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A mouse model for intellectual disability caused by mutations in the X-linked 2'‑O‑methyltransferase Ftsj1 gene.
Jensen LR, Garrett L, Hölter SM, Rathkolb B, Rácz I, Adler T, Prehn C, Hans W, Rozman J, Becker L, Aguilar-Pimentel JA, Puk O, Moreth K, Dopatka M, Walther DJ, von Bohlen Und Halbach V, Rath M, Delatycki M, Bert B, Fink H, Blümlein K, Ralser M, Van Dijck A, Kooy F, Stark Z, Müller S, Scherthan H, Gecz J, Wurst W, Wolf E, Zimmer A, Klingenspor M, Graw J, Klopstock T, Busch D, Adamski J, Fuchs H, Gailus-Durner V, de Angelis MH, von Bohlen Und Halbach O, Ropers HH, Kuss AW. Jensen LR, et al. Among authors: scherthan h. Biochim Biophys Acta Mol Basis Dis. 2019 Sep 1;1865(9):2083-2093. doi: 10.1016/j.bbadis.2018.12.011. Epub 2018 Dec 14. Biochim Biophys Acta Mol Basis Dis. 2019. PMID: 30557699 Free article.
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation.
Kalscheuer VM, Freude K, Musante L, Jensen LR, Yntema HG, Gécz J, Sefiani A, Hoffmann K, Moser B, Haas S, Gurok U, Haesler S, Aranda B, Nshedjan A, Tzschach A, Hartmann N, Roloff TC, Shoichet S, Hagens O, Tao J, Van Bokhoven H, Turner G, Chelly J, Moraine C, Fryns JP, Nuber U, Hoeltzenbein M, Scharff C, Scherthan H, Lenzner S, Hamel BC, Schweiger S, Ropers HH. Kalscheuer VM, et al. Among authors: scherthan h. Nat Genet. 2003 Dec;35(4):313-5. doi: 10.1038/ng1264. Epub 2003 Nov 23. Nat Genet. 2003. PMID: 14634649
Transcriptome Alterations In X-Irradiated Human Gingiva Fibroblasts.
Weissmann R, Kacprowski T, Peper M, Esche J, Jensen LR, van Diepen L, Port M, Kuss AW, Scherthan H. Weissmann R, et al. Among authors: scherthan h. Health Phys. 2016 Aug;111(2):75-84. doi: 10.1097/HP.0000000000000419. Health Phys. 2016. PMID: 27356049 Free PMC article.
Genome-Wide DNA Alterations in X-Irradiated Human Gingiva Fibroblasts.
Nath N, Hagenau L, Weiss S, Tzvetkova A, Jensen LR, Kaderali L, Port M, Scherthan H, Kuss AW. Nath N, et al. Among authors: scherthan h. Int J Mol Sci. 2020 Aug 12;21(16):5778. doi: 10.3390/ijms21165778. Int J Mol Sci. 2020. PMID: 32806598 Free PMC article.
BOD1 Is Required for Cognitive Function in Humans and Drosophila.
Esmaeeli-Nieh S, Fenckova M, Porter IM, Motazacker MM, Nijhof B, Castells-Nobau A, Asztalos Z, Weißmann R, Behjati F, Tzschach A, Felbor U, Scherthan H, Sayfati SM, Ropers HH, Kahrizi K, Najmabadi H, Swedlow JR, Schenck A, Kuss AW. Esmaeeli-Nieh S, et al. Among authors: scherthan h. PLoS Genet. 2016 May 11;12(5):e1006022. doi: 10.1371/journal.pgen.1006022. eCollection 2016 May. PLoS Genet. 2016. PMID: 27166630 Free PMC article.
Sphingomyelin Synthase 1 Is Essential for Male Fertility in Mice.
Wittmann A, Grimm MO, Scherthan H, Horsch M, Beckers J, Fuchs H, Gailus-Durner V, Hrabě de Angelis M, Ford SJ, Burton NC, Razansky D, Trümbach D, Aichler M, Walch AK, Calzada-Wack J, Neff F, Wurst W, Hartmann T, Floss T. Wittmann A, et al. Among authors: scherthan h. PLoS One. 2016 Oct 27;11(10):e0164298. doi: 10.1371/journal.pone.0164298. eCollection 2016. PLoS One. 2016. PMID: 27788151 Free PMC article.
214 results