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| http://purl.uniprot.org/citations/27328943 | http://www.w3.org/2000/01/rdf-schema#comment | "Null mutations in the human IQCB1/NPHP5 (nephrocystin-5) gene that encodes NPHP5 are the most frequent cause of Senior-Løken syndrome, a ciliopathy that is characterized by Leber congenital amaurosis and nephronophthisis. We generated germline Nphp5-knockout mice by placing a β-Geo gene trap in intron 4, thereby truncating NPHP5 at Leu87 and removing all known functional domains. At eye opening, Nphp5-/- mice exhibited absence of scotopic and photopic electroretinogram responses, a phenotype that resembles Leber congenital amaurosis. Outer segment transmembrane protein accumulation in Nphp5-/- endoplasmic reticulum was evident as early as postnatal day (P)6. EGFP-CETN2, a centrosome and transition zone marker, identified basal bodies in Nphp5-/- photoreceptors, but without fully developed transition zones. Ultrastructure of P6 and 10 Nphp5-/- photoreceptors revealed aberrant transition zones of reduced diameter. Nphp5-/- photoreceptor degeneration was complete at 1 mo of age but was delayed significantly in Nphp5-/-;Nrl-/- (cone only) retina. Nphp5-/- mouse embryonic fibroblast developed normal cilia, and Nphp5-/- kidney histology at 1 yr of age showed no significant pathology. Results establish that nephrocystin-5 is essential for photoreceptor outer segment formation but is dispensable for kidney and mouse embryonic fibroblast ciliary formation.-Ronquillo, C. C., Hanke-Gogokhia, C., Revelo, M. P., Frederick, J. M., Jiang, L., Baehr, W. Ciliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation."xsd:string |
| http://purl.uniprot.org/citations/27328943 | http://purl.org/dc/terms/identifier | "doi:10.1096/fj.201600511r"xsd:string |
| http://purl.uniprot.org/citations/27328943 | http://purl.uniprot.org/core/author | "Jiang L."xsd:string |
| http://purl.uniprot.org/citations/27328943 | http://purl.uniprot.org/core/author | "Baehr W."xsd:string |
| http://purl.uniprot.org/citations/27328943 | http://purl.uniprot.org/core/author | "Frederick J.M."xsd:string |
| http://purl.uniprot.org/citations/27328943 | http://purl.uniprot.org/core/author | "Ronquillo C.C."xsd:string |
| http://purl.uniprot.org/citations/27328943 | http://purl.uniprot.org/core/author | "Hanke-Gogokhia C."xsd:string |
| http://purl.uniprot.org/citations/27328943 | http://purl.uniprot.org/core/author | "Revelo M.P."xsd:string |
| http://purl.uniprot.org/citations/27328943 | http://purl.uniprot.org/core/date | "2016"xsd:gYear |
| http://purl.uniprot.org/citations/27328943 | http://purl.uniprot.org/core/name | "FASEB J"xsd:string |
| http://purl.uniprot.org/citations/27328943 | http://purl.uniprot.org/core/pages | "3400-3412"xsd:string |
| http://purl.uniprot.org/citations/27328943 | http://purl.uniprot.org/core/title | "Ciliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation."xsd:string |
| http://purl.uniprot.org/citations/27328943 | http://purl.uniprot.org/core/volume | "30"xsd:string |
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