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Volumn 1790, Issue 7, 2009, Pages 663-670

Co-factors in liver disease: The role of HFE-related hereditary hemochromatosis and iron

Author keywords

Alcohol; Hemochromatosis; Hepatitis; Iron; Liver; Porphyria cutanea tarda

Indexed keywords

HFE PROTEIN; IRON;

EID: 67349267809     PISSN: 03044165     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbagen.2008.09.002     Document Type: Review
Times cited : (40)

References (148)
  • 3
    • 21044434748 scopus 로고    scopus 로고
    • First phenotypic description of transferrin receptor 2 knockout mouse, and the role of hepcidin
    • Wallace D.F., Summerville L., Lusby P.E., and Subramaniam V.N. First phenotypic description of transferrin receptor 2 knockout mouse, and the role of hepcidin. Gut 54 (2005) 980-986
    • (2005) Gut , vol.54 , pp. 980-986
    • Wallace, D.F.1    Summerville, L.2    Lusby, P.E.3    Subramaniam, V.N.4
  • 5
    • 23644444316 scopus 로고    scopus 로고
    • Hemojuvelin is essential for dietary iron sensing, and its mutation leads to severe iron overload
    • Niederkofler V., Salie R., and Arber S. Hemojuvelin is essential for dietary iron sensing, and its mutation leads to severe iron overload. J. Clin. Invest. 115 (2005) 2180-2186
    • (2005) J. Clin. Invest. , vol.115 , pp. 2180-2186
    • Niederkofler, V.1    Salie, R.2    Arber, S.3
  • 9
    • 33846225653 scopus 로고    scopus 로고
    • Targeted disruption of the hepatic transferrin receptor 2 gene in mice leads to iron overload
    • Wallace D.F., Summerville L., and Subramaniam V.N. Targeted disruption of the hepatic transferrin receptor 2 gene in mice leads to iron overload. Gastroenterology 132 (2007) 301-310
    • (2007) Gastroenterology , vol.132 , pp. 301-310
    • Wallace, D.F.1    Summerville, L.2    Subramaniam, V.N.3
  • 12
    • 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
    • Pigeon C., Ilyin G., Courselaud B., Leroyer P., Turlin B., Brissot P., and Loreal O. 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    Leroyer, P.4    Turlin, B.5    Brissot, P.6    Loreal, O.7
  • 15
    • 24744458603 scopus 로고    scopus 로고
    • Synthetic hepcidin causes rapid dose-dependent hypoferremia and is concentrated in ferroportin-containing organs
    • Rivera S., Nemeth E., Gabayan V., Lopez M.A., Farshidi D., and Ganz T. Synthetic hepcidin causes rapid dose-dependent hypoferremia and is concentrated in ferroportin-containing organs. Blood 106 (2005) 2196-2199
    • (2005) Blood , vol.106 , pp. 2196-2199
    • Rivera, S.1    Nemeth, E.2    Gabayan, V.3    Lopez, M.A.4    Farshidi, D.5    Ganz, T.6
  • 16
    • 10844258104 scopus 로고    scopus 로고
    • 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., and Kaplan J. Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization. Science 306 (2004) 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
    • 0030827084 scopus 로고    scopus 로고
    • The significance of the 187G (H63D) mutation in hemochromatosis
    • Beutler E. The significance of the 187G (H63D) mutation in hemochromatosis. Am. J. Hum. Genet. 61 (1997) 762-764
    • (1997) Am. J. Hum. Genet. , vol.61 , pp. 762-764
    • Beutler, E.1
  • 21
    • 0037132786 scopus 로고    scopus 로고
    • Penetrance of 845G→A (C282Y) HFE hereditary haemochromatosis mutation in the USA
    • Beutler E., Felitti V.J., Koziol J.A., Ho N.J., and Gelbart T. Penetrance of 845G→A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet 359 (2002) 211-218
    • (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
  • 29
    • 0031974301 scopus 로고    scopus 로고
    • Secondary iron overload disorders
    • Bottomley S.S. Secondary iron overload disorders. Semin. Hematol. 35 (1998) 77-86
    • (1998) Semin. Hematol. , vol.35 , pp. 77-86
