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Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
Calame DG, Guo T, Wang C, Garrett L, Jolly A, Dawood M, Kurolap A, Henig NZ, Fatih JM, Herman I, Du H, Mitani T, Becker L, Rathkolb B, Gerlini R, Seisenberger C, Marschall S, Hunter JV, Gerard A, Heidlebaugh A, Challman T, Spillmann RC, Jhangiani SN, Coban-Akdemir Z, Lalani S, Liu L, Revah-Politi A, Iglesias A, Guzman E, Baugh E, Boddaert N, Rondeau S, Ormieres C, Barcia G, Tan QKG, Thiffault I, Pastinen T, Sheikh K, Biliciler S, Mei D, Melani F, Shashi V, Yaron Y, Steele M, Wakeling E, Østergaard E, Nazaryan-Petersen L; Undiagnosed Diseases Network; Millan F, Santiago-Sim T, Thevenon J, Bruel AL, Thauvin-Robinet C, Popp D, Platzer K, Gawlinski P, Wiszniewski W, Marafi D, Pehlivan D, Posey JE, Gibbs RA, Gailus-Durner V, Guerrini R, Fuchs H, Hrabě de Angelis M, Hölter SM, Cheung HH, Gu S, Lupski JR. Calame DG, et al. Among authors: gailus durner v. Am J Hum Genet. 2023 Aug 3;110(8):1394-1413. doi: 10.1016/j.ajhg.2023.06.013. Epub 2023 Jul 18. Am J Hum Genet. 2023. PMID: 37467750 Free PMC article.
Power matters in closing the phenotyping gap.
Meyer CW, Elvert R, Scherag A, Ehrhardt N, Gailus-Durner V, Fuchs H, Schäfer H, Hrabé de Angelis M, Heldmaier G, Klingenspor M. Meyer CW, et al. Naturwissenschaften. 2007 May;94(5):401-6. doi: 10.1007/s00114-006-0203-1. Epub 2007 Jan 10. Naturwissenschaften. 2007. PMID: 17216184
Deletion of glucose transporter GLUT8 in mice increases locomotor activity.
Schmidt S, Gawlik V, Hölter SM, Augustin R, Scheepers A, Behrens M, Wurst W, Gailus-Durner V, Fuchs H, Hrabé de Angelis M, Kluge R, Joost HG, Schürmann A. Schmidt S, et al. Behav Genet. 2008 Jul;38(4):396-406. doi: 10.1007/s10519-008-9208-1. Epub 2008 May 7. Behav Genet. 2008. PMID: 18461434 Free PMC article.
Pleiotropic effects in Eya3 knockout mice.
Söker T, Dalke C, Puk O, Floss T, Becker L, Bolle I, Favor J, Hans W, Hölter SM, Horsch M, Kallnik M, Kling E, Moerth C, Schrewe A, Stigloher C, Topp S, Gailus-Durner V, Naton B, Beckers J, Fuchs H, Ivandic B, Klopstock T, Schulz H, Wolf E, Wurst W, Bally-Cuif L, de Angelis MH, Graw J. Söker T, et al. BMC Dev Biol. 2008 Dec 22;8:118. doi: 10.1186/1471-213X-8-118. BMC Dev Biol. 2008. PMID: 19102749 Free PMC article.
Neurological phenotype and reduced lifespan in heterozygous Tim23 knockout mice, the first mouse model of defective mitochondrial import.
Ahting U, Floss T, Uez N, Schneider-Lohmar I, Becker L, Kling E, Iuso A, Bender A, de Angelis MH, Gailus-Durner V, Fuchs H, Meitinger T, Wurst W, Prokisch H, Klopstock T. Ahting U, et al. Biochim Biophys Acta. 2009 May;1787(5):371-6. doi: 10.1016/j.bbabio.2008.12.001. Epub 2008 Dec 9. Biochim Biophys Acta. 2009. PMID: 19111522 Free article.
227 results