| http://purl.uniprot.org/citations/23300826 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23300826 | http://www.w3.org/2000/01/rdf-schema#comment | "Oral-facial-digital type I syndrome (OFDI) is a human X-linked dominant-male-lethal developmental disorder caused by mutations in the OFD1 gene. Similar to other inherited disorders associated to ciliary dysfunction OFD type I patients display neurological abnormalities. We characterized the neuronal phenotype that results from Ofd1 inactivation in early phases of mouse embryonic development and at post-natal stages. We determined that Ofd1 plays a crucial role in forebrain development, and in particular, in the control of dorso-ventral patterning and early corticogenesis. We observed abnormal activation of Sonic hedgehog (Shh), a major pathway modulating brain development. Ultrastructural studies demonstrated that early Ofd1 inactivation results in the absence of ciliary axonemes despite the presence of mature basal bodies that are correctly orientated and docked. Ofd1 inducible-mediated inactivation at birth does not affect ciliogenesis in the cortex, suggesting a developmental stage-dependent role for a basal body protein in ciliogenesis. Moreover, we showed defects in cytoskeletal organization and apical-basal polarity in Ofd1 mutant embryos, most likely due to lack of ciliary axonemes. Thus, the present study identifies Ofd1 as a developmental disease gene that is critical for forebrain development and ciliogenesis in embryonic life, and indicates that Ofd1 functions after docking and before elaboration of the axoneme in vivo."xsd:string |
| http://purl.uniprot.org/citations/23300826 | http://purl.org/dc/terms/identifier | "doi:10.1371/journal.pone.0052937"xsd:string |
| http://purl.uniprot.org/citations/23300826 | http://purl.uniprot.org/core/author | "Franco B."xsd:string |
| http://purl.uniprot.org/citations/23300826 | http://purl.uniprot.org/core/author | "D'Angelo A."xsd:string |
| http://purl.uniprot.org/citations/23300826 | http://purl.uniprot.org/core/author | "Tammaro R."xsd:string |
| http://purl.uniprot.org/citations/23300826 | http://purl.uniprot.org/core/author | "Studer M."xsd:string |
| http://purl.uniprot.org/citations/23300826 | http://purl.uniprot.org/core/author | "De Angelis A."xsd:string |
| http://purl.uniprot.org/citations/23300826 | http://purl.uniprot.org/core/author | "Avallone B."xsd:string |
| http://purl.uniprot.org/citations/23300826 | http://purl.uniprot.org/core/author | "Piscopo I."xsd:string |
| http://purl.uniprot.org/citations/23300826 | http://purl.uniprot.org/core/date | "2012"xsd:gYear |
| http://purl.uniprot.org/citations/23300826 | http://purl.uniprot.org/core/name | "PLoS One"xsd:string |
| http://purl.uniprot.org/citations/23300826 | http://purl.uniprot.org/core/pages | "e52937"xsd:string |
| http://purl.uniprot.org/citations/23300826 | http://purl.uniprot.org/core/title | "Ofd1 controls dorso-ventral patterning and axoneme elongation during embryonic brain development."xsd:string |
| http://purl.uniprot.org/citations/23300826 | http://purl.uniprot.org/core/volume | "7"xsd:string |
| http://purl.uniprot.org/citations/23300826 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/23300826 |
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