| http://purl.uniprot.org/citations/25642776 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/25642776 | http://www.w3.org/2000/01/rdf-schema#comment | "Idiopathic scoliosis (IS) is a spine deformity that affects approximately 3% of the population. The underlying causes of IS are not well understood, although there is clear evidence that there is a genetic component to the disease. Genetic mapping studies suggest high genetic heterogeneity, but no IS disease-causing gene has yet been identified. Here, genetic linkage analyses combined with exome sequencing identified a rare missense variant (p.A446T) in the centriolar protein gene POC5 that cosegregated with the disease in a large family with multiple members affected with IS. Subsequently, the p.A446T variant was found in an additional set of families with IS and in an additional 3 cases of IS. Moreover, POC5 variant p.A455P was present and linked to IS in one family and another rare POC5 variant (p.A429V) was identified in an additional 5 cases of IS. In a zebrafish model, expression of any of the 3 human IS-associated POC5 variant mRNAs resulted in spine deformity, without affecting other skeletal structures. Together, these findings indicate that mutations in the POC5 gene contribute to the occurrence of IS."xsd:string |
| http://purl.uniprot.org/citations/25642776 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci77262"xsd:string |
| http://purl.uniprot.org/citations/25642776 | http://purl.uniprot.org/core/author | "Liao M."xsd:string |
| http://purl.uniprot.org/citations/25642776 | http://purl.uniprot.org/core/author | "Rouleau G.A."xsd:string |
| http://purl.uniprot.org/citations/25642776 | http://purl.uniprot.org/core/author | "Clerget-Darpoux F."xsd:string |
| http://purl.uniprot.org/citations/25642776 | http://purl.uniprot.org/core/author | "Lesca G."xsd:string |
| http://purl.uniprot.org/citations/25642776 | http://purl.uniprot.org/core/author | "Menassa R."xsd:string |
| http://purl.uniprot.org/citations/25642776 | http://purl.uniprot.org/core/author | "Edery P."xsd:string |
| http://purl.uniprot.org/citations/25642776 | http://purl.uniprot.org/core/author | "Labalme A."xsd:string |
| http://purl.uniprot.org/citations/25642776 | http://purl.uniprot.org/core/author | "Sanlaville D."xsd:string |
| http://purl.uniprot.org/citations/25642776 | http://purl.uniprot.org/core/author | "Berard J."xsd:string |
| http://purl.uniprot.org/citations/25642776 | http://purl.uniprot.org/core/author | "Poizat C."xsd:string |
| http://purl.uniprot.org/citations/25642776 | http://purl.uniprot.org/core/author | "Drapeau P."xsd:string |
| http://purl.uniprot.org/citations/25642776 | http://purl.uniprot.org/core/author | "Letexier M."xsd:string |
| http://purl.uniprot.org/citations/25642776 | http://purl.uniprot.org/core/author | "Alix E."xsd:string |
| http://purl.uniprot.org/citations/25642776 | http://purl.uniprot.org/core/author | "Girard S.L."xsd:string |
| http://purl.uniprot.org/citations/25642776 | http://purl.uniprot.org/core/author | "Besson A."xsd:string |
| http://purl.uniprot.org/citations/25642776 | http://purl.uniprot.org/core/author | "Patten S.A."xsd:string |
| http://purl.uniprot.org/citations/25642776 | http://purl.uniprot.org/core/author | "Moldovan F."xsd:string |
| http://purl.uniprot.org/citations/25642776 | http://purl.uniprot.org/core/author | "Marcaillou C."xsd:string |
| http://purl.uniprot.org/citations/25642776 | http://purl.uniprot.org/core/author | "Margaritte-Jeannin P."xsd:string |
| http://purl.uniprot.org/citations/25642776 | http://purl.uniprot.org/core/author | "Zaouter C."xsd:string |
| http://purl.uniprot.org/citations/25642776 | http://purl.uniprot.org/core/author | "Lamy R."xsd:string |
| http://purl.uniprot.org/citations/25642776 | http://purl.uniprot.org/core/author | "Abelin-Genevois K."xsd:string |