| http://purl.uniprot.org/citations/9544840 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9544840 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9544840 | http://www.w3.org/2000/01/rdf-schema#comment | "Congenital heart disease (CHD) affects over 40% of Down syndrome (DS) patients. The region proposed to contain the gene(s) for DS CHD has been restricted to 21q22.2-22.3, from D21S55 to MX1. The identification and functional characterization of the genes mapping to this region is a necessary step to understand the pathogenesis of CHD in DS. In an effort to contribute to the construction of a transcriptional map of the DS CHD region we have performed direct cDNA selection using a YAC contig that maps between ETS2 and D21S15 and cDNAs synthesised from fetal heart structures. Here we describe the identification and characterization of a new gene, WRB, that maps to 21q22.3 between ACTL5 and HMG 14 and appears to be widely expressed in adult and fetal tissues. The new gene encodes a basic protein of unknown function containing a tryptophan-rich carboxyl-terminal region and a potential nuclear localization signal. Immunofluorescence analysis shows a predominant localization in the cell nucleus. The understanding of the biological function of the protein product should clarify the potential role of WRB in the pathogenesis of DS CHD."xsd:string |
| http://purl.uniprot.org/citations/9544840 | http://purl.org/dc/terms/identifier | "doi:10.1007/s004390050693"xsd:string |
| http://purl.uniprot.org/citations/9544840 | http://purl.org/dc/terms/identifier | "doi:10.1007/s004390050693"xsd:string |
| http://purl.uniprot.org/citations/9544840 | http://purl.uniprot.org/core/author | "Oliva R."xsd:string |
| http://purl.uniprot.org/citations/9544840 | http://purl.uniprot.org/core/author | "Oliva R."xsd:string |
| http://purl.uniprot.org/citations/9544840 | http://purl.uniprot.org/core/author | "Nizetic D."xsd:string |
| http://purl.uniprot.org/citations/9544840 | http://purl.uniprot.org/core/author | "Nizetic D."xsd:string |
| http://purl.uniprot.org/citations/9544840 | http://purl.uniprot.org/core/author | "Rasore-Quartino A."xsd:string |
| http://purl.uniprot.org/citations/9544840 | http://purl.uniprot.org/core/author | "Rasore-Quartino A."xsd:string |
| http://purl.uniprot.org/citations/9544840 | http://purl.uniprot.org/core/author | "Bergonon S."xsd:string |
| http://purl.uniprot.org/citations/9544840 | http://purl.uniprot.org/core/author | "Bergonon S."xsd:string |
| http://purl.uniprot.org/citations/9544840 | http://purl.uniprot.org/core/author | "Egeo A."xsd:string |
| http://purl.uniprot.org/citations/9544840 | http://purl.uniprot.org/core/author | "Egeo A."xsd:string |
| http://purl.uniprot.org/citations/9544840 | http://purl.uniprot.org/core/author | "Scartezzini P."xsd:string |
| http://purl.uniprot.org/citations/9544840 | http://purl.uniprot.org/core/author | "Scartezzini P."xsd:string |
| http://purl.uniprot.org/citations/9544840 | http://purl.uniprot.org/core/author | "Sotgia F."xsd:string |
| http://purl.uniprot.org/citations/9544840 | http://purl.uniprot.org/core/author | "Sotgia F."xsd:string |
| http://purl.uniprot.org/citations/9544840 | http://purl.uniprot.org/core/author | "Mazzocco M."xsd:string |
| http://purl.uniprot.org/citations/9544840 | http://purl.uniprot.org/core/author | "Mazzocco M."xsd:string |
| http://purl.uniprot.org/citations/9544840 | http://purl.uniprot.org/core/author | "Arrigo P."xsd:string |
| http://purl.uniprot.org/citations/9544840 | http://purl.uniprot.org/core/author | "Arrigo P."xsd:string |
| http://purl.uniprot.org/citations/9544840 | http://purl.uniprot.org/core/date | "1998"xsd:gYear |
| http://purl.uniprot.org/citations/9544840 | http://purl.uniprot.org/core/date | "1998"xsd:gYear |