    • Bottomley, S.S.1
  • 30
    • 0036111254 scopus 로고    scopus 로고
    • Hereditary hemochromatosis and iron overload diseases
    • Powell L.W. Hereditary hemochromatosis and iron overload diseases. J. Gastroenterol. Hepatol. 17 Suppl (2002) S191-S195
    • (2002) J. Gastroenterol. Hepatol. , vol.17 , Issue.SUPPL
    • Powell, L.W.1
  • 31
    • 47149091490 scopus 로고    scopus 로고
    • Environmental and genetic modifiers of the progression to fibrosis and cirrhosis in hemochromatosis
    • Wood M.J., Powell L.W., and Ramm G.A. Environmental and genetic modifiers of the progression to fibrosis and cirrhosis in hemochromatosis. Blood 111 (2008) 4456-4462
    • (2008) Blood , vol.111 , pp. 4456-4462
    • Wood, M.J.1    Powell, L.W.2    Ramm, G.A.3
  • 32
    • 0031054425 scopus 로고    scopus 로고
    • Hepatic stellate cell activation in genetic haemochromatosis. Lobular distribution, effect of increasing hepatic iron and response to phlebotomy
    • Ramm G.A., Crawford D.H., Powell L.W., Walker N.I., Fletcher L.M., and Halliday J.W. Hepatic stellate cell activation in genetic haemochromatosis. Lobular distribution, effect of increasing hepatic iron and response to phlebotomy. J. Hepatol. 26 (1997) 584-592
    • (1997) J. Hepatol. , vol.26 , pp. 584-592
    • Ramm, G.A.1    Crawford, D.H.2    Powell, L.W.3    Walker, N.I.4    Fletcher, L.M.5    Halliday, J.W.6
  • 33
  • 38
    • 0041382552 scopus 로고    scopus 로고
    • Iron as a co-morbid factor in nonhemochromatotic liver disease
    • Bonkovsky H.L., Lambrecht R.W., and Shan Y. Iron as a co-morbid factor in nonhemochromatotic liver disease. Alcohol 30 (2003) 137-144
    • (2003) Alcohol , vol.30 , pp. 137-144
    • Bonkovsky, H.L.1    Lambrecht, R.W.2    Shan, Y.3
  • 39
    • 0029827481 scopus 로고    scopus 로고
    • Clinical and biochemical abnormalities in people heterozygous for hemochromatosis
    • Bulaj Z.J., Griffen L.M., Jorde L.B., Edwards C.Q., and Kushner J.P. Clinical and biochemical abnormalities in people heterozygous for hemochromatosis. N. Engl. J. Med. 335 (1996) 1799-1805
    • (1996) N. Engl. J. Med. , vol.335 , pp. 1799-1805
    • Bulaj, Z.J.1    Griffen, L.M.2    Jorde, L.B.3    Edwards, C.Q.4    Kushner, J.P.5
  • 40
    • 0031037009 scopus 로고    scopus 로고
    • Genetic irony beyond haemochromatosis: clinical effects of HLA-H mutations
    • Beutler E. Genetic irony beyond haemochromatosis: clinical effects of HLA-H mutations. Lancet 349 (1997) 296-297
    • (1997) Lancet , vol.349 , pp. 296-297
    • Beutler, E.1
  • 42
    • 0033005331 scopus 로고    scopus 로고
    • Mechanisms of immune escape in viral hepatitis
    • Rosenberg W. Mechanisms of immune escape in viral hepatitis. Gut 44 (1999) 759-764
    • (1999) Gut , vol.44 , pp. 759-764
    • Rosenberg, W.1
  • 43
    • 0032583933 scopus 로고    scopus 로고
    • Hepatitis C
    • Di Bisceglie A.M. Hepatitis C. Lancet 351 (1998) 351-355
    • (1998) Lancet , vol.351 , pp. 351-355
    • Di Bisceglie, A.M.1
  • 47
    • 0028318340 scopus 로고
    • Improvement of serum aminotransferase levels after phlebotomy in patients with chronic active hepatitis C and excess hepatic iron
    • Hayashi H., Takikawa T., Nishimura N., Yano M., Isomura T., and Sakamoto N. Improvement of serum aminotransferase levels after phlebotomy in patients with chronic active hepatitis C and excess hepatic iron. Am. J. Gastroenterol. 89 (1994) 986-988
    • (1994) Am. J. Gastroenterol. , vol.89 , pp. 986-988
    • Hayashi, H.1    Takikawa, T.2    Nishimura, N.3    Yano, M.4    Isomura, T.5    Sakamoto, N.6
  • 49
    • 34247638591 scopus 로고    scopus 로고
    • Effect of iron depletion on serum markers of fibrogenesis, oxidative stress and serum liver enzymes in chronic hepatitis C: results of a pilot study
