Article
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.
Nature genetics - 1 Jan 2011
Merveille Anne-Christine, Davis Erica E, Becker-Heck Anita, Legendre Marie, Amirav Israel, Bataille Géraldine, Belmont John, Beydon Nicole, Billen Frédéric, Clément Annick, Clercx Cécile, Coste André, Crosbie Rachelle, de Blic Jacques, Deleuze Stephane, Duquesnoy Philippe, Escalier Denise, Escudier Estelle, Fliegauf Manfred, Horvath Judith, Hill Kent, Jorissen Mark, Just Jocelyne, Kispert Andreas, Lathrop Mark, Loges Niki Tomas, Marthin June K, Momozawa Yukihide, Montantin Guy, Nielsen Kim G, Olbrich Heike, Papon Jean-François, Rayet Isabelle, Roger Gilles, Schmidts Miriam, Tenreiro Henrique, Towbin Jeffrey A, Zelenika Diana, Zentgraf Hanswalter, Georges Michel, Lequarré Anne-Sophie, Katsanis Nicholas, Omran Heymut, Amselem Serge
Abstract excerpt
Primary ciliary dyskinesia (PCD) is an inherited disorder characterized by recurrent infections of the upper and lower respiratory tract, reduced fertility in males and situs inversus in about 50% of affected individuals (Kartagener syndrome). It is caused by motility defects in the respiratory cilia that are responsible for airway clearance, the flagella that propel sperm cells and the nodal monocilia that...
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