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Relevance of complement factor H-related 1 (CFHR1) genotypes in age-related macular degeneration.
Martínez-Barricarte R, Recalde S, Fernández-Robredo P, Millán I, Olavarrieta L, Viñuela A, Pérez-Pérez J, García-Layana A, Rodríguez de Córdoba S; Spanish Multicenter Group on AMD. Martínez-Barricarte R, et al. Among authors: rodriguez de cordoba s. Invest Ophthalmol Vis Sci. 2012 Mar 1;53(3):1087-94. doi: 10.1167/iovs.11-8709. Invest Ophthalmol Vis Sci. 2012. PMID: 22247456 Free article.
Factor H Competitor Generated by Gene Conversion Events Associates with Atypical Hemolytic Uremic Syndrome.
Goicoechea de Jorge E, Tortajada A, García SP, Gastoldi S, Merinero HM, García-Fernández J, Arjona E, Cao M, Remuzzi G, Noris M, Rodríguez de Córdoba S. Goicoechea de Jorge E, et al. Among authors: rodriguez de cordoba s. J Am Soc Nephrol. 2018 Jan;29(1):240-249. doi: 10.1681/ASN.2017050518. Epub 2017 Oct 9. J Am Soc Nephrol. 2018. PMID: 28993505 Free PMC article.
C3 glomerulopathy-associated CFHR1 mutation alters FHR oligomerization and complement regulation.
Tortajada A, Yébenes H, Abarrategui-Garrido C, Anter J, García-Fernández JM, Martínez-Barricarte R, Alba-Domínguez M, Malik TH, Bedoya R, Cabrera Pérez R, López Trascasa M, Pickering MC, Harris CL, Sánchez-Corral P, Llorca O, Rodríguez de Córdoba S. Tortajada A, et al. Among authors: rodriguez de cordoba s. J Clin Invest. 2013 Jun;123(6):2434-46. doi: 10.1172/JCI68280. J Clin Invest. 2013. PMID: 23728178 Free PMC article.
A novel atypical hemolytic uremic syndrome-associated hybrid CFHR1/CFH gene encoding a fusion protein that antagonizes factor H-dependent complement regulation.
Valoti E, Alberti M, Tortajada A, Garcia-Fernandez J, Gastoldi S, Besso L, Bresin E, Remuzzi G, Rodriguez de Cordoba S, Noris M. Valoti E, et al. Among authors: rodriguez de cordoba s. J Am Soc Nephrol. 2015 Jan;26(1):209-19. doi: 10.1681/ASN.2013121339. Epub 2014 Jun 5. J Am Soc Nephrol. 2015. PMID: 24904082 Free PMC article.
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. Among authors: rodriguez de cordoba s. 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.
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.
192 results