메뉴 건너뛰기




Volumn 151, Issue 20, 2007, Pages 1121-1127

Hereditary haemochromatosis: Novel genes, novel diseases and hepcidin;Hereditaire hemochromatose: Nieuwe genen, nieuwe ziekten en hepcidine

Author keywords

[No Author keywords available]

Indexed keywords

FERRITIN; FERROPORTIN 1; HEPCIDIN; HFE PROTEIN; IRON; ANTIMICROBIAL CATIONIC PEPTIDE; HFE PROTEIN, HUMAN; HLA ANTIGEN CLASS 1; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

EID: 34447095257     PISSN: 00282162     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (3)

References (33)
  • 1
    • 33646899011 scopus 로고    scopus 로고
    • Hereditary hemochromatosis: Genetic complexity and new diagnostic approaches
    • Swinkels DW, Janssen MC, Bergmans J, Marx JJM. Hereditary hemochromatosis: genetic complexity and new diagnostic approaches. Clin Chem. 2006;52:950-68.
    • (2006) Clin Chem , vol.52 , pp. 950-968
    • Swinkels, D.W.1    Janssen, M.C.2    Bergmans, J.3    Marx, J.J.M.4
  • 2
    • 85117738575 scopus 로고    scopus 로고
    • Kemna EHJM, Pickkers P, Nemeth E, Hoeven H van der, Swinkels DW. Time-course analysis of hepcidin, serum iron, and plasma cytokine levels in humans injected with LPS. Blood. 2005;106:1864-6.
    • Kemna EHJM, Pickkers P, Nemeth E, Hoeven H van der, Swinkels DW. Time-course analysis of hepcidin, serum iron, and plasma cytokine levels in humans injected with LPS. Blood. 2005;106:1864-6.
  • 3
    • 0038662619 scopus 로고    scopus 로고
    • Hepcidin, a putative mediator of anemia of inflammation, is a type II acute-phase protein
    • Nemeth E, Valore EV, 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;101:2461-3.
    • (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
  • 4
    • 10844258104 scopus 로고    scopus 로고
    • 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;306:2090-3.
    • (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
    • 0037420524 scopus 로고    scopus 로고
    • Van gen naar ziekte; HFE-mutaties bij primaire hemochromatose
    • Swinkels DW, Jacobs EMG. Van gen naar ziekte; HFE-mutaties bij primaire hemochromatose. Ned Tijdschr Geneeskd. 2003;147:652-6.
    • (2003) Ned Tijdschr Geneeskd , vol.147 , pp. 652-656
    • Swinkels, D.W.1    Jacobs, E.M.G.2
  • 7
    • 20244388240 scopus 로고    scopus 로고
    • 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;33:21-2.
    • (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
  • 9
    • 0034930197 scopus 로고    scopus 로고
    • Njajou OT, Vaessen N, Joosse M, Berghuis B, Dongen JW van, Breuning MH, et al. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. Nat Genet. 2001;28:213-4.
    • Njajou OT, Vaessen N, Joosse M, Berghuis B, Dongen JW van, Breuning MH, et al. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. Nat Genet. 2001;28:213-4.
  • 10
    • 12844260664 scopus 로고    scopus 로고
    • Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload
    • Mims MP, Guan Y, Pospisilova D, Priwitzerova M, Indrak K, Ponka P, et al. Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload. Blood. 2005;105:1337-42.
    • (2005) Blood , vol.105 , pp. 1337-1342
    • Mims, M.P.1    Guan, Y.2    Pospisilova, D.3    Priwitzerova, M.4    Indrak, K.5    Ponka, P.6
  • 11
    • 33646370235 scopus 로고    scopus 로고
    • Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression
