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Page 1
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: gerlini r. 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.
Post-synaptic scaffold protein TANC2 in psychiatric and somatic disease risk.
Garrett L, Da Silva-Buttkus P, Rathkolb B, Gerlini R, Becker L, Sanz-Moreno A, Seisenberger C, Zimprich A, Aguilar-Pimentel A, Amarie OV, Cho YL, Kraiger M, Spielmann N, Calzada-Wack J, Marschall S, Busch D, Schmitt-Weber C, Wolf E, Wurst W, Fuchs H, Gailus-Durner V, Hölter SM, Hrabě de Angelis M. Garrett L, et al. Among authors: gerlini r. Dis Model Mech. 2022 Mar 1;15(3):dmm049205. doi: 10.1242/dmm.049205. Epub 2022 Mar 4. Dis Model Mech. 2022. PMID: 34964047 Free PMC article.
Identifying causal serum protein-cardiometabolic trait relationships using whole genome sequencing.
Png G, Gerlini R, Hatzikotoulas K, Barysenka A, Rayner NW, Klarić L, Rathkolb B, Aguilar-Pimentel JA, Rozman J, Fuchs H, Gailus-Durner V, Tsafantakis E, Karaleftheri M, Dedoussis G, Pietrzik C, Wilson JF, de Angelis MH, Becker-Pauly C, Gilly A, Zeggini E. Png G, et al. Among authors: gerlini r. Hum Mol Genet. 2023 Apr 6;32(8):1266-1275. doi: 10.1093/hmg/ddac275. Hum Mol Genet. 2023. PMID: 36349687 Free PMC article.
Knockout mouse models as a resource for the study of rare diseases.
da Silva-Buttkus P, Spielmann N, Klein-Rodewald T, Schütt C, Aguilar-Pimentel A, Amarie OV, Becker L, Calzada-Wack J, Garrett L, Gerlini R, Kraiger M, Leuchtenberger S, Östereicher MA, Rathkolb B, Sanz-Moreno A, Stöger C, Hölter SM, Seisenberger C, Marschall S, Fuchs H, Gailus-Durner V, Hrabě de Angelis M. da Silva-Buttkus P, et al. Among authors: gerlini r. Mamm Genome. 2023 Jun;34(2):244-261. doi: 10.1007/s00335-023-09986-z. Epub 2023 May 9. Mamm Genome. 2023. PMID: 37160609 Free PMC article.
Mice lacking the mitochondrial exonuclease MGME1 develop inflammatory kidney disease with glomerular dysfunction.
Milenkovic D, Sanz-Moreno A, Calzada-Wack J, Rathkolb B, Veronica Amarie O, Gerlini R, Aguilar-Pimentel A, Misic J, Simard ML, Wolf E, Fuchs H, Gailus-Durner V, de Angelis MH, Larsson NG. Milenkovic D, et al. Among authors: gerlini r. PLoS Genet. 2022 May 9;18(5):e1010190. doi: 10.1371/journal.pgen.1010190. eCollection 2022 May. PLoS Genet. 2022. PMID: 35533204 Free PMC article.
AOX delays the onset of the lethal phenotype in a mouse model of Uqcrh (complex III) disease.
Jacobs HT, Szibor M, Rathkolb B, da Silva-Buttkus P, Aguilar-Pimentel JA, Amarie OV, Becker L, Calzada-Wack J, Dragano N, Garrett L, Gerlini R, Hölter SM, Klein-Rodewald T, Kraiger M, Leuchtenberger S, Marschall S, Östereicher MA, Pfannes K, Sanz-Moreno A, Seisenberger C, Spielmann N, Stoeger C, Wurst W, Fuchs H, Hrabě de Angelis M, Gailus-Durner V. Jacobs HT, et al. Among authors: gerlini r. Biochim Biophys Acta Mol Basis Dis. 2023 Oct;1869(7):166760. doi: 10.1016/j.bbadis.2023.166760. Epub 2023 May 23. Biochim Biophys Acta Mol Basis Dis. 2023. PMID: 37230398 Free article.
Insights into energy balance dysregulation from a mouse model of methylmalonic aciduria.
Lucienne M, Gerlini R, Rathkolb B, Calzada-Wack J, Forny P, Wueest S, Kaech A, Traversi F, Forny M, Bürer C, Aguilar-Pimentel A, Irmler M, Beckers J, Sauer S, Kölker S, Dewulf JP, Bommer GT, Hoces D, Gailus-Durner V, Fuchs H, Rozman J, Froese DS, Baumgartner MR, de Angelis MH. Lucienne M, et al. Among authors: gerlini r. Hum Mol Genet. 2023 Aug 26;32(17):2717-2734. doi: 10.1093/hmg/ddad100. Hum Mol Genet. 2023. PMID: 37369025 Free PMC article.
Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes.
Vidali S, Gerlini R, Thompson K, Urquhart JE, Meisterknecht J, Aguilar-Pimentel JA, Amarie OV, Becker L, Breen C, Calzada-Wack J, Chhabra NF, Cho YL, da Silva-Buttkus P, Feichtinger RG, Gampe K, Garrett L, Hoefig KP, Hölter SM, Jameson E, Klein-Rodewald T, Leuchtenberger S, Marschall S, Mayer-Kuckuk P, Miller G, Oestereicher MA, Pfannes K, Rathkolb B, Rozman J, Sanders C, Spielmann N, Stoeger C, Szibor M, Treise I, Walter JH, Wurst W, Mayr JA, Fuchs H, Gärtner U, Wittig I, Taylor RW, Newman WG, Prokisch H, Gailus-Durner V, Hrabě de Angelis M. Vidali S, et al. Among authors: gerlini r. EMBO Mol Med. 2021 Dec 7;13(12):e14397. doi: 10.15252/emmm.202114397. Epub 2021 Nov 8. EMBO Mol Med. 2021. PMID: 34750991 Free PMC article.
Increased estrogen to androgen ratio enhances immunoglobulin levels and impairs B cell function in male mice.
Aguilar-Pimentel JA, Cho YL, Gerlini R, Calzada-Wack J, Wimmer M, Mayer-Kuckuk P, Adler T, Schmidt-Weber CB, Busch DH, Fuchs H, Gailus-Durner V, Ollert M, Hrabě de Angelis M, Ohlsson C, Poutanen M, Teperino R, Strauss L. Aguilar-Pimentel JA, et al. Among authors: gerlini r. Sci Rep. 2020 Oct 27;10(1):18334. doi: 10.1038/s41598-020-75059-9. Sci Rep. 2020. PMID: 33110090 Free PMC article.
Disruption of paternal circadian rhythm affects metabolic health in male offspring via nongerm cell factors.
Lassi M, Tomar A, Comas-Armangué G, Vogtmann R, Dijkstra DJ, Corujo D, Gerlini R, Darr J, Scheid F, Rozman J, Aguilar-Pimentel A, Koren O, Buschbeck M, Fuchs H, Marschall S, Gailus-Durner V, Hrabe de Angelis M, Plösch T, Gellhaus A, Teperino R. Lassi M, et al. Among authors: gerlini r. Sci Adv. 2021 May 26;7(22):eabg6424. doi: 10.1126/sciadv.abg6424. Print 2021 May. Sci Adv. 2021. PMID: 34039610 Free PMC article.
23 results