| http://purl.uniprot.org/citations/18273862 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18273862 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18273862 | http://www.w3.org/2000/01/rdf-schema#comment | "Total anomalous pulmonary venous return (TAPVR) is a congenital heart defect in which the pulmonary veins fail to enter the left atrium and drain instead into the right atrium or one of its venous tributaries. Although a genetic basis for TAPVR has long been recognized, no single gene involved in the pathogenesis of this disease has been identified to date. We previously reported a TAPVR patient bearing a de novo 10;21 balanced translocation. In this work, we cloned both translocation breakpoints from this patient and mapped the ANKRD1 gene, encoding a cardiac transcriptional regulator, 130 kb proximally to the breakpoint on chromosome 10. In situ hybridization analysis performed on murine embryos showed ANKRD1 expression in the developing pulmonary veins, suggesting a possible role for this gene in TAPVR pathogenesis. Moreover, ANKRD1 expression levels were found to be highly increased in lymphoblastoid cell lines derived from both the translocation-bearing proband and a second independent sporadic TAPVR patient, suggesting that disruption of the normal ANKRD1 expression pattern is associated with TAPVR. Finally, a nonconservative missense mutation in the ANKRD1 gene was found in a third sporadic TAPVR patient. In vitro calpain-mediated degradation assays, coupled to reporter gene analysis in transfected HeLa cells, strongly suggested that this mutation enhances both the stability of the ANKRD1/CARP protein and its transcriptional repression activity upon the cardiac-specific atrial natriuretic factor (ANF) promoter. Taken together, these results define ANKRD1 as a possible candidate gene for TAPVR pathogenesis."xsd:string |
| http://purl.uniprot.org/citations/18273862 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.20711"xsd:string |
| http://purl.uniprot.org/citations/18273862 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.20711"xsd:string |
| http://purl.uniprot.org/citations/18273862 | http://purl.uniprot.org/core/author | "Acquati F."xsd:string |
| http://purl.uniprot.org/citations/18273862 | http://purl.uniprot.org/core/author | "Acquati F."xsd:string |
| http://purl.uniprot.org/citations/18273862 | http://purl.uniprot.org/core/author | "Taramelli R."xsd:string |
| http://purl.uniprot.org/citations/18273862 | http://purl.uniprot.org/core/author | "Taramelli R."xsd:string |
| http://purl.uniprot.org/citations/18273862 | http://purl.uniprot.org/core/author | "Russo A."xsd:string |
| http://purl.uniprot.org/citations/18273862 | http://purl.uniprot.org/core/author | "Russo A."xsd:string |
| http://purl.uniprot.org/citations/18273862 | http://purl.uniprot.org/core/author | "Badi I."xsd:string |
| http://purl.uniprot.org/citations/18273862 | http://purl.uniprot.org/core/author | "Badi I."xsd:string |
| http://purl.uniprot.org/citations/18273862 | http://purl.uniprot.org/core/author | "Bortoletto E."xsd:string |
| http://purl.uniprot.org/citations/18273862 | http://purl.uniprot.org/core/author | "Bortoletto E."xsd:string |
| http://purl.uniprot.org/citations/18273862 | http://purl.uniprot.org/core/author | "Camesasca C."xsd:string |
| http://purl.uniprot.org/citations/18273862 | http://purl.uniprot.org/core/author | "Camesasca C."xsd:string |
| http://purl.uniprot.org/citations/18273862 | http://purl.uniprot.org/core/author | "Campione M."xsd:string |
| http://purl.uniprot.org/citations/18273862 | http://purl.uniprot.org/core/author | "Campione M."xsd:string |
| http://purl.uniprot.org/citations/18273862 | http://purl.uniprot.org/core/author | "Chiesa G."xsd:string |
| http://purl.uniprot.org/citations/18273862 | http://purl.uniprot.org/core/author | "Chiesa G."xsd:string |
| http://purl.uniprot.org/citations/18273862 | http://purl.uniprot.org/core/author | "Cinquetti R."xsd:string |
| http://purl.uniprot.org/citations/18273862 | http://purl.uniprot.org/core/author | "Cinquetti R."xsd:string |
| http://purl.uniprot.org/citations/18273862 | http://purl.uniprot.org/core/author | "Parolini C."xsd:string |
| http://purl.uniprot.org/citations/18273862 | http://purl.uniprot.org/core/author | "Parolini C."xsd:string |