| http://purl.uniprot.org/citations/20643351 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/20643351 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/20643351 | http://www.w3.org/2000/01/rdf-schema#comment | "A variety of developmental disorders have been associated with ciliary defects, yet the controls that govern cilia disassembly are largely unknown. Here we report a mouse embryonic node gene, which we named Pitchfork (Pifo). Pifo associates with ciliary targeting complexes and accumulates at the basal body during cilia disassembly. Haploinsufficiency causes a unique node cilia duplication phenotype, left-right asymmetry defects, and heart failure. This phenotype is likely relevant in humans, because we identified a heterozygous R80K PIFO mutation in a fetus with situs inversus and cystic liver and kidneys, and in patient with double-outflow right ventricle. We show that PIFO, but not R80K PIFO, is sufficient to activate Aurora A, a protooncogenic kinase that induces cilia retraction, and that Pifo/PIFO mutation causes cilia retraction, basal body liberation, and overreplication defects. Thus, the observation of a disassembly phenotype in vivo provides an entry point to understand and categorize ciliary disease. AUTHOR AUDIO:"xsd:string |
| http://purl.uniprot.org/citations/20643351 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.devcel.2010.06.005"xsd:string |
| http://purl.uniprot.org/citations/20643351 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.devcel.2010.06.005"xsd:string |
| http://purl.uniprot.org/citations/20643351 | http://purl.uniprot.org/core/author | "Boldt K."xsd:string |
| http://purl.uniprot.org/citations/20643351 | http://purl.uniprot.org/core/author | "Boldt K."xsd:string |
| http://purl.uniprot.org/citations/20643351 | http://purl.uniprot.org/core/author | "Burtscher I."xsd:string |
| http://purl.uniprot.org/citations/20643351 | http://purl.uniprot.org/core/author | "Burtscher I."xsd:string |
| http://purl.uniprot.org/citations/20643351 | http://purl.uniprot.org/core/author | "Lickert H."xsd:string |
| http://purl.uniprot.org/citations/20643351 | http://purl.uniprot.org/core/author | "Lickert H."xsd:string |
| http://purl.uniprot.org/citations/20643351 | http://purl.uniprot.org/core/author | "Wurst W."xsd:string |
| http://purl.uniprot.org/citations/20643351 | http://purl.uniprot.org/core/author | "Wurst W."xsd:string |
| http://purl.uniprot.org/citations/20643351 | http://purl.uniprot.org/core/author | "Attie-Bitach T."xsd:string |
| http://purl.uniprot.org/citations/20643351 | http://purl.uniprot.org/core/author | "Attie-Bitach T."xsd:string |
| http://purl.uniprot.org/citations/20643351 | http://purl.uniprot.org/core/author | "Katsanis N."xsd:string |
| http://purl.uniprot.org/citations/20643351 | http://purl.uniprot.org/core/author | "Katsanis N."xsd:string |
| http://purl.uniprot.org/citations/20643351 | http://purl.uniprot.org/core/author | "Ueffing M."xsd:string |
| http://purl.uniprot.org/citations/20643351 | http://purl.uniprot.org/core/author | "Ueffing M."xsd:string |
| http://purl.uniprot.org/citations/20643351 | http://purl.uniprot.org/core/author | "Davis E.E."xsd:string |
| http://purl.uniprot.org/citations/20643351 | http://purl.uniprot.org/core/author | "Davis E.E."xsd:string |
| http://purl.uniprot.org/citations/20643351 | http://purl.uniprot.org/core/author | "Diplas B."xsd:string |
| http://purl.uniprot.org/citations/20643351 | http://purl.uniprot.org/core/author | "Diplas B."xsd:string |
| http://purl.uniprot.org/citations/20643351 | http://purl.uniprot.org/core/author | "Kinzel D."xsd:string |
| http://purl.uniprot.org/citations/20643351 | http://purl.uniprot.org/core/author | "Kinzel D."xsd:string |