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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: seisenberger c. 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.
Implication of FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).
Riedhammer KM, Nguyen TT, Koşukcu C, Calzada-Wack J, Li Y, Saygılı S, Wimmers V, Kim GJ, Chrysanthou M, Bakey Z, Kraiger M, Sanz-Moreno A, Amarie OV, Rathkolb B, Klein-Rodewald T, Garrett L, Hölter SM, Seisenberger C, Haug S, Marschall S, Wurst W, Fuchs H, Gailus-Durner V, Wuttke M, de Angelis MH, Ćomić J, Doğan ÖA, Özlük Y, Taşdemir M, Ağbaş A, Canpolat N, Ćalışkan S, Weber R, Bergmann C, Jeanpierre C, Saunier S, Lim TY, Hildebrandt F, Alhaddad B, Wu K, Antony D, Matschkal J, Schaaf C, Renders L, Schmaderer C, Meitinger T, Heemann U, Köttgen A, Arnold S, Ozaltin F, Schmidts M, Hoefele J. Riedhammer KM, et al. Among authors: seisenberger c. medRxiv [Preprint]. 2023 Mar 22:2023.03.21.23287206. doi: 10.1101/2023.03.21.23287206. medRxiv. 2023. PMID: 36993625 Free PMC article. Updated. Preprint.
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: seisenberger c. 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.
Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).
Riedhammer KM, Nguyen TT, Koşukcu C, Calzada-Wack J, Li Y, Assia Batzir N, Saygılı S, Wimmers V, Kim GJ, Chrysanthou M, Bakey Z, Sofrin-Drucker E, Kraiger M, Sanz-Moreno A, Amarie OV, Rathkolb B, Klein-Rodewald T, Garrett L, Hölter SM, Seisenberger C, Haug S, Schlosser P, Marschall S, Wurst W, Fuchs H, Gailus-Durner V, Wuttke M, Hrabe de Angelis M, Ćomić J, Akgün Doğan Ö, Özlük Y, Taşdemir M, Ağbaş A, Canpolat N, Orenstein N, Çalışkan S, Weber RG, Bergmann C, Jeanpierre C, Saunier S, Lim TY, Hildebrandt F, Alhaddad B, Basel-Salmon L, Borovitz Y, Wu K, Antony D, Matschkal J, Schaaf CW, Renders L, Schmaderer C, Rogg M, Schell C, Meitinger T, Heemann U, Köttgen A, Arnold SJ, Ozaltin F, Schmidts M, Hoefele J. Riedhammer KM, et al. Among authors: seisenberger c. Kidney Int. 2024 Apr;105(4):844-864. doi: 10.1016/j.kint.2023.11.032. Epub 2023 Dec 26. Kidney Int. 2024. PMID: 38154558 Free PMC article.
L-type Ca2+ channels of the embryonic mouse heart.
Klugbauer N, Welling A, Specht V, Seisenberger C, Hofmann F. Klugbauer N, et al. Among authors: seisenberger c. Eur J Pharmacol. 2002 Jul 5;447(2-3):279-84. doi: 10.1016/s0014-2999(02)01850-2. Eur J Pharmacol. 2002. PMID: 12151019 Review.
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: seisenberger c. 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.
CRISPR-Cas9 enables conditional mutagenesis of challenging loci.
Schick JA, Seisenberger C, Beig J, Bürger A, Iyer V, Maier V, Perera S, Rosen B, Skarnes WC, Wurst W. Schick JA, et al. Among authors: seisenberger c. Sci Rep. 2016 Sep 1;6:32326. doi: 10.1038/srep32326. Sci Rep. 2016. PMID: 27580957 Free PMC article.
A resource of targeted mutant mouse lines for 5,061 genes.
Birling MC, Yoshiki A, Adams DJ, Ayabe S, Beaudet AL, Bottomley J, Bradley A, Brown SDM, Bürger A, Bushell W, Chiani F, Chin HG, Christou S, Codner GF, DeMayo FJ, Dickinson ME, Doe B, Donahue LR, Fray MD, Gambadoro A, Gao X, Gertsenstein M, Gomez-Segura A, Goodwin LO, Heaney JD, Hérault Y, de Angelis MH, Jiang ST, Justice MJ, Kasparek P, King RE, Kühn R, Lee H, Lee YJ, Liu Z, Lloyd KCK, Lorenzo I, Mallon AM, McKerlie C, Meehan TF, Fuentes VM, Newman S, Nutter LMJ, Oh GT, Pavlovic G, Ramirez-Solis R, Rosen B, Ryder EJ, Santos LA, Schick J, Seavitt JR, Sedlacek R, Seisenberger C, Seong JK, Skarnes WC, Sorg T, Steel KP, Tamura M, Tocchini-Valentini GP, Wang CL, Wardle-Jones H, Wattenhofer-Donzé M, Wells S, Wiles MV, Willis BJ, Wood JA, Wurst W, Xu Y; International Mouse Phenotyping Consortium (IMPC); Teboul L, Murray SA. Birling MC, et al. Among authors: seisenberger c. Nat Genet. 2021 Apr;53(4):416-419. doi: 10.1038/s41588-021-00825-y. Nat Genet. 2021. PMID: 33833456 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: seisenberger c. 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.
The rRNA m6A methyltransferase METTL5 is involved in pluripotency and developmental programs.
Ignatova VV, Stolz P, Kaiser S, Gustafsson TH, Lastres PR, Sanz-Moreno A, Cho YL, Amarie OV, Aguilar-Pimentel A, Klein-Rodewald T, Calzada-Wack J, Becker L, Marschall S, Kraiger M, Garrett L, Seisenberger C, Hölter SM, Borland K, Van De Logt E, Jansen PWTC, Baltissen MP, Valenta M, Vermeulen M, Wurst W, Gailus-Durner V, Fuchs H, Hrabe de Angelis M, Rando OJ, Kellner SM, Bultmann S, Schneider R. Ignatova VV, et al. Among authors: seisenberger c. Genes Dev. 2020 May 1;34(9-10):715-729. doi: 10.1101/gad.333369.119. Epub 2020 Mar 26. Genes Dev. 2020. PMID: 32217665 Free PMC article.
16 results