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Page 1
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: kemp ej. 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.
The development of atypical haemolytic-uraemic syndrome is influenced by susceptibility factors in factor H and membrane cofactor protein: evidence from two independent cohorts.
Fremeaux-Bacchi V, Kemp EJ, Goodship JA, Dragon-Durey MA, Strain L, Loirat C, Deng HW, Goodship TH. Fremeaux-Bacchi V, et al. Among authors: kemp ej. J Med Genet. 2005 Nov;42(11):852-6. doi: 10.1136/jmg.2005.030783. Epub 2005 Mar 22. J Med Genet. 2005. PMID: 15784724 Free PMC article.
De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome.
Heinen S, Sanchez-Corral P, Jackson MS, Strain L, Goodship JA, Kemp EJ, Skerka C, Jokiranta TS, Meyers K, Wagner E, Robitaille P, Esparza-Gordillo J, Rodriguez de Cordoba S, Zipfel PF, Goodship TH. Heinen S, et al. Among authors: kemp ej. Hum Mutat. 2006 Mar;27(3):292-3. doi: 10.1002/humu.9408. Hum Mutat. 2006. PMID: 16470555