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The interactive Factor H-atypical hemolytic uremic syndrome mutation database and website: update and integration of membrane cofactor protein and Factor I mutations with structural models.
Saunders RE, Abarrategui-Garrido C, Frémeaux-Bacchi V, Goicoechea de Jorge E, Goodship TH, López Trascasa M, Noris M, Ponce Castro IM, Remuzzi G, Rodríguez de Córdoba S, Sánchez-Corral P, Skerka C, Zipfel PF, Perkins SJ. Saunders RE, et al. Among authors: goicoechea de jorge e. Hum Mutat. 2007 Mar;28(3):222-34. doi: 10.1002/humu.20435. Hum Mutat. 2007. PMID: 17089378
Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32.
Esparza-Gordillo J, Goicoechea de Jorge E, Buil A, Carreras Berges L, López-Trascasa M, Sánchez-Corral P, Rodríguez de Córdoba S. Esparza-Gordillo J, et al. Among authors: goicoechea de jorge e. Hum Mol Genet. 2005 Mar 1;14(5):703-12. doi: 10.1093/hmg/ddi066. Epub 2005 Jan 20. Hum Mol Genet. 2005. PMID: 15661753
Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome.
Goicoechea de Jorge E, Harris CL, Esparza-Gordillo J, Carreras L, Arranz EA, Garrido CA, López-Trascasa M, Sánchez-Corral P, Morgan BP, Rodríguez de Córdoba S. Goicoechea de Jorge E, et al. Proc Natl Acad Sci U S A. 2007 Jan 2;104(1):240-5. doi: 10.1073/pnas.0603420103. Epub 2006 Dec 20. Proc Natl Acad Sci U S A. 2007. PMID: 17182750 Free PMC article.
Acute presentation and persistent glomerulonephritis following streptococcal infection in a patient with heterozygous complement factor H-related protein 5 deficiency.
Vernon KA, Goicoechea de Jorge E, Hall AE, Fremeaux-Bacchi V, Aitman TJ, Cook HT, Hangartner R, Koziell A, Pickering MC. Vernon KA, et al. Among authors: goicoechea de jorge e. Am J Kidney Dis. 2012 Jul;60(1):121-5. doi: 10.1053/j.ajkd.2012.02.329. Epub 2012 Apr 13. Am J Kidney Dis. 2012. PMID: 22503529 Free PMC article.
C3 glomerulopathy: consensus report.
Pickering MC, D'Agati VD, Nester CM, Smith RJ, Haas M, Appel GB, Alpers CE, Bajema IM, Bedrosian C, Braun M, Doyle M, Fakhouri F, Fervenza FC, Fogo AB, Frémeaux-Bacchi V, Gale DP, Goicoechea de Jorge E, Griffin G, Harris CL, Holers VM, Johnson S, Lavin PJ, Medjeral-Thomas N, Paul Morgan B, Nast CC, Noel LH, Peters DK, Rodríguez de Córdoba S, Servais A, Sethi S, Song WC, Tamburini P, Thurman JM, Zavros M, Cook HT. Pickering MC, et al. Among authors: goicoechea de jorge e. Kidney Int. 2013 Dec;84(6):1079-89. doi: 10.1038/ki.2013.377. Epub 2013 Oct 30. Kidney Int. 2013. PMID: 24172683 Free PMC article.
Factor H-related proteins determine complement-activating surfaces.
Józsi M, Tortajada A, Uzonyi B, Goicoechea de Jorge E, Rodríguez de Córdoba S. Józsi M, et al. Among authors: goicoechea de jorge e. Trends Immunol. 2015 Jun;36(6):374-84. doi: 10.1016/j.it.2015.04.008. Epub 2015 May 13. Trends Immunol. 2015. PMID: 25979655 Review.
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