| http://purl.uniprot.org/citations/19755384 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/19755384 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/19755384 | http://www.w3.org/2000/01/rdf-schema#comment | "Nephronophthisis (NPH) is an autosomal recessive disorder characterized by renal fibrosis, tubular basement membrane disruption and corticomedullary cyst formation leading to end-stage renal failure. The disease is caused by mutations in NPHP1-9 genes, which encode the nephrocystins, proteins localized to cell-cell junctions and centrosome/primary cilia. Here, we show that nephrocystin mRNA expression is dramatically increased during cell polarization, and shRNA-mediated knockdown of either NPHP1 or NPHP4 in MDCK cells resulted in delayed tight junction (TJ) formation, abnormal cilia formation and disorganized multi-lumen structures when grown in a three-dimensional collagen matrix. Some of these phenotypes are similar to those reported for cells depleted of the TJ proteins PALS1 or Par3, and interestingly, we demonstrate a physical interaction between these nephrocystins and PALS1 as well as their partners PATJ and Par6 and show their partial co-localization in human renal tubules. Taken together, these results demonstrate that the nephrocystins play an essential role in epithelial cell organization, suggesting a plausible mechanism by which the in vivo histopathologic features of NPH might develop."xsd:string |
| http://purl.uniprot.org/citations/19755384 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/ddp434"xsd:string |
| http://purl.uniprot.org/citations/19755384 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/ddp434"xsd:string |
| http://purl.uniprot.org/citations/19755384 | http://purl.uniprot.org/core/author | "Salomon R."xsd:string |
| http://purl.uniprot.org/citations/19755384 | http://purl.uniprot.org/core/author | "Salomon R."xsd:string |
| http://purl.uniprot.org/citations/19755384 | http://purl.uniprot.org/core/author | "Antignac C."xsd:string |
| http://purl.uniprot.org/citations/19755384 | http://purl.uniprot.org/core/author | "Antignac C."xsd:string |
| http://purl.uniprot.org/citations/19755384 | http://purl.uniprot.org/core/author | "Saunier S."xsd:string |
| http://purl.uniprot.org/citations/19755384 | http://purl.uniprot.org/core/author | "Saunier S."xsd:string |
| http://purl.uniprot.org/citations/19755384 | http://purl.uniprot.org/core/author | "Le Bivic A."xsd:string |
| http://purl.uniprot.org/citations/19755384 | http://purl.uniprot.org/core/author | "Le Bivic A."xsd:string |
| http://purl.uniprot.org/citations/19755384 | http://purl.uniprot.org/core/author | "Hellman N.E."xsd:string |
| http://purl.uniprot.org/citations/19755384 | http://purl.uniprot.org/core/author | "Hellman N.E."xsd:string |
| http://purl.uniprot.org/citations/19755384 | http://purl.uniprot.org/core/author | "Delous M."xsd:string |
| http://purl.uniprot.org/citations/19755384 | http://purl.uniprot.org/core/author | "Delous M."xsd:string |
| http://purl.uniprot.org/citations/19755384 | http://purl.uniprot.org/core/author | "Gaude H.M."xsd:string |
| http://purl.uniprot.org/citations/19755384 | http://purl.uniprot.org/core/author | "Gaude H.M."xsd:string |
| http://purl.uniprot.org/citations/19755384 | http://purl.uniprot.org/core/author | "Silbermann F."xsd:string |
| http://purl.uniprot.org/citations/19755384 | http://purl.uniprot.org/core/author | "Silbermann F."xsd:string |
| http://purl.uniprot.org/citations/19755384 | http://purl.uniprot.org/core/date | "2009"xsd:gYear |
| http://purl.uniprot.org/citations/19755384 | http://purl.uniprot.org/core/date | "2009"xsd:gYear |
| http://purl.uniprot.org/citations/19755384 | http://purl.uniprot.org/core/name | "Hum. Mol. Genet."xsd:string |
| http://purl.uniprot.org/citations/19755384 | http://purl.uniprot.org/core/name | "Hum. Mol. Genet."xsd:string |