Ontology highlight
ABSTRACT:
SUBMITTER: Onoufriadis A
PROVIDER: S-EPMC3542455 | biostudies-literature | 2013 Jan
REPOSITORIES: biostudies-literature
Onoufriadis Alexandros A Paff Tamara T Antony Dinu D Shoemark Amelia A Micha Dimitra D Kuyt Bertus B Schmidts Miriam M Petridi Stavroula S Dankert-Roelse Jeanette E JE Haarman Eric G EG Daniels Johannes M A JM Emes Richard D RD Wilson Robert R Hogg Claire C Scambler Peter J PJ Chung Eddie M K EM Pals Gerard G Mitchison Hannah M HM
American journal of human genetics 20121220 1
Defects in motile cilia and sperm flagella cause primary ciliary dyskinesia (PCD), characterized by chronic airway disease, infertility, and left-right laterality disturbances, usually as a result of loss of the outer dynein arms (ODAs) that power cilia/flagella beating. Here, we identify loss-of-function mutations in CCDC114 causing PCD with laterality malformations involving complex heart defects. CCDC114 is homologous to DCC2, an ODA microtubule-docking complex component of the biflagellate a ...[more]