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Page 1
Common and rare genetic variants of complement components in human disease.
Goicoechea de Jorge E, López Lera A, Bayarri-Olmos R, Yebenes H, Lopez-Trascasa M, Rodríguez de Córdoba S. Goicoechea de Jorge E, et al. Mol Immunol. 2018 Oct;102:42-57. doi: 10.1016/j.molimm.2018.06.011. Epub 2018 Jun 18. Mol Immunol. 2018. PMID: 29914697 Free article. Review.
Molecular analyses of the HGO gene mutations in Turkish alkaptonuria patients suggest that the R58fs mutation originated from central Asia and was spread throughout Europe and Anatolia by human migrations.
Uyguner O, Goicoechea de Jorge E, Cefle A, Baykal T, Kayserili H, Cefle K, Demirkol M, Yuksel-Apak M, Rodriguez de Córdoba S, Wollnik B. Uyguner O, et al. Among authors: goicoechea de jorge e. J Inherit Metab Dis. 2003;26(1):17-23. doi: 10.1023/a:1024063126954. J Inherit Metab Dis. 2003. PMID: 12872836 Clinical Trial.
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
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
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.
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.
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