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Mutations in Disordered Regions Can Cause Disease by Creating Dileucine Motifs.
Meyer K, Kirchner M, Uyar B, Cheng JY, Russo G, Hernandez-Miranda LR, Szymborska A, Zauber H, Rudolph IM, Willnow TE, Akalin A, Haucke V, Gerhardt H, Birchmeier C, Kühn R, Krauss M, Diecke S, Pascual JM, Selbach M. Meyer K, et al. Among authors: kuhn r. Cell. 2018 Sep 20;175(1):239-253.e17. doi: 10.1016/j.cell.2018.08.019. Epub 2018 Sep 6. Cell. 2018. PMID: 30197081 Free article.
Loss of a mammalian circular RNA locus causes miRNA deregulation and affects brain function.
Piwecka M, Glažar P, Hernandez-Miranda LR, Memczak S, Wolf SA, Rybak-Wolf A, Filipchyk A, Klironomos F, Cerda Jara CA, Fenske P, Trimbuch T, Zywitza V, Plass M, Schreyer L, Ayoub S, Kocks C, Kühn R, Rosenmund C, Birchmeier C, Rajewsky N. Piwecka M, et al. Among authors: kuhn r. Science. 2017 Sep 22;357(6357):eaam8526. doi: 10.1126/science.aam8526. Epub 2017 Aug 10. Science. 2017. PMID: 28798046
Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome.
Inak G, Rybak-Wolf A, Lisowski P, Pentimalli TM, Jüttner R, Glažar P, Uppal K, Bottani E, Brunetti D, Secker C, Zink A, Meierhofer D, Henke MT, Dey M, Ciptasari U, Mlody B, Hahn T, Berruezo-Llacuna M, Karaiskos N, Di Virgilio M, Mayr JA, Wortmann SB, Priller J, Gotthardt M, Jones DP, Mayatepek E, Stenzel W, Diecke S, Kühn R, Wanker EE, Rajewsky N, Schuelke M, Prigione A. Inak G, et al. Among authors: kuhn r. Nat Commun. 2021 Mar 26;12(1):1929. doi: 10.1038/s41467-021-22117-z. Nat Commun. 2021. PMID: 33771987 Free PMC article.
Modeling disease mutations by gene targeting in one-cell mouse embryos.
Meyer M, Ortiz O, Hrabé de Angelis M, Wurst W, Kühn R. Meyer M, et al. Among authors: kuhn r. Proc Natl Acad Sci U S A. 2012 Jun 12;109(24):9354-9. doi: 10.1073/pnas.1121203109. Epub 2012 Jun 1. Proc Natl Acad Sci U S A. 2012. PMID: 22660928 Free PMC article.
1,395 results