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PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.
Ebermann I, Phillips JB, Liebau MC, Koenekoop RK, Schermer B, Lopez I, Schäfer E, Roux AF, Dafinger C, Bernd A, Zrenner E, Claustres M, Blanco B, Nürnberg G, Nürnberg P, Ruland R, Westerfield M, Benzing T, Bolz HJ. Ebermann I, et al. Among authors: dafinger c. J Clin Invest. 2010 Jun;120(6):1812-23. doi: 10.1172/JCI39715. Epub 2010 May 3. J Clin Invest. 2010. PMID: 20440071 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. J Clin Invest. 2011 Jul;121(7):2662-7. doi: 10.1172/JCI43639. J Clin Invest. 2011. PMID: 21633164 Free PMC article.
Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3.
Eisenberger T, Slim R, Mansour A, Nauck M, Nürnberg G, Nürnberg P, Decker C, Dafinger C, Ebermann I, Bergmann C, Bolz HJ. Eisenberger T, et al. Among authors: dafinger c. Orphanet J Rare Dis. 2012 Sep 2;7:59. doi: 10.1186/1750-1172-7-59. Orphanet J Rare Dis. 2012. PMID: 22938382 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. Among authors: dafinger c. 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.
Inhibition of insulin/IGF-1 receptor signaling protects from mitochondria-mediated kidney failure.
Ising C, Koehler S, Brähler S, Merkwirth C, Höhne M, Baris OR, Hagmann H, Kann M, Fabretti F, Dafinger C, Bloch W, Schermer B, Linkermann A, Brüning JC, Kurschat CE, Müller RU, Wiesner RJ, Langer T, Benzing T, Brinkkoetter PT. Ising C, et al. Among authors: dafinger c. EMBO Mol Med. 2015 Mar;7(3):275-87. doi: 10.15252/emmm.201404916. EMBO Mol Med. 2015. PMID: 25643582 Free PMC article.
29 results