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The analysis of heterotaxy patients reveals new loss-of-function variants of GRK5.
Lessel D, Muhammad T, Casar Tena T, Moepps B, Burkhalter MD, Hitz MP, Toka O, Rentzsch A, Schubert S, Schalinski A, Bauer UM, Kubisch C, Ware SM, Philipp M. Lessel D, et al. Among authors: philipp m. Sci Rep. 2016 Sep 13;6:33231. doi: 10.1038/srep33231. Sci Rep. 2016. PMID: 27618959 Free PMC article.
Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features.
Lessel D, Vaz B, Halder S, Lockhart PJ, Marinovic-Terzic I, Lopez-Mosqueda J, Philipp M, Sim JC, Smith KR, Oehler J, Cabrera E, Freire R, Pope K, Nahid A, Norris F, Leventer RJ, Delatycki MB, Barbi G, von Ameln S, Högel J, Degoricija M, Fertig R, Burkhalter MD, Hofmann K, Thiele H, Altmüller J, Nürnberg G, Nürnberg P, Bahlo M, Martin GM, Aalfs CM, Oshima J, Terzic J, Amor DJ, Dikic I, Ramadan K, Kubisch C. Lessel D, et al. Among authors: philipp m. Nat Genet. 2014 Nov;46(11):1239-44. doi: 10.1038/ng.3103. Epub 2014 Sep 28. Nat Genet. 2014. PMID: 25261934 Free PMC article.
ATR promotes cilia signalling: links to developmental impacts.
Stiff T, Casar Tena T, O'Driscoll M, Jeggo PA, Philipp M. Stiff T, et al. Among authors: philipp m. Hum Mol Genet. 2016 Apr 15;25(8):1574-87. doi: 10.1093/hmg/ddw034. Epub 2016 Feb 11. Hum Mol Genet. 2016. PMID: 26908596 Free PMC article.
Resting cells rely on the DNA helicase component MCM2 to build cilia.
Casar Tena T, Maerz LD, Szafranski K, Groth M, Blätte TJ, Donow C, Matysik S, Walther P, Jeggo PA, Burkhalter MD, Philipp M. Casar Tena T, et al. Among authors: philipp m. Nucleic Acids Res. 2019 Jan 10;47(1):134-151. doi: 10.1093/nar/gky945. Nucleic Acids Res. 2019. PMID: 30329080 Free PMC article.
458 results