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NPHP1 gene-associated nephronophthisis is associated with an occult retinopathy.
Birtel J, Spital G, Book M, Habbig S, Bäumner S, Riehmer V, Beck BB, Rosenkranz D, Bolz HJ, Dahmer-Heath M, Herrmann P, König J, Charbel Issa P. Birtel J, et al. Among authors: baumner s. Kidney Int. 2021 Nov;100(5):1092-1100. doi: 10.1016/j.kint.2021.06.012. Epub 2021 Jun 19. Kidney Int. 2021. PMID: 34153329
Polysialic acid is present in mammalian semen as a post-translational modification of the neural cell adhesion molecule NCAM and the polysialyltransferase ST8SiaII.
Simon P, Bäumner S, Busch O, Röhrich R, Kaese M, Richterich P, Wehrend A, Müller K, Gerardy-Schahn R, Mühlenhoff M, Geyer H, Geyer R, Middendorff R, Galuska SP. Simon P, et al. Among authors: baumner s. J Biol Chem. 2013 Jun 28;288(26):18825-33. doi: 10.1074/jbc.M113.451112. Epub 2013 May 13. J Biol Chem. 2013. PMID: 23671285 Free PMC article.