| http://purl.uniprot.org/citations/33811421 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/33811421 | http://www.w3.org/2000/01/rdf-schema#comment | "BackgroundMitral valve prolapse (MVP) is a common and progressive cardiovascular disease with developmental origins. How developmental errors contribute to disease pathogenesis are not well understood.ResultsA multimeric complex was identified that consists of the MVP gene Dzip1, Cby1, and β-catenin. Co-expression during valve development revealed overlap at the basal body of the primary cilia. Biochemical studies revealed a DZIP1 peptide required for stabilization of the complex and suppression of β-catenin activities. Decoy peptides generated against this interaction motif altered nuclear vs cytosolic levels of β-catenin with effects on transcriptional activity. A mutation within this domain was identified in a family with inherited non-syndromic MVP. This novel mutation and our previously identified DZIP1S24R variant resulted in reduced DZIP1 and CBY1 stability and increased β-catenin activities. The β-catenin target gene, MMP2 was up-regulated in the Dzip1S14R/+ valves and correlated with loss of collagenous ECM matrix and myxomatous phenotype.ConclusionDzip1 functions to restrain β-catenin signaling through a CBY1 linker during cardiac development. Loss of these interactions results in increased nuclear β-catenin/Lef1 and excess MMP2 production, which correlates with developmental and postnatal changes in ECM and generation of a myxomatous phenotype."xsd:string |
| http://purl.uniprot.org/citations/33811421 | http://purl.org/dc/terms/identifier | "doi:10.1002/dvdy.342"xsd:string |
| http://purl.uniprot.org/citations/33811421 | http://purl.uniprot.org/core/author | "Guo L."xsd:string |
| http://purl.uniprot.org/citations/33811421 | http://purl.uniprot.org/core/author | "Moore R."xsd:string |
| http://purl.uniprot.org/citations/33811421 | http://purl.uniprot.org/core/author | "Moore K."xsd:string |
| http://purl.uniprot.org/citations/33811421 | http://purl.uniprot.org/core/author | "Wang C."xsd:string |
| http://purl.uniprot.org/citations/33811421 | http://purl.uniprot.org/core/author | "Beck T."xsd:string |
| http://purl.uniprot.org/citations/33811421 | http://purl.uniprot.org/core/author | "Glover J."xsd:string |
| http://purl.uniprot.org/citations/33811421 | http://purl.uniprot.org/core/author | "Fulmer D."xsd:string |
| http://purl.uniprot.org/citations/33811421 | http://purl.uniprot.org/core/author | "Gensemer C."xsd:string |
| http://purl.uniprot.org/citations/33811421 | http://purl.uniprot.org/core/author | "Norris R.A."xsd:string |
| http://purl.uniprot.org/citations/33811421 | http://purl.uniprot.org/core/author | "Le Tourneau T."xsd:string |
| http://purl.uniprot.org/citations/33811421 | http://purl.uniprot.org/core/author | "Ramos-Ortiz S."xsd:string |
| http://purl.uniprot.org/citations/33811421 | http://purl.uniprot.org/core/author | "Schott J.J."xsd:string |
| http://purl.uniprot.org/citations/33811421 | http://purl.uniprot.org/core/author | "Morningstar J."xsd:string |
| http://purl.uniprot.org/citations/33811421 | http://purl.uniprot.org/core/author | "Koren N."xsd:string |
| http://purl.uniprot.org/citations/33811421 | http://purl.uniprot.org/core/date | "2021"xsd:gYear |
| http://purl.uniprot.org/citations/33811421 | http://purl.uniprot.org/core/name | "Dev Dyn"xsd:string |
| http://purl.uniprot.org/citations/33811421 | http://purl.uniprot.org/core/pages | "1432-1449"xsd:string |
| http://purl.uniprot.org/citations/33811421 | http://purl.uniprot.org/core/title | "DZIP1 regulates mammalian cardiac valve development through a Cby1-beta-catenin mechanism."xsd:string |
| http://purl.uniprot.org/citations/33811421 | http://purl.uniprot.org/core/volume | "250"xsd:string |
| http://purl.uniprot.org/citations/33811421 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/33811421 |
| http://purl.uniprot.org/citations/33811421 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/33811421 |
| http://purl.uniprot.org/uniprot/#_D3Z7S6-mappedCitation-33811421 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/33811421 |