Ontology highlight
ABSTRACT:
SUBMITTER: Rachel RA
PROVIDER: S-EPMC3314468 | biostudies-literature | 2012 Apr
REPOSITORIES: biostudies-literature
Rachel Rivka A RA May-Simera Helen L HL Veleri Shobi S Gotoh Norimoto N Choi Byung Yoon BY Murga-Zamalloa Carlos C McIntyre Jeremy C JC Marek Jonah J Lopez Irma I Hackett Alice N AN Zhang Jun J Brooks Matthew M den Hollander Anneke I AI Beales Philip L PL Li Tiansen T Jacobson Samuel G SG Sood Raman R Martens Jeffrey R JR Liu Paul P Friedman Thomas B TB Khanna Hemant H Koenekoop Robert K RK Kelley Matthew W MW Swaroop Anand A
The Journal of clinical investigation 20120326 4
Cilia are highly specialized microtubule-based organelles that have pivotal roles in numerous biological processes, including transducing sensory signals. Defects in cilia biogenesis and transport cause pleiotropic human ciliopathies. Mutations in over 30 different genes can lead to cilia defects, and complex interactions exist among ciliopathy-associated proteins. Mutations of the centrosomal protein 290 kDa (CEP290) lead to distinct clinical manifestations, including Leber congenital amaurosis ...[more]