Article
DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm.
American journal of human genetics - 1 Nov 2008
Loges Niki Tomas, Olbrich Heike, Fenske Lale, Mussaffi Huda, Horvath Judit, Fliegauf Manfred, Kuhl Heiner, Baktai Gyorgy, Peterffy Erzsebet, Chodhari Rahul, Chung Eddie M K, Rutman Andrew, O'Callaghan Christopher, Blau Hannah, Tiszlavicz Laszlo, Voelkel Katarzyna, Witt Michal, Zietkiewicz Ewa, Neesen Juergen, Reinhardt Richard, Mitchison Hannah M, Omran Heymut
Abstract excerpt
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder characterized by chronic destructive airway disease and randomization of left/right body asymmetry. Males often have reduced fertility due to impaired sperm tail function. The complex PCD phenotype results from dysfunction of cilia of the airways and the embryonic node and the structurally related motile sperm flagella. This is associated...
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