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NEK1 mutations cause short-rib polydactyly syndrome type majewski.
Thiel C, Kessler K, Giessl A, Dimmler A, Shalev SA, von der Haar S, Zenker M, Zahnleiter D, Stöss H, Beinder E, Abou Jamra R, Ekici AB, Schröder-Kress N, Aigner T, Kirchner T, Reis A, Brandstätter JH, Rauch A. Thiel C, et al. Among authors: giessl a. Am J Hum Genet. 2011 Jan 7;88(1):106-14. doi: 10.1016/j.ajhg.2010.12.004. Am J Hum Genet. 2011. PMID: 21211617 Free PMC article.
Enrichment, Characterization, and Proteomic Profiling of Small Extracellular Vesicles Derived from Human Limbal Mesenchymal Stromal Cells and Melanocytes.
Kistenmacher S, Schwämmle M, Martin G, Ulrich E, Tholen S, Schilling O, Gießl A, Schlötzer-Schrehardt U, Bucher F, Schlunck G, Nazarenko I, Reinhard T, Polisetti N. Kistenmacher S, et al. Among authors: giessl a. Cells. 2024 Apr 4;13(7):623. doi: 10.3390/cells13070623. Cells. 2024. PMID: 38607062 Free PMC article.
DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects.
Kessler K, Wunderlich I, Uebe S, Falk NS, Gießl A, Brandstätter JH, Popp B, Klinger P, Ekici AB, Sticht H, Dörr HG, Reis A, Roepman R, Seemanová E, Thiel CT. Kessler K, et al. Among authors: giessl a. Sci Rep. 2015 Jul 1;5:11649. doi: 10.1038/srep11649. Sci Rep. 2015. PMID: 26130459 Free PMC article.
Functional analyses of Pericentrin and Syne-2 interaction in ciliogenesis.
Falk N, Kessler K, Schramm SF, Boldt K, Becirovic E, Michalakis S, Regus-Leidig H, Noegel AA, Ueffing M, Thiel CT, Roepman R, Brandstätter JH, Gießl A. Falk N, et al. Among authors: giessl a. J Cell Sci. 2018 Aug 17;131(16):jcs218487. doi: 10.1242/jcs.218487. J Cell Sci. 2018. PMID: 30054381
62 results