| http://purl.uniprot.org/citations/17564971 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/17564971 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/17564971 | http://www.w3.org/2000/01/rdf-schema#comment | ""Autosomal dominant retinitis pigmentosa" (adRP) refers to a genetically heterogeneous group of retinal dystrophies, in which 54% of all cases can be attributed to 17 disease loci. Here, we describe the localization and identification of the photoreceptor cell-specific nuclear receptor gene NR2E3 as a novel disease locus and gene for adRP. A heterozygous mutation c.166G-->A (p.Gly56Arg) was identified in the first zinc finger of NR2E3 in a large Belgian family affected with adRP. Overall, this missense mutation was found in 3 families affected with adRP among 87 unrelated families with potentially dominant retinal dystrophies (3.4%), of which 47 were affected with RP (6.4%). Interestingly, affected members of these families display a novel recognizable NR2E3-related clinical subtype of adRP. Other mutations of NR2E3 have previously been shown to cause autosomal recessive enhanced S-cone syndrome, a specific retinal phenotype. We propose a different pathogenetic mechanism for these distinct dominant and recessive phenotypes, which may be attributed to the dual key role of NR2E3 in the regulation of photoreceptor-specific genes during rod development and maintenance."xsd:string |
| http://purl.uniprot.org/citations/17564971 | http://purl.org/dc/terms/identifier | "doi:10.1086/518426"xsd:string |
| http://purl.uniprot.org/citations/17564971 | http://purl.org/dc/terms/identifier | "doi:10.1086/518426"xsd:string |
| http://purl.uniprot.org/citations/17564971 | http://purl.uniprot.org/core/author | "Haegeman G."xsd:string |
| http://purl.uniprot.org/citations/17564971 | http://purl.uniprot.org/core/author | "Haegeman G."xsd:string |
| http://purl.uniprot.org/citations/17564971 | http://purl.uniprot.org/core/author | "Coppieters F."xsd:string |
| http://purl.uniprot.org/citations/17564971 | http://purl.uniprot.org/core/author | "Coppieters F."xsd:string |
| http://purl.uniprot.org/citations/17564971 | http://purl.uniprot.org/core/author | "De Baere E."xsd:string |
| http://purl.uniprot.org/citations/17564971 | http://purl.uniprot.org/core/author | "De Baere E."xsd:string |
| http://purl.uniprot.org/citations/17564971 | http://purl.uniprot.org/core/author | "Leroy B.P."xsd:string |
| http://purl.uniprot.org/citations/17564971 | http://purl.uniprot.org/core/author | "Leroy B.P."xsd:string |
| http://purl.uniprot.org/citations/17564971 | http://purl.uniprot.org/core/author | "Wuyts W."xsd:string |
| http://purl.uniprot.org/citations/17564971 | http://purl.uniprot.org/core/author | "Wuyts W."xsd:string |
| http://purl.uniprot.org/citations/17564971 | http://purl.uniprot.org/core/author | "Coucke P.J."xsd:string |
| http://purl.uniprot.org/citations/17564971 | http://purl.uniprot.org/core/author | "Coucke P.J."xsd:string |
| http://purl.uniprot.org/citations/17564971 | http://purl.uniprot.org/core/author | "De Bosscher K."xsd:string |
| http://purl.uniprot.org/citations/17564971 | http://purl.uniprot.org/core/author | "De Bosscher K."xsd:string |
| http://purl.uniprot.org/citations/17564971 | http://purl.uniprot.org/core/author | "Hellemans J."xsd:string |
| http://purl.uniprot.org/citations/17564971 | http://purl.uniprot.org/core/author | "Hellemans J."xsd:string |
| http://purl.uniprot.org/citations/17564971 | http://purl.uniprot.org/core/author | "Beysen D."xsd:string |
| http://purl.uniprot.org/citations/17564971 | http://purl.uniprot.org/core/author | "Beysen D."xsd:string |
| http://purl.uniprot.org/citations/17564971 | http://purl.uniprot.org/core/author | "Robberecht K."xsd:string |
| http://purl.uniprot.org/citations/17564971 | http://purl.uniprot.org/core/author | "Robberecht K."xsd:string |