메뉴 건너뛰기




Volumn 33, Issue 9, 2003, Pages 737-739

Low clinical penetrance of homozygosity for HFE C282Y: Implications for genetic testing?

Author keywords

[No Author keywords available]

Indexed keywords

MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 1;

EID: 0042835356     PISSN: 00142972     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2362.2003.01224.x     Document Type: Editorial
Times cited : (4)

References (28)
  • 1
    • 0043234486 scopus 로고    scopus 로고
    • You may live 100 years homozygous for a haemochromatosis gene mutation
    • Piippo K, Louhija J, Tilvis R, Kontula K. You may live 100 years homozygous for a haemochromatosis gene mutation. Eur J Clin Invest 2003;33:830-831.
    • (2003) Eur J Clin Invest , vol.33 , pp. 830-831
    • Piippo, K.1    Louhija, J.2    Tilvis, R.3    Kontula, K.4
  • 2
    • 0036428690 scopus 로고    scopus 로고
    • No increase in mortality and morbidity among carriers of the C282Y mutation of the hereditary haemochromatosis gene in the oldest old: The Leiden 85-plus study
    • van Aken MO, de Craen AJM, Gussekloo J, Moghaddam PH, Vandenbroucke JP, Heijmans BT et al. No increase in mortality and morbidity among carriers of the C282Y mutation of the hereditary haemochromatosis gene in the oldest old: the Leiden 85-plus study. Eur J Clin Invest 2002;32:750-4.
    • (2002) Eur J Clin Invest , vol.32 , pp. 750-754
    • Van Aken, M.O.1    De Craen, A.J.M.2    Gussekloo, J.3    Moghaddam, P.H.4    Vandenbroucke, J.P.5    Heijmans, B.T.6
  • 3
    • 0037397458 scopus 로고    scopus 로고
    • Association between the HFE mutations and longevity: A study in Sardinian population
    • Carru C, Pes GM, Deiana L, Baggio G, Franceschi C, Lio D et al. Association between the HFE mutations and longevity: a study in Sardinian population. Mech Ageing Dev 2003;124:529-32.
    • (2003) Mech Ageing Dev , vol.124 , pp. 529-532
    • Carru, C.1    Pes, G.M.2    Deiana, L.3    Baggio, G.4    Franceschi, C.5    Lio, D.6
  • 5
    • 0035795607 scopus 로고    scopus 로고
    • Prevalence of C282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States
    • Steinberg KK, Cogswell ME, Chang JC, Caudill SP, McQuillan GM, Bowman BA et al. Prevalence of C282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States. JAMA 2001;285:2216-22.
    • (2001) JAMA , vol.285 , pp. 2216-2222
    • Steinberg, K.K.1    Cogswell, M.E.2    Chang, J.C.3    Caudill, S.P.4    McQuillan, G.M.5    Bowman, B.A.6
  • 6
    • 0033511076 scopus 로고    scopus 로고
    • New developments in hereditary hemochromatosis
    • Felitti VJ, Beutler E. New developments in hereditary hemochromatosis. Am J Med Sci 1999;318:257-68.
    • (1999) Am J Med Sci , vol.318 , pp. 257-268
    • Felitti, V.J.1    Beutler, E.2
  • 7
    • 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
  • 8
    • 0032913806 scopus 로고    scopus 로고
    • Inherited disorders of iron metabolism
    • Födinger M, Sunder-Plassmann G. Inherited disorders of iron metabolism. Kidney Int 1999;55 (Suppl. 69):S22-34.
    • (1999) Kidney Int , vol.55 , Issue.69 SUPPL.
    • Födinger, M.1    Sunder-Plassmann, G.2
  • 10
    • 13144282684 scopus 로고    scopus 로고
    • The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding
    • Feder JN, Penny DM, Irrinki A, Lee VK, Lebron JA, Watson N et al. The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc Natl Acad Sci USA 1998;95:1472-7.
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 1472-1477
    • Feder, J.N.1    Penny, D.M.2    Irrinki, A.3    Lee, V.K.4    Lebron, J.A.5    Watson, N.6
  • 12
    • 0037022588 scopus 로고    scopus 로고
    • Regulation of transferrin-mediated iron uptake by HFE, the protein defective in hereditary hemochromatosis
    • Waheed A, Grubb JH, Zhou XY, Tomatsu S, Fleming RE, Costaldi ME et al. Regulation of transferrin-mediated iron uptake by HFE, the protein defective in hereditary hemochromatosis. Proc Natl Acad Sci USA 2002;99:3117-22.
    • (2002) Proc Natl Acad Sci USA , vol.99 , pp. 3117-3122
    • Waheed, A.1    Grubb, J.H.2    Zhou, X.Y.3    Tomatsu, S.4    Fleming, R.E.5    Costaldi, M.E.6
  • 13
    • 0035425811 scopus 로고    scopus 로고