    • Alexander J., Tung B.Y., Croghan A., and Kowdley K.V. Effect of iron depletion on serum markers of fibrogenesis, oxidative stress and serum liver enzymes in chronic hepatitis C: results of a pilot study. Liver Int. 27 (2007) 268-273
    • (2007) Liver Int. , vol.27 , pp. 268-273
    • Alexander, J.1    Tung, B.Y.2    Croghan, A.3    Kowdley, K.V.4
  • 51
    • 0036165333 scopus 로고    scopus 로고
    • Mitochondrial injury, oxidative stress, and antioxidant gene expression are induced by hepatitis C virus core protein
    • Okuda M., Li K., Beard M.R., Showalter L.A., Scholle F., Lemon S.M., and Weinman S.A. Mitochondrial injury, oxidative stress, and antioxidant gene expression are induced by hepatitis C virus core protein. Gastroenterology 122 (2002) 366-375
    • (2002) Gastroenterology , vol.122 , pp. 366-375
    • Okuda, M.1    Li, K.2    Beard, M.R.3    Showalter, L.A.4    Scholle, F.5    Lemon, S.M.6    Weinman, S.A.7
  • 52
    • 0031801787 scopus 로고    scopus 로고
    • Heterozygosity for hereditary hemochromatosis is associated with more fibrosis in chronic hepatitis C
    • Smith B.C., Gorve J., Guzail M.A., Day C.P., Daly A.K., Burt A.D., and Bassendine M.F. Heterozygosity for hereditary hemochromatosis is associated with more fibrosis in chronic hepatitis C. Hepatology 27 (1998) 1695-1699
    • (1998) Hepatology , vol.27 , pp. 1695-1699
    • Smith, B.C.1    Gorve, J.2    Guzail, M.A.3    Day, C.P.4    Daly, A.K.5    Burt, A.D.6    Bassendine, M.F.7
  • 58
    • 34447338565 scopus 로고    scopus 로고
    • HFE C282Y gene variant is a risk factor for the progression to decompensated liver disease in chronic viral hepatitis C subjects in the Czech population
    • Pacal L., Husa P., Znojil V., and Kankova K. HFE C282Y gene variant is a risk factor for the progression to decompensated liver disease in chronic viral hepatitis C subjects in the Czech population. Hepatol. Res. 37 (2007) 740-747
    • (2007) Hepatol. Res. , vol.37 , pp. 740-747
    • Pacal, L.1    Husa, P.2    Znojil, V.3    Kankova, K.4
  • 60
    • 0344129013 scopus 로고    scopus 로고
    • Liver iron accumulation in patients with chronic active hepatitis C: prevalence and role of hemochromatosis gene mutations and relationship with hepatic histological lesions
    • Hezode C., Cazeneuve C., Coue O., Roudot-Thoraval F., Lonjon I., Bastie A., Duvoux C., Pawlotsky J.M., Zafrani E.S., Amselem S., and Dhumeaux D. Liver iron accumulation in patients with chronic active hepatitis C: prevalence and role of hemochromatosis gene mutations and relationship with hepatic histological lesions. J. Hepatol. 31 (1999) 979-984
    • (1999) J. Hepatol. , vol.31 , pp. 979-984
    • Hezode, C.1    Cazeneuve, C.2    Coue, O.3    Roudot-Thoraval, F.4    Lonjon, I.5    Bastie, A.6    Duvoux, C.7    Pawlotsky, J.M.8    Zafrani, E.S.9    Amselem, S.10    Dhumeaux, D.11
  • 62
    • 0035990966 scopus 로고    scopus 로고
    • Raised serum ferritin predicts non-response to interferon and ribavirin treatment in patients with chronic hepatitis C infection
    • Distante S., Bjoro K., Hellum K.B., Myrvang B., Berg J.P., Skaug K., Raknerud N., and Bell H. Raised serum ferritin predicts non-response to interferon and ribavirin treatment in patients with chronic hepatitis C infection. Liver 22 (2002) 269-275
    • (2002) Liver , vol.22 , pp. 269-275
    • Distante, S.1    Bjoro, K.2    Hellum, K.B.3    Myrvang, B.4    Berg, J.P.5    Skaug, K.6    Raknerud, N.7    Bell, H.8
  • 69
    • 0026454715 scopus 로고
    • Genetic predisposition to alcoholic liver disease
    • Day C.P., and Bassendine M.F. Genetic predisposition to alcoholic liver disease. Gut 33 (1992) 1444-1447
    • (1992) Gut , vol.33 , pp. 1444-1447
    • Day, C.P.1    Bassendine, M.F.2
  • 70
    • 34848886872 scopus 로고    scopus 로고
