RDF/XMLNTriplesTurtleShow queryShare
SubjectPredicateObject
http://purl.uniprot.org/citations/15643620http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/15643620http://www.w3.org/2000/01/rdf-schema#comment"Tricuspid atresia (TriAt), the third most common cyanotic congenital heart defect (CHD), consists of complete lack of tricuspid valve formation, with no connection between the right atrium and the right ventricle. To date, the genetic mechanism responsible of TriAt is still obscure. However, animal models have suggested a role of cardiogenic Zfpm2/Fog2 and Hey2 genes in the pathogenesis of TriAt. Therefore, we screened 40 individuals affected by nonsyndromic TriAt for ZFPM2/FOG2 and HEY2 gene mutations. No pathogenetic mutation has been identified, thus failing to demonstrate a major role of ZFPM2/FOG2 and HEY2 genes in the pathogenesis of human TriAt."xsd:string
http://purl.uniprot.org/citations/15643620http://purl.org/dc/terms/identifier"doi:10.1002/ajmg.a.30534"xsd:string
http://purl.uniprot.org/citations/15643620http://purl.uniprot.org/core/author"Conti E."xsd:string
http://purl.uniprot.org/citations/15643620http://purl.uniprot.org/core/author"Dallapiccola B."xsd:string
http://purl.uniprot.org/citations/15643620http://purl.uniprot.org/core/author"Digilio M.C."xsd:string
http://purl.uniprot.org/citations/15643620http://purl.uniprot.org/core/author"Marino B."xsd:string
http://purl.uniprot.org/citations/15643620http://purl.uniprot.org/core/author"Sarkozy A."xsd:string
http://purl.uniprot.org/citations/15643620http://purl.uniprot.org/core/author"Pizzuti A."xsd:string
http://purl.uniprot.org/citations/15643620http://purl.uniprot.org/core/author"D'Agostino R."xsd:string
http://purl.uniprot.org/citations/15643620http://purl.uniprot.org/core/author"Formigari R."xsd:string
http://purl.uniprot.org/citations/15643620http://purl.uniprot.org/core/author"Picchio F."xsd:string
http://purl.uniprot.org/citations/15643620http://purl.uniprot.org/core/date"2005"xsd:gYear
http://purl.uniprot.org/citations/15643620http://purl.uniprot.org/core/name"Am J Med Genet A"xsd:string
http://purl.uniprot.org/citations/15643620http://purl.uniprot.org/core/pages"68-70"xsd:string
http://purl.uniprot.org/citations/15643620http://purl.uniprot.org/core/title"ZFPM2/FOG2 and HEY2 genes analysis in nonsyndromic tricuspid atresia."xsd:string
http://purl.uniprot.org/citations/15643620http://purl.uniprot.org/core/volume"133A"xsd:string
http://purl.uniprot.org/citations/15643620http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/15643620
http://purl.uniprot.org/citations/15643620http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/15643620
http://purl.uniprot.org/uniprot/#_A8K1M8-mappedCitation-15643620http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/15643620
http://purl.uniprot.org/uniprot/#_B4DZR3-mappedCitation-15643620http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/15643620
http://purl.uniprot.org/uniprot/#_B4E1L3-mappedCitation-15643620http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/15643620
http://purl.uniprot.org/uniprot/#_B4DLH3-mappedCitation-15643620http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/15643620
http://purl.uniprot.org/uniprot/#_B7ZAW1-mappedCitation-15643620http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/15643620
http://purl.uniprot.org/uniprot/#_Q32MA5-mappedCitation-15643620http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/15643620