| http://purl.uniprot.org/citations/24947469 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/24947469 | http://www.w3.org/2000/01/rdf-schema#comment | "The primary cilium originates from the mother centriole and participates in critical functions during organogenesis. Defects in cilia biogenesis or function lead to pleiotropic phenotypes. Mutations in centrosome-cilia gene CC2D2A result in Meckel and Joubert syndromes. Here we generate a Cc2d2a(-/-) mouse that recapitulates features of Meckel syndrome including embryonic lethality and multiorgan defects. Cilia are absent in Cc2d2a(-/-) embryonic node and other somatic tissues; disruption of cilia-dependent Shh signalling appears to underlie exencephaly in mutant embryos. The Cc2d2a(-/-) mouse embryonic fibroblasts (MEFs) lack cilia, although mother centrioles and pericentriolar proteins are detected. Odf2, associated with subdistal appendages, is absent and ninein is reduced in mutant MEFs. In Cc2d2a(-/-) MEFs, subdistal appendages are lacking or abnormal by transmission electron microscopy. Consistent with this, CC2D2A localizes to subdistal appendages by immuno-EM in wild-type cells. We conclude that CC2D2A is essential for the assembly of subdistal appendages, which anchor cytoplasmic microtubules and prime the mother centriole for axoneme biogenesis."xsd:string |
| http://purl.uniprot.org/citations/24947469 | http://purl.org/dc/terms/identifier | "doi:10.1038/ncomms5207"xsd:string |
| http://purl.uniprot.org/citations/24947469 | http://purl.uniprot.org/core/author | "Dong L."xsd:string |
| http://purl.uniprot.org/citations/24947469 | http://purl.uniprot.org/core/author | "Gao C."xsd:string |
| http://purl.uniprot.org/citations/24947469 | http://purl.uniprot.org/core/author | "Li T."xsd:string |
| http://purl.uniprot.org/citations/24947469 | http://purl.uniprot.org/core/author | "Liu P."xsd:string |
| http://purl.uniprot.org/citations/24947469 | http://purl.uniprot.org/core/author | "Nagashima K."xsd:string |
| http://purl.uniprot.org/citations/24947469 | http://purl.uniprot.org/core/author | "Fariss R.N."xsd:string |
| http://purl.uniprot.org/citations/24947469 | http://purl.uniprot.org/core/author | "May-Simera H."xsd:string |
| http://purl.uniprot.org/citations/24947469 | http://purl.uniprot.org/core/author | "Brooks M."xsd:string |
| http://purl.uniprot.org/citations/24947469 | http://purl.uniprot.org/core/author | "Swaroop A."xsd:string |
| http://purl.uniprot.org/citations/24947469 | http://purl.uniprot.org/core/author | "Rachel R.A."xsd:string |
| http://purl.uniprot.org/citations/24947469 | http://purl.uniprot.org/core/author | "Manjunath S.H."xsd:string |
| http://purl.uniprot.org/citations/24947469 | http://purl.uniprot.org/core/author | "Veleri S."xsd:string |
| http://purl.uniprot.org/citations/24947469 | http://purl.uniprot.org/core/author | "Foskett T.A."xsd:string |
| http://purl.uniprot.org/citations/24947469 | http://purl.uniprot.org/core/author | "Longo T.A."xsd:string |
| http://purl.uniprot.org/citations/24947469 | http://purl.uniprot.org/core/date | "2014"xsd:gYear |
| http://purl.uniprot.org/citations/24947469 | http://purl.uniprot.org/core/name | "Nat Commun"xsd:string |
| http://purl.uniprot.org/citations/24947469 | http://purl.uniprot.org/core/pages | "4207"xsd:string |
| http://purl.uniprot.org/citations/24947469 | http://purl.uniprot.org/core/title | "Ciliopathy-associated gene Cc2d2a promotes assembly of subdistal appendages on the mother centriole during cilia biogenesis."xsd:string |
| http://purl.uniprot.org/citations/24947469 | http://purl.uniprot.org/core/volume | "5"xsd:string |
| http://purl.uniprot.org/citations/24947469 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/24947469 |
| http://purl.uniprot.org/citations/24947469 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/24947469 |
| http://purl.uniprot.org/uniprot/Q8CFW7#attribution-34D214E1537BF7718CF454296825AB16 | http://purl.uniprot.org/core/source | http://purl.uniprot.org/citations/24947469 |