    • Role of alcohol in the regulation of iron metabolism
    • Harrison-Findik D.D. Role of alcohol in the regulation of iron metabolism. World J. Gastroenterol. 13 (2007) 4925-4930
    • (2007) World J. Gastroenterol. , vol.13 , pp. 4925-4930
    • Harrison-Findik, D.D.1
  • 71
    • 2142809627 scopus 로고    scopus 로고
    • The effect of alcohol consumption on the prevalence of iron overload, iron deficiency, and iron deficiency anemia
    • Ioannou G.N., Dominitz J.A., Weiss N.S., Heagerty P.J., and Kowdley K.V. The effect of alcohol consumption on the prevalence of iron overload, iron deficiency, and iron deficiency anemia. Gastroenterology 126 (2004) 1293-1301
    • (2004) Gastroenterology , vol.126 , pp. 1293-1301
    • Ioannou, G.N.1    Dominitz, J.A.2    Weiss, N.S.3    Heagerty, P.J.4    Kowdley, K.V.5
  • 73
    • 20844437610 scopus 로고    scopus 로고
    • Hepatic iron overload in alcoholic end-stage liver disease is associated with iron deposition in other organs in the absence of HFE-1 hemochromatosis
    • Eng S.C., Taylor S.L., Reyes V., Raaka S., Berger J., and Kowdley K.V. Hepatic iron overload in alcoholic end-stage liver disease is associated with iron deposition in other organs in the absence of HFE-1 hemochromatosis. Liver Int. 25 (2005) 513-517
    • (2005) Liver Int. , vol.25 , pp. 513-517
    • Eng, S.C.1    Taylor, S.L.2    Reyes, V.3    Raaka, S.4    Berger, J.5    Kowdley, K.V.6
  • 75
    • 0029927660 scopus 로고    scopus 로고
    • Alcoholism in hereditary hemochromatosis revisited: prevalence and clinical consequences among homozygous siblings
    • Adams P.C., and Agnew S. Alcoholism in hereditary hemochromatosis revisited: prevalence and clinical consequences among homozygous siblings. Hepatology 23 (1996) 724-727
    • (1996) Hepatology , vol.23 , pp. 724-727
    • Adams, P.C.1    Agnew, S.2
  • 76
    • 0036163634 scopus 로고    scopus 로고
    • Excess alcohol greatly increases the prevalence of cirrhosis in hereditary hemochromatosis
    • Fletcher L.M., Dixon J.L., Purdie D.M., Powell L.W., and Crawford D.H.G. Excess alcohol greatly increases the prevalence of cirrhosis in hereditary hemochromatosis. Gastroenterology 122 (2002) 281-289
    • (2002) Gastroenterology , vol.122 , pp. 281-289
    • Fletcher, L.M.1    Dixon, J.L.2    Purdie, D.M.3    Powell, L.W.4    Crawford, D.H.G.5
  • 79
    • 0031820034 scopus 로고    scopus 로고
    • Heterozygotes for HFE mutations have no increased risk of advanced alcoholic liver disease
    • Grove J., Daly A.K., Burt A.D., Guzail M., James O.F., Bassendine M.F., and Day C.P. Heterozygotes for HFE mutations have no increased risk of advanced alcoholic liver disease. Gut 43 (1998) 262-266
    • (1998) Gut , vol.43 , pp. 262-266
    • Grove, J.1    Daly, A.K.2    Burt, A.D.3    Guzail, M.4    James, O.F.5    Bassendine, M.F.6    Day, C.P.7
  • 80
    • 33644930840 scopus 로고    scopus 로고
    • HFE genotypes in decompensated alcoholic liver disease: phenotypic expression and comparison with heavy drinking and with normal controls
    • Gleeson D., Evans S., Bradley M., Jones J., Peck R.J., Dube A., Rigby E., and Dalton A. HFE genotypes in decompensated alcoholic liver disease: phenotypic expression and comparison with heavy drinking and with normal controls. Am. J. Gastroenterol. 101 (2006) 304-310
    • (2006) Am. J. Gastroenterol. , vol.101 , pp. 304-310
    • Gleeson, D.1    Evans, S.2    Bradley, M.3    Jones, J.4    Peck, R.J.5    Dube, A.6    Rigby, E.7    Dalton, A.8
  • 82
    • 0032415537 scopus 로고    scopus 로고
    • Heterozygosity of the haemochromatosis mutation, C282Y, does not influence susceptibility to alcoholic cirrhosis
    • Frenzer A., Rudzki Z., Norton I.D., Butler W.J., and Roberts-Thomson I.C. Heterozygosity of the haemochromatosis mutation, C282Y, does not influence susceptibility to alcoholic cirrhosis. Scand. J. Gastroenterol. 33 (1998) 1324
