Article
CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.
Nature genetics - 13 May 2012
Panizzi Jennifer R, Becker-Heck Anita, Castleman Victoria H, Al-Mutairi Dalal A, Liu Yan, Loges Niki T, Pathak Narendra, Austin-Tse Christina, Sheridan Eamonn, Schmidts Miriam, Olbrich Heike, Werner Claudius, Häffner Karsten, Hellman Nathan, Chodhari Rahul, Gupta Amar, Kramer-Zucker Albrecht, Olale Felix, Burdine Rebecca D, Schier Alexander F, O'Callaghan Christopher, Chung Eddie M K, Reinhardt Richard, Mitchison Hannah M, King Stephen M, Omran Heymut, Drummond Iain A
Abstract excerpt
Cilia are essential for fertilization, respiratory clearance, cerebrospinal fluid circulation and establishing laterality. Cilia motility defects cause primary ciliary dyskinesia (PCD, MIM244400), a disorder affecting 1:15,000-30,000 births. Cilia motility requires the assembly of multisubunit dynein arms that drive ciliary bending. Despite progress in understanding the genetic basis of PCD, mutations remain to...
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