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Volumn 39, Issue 2, 2012, Pages 110-113

Factor H and CFHR1 polymorphisms associated with atypical Haemolytic Uraemic Syndrome (aHUS) are differently expressed in Tunisian and in Caucasian populations

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT FACTOR H; COMPLEMENT FACTOR H RELATED PROTEIN 1; UNCLASSIFIED DRUG;

EID: 84858069285     PISSN: 17443121     EISSN: 1744313X     Source Type: Journal    
DOI: 10.1111/j.1744-313X.2011.01071.x     Document Type: Article
Times cited : (11)

References (19)
  • 1
    • 76949087440 scopus 로고    scopus 로고
    • Characterization of complement factor H-related (CFHR) proteins in plasma reveals novel genetic variations of CFHR1 associated with atypical Hemolytic Uremic Syndrome
    • Abarrategui-Garrido, C., Martínez-Barricarte, R., López-Trascasa, M., Rodríguez de Córdoba, S. & Sánchez-Corral, P. (2009) Characterization of complement factor H-related (CFHR) proteins in plasma reveals novel genetic variations of CFHR1 associated with atypical Hemolytic Uremic Syndrome. Blood, 114, 4261.
    • (2009) Blood , vol.114 , pp. 4261
    • Abarrategui-Garrido, C.1    Martínez-Barricarte, R.2    López-Trascasa, M.3    Rodríguez de Córdoba, S.4    Sánchez-Corral, P.5
  • 2
    • 0242601270 scopus 로고    scopus 로고
    • Complement factor H mutations and gene polymorphisms in Hemolytic Uremic Syndrome: the c-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease
    • Caprioli, J., Castelletti, F., Bucchioni, S., Bettinaglio, P., Bresin, E., Pianetti, G. et al. (2003) Complement factor H mutations and gene polymorphisms in Hemolytic Uremic Syndrome: the c-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease. Human Molecular Genetics, 12, 3385.
    • (2003) Human Molecular Genetics , vol.12 , pp. 3385
    • Caprioli, J.1    Castelletti, F.2    Bucchioni, S.3    Bettinaglio, P.4    Bresin, E.5    Pianetti, G.6
  • 7
    • 26944480588 scopus 로고    scopus 로고
    • The development of atypical Haemolytic-Uraemic Syndrome is influenced by susceptibility factors in factor H and membrane cofactor protein: evidence from two independent cohorts
    • Frémeaux-Bacchi, V., Kemp, E.J., Goodship, J.A., Dragon-Durey, M.A., Strain, L., Loirat, C., Deng, H.W. & Goodship, T.H. (2005) The development of atypical Haemolytic-Uraemic Syndrome is influenced by susceptibility factors in factor H and membrane cofactor protein: evidence from two independent cohorts. Journal of Medical Genetics, 42, 852.
    • (2005) Journal of Medical Genetics , vol.42 , pp. 852
    • Frémeaux-Bacchi, V.1    Kemp, E.J.2    Goodship, J.A.3    Dragon-Durey, M.A.4    Strain, L.5    Loirat, C.6    Deng, H.W.7    Goodship, T.H.8
  • 8
    • 33847153137 scopus 로고    scopus 로고
    • Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular degeneration: characterization, ethnic distribution and evolutionary implications
    • Hageman, G.S., Hancox, L.S., Taiber, A.J., Gehrs, K.M., Anderson, D.H., Johnson, L.V. et al. (2006) Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular degeneration: characterization, ethnic distribution and evolutionary implications. Annals of Medicine, 38, 592.
    • (2006) Annals of Medicine , vol.38 , pp. 592
    • Hageman, G.S.1    Hancox, L.S.2    Taiber, A.J.3    Gehrs, K.M.4    Anderson, D.H.5    Johnson, L.V.6
  • 9
    • 0023665343 scopus 로고
    • A rapid method for the purification of DNA from blood
