| http://purl.uniprot.org/citations/17554762 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/17554762 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/17554762 | http://www.w3.org/2000/01/rdf-schema#comment | "Mutations in the centrosomal-ciliary gene CEP290/NPHP6 are associated with Joubert syndrome and are the most common cause of the childhood recessive blindness known as Leber congenital amaurosis (LCA). An in-frame deletion in Cep290 shows rapid degeneration in the rod-rich mouse retina. To explore the mechanisms of the human retinal disease, we studied CEP290-LCA in patients of different ages (7-48 years) and compared results to Cep290-mutant mice. Unexpectedly, blind CEP290-mutant human retinas retained photoreceptor and inner laminar architecture in the cone-rich central retina, independent of severity of visual loss. Surrounding the cone-rich island was photoreceptor loss and distorted retina, suggesting neural-glial remodeling. The mutant mouse retina at 4-6 weeks of age showed similar features of retinal remodeling, with altered neural and synaptic laminae and Muller glial activation. The visual brain pathways in CEP290-LCA were anatomically intact. Our findings of preserved foveal cones and visual brain anatomy in LCA with CEP290 mutations, despite severe blindness and rapid rod cell death, suggest an opportunity for visual restoration of central vision in this common form of inherited blindness."xsd:string |
| http://purl.uniprot.org/citations/17554762 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.20565"xsd:string |
| http://purl.uniprot.org/citations/17554762 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.20565"xsd:string |
| http://purl.uniprot.org/citations/17554762 | http://purl.uniprot.org/core/author | "He S."xsd:string |
| http://purl.uniprot.org/citations/17554762 | http://purl.uniprot.org/core/author | "He S."xsd:string |
| http://purl.uniprot.org/citations/17554762 | http://purl.uniprot.org/core/author | "Chang B."xsd:string |
| http://purl.uniprot.org/citations/17554762 | http://purl.uniprot.org/core/author | "Chang B."xsd:string |
| http://purl.uniprot.org/citations/17554762 | http://purl.uniprot.org/core/author | "Stone E.M."xsd:string |
| http://purl.uniprot.org/citations/17554762 | http://purl.uniprot.org/core/author | "Stone E.M."xsd:string |
| http://purl.uniprot.org/citations/17554762 | http://purl.uniprot.org/core/author | "Jacobson S.G."xsd:string |
| http://purl.uniprot.org/citations/17554762 | http://purl.uniprot.org/core/author | "Jacobson S.G."xsd:string |
| http://purl.uniprot.org/citations/17554762 | http://purl.uniprot.org/core/author | "Swaroop A."xsd:string |
| http://purl.uniprot.org/citations/17554762 | http://purl.uniprot.org/core/author | "Swaroop A."xsd:string |
| http://purl.uniprot.org/citations/17554762 | http://purl.uniprot.org/core/author | "Khanna H."xsd:string |
| http://purl.uniprot.org/citations/17554762 | http://purl.uniprot.org/core/author | "Khanna H."xsd:string |
| http://purl.uniprot.org/citations/17554762 | http://purl.uniprot.org/core/author | "Cideciyan A.V."xsd:string |
| http://purl.uniprot.org/citations/17554762 | http://purl.uniprot.org/core/author | "Cideciyan A.V."xsd:string |
| http://purl.uniprot.org/citations/17554762 | http://purl.uniprot.org/core/author | "Aleman T.S."xsd:string |
| http://purl.uniprot.org/citations/17554762 | http://purl.uniprot.org/core/author | "Aleman T.S."xsd:string |
| http://purl.uniprot.org/citations/17554762 | http://purl.uniprot.org/core/author | "Schwartz S.B."xsd:string |
| http://purl.uniprot.org/citations/17554762 | http://purl.uniprot.org/core/author | "Schwartz S.B."xsd:string |
| http://purl.uniprot.org/citations/17554762 | http://purl.uniprot.org/core/author | "Sumaroka A."xsd:string |
| http://purl.uniprot.org/citations/17554762 | http://purl.uniprot.org/core/author | "Sumaroka A."xsd:string |