메뉴 건너뛰기




Volumn 46, Issue 4, 2011, Pages 302-307

Hereditary hemochromatosis: Mutations in genes involved in iron homeostasis in Brazilian patients

Author keywords

Hemochromatosis; HFE; Primary iron overload; Sequencing

Indexed keywords

GENOMIC DNA; TRANSFERRIN;

EID: 79953687361     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2011.02.008     Document Type: Article
Times cited : (44)

References (51)
  • 2
    • 67249111755 scopus 로고    scopus 로고
    • HFE-associated hereditary hemochromatosis
    • Alexander J., Kowdley K.V. HFE-associated hereditary hemochromatosis. Genet. Med. 2009, 11:307-313.
    • (2009) Genet. Med. , vol.11 , pp. 307-313
    • Alexander, J.1    Kowdley, K.V.2
  • 3
    • 33645112972 scopus 로고    scopus 로고
    • Molecular insights into the pathogenesis of hereditary haemochromatosis
    • Pietrangelo A. Molecular insights into the pathogenesis of hereditary haemochromatosis. Gut 2006, 55:564-568.
    • (2006) Gut , vol.55 , pp. 564-568
    • Pietrangelo, A.1
  • 4
    • 38849194144 scopus 로고    scopus 로고
    • An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr]): structural implications with respect to binding with transferrin receptor 1
    • Dupradeau F.Y., Pissard S., Coulhon M.P., Cadet E., Foulon K., Fourcade C., Goossens M., Case D.A., Rochette J. An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr]): structural implications with respect to binding with transferrin receptor 1. Hum. Mutat. 2008, 29:206.
    • (2008) Hum. Mutat. , vol.29 , pp. 206
    • Dupradeau, F.Y.1    Pissard, S.2    Coulhon, M.P.3    Cadet, E.4    Foulon, K.5    Fourcade, C.6    Goossens, M.7    Case, D.A.8    Rochette, J.9
  • 6
    • 33646899011 scopus 로고    scopus 로고
    • Hereditary hemochromatosis: genetic complexity and new diagnostic approaches
    • Swinkels D.W., Janssen M.C., Bergmans J., Marx J.J. Hereditary hemochromatosis: genetic complexity and new diagnostic approaches. Clin. Chem. 2006, 52:950-968.
    • (2006) Clin. Chem. , vol.52 , pp. 950-968
    • Swinkels, D.W.1    Janssen, M.C.2    Bergmans, J.3    Marx, J.J.4
  • 7
    • 1942469548 scopus 로고    scopus 로고
    • Synergy between the C2 allele of transferrin and the C282Y allele of the haemochromatosis gene (HFE) as risk factors for developing Alzheimer's disease
    • Robson K.J., Lehmann D.J., Wimhurst V.L., Livesey K.J., Combrinck M., Merryweather-Clarke A.T., Warden D.R., Smith A.D. Synergy between the C2 allele of transferrin and the C282Y allele of the haemochromatosis gene (HFE) as risk factors for developing Alzheimer's disease. J. Med. Genet. 2004, 41:261-265.
    • (2004) J. Med. Genet. , vol.41 , pp. 261-265
    • Robson, K.J.1    Lehmann, D.J.2    Wimhurst, V.L.3    Livesey, K.J.4    Combrinck, M.5    Merryweather-Clarke, A.T.6    Warden, D.R.7    Smith, A.D.8
  • 11
    • 70450214396 scopus 로고    scopus 로고
    • The role of hepcidin in iron metabolism
    • Nemeth E., Ganz T. The role of hepcidin in iron metabolism. Acta Haematol. 2009, 122:78-86.
    • (2009) Acta Haematol. , vol.122 , pp. 78-86
    • Nemeth, E.1    Ganz, T.2
  • 14
    • 2942619988 scopus 로고    scopus 로고
    • Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin
