López-Trascasa M - Search Results

1

Structural and functional characterization of factor H mutations associated with atypical hemolytic uremic syndrome.

Sánchez-Corral P, Pérez-Caballero D, Huarte O, Simckes AM, Goicoechea E, López-Trascasa M, de Córdoba SR. Sánchez-Corral P, et al. Am J Hum Genet. 2002 Dec;71(6):1285-95. doi: 10.1086/344515. Epub 2002 Nov 6. Am J Hum Genet. 2002. PMID: 12424708 Free PMC article.

2

Mutations in proteins of the alternative pathway of complement and the pathogenesis of atypical hemolytic uremic syndrome.

Abarrategui-Garrido C, Melgosa M, Peña-Carrión A, de Jorge EG, de Córdoba SR, López-Trascasa M, Sánchez-Corral P. Abarrategui-Garrido C, et al. Am J Kidney Dis. 2008 Jul;52(1):171-80. doi: 10.1053/j.ajkd.2008.01.026. Epub 2008 Apr 18. Am J Kidney Dis. 2008. PMID: 18423815

3

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. 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.

4

Complement factor H variants I890 and L1007 while commonly associated with atypical hemolytic uremic syndrome are polymorphisms with no functional significance.

Tortajada A, Pinto S, Martínez-Ara J, López-Trascasa M, Sánchez-Corral P, de Córdoba SR. Tortajada A, et al. Kidney Int. 2012 Jan;81(1):56-63. doi: 10.1038/ki.2011.291. Epub 2011 Aug 31. Kidney Int. 2012. PMID: 21881555 Free article.

5

Complement mutations in diacylglycerol kinase-ε-associated atypical hemolytic uremic syndrome.

Sánchez Chinchilla D, Pinto S, Hoppe B, Adragna M, Lopez L, Justa Roldan ML, Peña A, Lopez Trascasa M, Sánchez-Corral P, Rodríguez de Córdoba S. Sánchez Chinchilla D, et al. Clin J Am Soc Nephrol. 2014 Sep 5;9(9):1611-9. doi: 10.2215/CJN.01640214. Epub 2014 Aug 18. Clin J Am Soc Nephrol. 2014. PMID: 25135762 Free PMC article.

6

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

7

Insights into hemolytic uremic syndrome: segregation of three independent predisposition factors in a large, multiple affected pedigree.

Esparza-Gordillo J, Jorge EG, Garrido CA, Carreras L, López-Trascasa M, Sánchez-Corral P, de Córdoba SR. Esparza-Gordillo J, et al. Mol Immunol. 2006 Apr;43(11):1769-75. doi: 10.1016/j.molimm.2005.11.008. Epub 2006 Jan 18. Mol Immunol. 2006. PMID: 16386793 Free article.

8

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.

9

Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome.

Pérez-Caballero D, González-Rubio C, Gallardo ME, Vera M, López-Trascasa M, Rodríguez de Córdoba S, Sánchez-Corral P. Pérez-Caballero D, et al. Am J Hum Genet. 2001 Feb;68(2):478-84. doi: 10.1086/318201. Epub 2001 Jan 17. Am J Hum Genet. 2001. PMID: 11170895 Free PMC article.

10

Functional analysis in serum from atypical Hemolytic Uremic Syndrome patients reveals impaired protection of host cells associated with mutations in factor H.

Sánchez-Corral P, González-Rubio C, Rodríguez de Córdoba S, López-Trascasa M. Sánchez-Corral P, et al. Mol Immunol. 2004 May;41(1):81-4. doi: 10.1016/j.molimm.2004.01.003. Mol Immunol. 2004. PMID: 15140578

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