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Page 1
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: spielmann n. 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.
Cited4 is a sex-biased mediator of the antidiabetic glitazone response in adipocyte progenitors.
Bayindir-Buchhalter I, Wolff G, Lerch S, Sijmonsma T, Schuster M, Gronych J, Billeter AT, Babaei R, Krunic D, Ketscher L, Spielmann N, Hrabe de Angelis M, Ruas JL, Müller-Stich BP, Heikenwalder M, Lichter P, Herzig S, Vegiopoulos A. Bayindir-Buchhalter I, et al. Among authors: spielmann n. EMBO Mol Med. 2018 Aug;10(8):e8613. doi: 10.15252/emmm.201708613. EMBO Mol Med. 2018. PMID: 29973382 Free PMC article.
Claudin-12 is not required for blood-brain barrier tight junction function.
Castro Dias M, Coisne C, Baden P, Enzmann G, Garrett L, Becker L, Hölter SM; German Mouse Clinic Consortium; Hrabě de Angelis M, Deutsch U, Engelhardt B. Castro Dias M, et al. Fluids Barriers CNS. 2019 Sep 12;16(1):30. doi: 10.1186/s12987-019-0150-9. Fluids Barriers CNS. 2019. PMID: 31511021 Free PMC article.
Soft windowing application to improve analysis of high-throughput phenotyping data.
Haselimashhadi H, Mason JC, Munoz-Fuentes V, López-Gómez F, Babalola K, Acar EF, Kumar V, White J, Flenniken AM, King R, Straiton E, Seavitt JR, Gaspero A, Garza A, Christianson AE, Hsu CW, Reynolds CL, Lanza DG, Lorenzo I, Green JR, Gallegos JJ, Bohat R, Samaco RC, Veeraragavan S, Kim JK, Miller G, Fuchs H, Garrett L, Becker L, Kang YK, Clary D, Cho SY, Tamura M, Tanaka N, Soo KD, Bezginov A, About GB, Champy MF, Vasseur L, Leblanc S, Meziane H, Selloum M, Reilly PT, Spielmann N, Maier H, Gailus-Durner V, Sorg T, Hiroshi M, Yuichi O, Heaney JD, Dickinson ME, Wolfgang W, Tocchini-Valentini GP, Lloyd KCK, McKerlie C, Seong JK, Yann H, de Angelis MH, Brown SDM, Smedley D, Flicek P, Mallon AM, Parkinson H, Meehan TF. Haselimashhadi H, et al. Among authors: spielmann n. Bioinformatics. 2020 Mar 1;36(5):1492-1500. doi: 10.1093/bioinformatics/btz744. Bioinformatics. 2020. PMID: 31591642 Free PMC article.
In-depth phenotyping reveals common and novel disease symptoms in a hemizygous knock-in mouse model (Mut-ko/ki) of mut-type methylmalonic aciduria.
Lucienne M, Aguilar-Pimentel JA, Amarie OV, Becker L, Calzada-Wack J, da Silva-Buttkus P, Garrett L, Hölter SM, Mayer-Kuckuk P, Rathkolb B, Rozman J, Spielmann N, Treise I, Busch DH, Klopstock T, Schmidt-Weber C, Wolf E, Wurst W, Forny M, Mathis D, Fingerhut R, Froese DS, Gailus-Durner V, Fuchs H, de Angelis MH, Baumgartner MR. Lucienne M, et al. Among authors: spielmann n. Biochim Biophys Acta Mol Basis Dis. 2020 Mar 1;1866(3):165622. doi: 10.1016/j.bbadis.2019.165622. Epub 2019 Nov 23. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 31770620 Free article.
A comprehensive and comparative phenotypic analysis of the collaborative founder strains identifies new and known phenotypes.
Kollmus H, Fuchs H, Lengger C, Haselimashhadi H, Bogue MA, Östereicher MA, Horsch M, Adler T, Aguilar-Pimentel JA, Amarie OV, Becker L, Beckers J, Calzada-Wack J, Garrett L, Hans W, Hölter SM, Klein-Rodewald T, Maier H, Mayer-Kuckuk P, Miller G, Moreth K, Neff F, Rathkolb B, Rácz I, Rozman J, Spielmann N, Treise I, Busch D, Graw J, Klopstock T, Wolf E, Wurst W, Yildirim AÖ, Mason J, Torres A; Mouse Phenome Database Team; Balling R, Mehaan T, Gailus-Durner V, Schughart K, Hrabě de Angelis M. Kollmus H, et al. Among authors: spielmann n. Mamm Genome. 2020 Feb;31(1-2):30-48. doi: 10.1007/s00335-020-09827-3. Epub 2020 Feb 14. Mamm Genome. 2020. PMID: 32060626 Free PMC article.
Mouse mutant phenotyping at scale reveals novel genes controlling bone mineral density.
Swan AL, Schütt C, Rozman J, Del Mar Muñiz Moreno M, Brandmaier S, Simon M, Leuchtenberger S, Griffiths M, Brommage R, Keskivali-Bond P, Grallert H, Werner T, Teperino R, Becker L, Miller G, Moshiri A, Seavitt JR, Cissell DD, Meehan TF, Acar EF, Lelliott CJ, Flenniken AM, Champy MF, Sorg T, Ayadi A, Braun RE, Cater H, Dickinson ME, Flicek P, Gallegos J, Ghirardello EJ, Heaney JD, Jacquot S, Lally C, Logan JG, Teboul L, Mason J, Spielmann N, McKerlie C, Murray SA, Nutter LMJ, Odfalk KF, Parkinson H, Prochazka J, Reynolds CL, Selloum M, Spoutil F, Svenson KL, Vales TS, Wells SE, White JK, Sedlacek R, Wurst W, Lloyd KCK, Croucher PI, Fuchs H, Williams GR, Bassett JHD, Gailus-Durner V, Herault Y, Mallon AM, Brown SDM, Mayer-Kuckuk P, Hrabe de Angelis M; IMPC Consortium. Swan AL, et al. Among authors: spielmann n. PLoS Genet. 2020 Dec 28;16(12):e1009190. doi: 10.1371/journal.pgen.1009190. eCollection 2020 Dec. PLoS Genet. 2020. PMID: 33370286 Free PMC article.
Creld1 regulates myocardial development and function.
Beckert V, Rassmann S, Kayvanjoo AH, Klausen C, Bonaguro L, Botermann DS, Krause M, Moreth K, Spielmann N, da Silva-Buttkus P, Fuchs H, Gailus-Durner V, de Angelis MH, Händler K, Ulas T, Aschenbrenner AC, Mass E, Wachten D. Beckert V, et al. Among authors: spielmann n. J Mol Cell Cardiol. 2021 Jul;156:45-56. doi: 10.1016/j.yjmcc.2021.03.008. Epub 2021 Mar 24. J Mol Cell Cardiol. 2021. PMID: 33773996 Free article.
Hyperexcitable interneurons trigger cortical spreading depression in an Scn1a migraine model.
Auffenberg E, Hedrich UB, Barbieri R, Miely D, Groschup B, Wuttke TV, Vogel N, Lührs P, Zanardi I, Bertelli S, Spielmann N, Gailus-Durner V, Fuchs H, Hrabě de Angelis M, Pusch M, Dichgans M, Lerche H, Gavazzo P, Plesnila N, Freilinger T. Auffenberg E, et al. Among authors: spielmann n. J Clin Invest. 2021 Nov 1;131(21):e142202. doi: 10.1172/JCI142202. J Clin Invest. 2021. PMID: 34546973 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: spielmann n. 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.
85 results