    • Lee P.L., Beutler E., Rao S.V., Barton J.C. Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin. Blood 2004, 103:4669-4671.
    • (2004) Blood , vol.103 , pp. 4669-4671
    • Lee, P.L.1    Beutler, E.2    Rao, S.V.3    Barton, J.C.4
  • 15
    • 1642367900 scopus 로고    scopus 로고
    • HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype
    • Jacolot S., Le Gac G., Scotet V., Quere I., Mura C., Ferec C. HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype. Blood 2004, 103:2835-2840.
    • (2004) Blood , vol.103 , pp. 2835-2840
    • Jacolot, S.1    Le Gac, G.2    Scotet, V.3    Quere, I.4    Mura, C.5    Ferec, C.6
  • 16
    • 27144543714 scopus 로고    scopus 로고
    • A Portuguese patient homozygous for the ≥25G>A mutation of the HAMP promoter shows evidence of steady-state transcription but fails to up-regulate hepcidin levels by iron
    • Porto G., Roetto A., Daraio F., Pinto J.P., Almeida S., Bacelar C., Nemeth E., Ganz T., Camaschella C. A Portuguese patient homozygous for the ≥25G>A mutation of the HAMP promoter shows evidence of steady-state transcription but fails to up-regulate hepcidin levels by iron. Blood 2005, 106:2922-2923.
    • (2005) Blood , vol.106 , pp. 2922-2923
    • Porto, G.1    Roetto, A.2    Daraio, F.3    Pinto, J.P.4    Almeida, S.5    Bacelar, C.6    Nemeth, E.7    Ganz, T.8    Camaschella, C.9
  • 19
    • 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., Subramaniam V.N. First phenotypic description of transferrin receptor 2 knockout mouse, and the role of hepcidin. Gut 2005, 54:980-986.
    • (2005) Gut , vol.54 , pp. 980-986
    • Wallace, D.F.1    Summerville, L.2    Lusby, P.E.3    Subramaniam, V.N.4
  • 21
    • 27844470641 scopus 로고    scopus 로고
    • A Japanese family with ferroportin disease caused by a novel mutation of SLC40A1 gene: hyperferritinemia associated with a relatively low transferrin saturation of iron
    • Koyama C., Wakusawa S., Hayashi H., Ueno T., Suzuki R., Yano M., Saito H., Okazaki T. A Japanese family with ferroportin disease caused by a novel mutation of SLC40A1 gene: hyperferritinemia associated with a relatively low transferrin saturation of iron. Intern. Med. 2005, 44:990-993.
    • (2005) Intern. Med. , vol.44 , pp. 990-993
    • Koyama, C.1    Wakusawa, S.2    Hayashi, H.3    Ueno, T.4    Suzuki, R.5    Yano, M.6    Saito, H.7    Okazaki, T.8
  • 23
    • 33749075204 scopus 로고    scopus 로고
    • Homozygous p.M172K mutation of the TFR2 gene in an Italian family with type 3 hereditary hemochromatosis and early onset iron overload
    • Majore S., Milano F., Binni F., Stuppia L., Cerrone A., Tafuri A., De Bernardo C., Palka G., Grammatico P. Homozygous p.M172K mutation of the TFR2 gene in an Italian family with type 3 hereditary hemochromatosis and early onset iron overload. Haematologica 2006, 91:ECR33-ECR.
    • (2006) Haematologica , vol.91
    • Majore, S.1    Milano, F.2    Binni, F.3    Stuppia, L.4    Cerrone, A.5    Tafuri, A.6    De Bernardo, C.7    Palka, G.8    Grammatico, P.9
  • 24
    • 0034733635 scopus 로고    scopus 로고
    • A novel mammalian iron-regulated protein involved in intracellular iron metabolism
    • Abboud S., Haile D.J. A novel mammalian iron-regulated protein involved in intracellular iron metabolism. J. Biol. Chem. 2000, 275:19906-19912.
