant hemochromatosis caused by a novel ferroportin mutation
    • W.J. Griffiths, R. Mayr, and I. McFarlane Clinical presentation and molecular pathophysiology of autosomal dominant hemochromatosis caused by a novel ferroportin mutation Hepatology 51 2010 788 795
    • (2010) Hepatology , vol.51 , pp. 788-795
    • Griffiths, W.J.1    Mayr, R.2    McFarlane, I.3
  • 18
    • 0034733635 scopus 로고    scopus 로고
    • A novel mammalian iron-regulated protein involved in intracellular iron metabolism
    • DOI 10.1074/jbc.M000713200
    • S. Abboud, and D.J. Haile A novel mammalian iron-regulated protein involved in intracellular iron metabolism J Biol Chem 275 2000 19906 19912 (Pubitemid 30441595)
    • (2000) Journal of Biological Chemistry , vol.275 , Issue.26 , pp. 19906-19912
    • Abboud, S.1    Haile, D.J.2
  • 19
    • 0035896581 scopus 로고    scopus 로고
    • A new mouse liver-specific gene, encoding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during iron overload
    • C. Pigeon, G. Ilyin, and B. Courselaud A new mouse liver-specific gene, encoding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during iron overload J Biol Chem 276 2001 7811 7819
    • (2001) J Biol Chem , vol.276 , pp. 7811-7819
    • Pigeon, C.1    Ilyin, G.2    Courselaud, B.3
  • 20
    • 0036791486 scopus 로고    scopus 로고
    • The gene encoding the iron regulatory peptide hepcidin is regulated by anemia, hypoxia, and inflammation
    • G. Nicolas, C. Chauvet, and L. Viatte The gene encoding the iron regulatory peptide hepcidin is regulated by anemia, hypoxia, and inflammation J Clin Invest 110 2002 1037 1044
    • (2002) J Clin Invest , vol.110 , pp. 1037-1044
    • Nicolas, G.1    Chauvet, C.2    Viatte, L.3
  • 21
    • 68949220321 scopus 로고    scopus 로고
    • ER stress controls iron metabolism through induction of hepcidin
    • C. Vecchi, G. Montosi, and K. Zhang ER stress controls iron metabolism through induction of hepcidin Science 325 2009 877 880
    • (2009) Science , vol.325 , pp. 877-880
    • Vecchi, C.1    Montosi, G.2    Zhang, K.3
  • 22
    • 10844258104 scopus 로고    scopus 로고
    • Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization
    • DOI 10.1126/science.1104742
    • E. Nemeth, M.S. Tuttle, and J. Powelson Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization Science 306 2004 2090 2093 (Pubitemid 40007660)
    • (2004) Science , vol.306 , Issue.5704 , pp. 2090-2093
    • Nemeth, E.1    Tuttle, M.S.2    Powelson, J.3    Vaughn, M.D.4    Donovan, A.5    Ward, D.M.6    Ganz, T.7    Kaplan, J.8
  • 23
    • 62649135982 scopus 로고    scopus 로고
    • Hepcidin-induced internalization of ferroportin requires binding and cooperative interaction with Jak2
    • I. De Domenico, E. Lo, and D.M. Ward Hepcidin-induced internalization of ferroportin requires binding and cooperative interaction with Jak2 Proc Natl Acad Sci U S A 106 2009 3800 3805
    • (2009) Proc Natl Acad Sci U S A , vol.106 , pp. 3800-3805
    • De Domenico, I.1    Lo, E.2    Ward, D.M.3
  • 24
    • 0035253005 scopus 로고    scopus 로고
    • Integration of genome data and protein structures: Prediction of protein folds, protein interactions and 'molecular phenotypes' of single nucleotide polymorphisms
    • DOI 10.1016/S0959-440X(00)00175-5
    • S. Sunyaev, W. Lathe III, and P. Bork Integration of genome data and protein structures: prediction of protein folds, protein interactions and "molecular phenotypes" of single nucleotide polymorphisms Curr Opin Struct Biol 11 2001 125 130 (Pubitemid 32162106)
    • (2001) Current Opinion in Structural Biology , vol.11 , Issue.1 , pp. 125-130
    • Sunyaev, S.1    Lathe, W.2    Bork, P.3
  • 25
    • 0036713510 scopus 로고    scopus 로고
    • Human non-synonymous SNPs: Server and survey
    • V. Ramensky, P. Bork, and S. Sunyaev Human non-synonymous SNPs: server and survey Nucleic Acids Res 30 2002 3894 3900 (Pubitemid 35012462)
    • (2002) Nucleic Acids Research , vol.30 , Issue.17 , pp. 3894-3900
    • Ramensky, V.1    Bork, P.2    Sunyaev, S.3
  • 26
    • 1542463976 scopus 로고    scopus 로고
    • When blood is too iron-rich
    • Hemochromatosis
    • Hemochromatosis when blood is too iron-rich Harv Womens Health Watch 11 2003 1 3
    • (2003) Harv Womens Health Watch , vol.11 , pp. 1-3
  • 27
    • 0031730532 scopus 로고    scopus 로고
    • Evaluation and interpretation of iron in the liver
    • B. Turlin, and Y. Deugnier Evaluation and interpretation of iron in the liver Semin Diagn Pathol 15 1998 237 245 (Pubitemid 28536757)
    • (1998) Seminars in Diagnostic Pathology , vol.15 , Issue.4 , pp. 237-245
    • Turlin, B.1    Deugnier, Y.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.