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http://purl.uniprot.org/cit... | rdfs: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: | lld:uniprot |
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http://purl.uniprot.org/cit... | uniprot:name | Dev. Cell | lld:uniprot |
http://purl.uniprot.org/cit... | uniprot:author | Wurst W. | lld:uniprot |
http://purl.uniprot.org/cit... | uniprot:author | Katsanis N. | lld:uniprot |
http://purl.uniprot.org/cit... | uniprot:author | Ueffing M. | lld:uniprot |
http://purl.uniprot.org/cit... | uniprot:author | Lickert H. | lld:uniprot |
http://purl.uniprot.org/cit... | uniprot:author | Attie-Bitach T. | lld:uniprot |
http://purl.uniprot.org/cit... | uniprot:author | Kinzel D. | lld:uniprot |
http://purl.uniprot.org/cit... | uniprot:author | Davis E.E. | lld:uniprot |
http://purl.uniprot.org/cit... | uniprot:author | Boldt K. | lld:uniprot |
http://purl.uniprot.org/cit... | uniprot:author | Burtscher I. | lld:uniprot |
http://purl.uniprot.org/cit... | uniprot:author | Trumbach D. | lld:uniprot |
http://purl.uniprot.org/cit... | uniprot:author | Diplas B. | lld:uniprot |
http://purl.uniprot.org/cit... | uniprot:date | 2010 | lld:uniprot |
http://purl.uniprot.org/cit... | uniprot:pages | 66-77 | lld:uniprot |
http://purl.uniprot.org/cit... | uniprot:title | Pitchfork regulates primary cilia disassembly and left-right asymmetry. | lld:uniprot |
http://purl.uniprot.org/cit... | uniprot:volume | 19 | lld:uniprot |
http://purl.uniprot.org/cit... | dc-term:identifier | doi:10.1016/j.devcel.2010.06.005 | lld:uniprot |
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