A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet–Biedl syndrome
Patrick Lorès, Zine‐Eddine Kherraf, Amir Amiri‐Yekta, Marjorie Whitfield, Abbas Daneshipour, Laurence Stouvenel, Caroline Cazin, Emma Cavarocchi, Charles Coutton, Marie‐Astrid Llabador, Christophe Arnoult, Nicolas Thierry‐Mieg, Lucile Ferreux, Catherine Patrat, Seyedeh‐Hanieh Hosseini, Sélima Fourati Ben Mustapha, Raoudha Zouari, Emmanuel Dulioust, Pierre F. Ray, Aminata Touré
Topics & Concepts
Intraflagellar transportCiliumAxonemeCiliogenesisMissense mutationBiologyCiliopathiesBardet–Biedl syndromeGeneticsFlagellumCiliopathyAsthenozoospermiaCell biologyDyneinMicrotubulePhenotypeMale infertilityInfertilityGenePregnancyGenetic and Kidney Cyst DiseasesRenal and related cancersGenetic Syndromes and Imprinting