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Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome.
Richards A, Kemp EJ, Liszewski MK, Goodship JA, Lampe AK, Decorte R, Müslümanoğlu MH, Kavukcu S, Filler G, Pirson Y, Wen LS, Atkinson JP, Goodship TH. Richards A, et al. Among authors: atkinson jp. Proc Natl Acad Sci U S A. 2003 Oct 28;100(22):12966-71. doi: 10.1073/pnas.2135497100. Epub 2003 Oct 17. Proc Natl Acad Sci U S A. 2003. PMID: 14566051 Free PMC article.
CD46: expanding beyond complement regulation.
Riley-Vargas RC, Gill DB, Kemper C, Liszewski MK, Atkinson JP. Riley-Vargas RC, et al. Among authors: atkinson jp. Trends Immunol. 2004 Sep;25(9):496-503. doi: 10.1016/j.it.2004.07.004. Trends Immunol. 2004. PMID: 15324743 Review.
Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome.
Caprioli J, Noris M, Brioschi S, Pianetti G, Castelletti F, Bettinaglio P, Mele C, Bresin E, Cassis L, Gamba S, Porrati F, Bucchioni S, Monteferrante G, Fang CJ, Liszewski MK, Kavanagh D, Atkinson JP, Remuzzi G; International Registry of Recurrent and Familial HUS/TTP. Caprioli J, et al. Among authors: atkinson jp. Blood. 2006 Aug 15;108(4):1267-79. doi: 10.1182/blood-2005-10-007252. Epub 2006 Apr 18. Blood. 2006. PMID: 16621965 Free PMC article. Clinical Trial.
Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome.
Fremeaux-Bacchi V, Moulton EA, Kavanagh D, Dragon-Durey MA, Blouin J, Caudy A, Arzouk N, Cleper R, Francois M, Guest G, Pourrat J, Seligman R, Fridman WH, Loirat C, Atkinson JP. Fremeaux-Bacchi V, et al. Among authors: atkinson jp. J Am Soc Nephrol. 2006 Jul;17(7):2017-25. doi: 10.1681/ASN.2005101051. Epub 2006 Jun 8. J Am Soc Nephrol. 2006. PMID: 16762990
427 results