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Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.
Austin-Tse C, Halbritter J, Zariwala MA, Gilberti RM, Gee HY, Hellman N, Pathak N, Liu Y, Panizzi JR, Patel-King RS, Tritschler D, Bower R, O'Toole E, Porath JD, Hurd TW, Chaki M, Diaz KA, Kohl S, Lovric S, Hwang DY, Braun DA, Schueler M, Airik R, Otto EA, Leigh MW, Noone PG, Carson JL, Davis SD, Pittman JE, Ferkol TW, Atkinson JJ, Olivier KN, Sagel SD, Dell SD, Rosenfeld M, Milla CE, Loges NT, Omran H, Porter ME, King SM, Knowles MR, Drummond IA, Hildebrandt F. Austin-Tse C, et al. Among authors: tritschler d. Am J Hum Genet. 2013 Oct 3;93(4):672-86. doi: 10.1016/j.ajhg.2013.08.015. Am J Hum Genet. 2013. PMID: 24094744 Free PMC article.
The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans.
Wirschell M, Olbrich H, Werner C, Tritschler D, Bower R, Sale WS, Loges NT, Pennekamp P, Lindberg S, Stenram U, Carlén B, Horak E, Köhler G, Nürnberg P, Nürnberg G, Porter ME, Omran H. Wirschell M, et al. Among authors: tritschler d. Nat Genet. 2013 Mar;45(3):262-8. doi: 10.1038/ng.2533. Epub 2013 Jan 27. Nat Genet. 2013. PMID: 23354437 Free PMC article.
A differential cargo-loading model of ciliary length regulation by IFT.
Wren KN, Craft JM, Tritschler D, Schauer A, Patel DK, Smith EF, Porter ME, Kner P, Lechtreck KF. Wren KN, et al. Among authors: tritschler d. Curr Biol. 2013 Dec 16;23(24):2463-71. doi: 10.1016/j.cub.2013.10.044. Epub 2013 Dec 5. Curr Biol. 2013. PMID: 24316207 Free PMC article.
Mutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human Disease.
Lewis WR, Malarkey EB, Tritschler D, Bower R, Pasek RC, Porath JD, Birket SE, Saunier S, Antignac C, Knowles MR, Leigh MW, Zariwala MA, Challa AK, Kesterson RA, Rowe SM, Drummond IA, Parant JM, Hildebrandt F, Porter ME, Yoder BK, Berbari NF. Lewis WR, et al. Among authors: tritschler d. PLoS Genet. 2016 Jul 29;12(7):e1006220. doi: 10.1371/journal.pgen.1006220. eCollection 2016 Jul. PLoS Genet. 2016. PMID: 27472056 Free PMC article.
20 results