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Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
NPJ Genom Med. 2024 Mar 1;9(1):18. doi: 10.1038/s41525-024-00398-9.
NPJ Genom Med. 2024.
PMID: 38429302
Free PMC article.
Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation.
Köllges R, Stegmann J, Schneider S, Waffenschmidt L, Fazaal J, Breuer K, Hilger AC, Dworschak GC, Mingardo E, Rösch W, Hofmann A, Neissner C, Ebert AK, Stein R, Younsi N, Hirsch-Koch K, Schmiedeke E, Zwink N, Jenetzky E, Thiele H, Ludwig KU, Reutter H.
Köllges R, et al. Among authors: mingardo e.
Biomolecules. 2023 Jul 13;13(7):1117. doi: 10.3390/biom13071117.
Biomolecules. 2023.
PMID: 37509153
Free PMC article.
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Impact of the Voltage-Gated Calcium Channel Antagonist Nimodipine on the Development of Oligodendrocyte Precursor Cells.
Enders M, Weier A, Chunder R, An Y, Bremm F, Feigenspan A, Buettner C, Ekici AB, Mingardo E, Odermatt B, Kuerten S.
Enders M, et al. Among authors: mingardo e.
Int J Mol Sci. 2023 Feb 13;24(4):3716. doi: 10.3390/ijms24043716.
Int J Mol Sci. 2023.
PMID: 36835129
Free PMC article.
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A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy.
Mingardo E, Beaman G, Grote P, Nordenskjöld A, Newman W, Woolf AS, Eckstein M, Hilger AC, Dworschak GC, Rösch W, Ebert AK, Stein R, Brusco A, Di Grazia M, Tamer A, Torres FM, Hernandez JL, Erben P, Maj C, Olmos JM, Riancho JA, Valero C, Hostettler IC, Houlden H, Werring DJ, Schumacher J, Gehlen J, Giel AS, Buerfent BC, Arkani S, Åkesson E, Rotstein E, Ludwig M, Holmdahl G, Giorgio E, Berettini A, Keene D, Cervellione RM, Younsi N, Ortlieb M, Oswald J, Haid B, Promm M, Neissner C, Hirsch K, Stehr M, Schäfer FM, Schmiedeke E, Boemers TM, van Rooij IALM, Feitz WFJ, Marcelis CLM, Lacher M, Nelson J, Ure B, Fortmann C, Gale DP, Chan MMY, Ludwig KU, Nöthen MM, Heilmann S, Zwink N, Jenetzky E, Odermatt B, Knapp M, Reutter H.
Mingardo E, et al.
Commun Biol. 2022 Nov 9;5(1):1203. doi: 10.1038/s42003-022-04092-3.
Commun Biol. 2022.
PMID: 36352089
Free PMC article.
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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. Among authors: mingardo e.
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.
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Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.
Dworschak GC, Punetha J, Kalanithy JC, Mingardo E, Erdem HB, Akdemir ZC, Karaca E, Mitani T, Marafi D, Fatih JM, Jhangiani SN, Hunter JV, Dakal TC, Dhabhai B, Dabbagh O, Alsaif HS, Alkuraya FS, Maroofian R, Houlden H, Efthymiou S, Dominik N, Salpietro V, Sultan T, Haider S, Bibi F, Thiele H, Hoefele J, Riedhammer KM, Wagner M, Guella I, Demos M, Keren B, Buratti J, Charles P, Nava C, Héron D, Heide S, Valkanas E, Waddell LB, Jones KJ, Oates EC, Cooper ST, MacArthur D, Syrbe S, Ziegler A, Platzer K, Okur V, Chung WK, O'Shea SA, Alcalay R, Fahn S, Mark PR, Guerrini R, Vetro A, Hudson B, Schnur RE, Hoganson GE, Burton JE, McEntagart M, Lindenberg T, Yilmaz Ö, Odermatt B, Pehlivan D, Posey JE, Lupski JR, Reutter H.
Dworschak GC, et al. Among authors: mingardo e.
Genet Med. 2021 Sep;23(9):1715-1725. doi: 10.1038/s41436-021-01196-9. Epub 2021 May 30.
Genet Med. 2021.
PMID: 34054129
Free PMC article.
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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. Among authors: mingardo e.
Glia. 2020 Mar;68(3):509-527. doi: 10.1002/glia.23732. Epub 2019 Nov 8.
Glia. 2020.
PMID: 31702067
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