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C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.
Richards A, van den Maagdenberg AM, Jen JC, Kavanagh D, Bertram P, Spitzer D, Liszewski MK, Barilla-Labarca ML, Terwindt GM, Kasai Y, McLellan M, Grand MG, Vanmolkot KR, de Vries B, Wan J, Kane MJ, Mamsa H, Schäfer R, Stam AH, Haan J, de Jong PT, Storimans CW, van Schooneveld MJ, Oosterhuis JA, Gschwendter A, Dichgans M, Kotschet KE, Hodgkinson S, Hardy TA, Delatycki MB, Hajj-Ali RA, Kothari PH, Nelson SF, Frants RR, Baloh RW, Ferrari MD, Atkinson JP. Richards A, et al. Among authors: bertram p. Nat Genet. 2007 Sep;39(9):1068-70. doi: 10.1038/ng2082. Epub 2007 Jul 29. Nat Genet. 2007. PMID: 17660820
Autoantibodies to CD59, CD55, CD46 or CD35 are not associated with atypical haemolytic uraemic syndrome (aHUS).
Watson R, Wearmouth E, McLoughlin AC, Jackson A, Ward S, Bertram P, Bennaceur K, Barker CE, Pappworth IY, Kavanagh D, Lea SM, Atkinson JP, Goodship TH, Marchbank KJ. Watson R, et al. Among authors: bertram p. Mol Immunol. 2015 Feb;63(2):287-96. doi: 10.1016/j.molimm.2014.07.017. Epub 2014 Aug 21. Mol Immunol. 2015. PMID: 25150608 Free PMC article.
96 results