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Volumn 39, Issue 2, 2007, Pages 206-211

SLC40A1 Q248H allele frequencies and Q248H-associated risk of non-HFE iron overload in persons of sub-Saharan African descent

Author keywords

Ferroportin; Genetics; Hemojuvelin A310G; Mutation

Indexed keywords

FERRITIN; FERROPORTIN 1;

EID: 34547425285     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2007.03.008     Document Type: Article
Times cited : (31)

References (45)
  • 1
    • 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
  • 2
    • 3042636759 scopus 로고    scopus 로고
    • The IL-6- and lipopolysaccharide-induced transcription of hepcidin in HFE-, transferrin receptor 2-, and beta 2-microglobulin-deficient hepatocytes
    • Lee P., Peng H., Gelbart T., and Beutler E. The IL-6- and lipopolysaccharide-induced transcription of hepcidin in HFE-, transferrin receptor 2-, and beta 2-microglobulin-deficient hepatocytes. Proc. Natl. Acad. Sci. U. S. A. 101 (2004) 9263-9265
    • (2004) Proc. Natl. Acad. Sci. U. S. A. , vol.101 , pp. 9263-9265
    • Lee, P.1    Peng, H.2    Gelbart, T.3    Beutler, E.4
  • 3
    • 33745898241 scopus 로고    scopus 로고
    • Bone morphogenetic proteins 2, 4, and 9 stimulate murine hepcidin 1 expression independently of Hfe, transferrin receptor 2 (Tfr2), and IL-6
    • Truksa J., Peng H., Lee P., and Beutler E. Bone morphogenetic proteins 2, 4, and 9 stimulate murine hepcidin 1 expression independently of Hfe, transferrin receptor 2 (Tfr2), and IL-6. Proc. Natl. Acad. Sci. U. S. A. 103 (2006) 10289-10293
    • (2006) Proc. Natl. Acad. Sci. U. S. A. , vol.103 , pp. 10289-10293
    • Truksa, J.1    Peng, H.2    Lee, P.3    Beutler, E.4
  • 7
    • 33644873239 scopus 로고    scopus 로고
    • Ferroportin (Q248H) mutations in African families with dietary iron overload
    • McNamara L., Gordeuk V.R., and MacPhail A.P. Ferroportin (Q248H) mutations in African families with dietary iron overload. J. Gastroenterol. Hepatol. 20 (2005) 1855-1858
    • (2005) J. Gastroenterol. Hepatol. , vol.20 , pp. 1855-1858
    • McNamara, L.1    Gordeuk, V.R.2    MacPhail, A.P.3
  • 9
    • 0037100382 scopus 로고    scopus 로고
    • Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3)
    • Devalia V., Carter K., Walker A.P., Perkins S.J., Worwood M., May A., and Dooley J.S. Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3). Blood 100 (2002) 695-697
    • (2002) Blood , vol.100 , pp. 695-697
    • Devalia, V.1    Carter, K.2    Walker, A.P.3    Perkins, S.J.4    Worwood, M.5    May, A.6    Dooley, J.S.7
  • 13
    • 28444436913 scopus 로고    scopus 로고
    • Non-HFE hemochromatosis
    • Pietrangelo A. Non-HFE hemochromatosis. Semin. Liver Dis. 25 (2005) 450-460
    • (2005) Semin. Liver Dis. , vol.25 , pp. 450-460
    • Pietrangelo, A.1
  • 18
    • 0035746537 scopus 로고    scopus 로고
    • Inheritance of two HFE mutations in African Americans: cases with hemochromatosis phenotypes and estimates of hemochromatosis phenotype frequency
    • Barton J.C., and Acton R.T. Inheritance of two HFE mutations in African Americans: cases with hemochromatosis phenotypes and estimates of hemochromatosis phenotype frequency. Genet. Med. 3 (2001) 294-300
    • (2001) Genet. Med. , vol.3 , pp. 294-300
    • Barton, J.C.1    Acton, R.T.2
  • 22
    • 0034609577 scopus 로고    scopus 로고
    • The effect of HFE genotypes on measurements of iron overload in patients attending a health appraisal clinic
    • Beutler E., Felitti V., Gelbart T., and Ho N. The effect of HFE genotypes on measurements of iron overload in patients attending a health appraisal clinic. Ann. Intern. Med. 133 (2000) 329-337
    • (2000) Ann. Intern. Med. , vol.133 , pp. 329-337
    • Beutler, E.1    Felitti, V.2    Gelbart, T.3    Ho, N.4
  • 24
    • 0033404970 scopus 로고    scopus 로고