    • (2000) J. Biol. Chem. , vol.275 , pp. 19906-19912
    • Abboud, S.1    Haile, D.J.2
  • 27
    • 0037860450 scopus 로고    scopus 로고
    • Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations
    • Hetet G., Devaux I., Soufir N., Grandchamp B., Beaumont C. Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations. Blood 2003, 102:1904-1910.
    • (2003) Blood , vol.102 , pp. 1904-1910
    • Hetet, G.1    Devaux, I.2    Soufir, N.3    Grandchamp, B.4    Beaumont, C.5
  • 29
    • 0031873791 scopus 로고    scopus 로고
    • Optimized procedure for DNA isolation from fresh and cryopreserved clotted human blood useful in clinical molecular testing
    • Salazar L.A., Hirata M.H., Cavalli S.A., Machado M.O., Hirata R.D. Optimized procedure for DNA isolation from fresh and cryopreserved clotted human blood useful in clinical molecular testing. Clin. Chem. 1998, 44:1748-1750.
    • (1998) Clin. Chem. , vol.44 , pp. 1748-1750
    • Salazar, L.A.1    Hirata, M.H.2    Cavalli, S.A.3    Machado, M.O.4    Hirata, R.D.5
  • 32
    • 0035049344 scopus 로고    scopus 로고
    • Mutation analysis of the transferrin receptor-2 gene in patients with iron overload
    • Lee P.L., Halloran C., West C., Beutler E. Mutation analysis of the transferrin receptor-2 gene in patients with iron overload. Blood Cells Mol. Dis. 2001, 27:285-289.
    • (2001) Blood Cells Mol. Dis. , vol.27 , pp. 285-289
    • Lee, P.L.1    Halloran, C.2    West, C.3    Beutler, E.4
  • 33
    • 78049479470 scopus 로고    scopus 로고
    • APOE polymorphism is associated with lipid profile, but not with arterial stiffness in the general population. Lipids Health Dis 9 128.
    • R.O. Alvim, S.R. Freitas, N.E. Ferreira, P.C. Santos, R.S. Cunha, J.G. Mill, J.E. Krieger, and A.C. Pereira, APOE polymorphism is associated with lipid profile, but not with arterial stiffness in the general population. Lipids Health Dis 9 128.
    • Alvim, R.O.1    Freitas, S.R.2    Ferreira, N.E.3    Santos, P.C.4    Cunha, R.S.5    Mill, J.G.6    Krieger, J.E.7    Pereira, A.C.8
  • 34
    • 78149306479 scopus 로고    scopus 로고
    • HJV hemochromatosis, iron overload, and hypogonadism in a brazilian man: treatment with phlebotomy and Deferasirox. Acta Haematol 124 204-205.
    • P.C. Santos, R.D. Cancado, A.C. Pereira, C.S. Chiattone, J.E. Krieger, and E.M. Guerra-Shinohara, HJV hemochromatosis, iron overload, and hypogonadism in a brazilian man: treatment with phlebotomy and Deferasirox. Acta Haematol 124 204-205.
    • Santos, P.C.1    Cancado, R.D.2    Pereira, A.C.3    Chiattone, C.S.4    Krieger, J.E.5    Guerra-Shinohara, E.M.6
  • 37
    • 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 A.M., Guyader D., Le Gall J.Y., Deugnier Y., David V. A genotypic study of 217 unrelated probands diagnosed as "genetic hemochromatosis" on "classical" phenotypic criteria. J. Hepatol. 1999, 30:588-593.
    • (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    David, V.7
  • 40
    • 11844266560 scopus 로고    scopus 로고
    • Analysis of HFE gene mutations (C282Y, H63D, and S65C) in the Ecuadorian population
    • Leone P.E., Gimenez P., Collantes J.C., Paz-y-Mino C. Analysis of HFE gene mutations (C282Y, H63D, and S65C) in the Ecuadorian population. Ann. Hematol. 2005, 84:103-105.
