Ontology highlight
ABSTRACT:
SUBMITTER: El Khouri E
PROVIDER: S-EPMC4974111 | biostudies-literature | 2016 Aug
REPOSITORIES: biostudies-literature
El Khouri Elma E Thomas Lucie L Jeanson Ludovic L Bequignon Emilie E Vallette Benoit B Duquesnoy Philippe P Montantin Guy G Copin Bruno B Dastot-Le Moal Florence F Blanchon Sylvain S Papon Jean François JF Lorès Patrick P Yuan Li L Collot Nathalie N Tissier Sylvie S Faucon Catherine C Gacon Gérard G Patrat Catherine C Wolf Jean Philippe JP Dulioust Emmanuel E Crestani Bruno B Escudier Estelle E Coste André A Legendre Marie M Touré Aminata A Amselem Serge S
American journal of human genetics 20160801 2
Primary ciliary dyskinesia (PCD) is an autosomal-recessive disease due to functional or ultra-structural defects of motile cilia. Affected individuals display recurrent respiratory-tract infections; most males are infertile as a result of sperm flagellar dysfunction. The great majority of the PCD-associated genes identified so far encode either components of dynein arms (DAs), which are multiprotein-ATPase complexes essential for ciliary motility, or proteins involved in DA assembly. To identify ...[more]