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Page 1
Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome.
Oh RY, Deshwar AR, Marwaha A, Sabha N, Tropak M, Hou H, Yuki KE, Wilson MD, Rump P, Lunsing R, Elserafy N, Chung CWT, Hewson S, Klein-Rodewald T, Calzada-Wack J, Sanz-Moreno A, Kraiger M, Marschall S, Fuchs H, Gailus-Durner V, Hrabe de Angelis M, Dowling J, Schulze A. Oh RY, et al. Genet Med. 2022 Nov;24(11):2399-2407. doi: 10.1016/j.gim.2022.07.024. Epub 2022 Sep 9. Genet Med. 2022. PMID: 36083289 Free article.
Systemic first-line phenotyping.
Gailus-Durner V, Fuchs H, Adler T, Aguilar Pimentel A, Becker L, Bolle I, Calzada-Wack J, Dalke C, Ehrhardt N, Ferwagner B, Hans W, Hölter SM, Hölzlwimmer G, Horsch M, Javaheri A, Kallnik M, Kling E, Lengger C, Mörth C, Mossbrugger I, Naton B, Prehn C, Puk O, Rathkolb B, Rozman J, Schrewe A, Thiele F, Adamski J, Aigner B, Behrendt H, Busch DH, Favor J, Graw J, Heldmaier G, Ivandic B, Katus H, Klingenspor M, Klopstock T, Kremmer E, Ollert M, Quintanilla-Martinez L, Schulz H, Wolf E, Wurst W, de Angelis MH. Gailus-Durner V, et al. Methods Mol Biol. 2009;530:463-509. doi: 10.1007/978-1-59745-471-1_25. Methods Mol Biol. 2009. PMID: 19266331
Microphthalmia, parkinsonism, and enhanced nociception in Pitx3 ( 416insG ) mice.
Rosemann M, Ivashkevich A, Favor J, Dalke C, Hölter SM, Becker L, Rácz I, Bolle I, Klempt M, Rathkolb B, Kalaydjiev S, Adler T, Aguilar A, Hans W, Horsch M, Rozman J, Calzada-Wack J, Kunder S, Naton B, Gailus-Durner V, Fuchs H, Schulz H, Beckers J, Busch DH, Burbach JP, Smidt MP, Quintanilla-Martinez L, Esposito I, Klopstock T, Klingenspor M, Ollert M, Wolf E, Wurst W, Zimmer A, de Angelis MH, Atkinson M, Heinzmann U, Graw J. Rosemann M, et al. Mamm Genome. 2010 Feb;21(1-2):13-27. doi: 10.1007/s00335-009-9235-0. Epub 2009 Dec 22. Mamm Genome. 2010. PMID: 20033184
Mouse phenotyping.
Fuchs H, Gailus-Durner V, Adler T, Aguilar-Pimentel JA, Becker L, Calzada-Wack J, Da Silva-Buttkus P, Neff F, Götz A, Hans W, Hölter SM, Horsch M, Kastenmüller G, Kemter E, Lengger C, Maier H, Matloka M, Möller G, Naton B, Prehn C, Puk O, Rácz I, Rathkolb B, Römisch-Margl W, Rozman J, Wang-Sattler R, Schrewe A, Stöger C, Tost M, Adamski J, Aigner B, Beckers J, Behrendt H, Busch DH, Esposito I, Graw J, Illig T, Ivandic B, Klingenspor M, Klopstock T, Kremmer E, Mempel M, Neschen S, Ollert M, Schulz H, Suhre K, Wolf E, Wurst W, Zimmer A, Hrabě de Angelis M. Fuchs H, et al. Methods. 2011 Feb;53(2):120-35. doi: 10.1016/j.ymeth.2010.08.006. Epub 2010 Aug 12. Methods. 2011. PMID: 20708688 Review.
Requirement of the RNA-editing enzyme ADAR2 for normal physiology in mice.
Horsch M, Seeburg PH, Adler T, Aguilar-Pimentel JA, Becker L, Calzada-Wack J, Garrett L, Götz A, Hans W, Higuchi M, Hölter SM, Naton B, Prehn C, Puk O, Rácz I, Rathkolb B, Rozman J, Schrewe A, Adamski J, Busch DH, Esposito I, Graw J, Ivandic B, Klingenspor M, Klopstock T, Mempel M, Ollert M, Schulz H, Wolf E, Wurst W, Zimmer A, Gailus-Durner V, Fuchs H, de Angelis MH, Beckers J. Horsch M, et al. J Biol Chem. 2011 May 27;286(21):18614-22. doi: 10.1074/jbc.M110.200881. Epub 2011 Apr 5. J Biol Chem. 2011. PMID: 21467037 Free PMC article.
New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis.
Sabrautzki S, Rubio-Aliaga I, Hans W, Fuchs H, Rathkolb B, Calzada-Wack J, Cohrs CM, Klaften M, Seedorf H, Eck S, Benet-Pagès A, Favor J, Esposito I, Strom TM, Wolf E, Lorenz-Depiereux B, Hrabě de Angelis M. Sabrautzki S, et al. Mamm Genome. 2012 Aug;23(7-8):416-30. doi: 10.1007/s00335-012-9397-z. Epub 2012 Apr 21. Mamm Genome. 2012. PMID: 22527485 Free PMC article.
Srgap3⁻/⁻ mice present a neurodevelopmental disorder with schizophrenia-related intermediate phenotypes.
Waltereit R, Leimer U, von Bohlen Und Halbach O, Panke J, Hölter SM, Garrett L, Wittig K, Schneider M, Schmitt C, Calzada-Wack J, Neff F, Becker L, Prehn C, Kutscherjawy S, Endris V, Bacon C, Fuchs H, Gailus-Durner V, Berger S, Schönig K, Adamski J, Klopstock T, Esposito I, Wurst W, de Angelis MH, Rappold G, Wieland T, Bartsch D. Waltereit R, et al. FASEB J. 2012 Nov;26(11):4418-28. doi: 10.1096/fj.11-202317. Epub 2012 Jul 20. FASEB J. 2012. PMID: 22820399
Innovations in phenotyping of mouse models in the German Mouse Clinic.
Fuchs H, Gailus-Durner V, Neschen S, Adler T, Afonso LC, Aguilar-Pimentel JA, Becker L, Bohla A, Calzada-Wack J, Cohrs C, Dewert A, Fridrich B, Garrett L, Glasl L, Götz A, Hans W, Hölter SM, Horsch M, Hurt A, Janas E, Janik D, Kahle M, Kistler M, Klein-Rodewald T, Lengger C, Ludwig T, Maier H, Marschall S, Micklich K, Möller G, Naton B, Prehn C, Puk O, Rácz I, Räss M, Rathkolb B, Rozman J, Scheerer M, Schiller E, Schrewe A, Steinkamp R, Stöger C, Sun M, Szymczak W, Treise I, Vargas Panesso IL, Vernaleken AM, Willershäuser M, Wolff-Muscate A, Zeh R, Adamski J, Beckers J, Bekeredjian R, Busch DH, Eickelberg O, Favor J, Graw J, Höfler H, Höschen C, Katus H, Klingenspor M, Klopstock T, Neff F, Ollert M, Schulz H, Stöger T, Wolf E, Wurst W, Yildirim AÖ, Zimmer A, Hrabě de Angelis M. Fuchs H, et al. Mamm Genome. 2012 Oct;23(9-10):611-22. doi: 10.1007/s00335-012-9415-1. Epub 2012 Aug 29. Mamm Genome. 2012. PMID: 22926221 Free PMC article.
90 results