    • Jeanpierre, M. (1987) A rapid method for the purification of DNA from blood. Nucleic Acids Research, 15, 9611.
    • (1987) Nucleic Acids Research , vol.15 , pp. 9611
    • Jeanpierre, M.1
  • 10
    • 38949155911 scopus 로고    scopus 로고
    • Factor H autoantibodies in atypical Hemolytic Uremic Syndrome correlate with CFHR1/CFHR3 deficiency
    • Józsi, M., Licht, C., Strobel, S., Zipfel, S.L.H., Richter, H., Heinen, S., Zipfel, P.F. & Skerka, C. (2008) Factor H autoantibodies in atypical Hemolytic Uremic Syndrome correlate with CFHR1/CFHR3 deficiency. Blood, 111, 1512.
    • (2008) Blood , vol.111 , pp. 1512
    • Józsi, M.1    Licht, C.2    Strobel, S.3    Zipfel, S.L.H.4    Richter, H.5    Heinen, S.6    Zipfel, P.F.7    Skerka, C.8
  • 11
    • 0042329931 scopus 로고    scopus 로고
    • Haemolytic Uraemic Syndrome and mutations of the factor H gene: a registry-based study of German speaking countries
    • Neumann, H.P., Salzmann, M., Bohnert-Iwan, B., Mannuelian, T., Skerka, C., Lenk, D. et al. (2003) Haemolytic Uraemic Syndrome and mutations of the factor H gene: a registry-based study of German speaking countries. Journal of Medical Genetics, 40, 676.
    • (2003) Journal of Medical Genetics , vol.40 , pp. 676
    • Neumann, H.P.1    Salzmann, M.2    Bohnert-Iwan, B.3    Mannuelian, T.4    Skerka, C.5    Lenk, D.6
  • 12
    • 49049103992 scopus 로고    scopus 로고
    • Multiple Gene Polymorphisms in the Complement Factor H Gene Are Associated with Exudative Age-Related Macular Degeneration in Chinese
    • Ng, T.K., Chen, L.J., Liu, D.T., Tam, P.O., Chan, W.M., Liu, K. et al. (2008) Multiple Gene Polymorphisms in the Complement Factor H Gene Are Associated with Exudative Age-Related Macular Degeneration in Chinese. Investigative Ophthalmology and Visual Science, 49, 3312.
    • (2008) Investigative Ophthalmology and Visual Science , vol.49 , pp. 3312
    • Ng, T.K.1    Chen, L.J.2    Liu, D.T.3    Tam, P.O.4    Chan, W.M.5    Liu, K.6
  • 16
    • 36849084660 scopus 로고    scopus 로고
    • Translational mini-review series on complement factor H: genetics and disease associations of human complement factor H
    • Rodríguez de Córdoba, S. & Goicoechea de Jorge, E. (2008) Translational mini-review series on complement factor H: genetics and disease associations of human complement factor H. Clinical Experimental Immunology, 151, 1.
    • (2008) Clinical Experimental Immunology , vol.151 , pp. 1
    • Rodríguez de Córdoba, S.1    Goicoechea de Jorge, E.2
  • 17
    • 77955779512 scopus 로고    scopus 로고
    • Advances in understanding the aetiology of atypical Haemolytic Uraemic Syndrome
    • Sánchez-Corral, P. & Melgosa, M. (2010) Advances in understanding the aetiology of atypical Haemolytic Uraemic Syndrome. British Journal of Haematology, 150, 529.
    • (2010) British Journal of Haematology , vol.150 , pp. 529
    • Sánchez-Corral, P.1    Melgosa, M.2
  • 19
    • 34047200899 scopus 로고    scopus 로고
    • Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical Hemolytic Uremic Syndrome
    • Zipfel, P.F., Edey, M., Heinen, S., Józsi, M., Richter, H., Misselwitz, J. et al. (2007) Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical Hemolytic Uremic Syndrome. Public Library of Science Genetics, 3, 387.
    • (2007) Public Library of Science Genetics , vol.3 , pp. 387
    • Zipfel, P.F.1    Edey, M.2    Heinen, S.3    Józsi, M.4    Richter, H.5    Misselwitz, J.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.