    • Babitt JL, Huang FW, Wrighting DM, Xia Y, Sidis Y, Samad TA, et al. Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression. Nat Genet. 2006;38:531-9.
    • (2006) Nat Genet , vol.38 , pp. 531-539
    • Babitt, J.L.1    Huang, F.W.2    Wrighting, D.M.3    Xia, Y.4    Sidis, Y.5    Samad, T.A.6
  • 12
    • 9344224529 scopus 로고    scopus 로고
    • 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
  • 13
    • 2542560427 scopus 로고    scopus 로고
    • 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;350:2383-97.
    • (2004) N Engl J Med , vol.350 , pp. 2383-2397
    • Pietrangelo, A.1
  • 14
    • 21344454916 scopus 로고    scopus 로고
    • Jacobs EMG, Meulendijks CF, Elving LD, Wilt GJ van der, Swinkels DW. Impact of the introduction of a guideline on the targeted detection of hereditary haemochromatosis. Neth J Med. 2005;63:205-14.
    • Jacobs EMG, Meulendijks CF, Elving LD, Wilt GJ van der, Swinkels DW. Impact of the introduction of a guideline on the targeted detection of hereditary haemochromatosis. Neth J Med. 2005;63:205-14.
  • 15
    • 0037420490 scopus 로고    scopus 로고
    • Jacobs EMG, Vries RA de, Elving LD, Stalenhoef AFH, Swinkels DW. Diagnostiek bij 5 patiënten met mogelijk primaire hemochromatose. Ned Tijdschr Geneeskd. 2003;147:666-70.
    • Jacobs EMG, Vries RA de, Elving LD, Stalenhoef AFH, Swinkels DW. Diagnostiek bij 5 patiënten met mogelijk primaire hemochromatose. Ned Tijdschr Geneeskd. 2003;147:666-70.
  • 17
    • 0034891077 scopus 로고    scopus 로고
    • Hyperferritinemia, iron overload, and multiple metabolic alterations identify patients at risk for nonalcoholic steatohepatitis
    • Fargion S, Mattioli M, Fracanzani AL, Sampietro M, Tavazzi D, Fociani P, et al. Hyperferritinemia, iron overload, and multiple metabolic alterations identify patients at risk for nonalcoholic steatohepatitis. Am J Gastroenterol. 2001;96:2448-55.
    • (2001) Am J Gastroenterol , vol.96 , pp. 2448-2455
    • Fargion, S.1    Mattioli, M.2    Fracanzani, A.L.3    Sampietro, M.4    Tavazzi, D.5    Fociani, P.6
  • 18
    • 0033519859 scopus 로고    scopus 로고
    • Diagnostiek en behandeling van primaire hemochromatose
    • Swinkels DW, Marx JJM. Diagnostiek en behandeling van primaire hemochromatose. Ned Tijdschr Geneeskd. 1999;143:1404-8.
    • (1999) Ned Tijdschr Geneeskd , vol.143 , pp. 1404-1408
    • Swinkels, D.W.1    Marx, J.J.M.2
  • 19
    • 0037132786 scopus 로고    scopus 로고
    • Penetrance of 845G→ A (C282Y) HFE hereditary haemochromatosis mutation in the USA
    • Beutler E, Felitti VJ, Koziol JA, Ho NJ, Gelbart T. Penetrance of 845G→ A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet. 2002;359:211-8.
    • (2002) Lancet , vol.359 , pp. 211-218
    • Beutler, E.1    Felitti, V.J.2    Koziol, J.A.3    Ho, N.J.4    Gelbart, T.5
  • 20
    • 34447290277 scopus 로고    scopus 로고
    • Dijk BAC van, Kemna EHJM, Tjalsma H, Klaver SM, Wiegerinck ETG, Goossens JP, et al. A new hemojuvelin mutation - HJV-L165X: no evidence for a modifying effect on penetrance of HFE in an extended Dutch family with hereditary hemochromatosis. Blood. [ter perse].
    • Dijk BAC van, Kemna EHJM, Tjalsma H, Klaver SM, Wiegerinck ETG, Goossens JP, et al. A new hemojuvelin mutation - HJV-L165X: no evidence for a modifying effect on penetrance of HFE in an extended Dutch family with hereditary hemochromatosis. Blood. [ter perse].
