Article
Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia.
American journal of human genetics - 1 Dec 2009
Duquesnoy Philippe, Escudier Estelle, Vincensini Laetitia, Freshour Judy, Bridoux Anne-Marie, Coste André, Deschildre Antoine, de Blic Jacques, Legendre Marie, Montantin Guy, Tenreiro Henrique, Vojtek Anne-Marie, Loussert Céline, Clément Annick, Escalier Denise, Bastin Philippe, Mitchell David R, Amselem Serge
Abstract excerpt
Cilia and flagella are evolutionarily conserved structures that play various physiological roles in diverse cell types. Defects in motile cilia result in primary ciliary dyskinesia (PCD), the most prominent ciliopathy, characterized by the association of respiratory symptoms, male infertility, and, in nearly 50% of cases, situs inversus. So far, most identified disease-causing mutations involve genes encoding...
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