    • Evidence from a Ghanaian population of known African descent to support the proposition that hemochromatosis is a Caucasian disorder
    • Jeffery S., Crosby A., Plange-Rhule J., Amoah-Danquah J., Acheampong J.W., Eastwood J.B., and Malik A.K. Evidence from a Ghanaian population of known African descent to support the proposition that hemochromatosis is a Caucasian disorder. Genet. Test. 3 (1999) 375-377
    • (1999) Genet. Test. , vol.3 , pp. 375-377
    • Jeffery, S.1    Crosby, A.2    Plange-Rhule, J.3    Amoah-Danquah, J.4    Acheampong, J.W.5    Eastwood, J.B.6    Malik, A.K.7
  • 26
    • 0031687548 scopus 로고    scopus 로고
    • Is there a link between African iron overload and the described mutations of the hereditary haemochromatosis gene?
    • McNamara L., MacPhail A.P., Gordeuk V.R., Hasstedt S.J., and Rouault T. Is there a link between African iron overload and the described mutations of the hereditary haemochromatosis gene?. Br. J. Haematol. 102 (1998) 1176-1178
    • (1998) Br. J. Haematol. , vol.102 , pp. 1176-1178
    • McNamara, L.1    MacPhail, A.P.2    Gordeuk, V.R.3    Hasstedt, S.J.4    Rouault, T.5
  • 28
    • 5644235082 scopus 로고    scopus 로고
    • Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset haemochromatosis
    • Lee P.L., Barton J.C., Brandhagen D., and Beutler E. Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset haemochromatosis. Br. J. Haematol. 127 (2004) 224-229
    • (2004) Br. J. Haematol. , vol.127 , pp. 224-229
    • Lee, P.L.1    Barton, J.C.2    Brandhagen, D.3    Beutler, E.4
  • 31
    • 34547436100 scopus 로고    scopus 로고
    • UniGene. Organized view of the transcriptome. National Center for Biotechnology Information. 2007. National Institutes of Health.
  • 33
    • 40849090870 scopus 로고    scopus 로고
    • Open source epidemiologic statistics for public health (computer software)
    • Department of Epidemiology, Emory University, Atlanta, GA
    • Dean A., Sullivan K., and Soe M.M. Open source epidemiologic statistics for public health (computer software). Open Source Epidemiologic Statistics for Public Health (2005), Department of Epidemiology, Emory University, Atlanta, GA
    • (2005) Open Source Epidemiologic Statistics for Public Health
    • Dean, A.1    Sullivan, K.2    Soe, M.M.3
  • 34
    • 0027295297 scopus 로고
    • Comparison of HLA phenotypes among African Americans from Alabama. Maryland, and North Carolina
    • Acton R.T., Harman L., Go R.C., Tseng M.L., and Bias W. Comparison of HLA phenotypes among African Americans from Alabama. Maryland, and North Carolina. Transplant. Proc. 25 (1993) 2404-2407
    • (1993) Transplant. Proc. , vol.25 , pp. 2404-2407
    • Acton, R.T.1    Harman, L.2    Go, R.C.3    Tseng, M.L.4    Bias, W.5
  • 36
    • 0004155365 scopus 로고    scopus 로고
    • Simon & Schuster, New York
    • Thomas H. The Slave Trade (1997), Simon & Schuster, New York
    • (1997) The Slave Trade
    • Thomas, H.1
  • 40
    • 18844415104 scopus 로고    scopus 로고
    • Iron overload in an African American woman with SS hemoglobinopathy and a promoter mutation in the X-linked erythroid-specific 5-aminolevulinate synthase (ALAS2) gene
    • Barton J.C., Lee P.L., Bertoli L.F., and Beutler E. Iron overload in an African American woman with SS hemoglobinopathy and a promoter mutation in the X-linked erythroid-specific 5-aminolevulinate synthase (ALAS2) gene. Blood Cells Mol. Diseases 34 (2005) 226-228
    • (2005) Blood Cells Mol. Diseases , vol.34 , pp. 226-228
    • Barton, J.C.1    Lee, P.L.2    Bertoli, L.F.3    Beutler, E.4
  • 41
    • 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., and Barton J.C. Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin. Blood 103 (2004) 4669-4671
    • (2004) Blood , vol.103 , pp. 4669-4671
    • Lee, P.L.1    Beutler, E.2    Rao, S.V.3    Barton, J.C.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.