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Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.
Chaki M, Airik R, Ghosh AK, Giles RH, Chen R, Slaats GG, Wang H, Hurd TW, Zhou W, Cluckey A, Gee HY, Ramaswami G, Hong CJ, Hamilton BA, Cervenka I, Ganji RS, Bryja V, Arts HH, van Reeuwijk J, Oud MM, Letteboer SJ, Roepman R, Husson H, Ibraghimov-Beskrovnaya O, Yasunaga T, Walz G, Eley L, Sayer JA, Schermer B, Liebau MC, Benzing T, Le Corre S, Drummond I, Janssen S, Allen SJ, Natarajan S, O'Toole JF, Attanasio M, Saunier S, Antignac C, Koenekoop RK, Ren H, Lopez I, Nayir A, Stoetzel C, Dollfus H, Massoudi R, Gleeson JG, Andreoli SP, Doherty DG, Lindstrad A, Golzio C, Katsanis N, Pape L, Abboud EB, Al-Rajhi AA, Lewis RA, Omran H, Lee EY, Wang S, Sekiguchi JM, Saunders R, Johnson CA, Garner E, Vanselow K, Andersen JS, Shlomai J, Nurnberg G, Nurnberg P, Levy S, Smogorzewska A, Otto EA, Hildebrandt F. Chaki M, et al. Among authors: liebau mc. Cell. 2012 Aug 3;150(3):533-48. doi: 10.1016/j.cell.2012.06.028. Cell. 2012. PMID: 22863007 Free PMC article.
NPHP4, a cilia-associated protein, negatively regulates the Hippo pathway.
Habbig S, Bartram MP, Müller RU, Schwarz R, Andriopoulos N, Chen S, Sägmüller JG, Hoehne M, Burst V, Liebau MC, Reinhardt HC, Benzing T, Schermer B. Habbig S, et al. Among authors: liebau mc. J Cell Biol. 2011 May 16;193(4):633-42. doi: 10.1083/jcb.201009069. Epub 2011 May 9. J Cell Biol. 2011. PMID: 21555462 Free PMC article.
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.
Dafinger C, Liebau MC, Elsayed SM, Hellenbroich Y, Boltshauser E, Korenke GC, Fabretti F, Janecke AR, Ebermann I, Nürnberg G, Nürnberg P, Zentgraf H, Koerber F, Addicks K, Elsobky E, Benzing T, Schermer B, Bolz HJ. Dafinger C, et al. Among authors: liebau mc. J Clin Invest. 2011 Jul;121(7):2662-7. doi: 10.1172/JCI43639. J Clin Invest. 2011. PMID: 21633164 Free PMC article.
[Recent developments in genetic kidney diseases].
Liebau MC, Benzing T. Liebau MC, et al. Dtsch Med Wochenschr. 2011 May;136(19):1014-20. doi: 10.1055/s-0031-1275836. Epub 2011 May 3. Dtsch Med Wochenschr. 2011. PMID: 21544793 Review. German.
Targeted deletion of the AAA-ATPase Ruvbl1 in mice disrupts ciliary integrity and causes renal disease and hydrocephalus.
Dafinger C, Rinschen MM, Borgal L, Ehrenberg C, Basten SG, Franke M, Höhne M, Rauh M, Göbel H, Bloch W, Wunderlich FT, Peters DJM, Tasche D, Mishra T, Habbig S, Dötsch J, Müller RU, Brüning JC, Persigehl T, Giles RH, Benzing T, Schermer B, Liebau MC. Dafinger C, et al. Among authors: liebau mc. Exp Mol Med. 2018 Jun 28;50(6):1-17. doi: 10.1038/s12276-018-0108-z. Exp Mol Med. 2018. PMID: 29959317 Free PMC article.
Nephrocystin-4 regulates Pyk2-induced tyrosine phosphorylation of nephrocystin-1 to control targeting to monocilia.
Liebau MC, Höpker K, Müller RU, Schmedding I, Zank S, Schairer B, Fabretti F, Höhne M, Bartram MP, Dafinger C, Hackl M, Burst V, Habbig S, Zentgraf H, Blaukat A, Walz G, Benzing T, Schermer B. Liebau MC, et al. J Biol Chem. 2011 Apr 22;286(16):14237-45. doi: 10.1074/jbc.M110.165464. Epub 2011 Feb 28. J Biol Chem. 2011. PMID: 21357692 Free PMC article.
95 results