Article
MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia.
Nature communications - 22 Jul 2014
Boon Mieke, Wallmeier Julia, Ma Lina, Loges Niki Tomas, Jaspers Martine, Olbrich Heike, Dougherty Gerard W, Raidt Johanna, Werner Claudius, Amirav Israel, Hevroni Avigdor, Abitbul Revital, Avital Avraham, Soferman Ruth, Wessels Marja, O'Callaghan Christopher, Chung Eddie M K, Rutman Andrew, Hirst Robert A, Moya Eduardo, Mitchison Hannah M, Van Daele Sabine, De Boeck Kris, Jorissen Mark, Kintner Chris, Cuppens Harry, Omran Heymut
Abstract excerpt
Reduced generation of multiple motile cilia (RGMC) is a rare mucociliary clearance disorder. Affected persons suffer from recurrent infections of upper and lower airways because of highly reduced numbers of multiple motile respiratory cilia. Here we report recessive loss-of-function and missense mutations in MCIDAS-encoding Multicilin, which was shown to promote the early steps of multiciliated cell...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.