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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: rathkolb b. 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.
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: rathkolb b. 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: rathkolb b. 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.
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: rathkolb b. 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.
A comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouse.
Biagosch CA, Vidali S, Faerberboeck M, Hensler SV, Becker L, Amarie OV, Aguilar-Pimentel A, Garrett L, Klein-Rodewald T, Rathkolb B, Zanuttigh E, Calzada-Wack J, da Silva-Buttkus P, Rozman J, Treise I, Fuchs H, Gailus-Durner V, de Angelis MH, Janik D, Wurst W, Mayr JA, Klopstock T, Meitinger T, Prokisch H, Iuso A. Biagosch CA, et al. Among authors: rathkolb b. Mamm Genome. 2021 Oct;32(5):332-349. doi: 10.1007/s00335-021-09875-3. Epub 2021 May 27. Mamm Genome. 2021. PMID: 34043061 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: rathkolb b. 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: rathkolb b. 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.
Standardized, systemic phenotypic analysis reveals kidney dysfunction as main alteration of Kctd1 I27N mutant mice.
Kumar S, Rathkolb B, Sabrautzki S, Krebs S, Kemter E, Becker L, Beckers J, Bekeredjian R, Brommage R, Calzada-Wack J, Garrett L, Hölter SM, Horsch M, Klingenspor M, Klopstock T, Moreth K, Neff F, Rozman J, Fuchs H, Gailus-Durner V, Hrabe de Angelis M, Wolf E, Aigner B. Kumar S, et al. Among authors: rathkolb b. J Biomed Sci. 2017 Aug 17;24(1):57. doi: 10.1186/s12929-017-0365-5. J Biomed Sci. 2017. PMID: 28818080 Free PMC article.
Uromodulin retention in thick ascending limb of Henle's loop affects SCD1 in neighboring proximal tubule: renal transcriptome studies in mouse models of uromodulin-associated kidney disease.
Horsch M, Beckers J, Fuchs H, Gailus-Durner V, Hrabě de Angelis M, Rathkolb B, Wolf E, Aigner B, Kemter E. Horsch M, et al. Among authors: rathkolb b. PLoS One. 2014 Nov 19;9(11):e113125. doi: 10.1371/journal.pone.0113125. eCollection 2014. PLoS One. 2014. PMID: 25409434 Free PMC article.
160 results