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Recognizable Pattern of Arthrogryposis and Congenital Myopathy Caused by the Recurrent TTN Metatranscript-only c.39974-11T > G Splice Variant.
Averdunk L, Donkervoort S, Horn D, Waldmüller S, Syeda S, Neuhaus SB, Chao KR, van Riesen A, Gauck D, Haack T, Japp AS, Lee U, Bönnemann CG, Mayatepek E, Distelmaier F. Averdunk L, et al. Among authors: japp as. Neuropediatrics. 2022 Oct;53(5):309-320. doi: 10.1055/a-1859-0800. Epub 2022 May 23. Neuropediatrics. 2022. PMID: 35605965 Free article.
Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction.
Kolvenbach CM, Dworschak GC, Frese S, Japp AS, Schuster P, Wenzlitschke N, Yilmaz Ö, Lopes FM, Pryalukhin A, Schierbaum L, van der Zanden LFM, Kause F, Schneider R, Taranta-Janusz K, Szczepańska M, Pawlaczyk K, Newman WG, Beaman GM, Stuart HM, Cervellione RM, Feitz WFJ, van Rooij IALM, Schreuder MF, Steffens M, Weber S, Merz WM, Feldkötter M, Hoppe B, Thiele H, Altmüller J, Berg C, Kristiansen G, Ludwig M, Reutter H, Woolf AS, Hildebrandt F, Grote P, Zaniew M, Odermatt B, Hilger AC. Kolvenbach CM, et al. Among authors: japp as. Am J Hum Genet. 2019 May 2;104(5):994-1006. doi: 10.1016/j.ajhg.2019.03.023. Am J Hum Genet. 2019. PMID: 31051115 Free PMC article.
SLC20A1 Is Involved in Urinary Tract and Urorectal Development.
Rieke JM, Zhang R, Braun D, Yilmaz Ö, Japp AS, Lopes FM, Pleschka M, Hilger AC, Schneider S, Newman WG, Beaman GM, Nordenskjöld A, Ebert AK, Promm M, Rösch WH, Stein R, Hirsch K, Schäfer FM, Schmiedeke E, Boemers TM, Lacher M, Kluth D, Gosemann JH, Anderberg M, Barker G, Holmdahl G, Läckgren G, Keene D, Cervellione RM, Giorgio E, Di Grazia M, Feitz WFJ, Marcelis CLM, Van Rooij IALM, Bökenkamp A, Beckers GMA, Keegan CE, Sharma A, Dakal TC, Wittler L, Grote P, Zwink N, Jenetzky E, Brusco A, Thiele H, Ludwig M, Schweizer U, Woolf AS, Odermatt B, Reutter H. Rieke JM, et al. Among authors: japp as. Front Cell Dev Biol. 2020 Aug 7;8:567. doi: 10.3389/fcell.2020.00567. eCollection 2020. Front Cell Dev Biol. 2020. PMID: 32850778 Free PMC article.
CNS myelin protein 36K regulates oligodendrocyte differentiation through Notch.
Nagarajan B, Harder A, Japp A, Häberlein F, Mingardo E, Kleinert H, Yilmaz Ö, Zoons A, Rau B, Christ A, Kubitscheck U, Eiberger B, Sandhoff R, Eckhardt M, Hartmann D, Odermatt B. Nagarajan B, et al. Glia. 2020 Mar;68(3):509-527. doi: 10.1002/glia.23732. Epub 2019 Nov 8. Glia. 2020. PMID: 31702067
Humanized zebrafish as a tractable tool for in vivo evaluation of pro-myelinating drugs.
Häberlein F, Mingardo E, Merten N, Schulze Köhling NK, Reinoß P, Simon K, Japp A, Nagarajan B, Schrage R, Pegurier C, Gillard M, Monk KR, Odermatt B, Kostenis E, Gomeza J. Häberlein F, et al. Cell Chem Biol. 2022 Oct 20;29(10):1541-1555.e7. doi: 10.1016/j.chembiol.2022.08.007. Epub 2022 Sep 19. Cell Chem Biol. 2022. PMID: 36126653 Free article.
29 results