| http://purl.uniprot.org/citations/20081859 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/20081859 | http://www.w3.org/2000/01/rdf-schema#comment | "Degeneration of photoreceptors is a common feature of ciliopathies, owing to the importance of the specialized ciliary structure of these cells. Mutations in AHI1, which encodes a cilium-localized protein, have been shown to cause a form of Joubert syndrome that is highly penetrant for retinal degeneration. We show that Ahi1-null mice fail to form retinal outer segments and have abnormal distribution of opsin throughout their photoreceptors. Apoptotic cell death of photoreceptors occurs rapidly between 2 and 4 weeks of age in these mice and is significantly (P = 0.00175 and 0.00613) delayed by a reduced dosage of opsin. This phenotype also shows dosage-sensitive genetic interactions with Nphp1, another ciliopathy-related gene. Although it is not a primary cause of retinal blindness in humans, we show that an allele of AHI1 is associated with a more than sevenfold increase in relative risk of retinal degeneration within a cohort of individuals with the hereditary kidney disease nephronophthisis. Our data support context-specific roles for AHI1 as a contributor to retinopathy and show that AHI1 may explain a proportion of the variability in retinal phenotypes observed in nephronophthisis."xsd:string |
| http://purl.uniprot.org/citations/20081859 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng.519"xsd:string |
| http://purl.uniprot.org/citations/20081859 | http://purl.uniprot.org/core/author | "Gleeson J.G."xsd:string |
| http://purl.uniprot.org/citations/20081859 | http://purl.uniprot.org/core/author | "Grone H.J."xsd:string |
| http://purl.uniprot.org/citations/20081859 | http://purl.uniprot.org/core/author | "Lopez I."xsd:string |
| http://purl.uniprot.org/citations/20081859 | http://purl.uniprot.org/core/author | "Ayuso C."xsd:string |
| http://purl.uniprot.org/citations/20081859 | http://purl.uniprot.org/core/author | "Vallespin E."xsd:string |
| http://purl.uniprot.org/citations/20081859 | http://purl.uniprot.org/core/author | "den Hollander A.I."xsd:string |
| http://purl.uniprot.org/citations/20081859 | http://purl.uniprot.org/core/author | "Cremers F.P."xsd:string |
| http://purl.uniprot.org/citations/20081859 | http://purl.uniprot.org/core/author | "Hildebrandt F."xsd:string |
| http://purl.uniprot.org/citations/20081859 | http://purl.uniprot.org/core/author | "Kispert A."xsd:string |
| http://purl.uniprot.org/citations/20081859 | http://purl.uniprot.org/core/author | "Koenekoop R.K."xsd:string |
| http://purl.uniprot.org/citations/20081859 | http://purl.uniprot.org/core/author | "Brancati F."xsd:string |
| http://purl.uniprot.org/citations/20081859 | http://purl.uniprot.org/core/author | "Valente E.M."xsd:string |
| http://purl.uniprot.org/citations/20081859 | http://purl.uniprot.org/core/author | "Dallapiccola B."xsd:string |
| http://purl.uniprot.org/citations/20081859 | http://purl.uniprot.org/core/author | "Lancaster M.A."xsd:string |
| http://purl.uniprot.org/citations/20081859 | http://purl.uniprot.org/core/author | "Louie C.M."xsd:string |
| http://purl.uniprot.org/citations/20081859 | http://purl.uniprot.org/core/author | "O'Toole J.F."xsd:string |
| http://purl.uniprot.org/citations/20081859 | http://purl.uniprot.org/core/author | "Otto E.A."xsd:string |
| http://purl.uniprot.org/citations/20081859 | http://purl.uniprot.org/core/author | "Williams D.S."xsd:string |
| http://purl.uniprot.org/citations/20081859 | http://purl.uniprot.org/core/author | "Ayyagari R."xsd:string |
| http://purl.uniprot.org/citations/20081859 | http://purl.uniprot.org/core/author | "Leitges M."xsd:string |
| http://purl.uniprot.org/citations/20081859 | http://purl.uniprot.org/core/author | "Ghiggeri G.M."xsd:string |
| http://purl.uniprot.org/citations/20081859 | http://purl.uniprot.org/core/author | "Schlossman A.M."xsd:string |