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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
Dll1 haploinsufficiency in adult mice leads to a complex phenotype affecting metabolic and immunological processes.
Rubio-Aliaga I, Przemeck GK, Fuchs H, Gailus-Durner V, Adler T, Hans W, Horsch M, Rathkolb B, Rozman J, Schrewe A, Wagner S, Hoelter SM, Becker L, Klopstock T, Wurst W, Wolf E, Klingenspor M, Ivandic BT, Busch DH, Beckers J, Hrabé de Angelis M. Rubio-Aliaga I, et al. PLoS One. 2009 Jun 29;4(6):e6054. doi: 10.1371/journal.pone.0006054. PLoS One. 2009. PMID: 19562077 Free PMC article.
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.
235 results