    • (1998) Scand. J. Gastroenterol. , vol.33 , pp. 1324
    • Frenzer, A.1    Rudzki, Z.2    Norton, I.D.3    Butler, W.J.4    Roberts-Thomson, I.C.5
  • 83
    • 34250358719 scopus 로고    scopus 로고
    • Hemochromatosis gene mutations, liver function tests and iron status in alcohol-dependent patients admitted for detoxification
    • Robinson G., Narasimhan S., Weatherall M., and Beasley R. Hemochromatosis gene mutations, liver function tests and iron status in alcohol-dependent patients admitted for detoxification. J. Gastroenterol. Hepatol. 22 (2007) 852-854
    • (2007) J. Gastroenterol. Hepatol. , vol.22 , pp. 852-854
    • Robinson, G.1    Narasimhan, S.2    Weatherall, M.3    Beasley, R.4
  • 85
    • 33845864447 scopus 로고    scopus 로고
    • Effects of alcohol consumption on iron metabolism in mice with hemochromatosis mutations
    • Flanagan J.M., Peng H., and Beutler E. Effects of alcohol consumption on iron metabolism in mice with hemochromatosis mutations. Alcohol Clin. Exp. Res. 31 (2007) 138-143
    • (2007) Alcohol Clin. Exp. Res. , vol.31 , pp. 138-143
    • Flanagan, J.M.1    Peng, H.2    Beutler, E.3
  • 88
    • 34848838993 scopus 로고    scopus 로고
    • Iron-mediated regulation of liver hepcidin expression in rats and mice is abolished by alcohol
    • Harrison-Findik D.D., Klein E., Crist C., Evans J., Timchenko N., and Gollan J. Iron-mediated regulation of liver hepcidin expression in rats and mice is abolished by alcohol. Hepatology 46 (2007) 1979-1985
    • (2007) Hepatology , vol.46 , pp. 1979-1985
    • Harrison-Findik, D.D.1    Klein, E.2    Crist, C.3    Evans, J.4    Timchenko, N.5    Gollan, J.6
  • 91
    • 0031947715 scopus 로고    scopus 로고
    • Steatohepatitis: a tale of two "hits"?
    • Day C.P., and James O.F. Steatohepatitis: a tale of two "hits"?. Gastroenterology 114 (1998) 842-845
    • (1998) Gastroenterology , vol.114 , pp. 842-845
    • Day, C.P.1    James, O.F.2
  • 96
    • 0036211032 scopus 로고    scopus 로고
    • Effect of iron depletion in carbohydrate-intolerant patients with clinical evidence of nonalcoholic fatty liver disease
    • Facchini F.S., Hua N.W., and Stoohs R.A. Effect of iron depletion in carbohydrate-intolerant patients with clinical evidence of nonalcoholic fatty liver disease. Gastroenterology 122 (2002) 931-939
    • (2002) Gastroenterology , vol.122 , pp. 931-939
    • Facchini, F.S.1    Hua, N.W.2    Stoohs, R.A.3
  • 97
    • 34249098685 scopus 로고    scopus 로고
    • Iron depletion by phlebotomy improves insulin resistance in patients with nonalcoholic fatty liver disease and hyperferritinemia: evidence from a case-control study
    • Valenti L., Fracanzani A.L., Dongiovanni P., Bugianesi E., Marchesini G., Manzini P., Vanni E., and Fargion S. Iron depletion by phlebotomy improves insulin resistance in patients with nonalcoholic fatty liver disease and hyperferritinemia: evidence from a case-control study. Am. J. Gastroenterol. 102 (2007) 1251-1258
    • (2007) Am. J. Gastroenterol. , vol.102 , pp. 1251-1258
    • Valenti, L.1    Fracanzani, A.L.2    Dongiovanni, P.3    Bugianesi, E.4    Marchesini, G.5    Manzini, P.6    Vanni, E.7    Fargion, S.8
  • 98
    • 0033198317 scopus 로고    scopus 로고
    • Non-alcoholic steatohepatitis and iron: increased prevalence of mutations of the HFE gene in non-alcoholic steatohepatitis
    • Bonkovsky H.L., Jawaid Q., Tortorelli K., LeClair P., Cobb J., Lambrecht R.W., and Banner B.F. Non-alcoholic steatohepatitis and iron: increased prevalence of mutations of the HFE gene in non-alcoholic steatohepatitis. J. Hepatol. 31 (1999) 421-429
    • (1999) J. Hepatol. , vol.31 , pp. 421-429
