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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: lopez trascasa m. Hum Mutat. 2007 Mar;28(3):222-34. doi: 10.1002/humu.20435. Hum Mutat. 2007. PMID: 17089378
Characterization of complement factor H-related (CFHR) proteins in plasma reveals novel genetic variations of CFHR1 associated with atypical hemolytic uremic syndrome.
Abarrategui-Garrido C, Martínez-Barricarte R, López-Trascasa M, de Córdoba SR, Sánchez-Corral P. Abarrategui-Garrido C, et al. Among authors: lopez trascasa m. Blood. 2009 Nov 5;114(19):4261-71. doi: 10.1182/blood-2009-05-223834. Epub 2009 Sep 10. Blood. 2009. PMID: 19745068 Free article.
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. Among authors: lopez trascasa m. 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 molecular and structural bases for the association of complement C3 mutations with atypical hemolytic uremic syndrome.
Martínez-Barricarte R, Heurich M, López-Perrote A, Tortajada A, Pinto S, López-Trascasa M, Sánchez-Corral P, Morgan BP, Llorca O, Harris CL, Rodríguez de Córdoba S. Martínez-Barricarte R, et al. Among authors: lopez perrote a, lopez trascasa m. Mol Immunol. 2015 Aug;66(2):263-73. doi: 10.1016/j.molimm.2015.03.248. Epub 2015 Apr 11. Mol Immunol. 2015. PMID: 25879158 Free PMC article.
Case Report: Combined Liver-Kidney Transplantation to Correct a Mutation in Complement Factor B in an Atypical Hemolytic Uremic Syndrome Patient.
López-Trascasa M, Alonso-Melgar Á, Melgosa-Hijosa M, Espinosa-Román L, Lledín-Barbancho MD, García-Fernández E, Rodríguez de Córdoba S, Sánchez-Corral P. López-Trascasa M, et al. Front Immunol. 2021 Oct 14;12:751093. doi: 10.3389/fimmu.2021.751093. eCollection 2021. Front Immunol. 2021. PMID: 34721423 Free PMC article.
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: lopez trascasa m. 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. Among authors: lopez trascasa m. 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.
142 results