    • (2005) Ann. Hematol. , vol.84 , pp. 103-105
    • Leone, P.E.1    Gimenez, P.2    Collantes, J.C.3    Paz-y-Mino, C.4
  • 42
    • 1642480107 scopus 로고    scopus 로고
    • Absence of hemochromatosis associated Cys282Tyr HFE gene mutation and low frequency of hemochromatosis phenotype in nonalcoholic chronic liver disease patients in India
    • Thakur V., Guptan R.C., Hashmi A.Z., Sakhuja P., Malhotra V., Sarin S.K. Absence of hemochromatosis associated Cys282Tyr HFE gene mutation and low frequency of hemochromatosis phenotype in nonalcoholic chronic liver disease patients in India. J. Gastroenterol. Hepatol. 2004, 19:86-90.
    • (2004) J. Gastroenterol. Hepatol. , vol.19 , pp. 86-90
    • Thakur, V.1    Guptan, R.C.2    Hashmi, A.Z.3    Sakhuja, P.4    Malhotra, V.5    Sarin, S.K.6
  • 43
    • 0034610781 scopus 로고    scopus 로고
    • Crystal structure of the hereditary haemochromatosis protein HFE complexed with transferrin receptor
    • Bennett M.J., Lebron J.A., Bjorkman P.J. Crystal structure of the hereditary haemochromatosis protein HFE complexed with transferrin receptor. Nature 2000, 403:46-53.
    • (2000) Nature , vol.403 , pp. 46-53
    • Bennett, M.J.1    Lebron, J.A.2    Bjorkman, P.J.3
  • 45
    • 4544314123 scopus 로고    scopus 로고
    • The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype
    • Le Gac G., Scotet V., Ka C., Gourlaouen I., Bryckaert L., Jacolot S., Mura C., Ferec C. The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype. Hum. Mol. Genet. 2004, 13:1913-1918.
    • (2004) Hum. Mol. Genet. , vol.13 , pp. 1913-1918
    • Le Gac, G.1    Scotet, V.2    Ka, C.3    Gourlaouen, I.4    Bryckaert, L.5    Jacolot, S.6    Mura, C.7    Ferec, C.8
  • 47
    • 69249219364 scopus 로고    scopus 로고
    • Mutations in HAMP and HJV genes and their impact on expression of clinical hemochromatosis in a cohort of 100 Spanish patients homozygous for the C282Y mutation of HFE gene
    • Altes A., Bach V., Ruiz A., Esteve A., Felez J., Remacha A.F., Sarda M.P., Baiget M. Mutations in HAMP and HJV genes and their impact on expression of clinical hemochromatosis in a cohort of 100 Spanish patients homozygous for the C282Y mutation of HFE gene. Ann. Hematol. 2009, 88:951-955.
    • (2009) Ann. Hematol. , vol.88 , pp. 951-955
    • Altes, A.1    Bach, V.2    Ruiz, A.3    Esteve, A.4    Felez, J.5    Remacha, A.F.6    Sarda, M.P.7    Baiget, M.8
  • 51
    • 70449587089 scopus 로고    scopus 로고
    • HFE, SLC40A1, HAMP, HJV, TFR2, and FTL mutations detected by denaturing high-performance liquid chromatography after iron phenotyping and HFE C282Y and H63D genotyping in 785 HEIRS Study participants
    • Barton J.C., Lafreniere S.A., Leiendecker-Foster C., Li H., Acton R.T., Press R.D., Eckfeldt J.H. HFE, SLC40A1, HAMP, HJV, TFR2, and FTL mutations detected by denaturing high-performance liquid chromatography after iron phenotyping and HFE C282Y and H63D genotyping in 785 HEIRS Study participants. Am. J. Hematol. 2009, 84:710-714.
    • (2009) Am. J. Hematol. , vol.84 , pp. 710-714
    • Barton, J.C.1    Lafreniere, S.A.2    Leiendecker-Foster, C.3    Li, H.4    Acton, R.T.5    Press, R.D.6    Eckfeldt, J.H.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.