    • Bonkovsky, H.L.1    Jawaid, Q.2    Tortorelli, K.3    LeClair, P.4    Cobb, J.5    Lambrecht, R.W.6    Banner, B.F.7
  • 104
    • 0032845303 scopus 로고    scopus 로고
    • Prevalence of the C282Y mutation of the hemochromatosis gene in liver transplant recipients and donors
    • Alanen K.W., Chakrabarti S., Rawlins J.J., Howson W., Jeffrey G., and Adams P.C. Prevalence of the C282Y mutation of the hemochromatosis gene in liver transplant recipients and donors. Hepatology 30 (1999) 665-669
    • (1999) Hepatology , vol.30 , pp. 665-669
    • Alanen, K.W.1    Chakrabarti, S.2    Rawlins, J.J.3    Howson, W.4    Jeffrey, G.5    Adams, P.C.6
  • 108
    • 0031968131 scopus 로고    scopus 로고
    • Onset of hepatocellular carcinoma in a non-cirrhotic patient affected with haemochromatosis
    • Tomao S., Romiti A., Mozzicafreddo A., Raffaele M., Zullo A., and Antonaci A. Onset of hepatocellular carcinoma in a non-cirrhotic patient affected with haemochromatosis. Oncol. Rep. 5 (1998) 723-725
    • (1998) Oncol. Rep. , vol.5 , pp. 723-725
    • Tomao, S.1    Romiti, A.2    Mozzicafreddo, A.3    Raffaele, M.4    Zullo, A.5    Antonaci, A.6
  • 109
    • 0032772802 scopus 로고    scopus 로고
    • Hepatocellular carcinoma arising in the absence of cirrhosis in genetic haemochromatosis: three case reports and review of literature
    • Goh J., Callagy G., McEntee G., O'Keane J.C., Bomford A., and Crowe J. Hepatocellular carcinoma arising in the absence of cirrhosis in genetic haemochromatosis: three case reports and review of literature. Eur. J. Gastroenterol. Hepatol. 11 (1999) 915-919
    • (1999) Eur. J. Gastroenterol. Hepatol. , vol.11 , pp. 915-919
    • Goh, J.1    Callagy, G.2    McEntee, G.3    O'Keane, J.C.4    Bomford, A.5    Crowe, J.6
  • 110
    • 0032778436 scopus 로고    scopus 로고
    • Hepatocellular carcinoma in a patient with hereditary hemochromatosis and noncirrhotic liver. A case report
    • Kohler H.H., Hohler T., Kusel U., Kirkpatrick C.J., and Schirmacher P. Hepatocellular carcinoma in a patient with hereditary hemochromatosis and noncirrhotic liver. A case report. Pathol. Res. Pract. 195 (1999) 509-513
    • (1999) Pathol. Res. Pract. , vol.195 , pp. 509-513
    • Kohler, H.H.1    Hohler, T.2    Kusel, U.3    Kirkpatrick, C.J.4    Schirmacher, P.5
  • 112
    • 29744444731 scopus 로고    scopus 로고
    • Iron-free neoplastic nodules and hepatocellular carcinoma without cirrhosis in Wistar rats fed a diet high in iron
    • Asare G.A., Paterson A.C., Kew M.C., Khan S., and Mossanda K.S. Iron-free neoplastic nodules and hepatocellular carcinoma without cirrhosis in Wistar rats fed a diet high in iron. J. Pathol. 208 (2006) 82-90
    • (2006) J. Pathol. , vol.208 , pp. 82-90
    • Asare, G.A.1    Paterson, A.C.2    Kew, M.C.3    Khan, S.4    Mossanda, K.S.5
  • 114
    • 0033663091 scopus 로고    scopus 로고
    • Interaction between haemochromatosis and transferrin receptor genes in hepatocellular carcinoma
    • Beckman L.E., Hagerstrand I., Stenling R., Van Landeghem G.F., and Beckman L. Interaction between haemochromatosis and transferrin receptor genes in hepatocellular carcinoma. Oncology 59 (2000) 317-322
    • (2000) Oncology , vol.59 , pp. 317-322
    • Beckman, L.E.1    Hagerstrand, I.2    Stenling, R.3    Van Landeghem, G.F.4    Beckman, L.5
  • 117
    • 0037961144 scopus 로고    scopus 로고
    • Lack of association between HFE gene mutations and hepatocellular carcinoma in patients with cirrhosis
    • Boige V., Castera L., de Roux N., Ganne-Carrie N., Ducot B., Pelletier G., Beaugrand M., and Buffet C. Lack of association between HFE gene mutations and hepatocellular carcinoma in patients with cirrhosis. Gut 52 (2003) 1178-1181
    • (2003) Gut , vol.52 , pp. 1178-1181
