| http://purl.uniprot.org/citations/23200863 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23200863 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23200863 | http://www.w3.org/2000/01/rdf-schema#comment | "In this study, we combined linkage analysis with whole-exome sequencing of two individuals to identify candidate causal variants in a moderately-sized UK kindred exhibiting autosomal-dominant inheritance of craniocervical dystonia. Subsequent screening of these candidate causal variants in a large number of familial and sporadic cases of cervical dystonia led to the identification of a total of six putatively pathogenic mutations in ANO3, a gene encoding a predicted Ca(2+)-gated chloride channel that we show to be highly expressed in the striatum. Functional studies using Ca(2+) imaging in case and control fibroblasts demonstrated clear abnormalities in endoplasmic-reticulum-dependent Ca(2+) signaling. We conclude that mutations in ANO3 are a cause of autosomal-dominant craniocervical dystonia. The locus DYT23 has been reserved as a synonym for this gene. The implication of an ion channel in the pathogenesis of dystonia provides insights into an alternative mechanism that opens fresh avenues for further research."xsd:string |
| http://purl.uniprot.org/citations/23200863 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2012.10.024"xsd:string |
| http://purl.uniprot.org/citations/23200863 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2012.10.024"xsd:string |
| http://purl.uniprot.org/citations/23200863 | http://purl.uniprot.org/core/author | "Bras J."xsd:string |
| http://purl.uniprot.org/citations/23200863 | http://purl.uniprot.org/core/author | "Bras J."xsd:string |
| http://purl.uniprot.org/citations/23200863 | http://purl.uniprot.org/core/author | "Ryten M."xsd:string |
| http://purl.uniprot.org/citations/23200863 | http://purl.uniprot.org/core/author | "Ryten M."xsd:string |
| http://purl.uniprot.org/citations/23200863 | http://purl.uniprot.org/core/author | "Trabzuni D."xsd:string |
| http://purl.uniprot.org/citations/23200863 | http://purl.uniprot.org/core/author | "Trabzuni D."xsd:string |
| http://purl.uniprot.org/citations/23200863 | http://purl.uniprot.org/core/author | "Plagnol V."xsd:string |
| http://purl.uniprot.org/citations/23200863 | http://purl.uniprot.org/core/author | "Plagnol V."xsd:string |
| http://purl.uniprot.org/citations/23200863 | http://purl.uniprot.org/core/author | "Bhatia K.P."xsd:string |
| http://purl.uniprot.org/citations/23200863 | http://purl.uniprot.org/core/author | "Bhatia K.P."xsd:string |
| http://purl.uniprot.org/citations/23200863 | http://purl.uniprot.org/core/author | "Stamelou M."xsd:string |
| http://purl.uniprot.org/citations/23200863 | http://purl.uniprot.org/core/author | "Stamelou M."xsd:string |
| http://purl.uniprot.org/citations/23200863 | http://purl.uniprot.org/core/author | "Wood N.W."xsd:string |
| http://purl.uniprot.org/citations/23200863 | http://purl.uniprot.org/core/author | "Wood N.W."xsd:string |
| http://purl.uniprot.org/citations/23200863 | http://purl.uniprot.org/core/author | "Abramov A.Y."xsd:string |
| http://purl.uniprot.org/citations/23200863 | http://purl.uniprot.org/core/author | "Abramov A.Y."xsd:string |
| http://purl.uniprot.org/citations/23200863 | http://purl.uniprot.org/core/author | "Charlesworth G."xsd:string |
| http://purl.uniprot.org/citations/23200863 | http://purl.uniprot.org/core/author | "Charlesworth G."xsd:string |
| http://purl.uniprot.org/citations/23200863 | http://purl.uniprot.org/core/author | "Holmstroem K.M."xsd:string |
| http://purl.uniprot.org/citations/23200863 | http://purl.uniprot.org/core/author | "Holmstroem K.M."xsd:string |