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CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.
Panizzi JR, Becker-Heck A, Castleman VH, Al-Mutairi DA, Liu Y, Loges NT, Pathak N, Austin-Tse C, Sheridan E, Schmidts M, Olbrich H, Werner C, Häffner K, Hellman N, Chodhari R, Gupta A, Kramer-Zucker A, Olale F, Burdine RD, Schier AF, O'Callaghan C, Chung EM, Reinhardt R, Mitchison HM, King SM, Omran H, Drummond IA. Panizzi JR, et al. Nat Genet. 2012 May 13;44(6):714-9. doi: 10.1038/ng.2277. Nat Genet. 2012. PMID: 22581229 Free PMC article.
Polycystin-2 immunolocalization and function in zebrafish.
Obara T, Mangos S, Liu Y, Zhao J, Wiessner S, Kramer-Zucker AG, Olale F, Schier AF, Drummond IA. Obara T, et al. J Am Soc Nephrol. 2006 Oct;17(10):2706-18. doi: 10.1681/ASN.2006040412. Epub 2006 Aug 30. J Am Soc Nephrol. 2006. PMID: 16943304 Free PMC article.
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.
Hoff S, Halbritter J, Epting D, Frank V, Nguyen TM, van Reeuwijk J, Boehlke C, Schell C, Yasunaga T, Helmstädter M, Mergen M, Filhol E, Boldt K, Horn N, Ueffing M, Otto EA, Eisenberger T, Elting MW, van Wijk JA, Bockenhauer D, Sebire NJ, Rittig S, Vyberg M, Ring T, Pohl M, Pape L, Neuhaus TJ, Elshakhs NA, Koon SJ, Harris PC, Grahammer F, Huber TB, Kuehn EW, Kramer-Zucker A, Bolz HJ, Roepman R, Saunier S, Walz G, Hildebrandt F, Bergmann C, Lienkamp SS. Hoff S, et al. Nat Genet. 2013 Aug;45(8):951-6. doi: 10.1038/ng.2681. Epub 2013 Jun 23. Nat Genet. 2013. PMID: 23793029 Free PMC article.
The mitochondrial transporter SLC25A25 links ciliary TRPP2 signaling and cellular metabolism.
Hofherr A, Seger C, Fitzpatrick F, Busch T, Michel E, Luan J, Osterried L, Linden F, Kramer-Zucker A, Wakimoto B, Schütze C, Wiedemann N, Artati A, Adamski J, Walz G, Kunji ERS, Montell C, Watnick T, Köttgen M. Hofherr A, et al. Among authors: kramer zucker a. PLoS Biol. 2018 Aug 6;16(8):e2005651. doi: 10.1371/journal.pbio.2005651. eCollection 2018 Aug. PLoS Biol. 2018. PMID: 30080851 Free PMC article.
38 results