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Atypical hemolytic uremic syndrome in the Tunisian population.
Leban N, Aloui S, Touati D, Lakhdhar R, Skhiri H, Lefranc G, Achour A, Elmay M, Lopez-Trascasa M, Sanchez-Corral P, Chibani J, Haj Khelil A. Leban N, et al. Int Urol Nephrol. 2011 Jun;43(2):559-64. doi: 10.1007/s11255-010-9754-3. Epub 2010 May 25. Int Urol Nephrol. 2011. PMID: 20499172
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. Hum Mutat. 2007 Mar;28(3):222-34. doi: 10.1002/humu.20435. Hum Mutat. 2007. PMID: 17089378
Complement factor H, FHR-3 and FHR-1 variants associate in an extended haplotype conferring increased risk of atypical hemolytic uremic syndrome.
Bernabéu-Herrero ME, Jiménez-Alcázar M, Anter J, Pinto S, Sánchez Chinchilla D, Garrido S, López-Trascasa M, Rodríguez de Córdoba S, Sánchez-Corral P. Bernabéu-Herrero ME, et al. Mol Immunol. 2015 Oct;67(2 Pt B):276-86. doi: 10.1016/j.molimm.2015.06.021. Epub 2015 Jul 7. Mol Immunol. 2015. PMID: 26163426
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.
63 results