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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. Among authors: olale f. 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. Among authors: olale f. 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.
11 results