| http://purl.uniprot.org/citations/25557784 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/25557784 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/25557784 | http://www.w3.org/2000/01/rdf-schema#comment | "Nephronophthisis-related ciliopathies (NPHP-RC) are recessive diseases characterized by renal dysplasia or degeneration. We here identify mutations of DCDC2 as causing a renal-hepatic ciliopathy. DCDC2 localizes to the ciliary axoneme and to mitotic spindle fibers in a cell-cycle-dependent manner. Knockdown of Dcdc2 in IMCD3 cells disrupts ciliogenesis, which is rescued by wild-type (WT) human DCDC2, but not by constructs that reflect human mutations. We show that DCDC2 interacts with DVL and DCDC2 overexpression inhibits β-catenin-dependent Wnt signaling in an effect additive to Wnt inhibitors. Mutations detected in human NPHP-RC lack these effects. A Wnt inhibitor likewise restores ciliogenesis in 3D IMCD3 cultures, emphasizing the importance of Wnt signaling for renal tubulogenesis. Knockdown of dcdc2 in zebrafish recapitulates NPHP-RC phenotypes, including renal cysts and hydrocephalus, which is rescued by a Wnt inhibitor and by WT, but not by mutant, DCDC2. We thus demonstrate a central role of Wnt signaling in the pathogenesis of NPHP-RC, suggesting an avenue for potential treatment of NPHP-RC."xsd:string |
| http://purl.uniprot.org/citations/25557784 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2014.12.002"xsd:string |
| http://purl.uniprot.org/citations/25557784 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2014.12.002"xsd:string |
| http://purl.uniprot.org/citations/25557784 | http://purl.uniprot.org/core/author | "Harris P.C."xsd:string |
| http://purl.uniprot.org/citations/25557784 | http://purl.uniprot.org/core/author | "Harris P.C."xsd:string |
| http://purl.uniprot.org/citations/25557784 | http://purl.uniprot.org/core/author | "Zhou W."xsd:string |
| http://purl.uniprot.org/citations/25557784 | http://purl.uniprot.org/core/author | "Zhou W."xsd:string |
| http://purl.uniprot.org/citations/25557784 | http://purl.uniprot.org/core/author | "Kere J."xsd:string |
| http://purl.uniprot.org/citations/25557784 | http://purl.uniprot.org/core/author | "Kere J."xsd:string |
| http://purl.uniprot.org/citations/25557784 | http://purl.uniprot.org/core/author | "Honzik T."xsd:string |
| http://purl.uniprot.org/citations/25557784 | http://purl.uniprot.org/core/author | "Honzik T."xsd:string |
| http://purl.uniprot.org/citations/25557784 | http://purl.uniprot.org/core/author | "Lifton R.P."xsd:string |
| http://purl.uniprot.org/citations/25557784 | http://purl.uniprot.org/core/author | "Lifton R.P."xsd:string |
| http://purl.uniprot.org/citations/25557784 | http://purl.uniprot.org/core/author | "Hildebrandt F."xsd:string |
| http://purl.uniprot.org/citations/25557784 | http://purl.uniprot.org/core/author | "Hildebrandt F."xsd:string |
| http://purl.uniprot.org/citations/25557784 | http://purl.uniprot.org/core/author | "Schueler M."xsd:string |
| http://purl.uniprot.org/citations/25557784 | http://purl.uniprot.org/core/author | "Schueler M."xsd:string |
| http://purl.uniprot.org/citations/25557784 | http://purl.uniprot.org/core/author | "Gunay-Aygun M."xsd:string |
| http://purl.uniprot.org/citations/25557784 | http://purl.uniprot.org/core/author | "Gunay-Aygun M."xsd:string |
| http://purl.uniprot.org/citations/25557784 | http://purl.uniprot.org/core/author | "Giles R.H."xsd:string |
| http://purl.uniprot.org/citations/25557784 | http://purl.uniprot.org/core/author | "Giles R.H."xsd:string |
| http://purl.uniprot.org/citations/25557784 | http://purl.uniprot.org/core/author | "Otto E.A."xsd:string |
| http://purl.uniprot.org/citations/25557784 | http://purl.uniprot.org/core/author | "Otto E.A."xsd:string |