    • HFE gene and hereditary hemochromatosis: A HuGE review
    • Hanson EH, Imperatore G, Burke W. HFE gene and hereditary hemochromatosis: a HuGE review. Am J Epidemiol 2001;154:193-206.
    • (2001) Am J Epidemiol , vol.154 , pp. 193-206
    • Hanson, E.H.1    Imperatore, G.2    Burke, W.3
  • 14
    • 0031016791 scopus 로고    scopus 로고
    • Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda
    • Roberts AG, Whatley SD, Morgan RR, Worwood M, Elder GH. Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda. Lancet 1997;349:321-3.
    • (1997) Lancet , vol.349 , pp. 321-323
    • Roberts, A.G.1    Whatley, S.D.2    Morgan, R.R.3    Worwood, M.4    Elder, G.H.5
  • 17
    • 17944369464 scopus 로고    scopus 로고
    • Screening for hemochromatosis: High prevalence and low morbidity in an unselected population of 65 238 persons
    • Asberg A, Hveem K, Thorstensen K, Ellekjter E, Kannelonning K, Fjosne U et al. Screening for hemochromatosis: high prevalence and low morbidity in an unselected population of 65 238 persons. Scand J Gastroenterol 2001;36:1108-15.
    • (2001) Scand J Gastroenterol , vol.36 , pp. 1108-1115
    • Asberg, A.1    Hveem, K.2    Thorstensen, K.3    Ellekjter, E.4    Kannelonning, K.5    Fjosne, U.6
  • 19
    • 0038542813 scopus 로고    scopus 로고
    • The HFE Cys282Tyr mutation as a necessary but not sufficient cause of clinical hereditary hemochromatosis
    • Beutler E. The HFE Cys282Tyr mutation as a necessary but not sufficient cause of clinical hereditary hemochromatosis. Blood 2003;101:3347-50.
    • (2003) Blood , vol.101 , pp. 3347-3350
    • Beutler, E.1
  • 22
    • 0037164344 scopus 로고    scopus 로고
    • Genetics of haemochromatosis
    • Bomford A. Genetics of haemochromatosis. Lancet 2002;360:1673-81.
    • (2002) Lancet , vol.360 , pp. 1673-1681
    • Bomford, A.1
  • 23
    • 0036177909 scopus 로고    scopus 로고
    • A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation
    • Gochee PA, Powell LW, Cullen DJ, Du Sart D, Rossi E, Olynyk JK. A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation. Gastroenterology 2002;122:646-51.
    • (2002) Gastroenterology , vol.122 , pp. 646-651
    • Gochee, P.A.1    Powell, L.W.2    Cullen, D.J.3    Du Sart, D.4    Rossi, E.5    Olynyk, J.K.6
  • 24
    • 0036696875 scopus 로고    scopus 로고
    • Liver pathology in compound heterozygous patients for hemochromatosis mutations
    • Schöniger-Hekele M, Müller C, Polli C, Wrba F, Penner E, Ferenci P. Liver pathology in compound heterozygous patients for hemochromatosis mutations. Liver 2002;22:295-301.
    • (2002) Liver , vol.22 , pp. 295-301
    • Schöniger-Hekele, M.1    Müller, C.2    Polli, C.3    Wrba, F.4    Penner, E.5    Ferenci, P.6
  • 25
    • 0033066062 scopus 로고    scopus 로고
    • A genotypic study of 217 unrelated probands diagnosed as 'genetic hemochromatosis' on 'classical' phenotypic criteria
    • Brissot P, Moirand R, Jouanolle AM, Guyader D, Le Gall JY, Deugnier Y et al. A genotypic study of 217 unrelated probands diagnosed as 'genetic hemochromatosis' on 'classical' phenotypic criteria. J Hepatol 1999;30:588-93.
    • (1999) J Hepatol , vol.30 , pp. 588-593
    • Brissot, P.1    Moirand, R.2    Jouanolle, A.M.3    Guyader, D.4    Le Gall, J.Y.5    Deugnier, Y.6
  • 27
    • 0037336495 scopus 로고    scopus 로고
    • HFE mutations and chronic hepatitis C. H63D and C282Y heterozygosity are independent risk factors for liver fibrosis and cirrhosis
    • Erhardt A, Maschner-Olberg A, Mellenthin C, Kappert G, Adams O, Donner A et al. HFE mutations and chronic hepatitis C. H63D and C282Y heterozygosity are independent risk factors for liver fibrosis and cirrhosis. J Hepatol 2003;38:335-42.
    • (2003) J Hepatol , vol.38 , pp. 335-342
    • Erhardt, A.1    Maschner-Olberg, A.2    Mellenthin, C.3    Kappert, G.4    Adams, O.5    Donner, A.6
  • 28
    • 0035038147 scopus 로고    scopus 로고
    • Diagnosis and management of hemochromatosis
    • Tavill AS. Diagnosis and management of hemochromatosis. Hepatology 2001;33:1321-8.
    • (2001) Hepatology , vol.33 , pp. 1321-1328
    • Tavill, A.S.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.