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Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis.
Gale DP, de Jorge EG, Cook HT, Martinez-Barricarte R, Hadjisavvas A, McLean AG, Pusey CD, Pierides A, Kyriacou K, Athanasiou Y, Voskarides K, Deltas C, Palmer A, Frémeaux-Bacchi V, de Cordoba SR, Maxwell PH, Pickering MC. Gale DP, et al. Lancet. 2010 Sep 4;376(9743):794-801. doi: 10.1016/S0140-6736(10)60670-8. Epub 2010 Aug 25. Lancet. 2010. PMID: 20800271 Free PMC article.
The complement factor H R1210C mutation is associated with atypical hemolytic uremic syndrome.
Martinez-Barricarte R, Pianetti G, Gautard R, Misselwitz J, Strain L, Fremeaux-Bacchi V, Skerka C, Zipfel PF, Goodship T, Noris M, Remuzzi G, de Cordoba SR; European Working Party on the Genetics of HUS. Martinez-Barricarte R, et al. J Am Soc Nephrol. 2008 Mar;19(3):639-46. doi: 10.1681/ASN.2007080923. Epub 2008 Jan 30. J Am Soc Nephrol. 2008. PMID: 18235085 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. J Clin Invest. 2013 Jun;123(6):2434-46. doi: 10.1172/JCI68280. J Clin Invest. 2013. PMID: 23728178 Free PMC article.
Unique structure of iC3b resolved at a resolution of 24 Å by 3D-electron microscopy.
Alcorlo M, Martínez-Barricarte R, Fernández FJ, Rodríguez-Gallego C, Round A, Vega MC, Harris CL, de Cordoba SR, Llorca O. Alcorlo M, et al. Proc Natl Acad Sci U S A. 2011 Aug 9;108(32):13236-40. doi: 10.1073/pnas.1106746108. Epub 2011 Jul 25. Proc Natl Acad Sci U S A. 2011. PMID: 21788512 Free PMC article.
Human C3 mutation reveals a mechanism of dense deposit disease pathogenesis and provides insights into complement activation and regulation.
Martínez-Barricarte R, Heurich M, Valdes-Cañedo F, Vazquez-Martul E, Torreira E, Montes T, Tortajada A, Pinto S, Lopez-Trascasa M, Morgan BP, Llorca O, Harris CL, Rodríguez de Córdoba S. Martínez-Barricarte R, et al. J Clin Invest. 2010 Oct;120(10):3702-12. doi: 10.1172/JCI43343. Epub 2010 Sep 13. J Clin Invest. 2010. PMID: 20852386 Free PMC article.
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. 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.
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