  • 21
    • 33746802494 scopus 로고    scopus 로고
    • Screening for hemochromatosis: Recommendation statement
    • US Preventive Services Task Force
    • US Preventive Services Task Force. Screening for hemochromatosis: recommendation statement. Ann Intern Med. 2006;145:204-8.
    • (2006) Ann Intern Med , vol.145 , pp. 204-208
  • 22
    • 14544303567 scopus 로고    scopus 로고
    • Role of early case detection by screening relatives of patients with HFE-associated hereditary haemochromatosis
    • Powell LW, Dixon JL, Hewett DG. Role of early case detection by screening relatives of patients with HFE-associated hereditary haemochromatosis. Best Pract Res Clin Haematol. 2005;18:221-34.
    • (2005) Best Pract Res Clin Haematol , vol.18 , pp. 221-234
    • Powell, L.W.1    Dixon, J.L.2    Hewett, D.G.3
  • 23
    • 0037460697 scopus 로고    scopus 로고
    • Disrupted hepcidin regulation in HFE-associated haemochromatosis and the liver as a regulator of body iron homoeostasis
    • Bridle KR, Frazer DM, Wilkins SJ, Dixon JL, Purdie DM, Crawford DH, et al. Disrupted hepcidin regulation in HFE-associated haemochromatosis and the liver as a regulator of body iron homoeostasis. Lancet. 2003;361:669-73.
    • (2003) Lancet , vol.361 , pp. 669-673
    • Bridle, K.R.1    Frazer, D.M.2    Wilkins, S.J.3    Dixon, J.L.4    Purdie, D.M.5    Crawford, D.H.6
  • 26
    • 34147197662 scopus 로고    scopus 로고
    • Mass spectrometry-based hepcidin measurements in serum and urine: Analytical aspects and clinical implications
    • Kemna EHJM, Tjaisma H, Podust VN, Swinkels DW. Mass spectrometry-based hepcidin measurements in serum and urine: analytical aspects and clinical implications. Clin Chem. 2007;53:620-8.
    • (2007) Clin Chem , vol.53 , pp. 620-628
    • Kemna, E.H.J.M.1    Tjaisma, H.2    Podust, V.N.3    Swinkels, D.W.4
  • 29
    • 33751175421 scopus 로고    scopus 로고
    • Interleukin-6 induces hepcidin expression through STAT3
    • Wrighting DM, Andrews NC. Interleukin-6 induces hepcidin expression through STAT3. Blood. 2006;108:3204-9.
    • (2006) Blood , vol.108 , pp. 3204-3209
    • Wrighting, D.M.1    Andrews, N.C.2
  • 30
    • 0037111732 scopus 로고    scopus 로고
    • Inappropriate expression of hepcidin is associated with iron refractory anemia: Implications for the anemia of chronic disease
    • Weinstein DA, Roy CN, Fleming MD, Loda MF, Wolfsdorf JI, Andrews NC. Inappropriate expression of hepcidin is associated with iron refractory anemia: implications for the anemia of chronic disease. Blood. 2002;100:3776-81.
    • (2002) Blood , vol.100 , pp. 3776-3781
    • Weinstein, D.A.1    Roy, C.N.2    Fleming, M.D.3    Loda, M.F.4    Wolfsdorf, J.I.5    Andrews, N.C.6
  • 32
    • 11244355277 scopus 로고    scopus 로고
    • Noninvasive measurement and imaging of liver iron concentrations using proton magnetic resonance
    • St Pierre TG, Clark PR, Chua-anusorn W, Fleming AJ, Jeffrey GP, Olynyk JK, et al. Noninvasive measurement and imaging of liver iron concentrations using proton magnetic resonance. Blood. 2005; 105:855-61.
    • (2005) Blood , vol.105 , pp. 855-861
    • St Pierre, T.G.1    Clark, P.R.2    Chua-anusorn, W.3    Fleming, A.J.4    Jeffrey, G.P.5    Olynyk, J.K.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.