    • Boige, V.1    Castera, L.2    de Roux, N.3    Ganne-Carrie, N.4    Ducot, B.5    Pelletier, G.6    Beaugrand, M.7    Buffet, C.8
  • 120
    • 0017168895 scopus 로고
    • An inherited enzymatic defect in porphyria cutanea tarda: decreased uroporphyrinogen decarboxylase activity
    • Kushner J.P., Barbuto A.J., and Lee G.R. An inherited enzymatic defect in porphyria cutanea tarda: decreased uroporphyrinogen decarboxylase activity. J. Clin. Invest. 58 (1976) 1089-1097
    • (1976) J. Clin. Invest. , vol.58 , pp. 1089-1097
    • Kushner, J.P.1    Barbuto, A.J.2    Lee, G.R.3
  • 121
    • 0032231331 scopus 로고    scopus 로고
    • Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles
    • Mendez M., Sorkin L., Rossetti M.V., Astrin K.H., del C.B.A.M., Parera V.E., Aizencang G., and Desnick R.J. Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles. Am. J. Hum. Genet. 63 (1998) 1363-1375
    • (1998) Am. J. Hum. Genet. , vol.63 , pp. 1363-1375
    • Mendez, M.1    Sorkin, L.2    Rossetti, M.V.3    Astrin, K.H.4    del, C.B.A.M.5    Parera, V.E.6    Aizencang, G.7    Desnick, R.J.8
  • 122
    • 23444455257 scopus 로고    scopus 로고
    • Porphyria cutanea tarda in a Swedish population: risk factors and complications
    • Rossmann-Ringdahl I., and Olsson R. Porphyria cutanea tarda in a Swedish population: risk factors and complications. Acta Derm. Venereol. 85 (2005) 337-341
    • (2005) Acta Derm. Venereol. , vol.85 , pp. 337-341
    • Rossmann-Ringdahl, I.1    Olsson, R.2
  • 123
    • 24944537999 scopus 로고    scopus 로고
    • The role of inherited and acquired factors in the development of porphyria cutanea tarda in the Argentinean population
    • Mendez M., Rossetti M.V., Del C.B.A.M., and Parera V.E. The role of inherited and acquired factors in the development of porphyria cutanea tarda in the Argentinean population. J. Am. Acad. Dermatol. 52 (2005) 417-424
    • (2005) J. Am. Acad. Dermatol. , vol.52 , pp. 417-424
    • Mendez, M.1    Rossetti, M.V.2    Del, C.B.A.M.3    Parera, V.E.4
  • 124
    • 0015613161 scopus 로고
    • Iron metabolism in porphyria cutanea tarda and in erythropoietic protoporphyria
    • Turnbull A., Baker H., Vernon-Roberts B., and Magnus I.A. Iron metabolism in porphyria cutanea tarda and in erythropoietic protoporphyria. Q. J. Med. 42 (1973) 341-355
    • (1973) Q. J. Med. , vol.42 , pp. 341-355
    • Turnbull, A.1    Baker, H.2    Vernon-Roberts, B.3    Magnus, I.A.4
  • 125
    • 0014412185 scopus 로고
    • Porphyria cutanea tarda. A study of the effect of phlebotomy
    • Epstein J.H., and Redeker A.G. Porphyria cutanea tarda. A study of the effect of phlebotomy. N. Engl. J. Med. 279 (1968) 1301-1304
    • (1968) N. Engl. J. Med. , vol.279 , pp. 1301-1304
    • Epstein, J.H.1    Redeker, A.G.2
  • 126
    • 0015971980 scopus 로고
    • The treatment of porphyria cutanea tarda by venesection
    • Ramsay C.A., Magnus I.A., Turnbull A., and Baker H. The treatment of porphyria cutanea tarda by venesection. Q. J. Med. 43 (1974) 1-24
    • (1974) Q. J. Med. , vol.43 , pp. 1-24
    • Ramsay, C.A.1    Magnus, I.A.2    Turnbull, A.3    Baker, H.4
  • 127
    • 0021949290 scopus 로고
    • Heterozygosity for HLA-linked hemochromatosis as a likely cause of the hepatic siderosis associated with sporadic porphyria cutanea tarda
    • Kushner J.P., Edwards C.Q., Dadone M.M., and Skolnick M.H. Heterozygosity for HLA-linked hemochromatosis as a likely cause of the hepatic siderosis associated with sporadic porphyria cutanea tarda. Gastroenterology 88 (1985) 1232-1238
    • (1985) Gastroenterology , vol.88 , pp. 1232-1238
    • Kushner, J.P.1    Edwards, C.Q.2    Dadone, M.M.3    Skolnick, M.H.4
  • 128
    • 0031016791 scopus 로고    scopus 로고
    • Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda
