| http://purl.uniprot.org/citations/24123890 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/24123890 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/24123890 | http://www.w3.org/2000/01/rdf-schema#comment | "Mutations in zinc-finger in cerebellum 3 (ZIC3) result in heterotaxy or isolated congenital heart disease (CHD). The majority of reported mutations cluster in zinc-finger domains. We previously demonstrated that many of these lead to aberrant ZIC3 subcellular trafficking. A relative paucity of N- and C-terminal mutations has, however, prevented similar analyses in these regions. Notably, an N-terminal polyalanine expansion was recently identified in a patient with VACTERL, suggesting a potentially distinct function for this domain. Here we report ZIC3 sequencing results from 440 unrelated patients with heterotaxy and CHD, the largest cohort yet examined. Variants were identified in 5.2% of sporadic male cases. This rate exceeds previous estimates of 1% and has important clinical implications for genetic testing and risk-based counseling. Eight of 11 were novel, including 5 N-terminal variants. Subsequent functional analyses included four additional reported but untested variants. Aberrant cytoplasmic localization and decreased luciferase transactivation were observed for all zinc-finger variants, but not for downstream or in-frame upstream variants, including both analyzed polyalanine expansions. Collectively, these results expand the ZIC3 mutational spectrum, support a higher than expected prevalence in sporadic cases, and suggest alternative functions for terminal mutations, highlighting a need for further study of these domains."xsd:string |
| http://purl.uniprot.org/citations/24123890 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.22457"xsd:string |
| http://purl.uniprot.org/citations/24123890 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.22457"xsd:string |
| http://purl.uniprot.org/citations/24123890 | http://purl.uniprot.org/core/author | "Tariq M."xsd:string |
| http://purl.uniprot.org/citations/24123890 | http://purl.uniprot.org/core/author | "Tariq M."xsd:string |
| http://purl.uniprot.org/citations/24123890 | http://purl.uniprot.org/core/author | "Ware S.M."xsd:string |
| http://purl.uniprot.org/citations/24123890 | http://purl.uniprot.org/core/author | "Ware S.M."xsd:string |
| http://purl.uniprot.org/citations/24123890 | http://purl.uniprot.org/core/author | "Cowan J."xsd:string |
| http://purl.uniprot.org/citations/24123890 | http://purl.uniprot.org/core/author | "Cowan J."xsd:string |
| http://purl.uniprot.org/citations/24123890 | http://purl.uniprot.org/core/date | "2014"xsd:gYear |
| http://purl.uniprot.org/citations/24123890 | http://purl.uniprot.org/core/date | "2014"xsd:gYear |
| http://purl.uniprot.org/citations/24123890 | http://purl.uniprot.org/core/name | "Hum. Mutat."xsd:string |
| http://purl.uniprot.org/citations/24123890 | http://purl.uniprot.org/core/name | "Hum. Mutat."xsd:string |
| http://purl.uniprot.org/citations/24123890 | http://purl.uniprot.org/core/pages | "66-75"xsd:string |
| http://purl.uniprot.org/citations/24123890 | http://purl.uniprot.org/core/pages | "66-75"xsd:string |
| http://purl.uniprot.org/citations/24123890 | http://purl.uniprot.org/core/title | "Genetic and functional analyses of ZIC3 variants in congenital heart disease."xsd:string |
| http://purl.uniprot.org/citations/24123890 | http://purl.uniprot.org/core/title | "Genetic and functional analyses of ZIC3 variants in congenital heart disease."xsd:string |
| http://purl.uniprot.org/citations/24123890 | http://purl.uniprot.org/core/volume | "35"xsd:string |
| http://purl.uniprot.org/citations/24123890 | http://purl.uniprot.org/core/volume | "35"xsd:string |
| http://purl.uniprot.org/citations/24123890 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/24123890 |
| http://purl.uniprot.org/citations/24123890 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/24123890 |
| http://purl.uniprot.org/citations/24123890 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/24123890 |
| http://purl.uniprot.org/citations/24123890 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/24123890 |