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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.
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. 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 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. 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.
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
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. Among authors: sanchez corral p. Front Immunol. 2021 Oct 14;12:751093. doi: 10.3389/fimmu.2021.751093. eCollection 2021. Front Immunol. 2021. PMID: 34721423 Free PMC article.
63 results