    • Roberts A.G., Whatley S.D., Morgan R.R., Worwood M., and Elder G.H. Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda. Lancet 349 (1997) 321-323
    • (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
  • 129
    • 0032030738 scopus 로고    scopus 로고
    • The C282Y mutation in the haemochromatosis gene (HFE) and hepatitis C virus infection are independent cofactors for porphyria cutanea tarda in Australian patients
    • Stuart K.A., Busfield F., Jazwinska E.C., Gibson P., Butterworth L.A., Cooksley W.G., Powell L.W., and Crawford D.H.G. The C282Y mutation in the haemochromatosis gene (HFE) and hepatitis C virus infection are independent cofactors for porphyria cutanea tarda in Australian patients. J. Hepatol. 28 (1998) 404-409
    • (1998) J. Hepatol. , vol.28 , pp. 404-409
    • Stuart, K.A.1    Busfield, F.2    Jazwinska, E.C.3    Gibson, P.4    Butterworth, L.A.5    Cooksley, W.G.6    Powell, L.W.7    Crawford, D.H.G.8
  • 130
    • 0030956314 scopus 로고    scopus 로고
    • Mutations of the hereditary hemochromatosis candidate gene HLA-H in porphyria cutanea tarda
    • Santos M., Clevers H.C., and Marx J.J. Mutations of the hereditary hemochromatosis candidate gene HLA-H in porphyria cutanea tarda. N. Engl. J. Med. 336 (1997) 1327-1328
    • (1997) N. Engl. J. Med. , vol.336 , pp. 1327-1328
    • Santos, M.1    Clevers, H.C.2    Marx, J.J.3
  • 134
    • 0035087466 scopus 로고    scopus 로고
    • HFE mutations and transferrin receptor polymorphism analysis in porphyria cutanea tarda: a prospective study of 36 cases from southern France
    • Dereure O., Aguilar-Martinez P., Bessis D., Perney P., Vallat C., Guillot B., Blanc F., and Guilhou J.J. HFE mutations and transferrin receptor polymorphism analysis in porphyria cutanea tarda: a prospective study of 36 cases from southern France. Br. J. Dermatol. 144 (2001) 533-539
    • (2001) Br. J. Dermatol. , vol.144 , pp. 533-539
    • Dereure, O.1    Aguilar-Martinez, P.2    Bessis, D.3    Perney, P.4    Vallat, C.5    Guillot, B.6    Blanc, F.7    Guilhou, J.J.8
  • 138
    • 0037250325 scopus 로고    scopus 로고
    • Porphyria cutanea tarda, C282Y, H63D and S65C HFE gene mutations and hepatitis C infection: a study from southern France
    • Chiaverini C., Halimi G., Ouzan D., Halfon P., Ortonne J.P., and Lacour J.P. Porphyria cutanea tarda, C282Y, H63D and S65C HFE gene mutations and hepatitis C infection: a study from southern France. Dermatology 206 (2003) 212-216
    • (2003) Dermatology , vol.206 , pp. 212-216
    • Chiaverini, C.1    Halimi, G.2    Ouzan, D.3    Halfon, P.4    Ortonne, J.P.5    Lacour, J.P.6
  • 142
    • 33750378211 scopus 로고    scopus 로고
    • The prevalence of HFE C282Y gene mutation is increased in Spanish patients with porphyria cutanea tarda without hepatitis C virus infection
    • Toll A., Celis R., Ozalla M.D., Bruguera M., Herrero C., and Ercilla M.G. The prevalence of HFE C282Y gene mutation is increased in Spanish patients with porphyria cutanea tarda without hepatitis C virus infection. J. Eur. Acad. Dermatol. Venereol. 20 (2006) 1201-1206
    • (2006) J. Eur. Acad. Dermatol. Venereol. , vol.20 , pp. 1201-1206
    • Toll, A.1    Celis, R.2    Ozalla, M.D.3    Bruguera, M.4    Herrero, C.5    Ercilla, M.G.6
  • 147
    • 0036787525 scopus 로고    scopus 로고
    • Uroporphyria in the uroporphyrinogen decarboxylase-deficient mouse: interplay with siderosis and polychlorinated biphenyl exposure
    • Franklin M.R., Phillips J.D., and Kushner J.P. Uroporphyria in the uroporphyrinogen decarboxylase-deficient mouse: interplay with siderosis and polychlorinated biphenyl exposure. Hepatology 36 (2002) 805-811
    • (2002) Hepatology , vol.36 , pp. 805-811
    • Franklin, M.R.1    Phillips, J.D.2    Kushner, J.P.3


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