| http://purl.uniprot.org/citations/12845333 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12845333 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12845333 | http://www.w3.org/2000/01/rdf-schema#comment | "Congenital heart defects (CHDs) are the most common developmental anomaly and are the leading non-infectious cause of mortality in newborns. Only one causative gene, NKX2-5, has been identified through genetic linkage analysis of pedigrees with non-syndromic CHDs. Here, we show that isolated cardiac septal defects in a large pedigree were linked to chromosome 8p22-23. A heterozygous G296S missense mutation of GATA4, a transcription factor essential for heart formation, was found in all available affected family members but not in any control individuals. This mutation resulted in diminished DNA-binding affinity and transcriptional activity of Gata4. Furthermore, the Gata4 mutation abrogated a physical interaction between Gata4 and TBX5, a T-box protein responsible for a subset of syndromic cardiac septal defects. Conversely, interaction of Gata4 and TBX5 was disrupted by specific human TBX5 missense mutations that cause similar cardiac septal defects. In a second family, we identified a frame-shift mutation of GATA4 (E359del) that was transcriptionally inactive and segregated with cardiac septal defects. These results implicate GATA4 as a genetic cause of human cardiac septal defects, perhaps through its interaction with TBX5."xsd:string |
| http://purl.uniprot.org/citations/12845333 | http://purl.org/dc/terms/identifier | "doi:10.1038/nature01827"xsd:string |
| http://purl.uniprot.org/citations/12845333 | http://purl.org/dc/terms/identifier | "doi:10.1038/nature01827"xsd:string |
| http://purl.uniprot.org/citations/12845333 | http://purl.uniprot.org/core/author | "Butler C.A."xsd:string |
| http://purl.uniprot.org/citations/12845333 | http://purl.uniprot.org/core/author | "Butler C.A."xsd:string |
| http://purl.uniprot.org/citations/12845333 | http://purl.uniprot.org/core/author | "Cohen J.C."xsd:string |
| http://purl.uniprot.org/citations/12845333 | http://purl.uniprot.org/core/author | "Cohen J.C."xsd:string |
| http://purl.uniprot.org/citations/12845333 | http://purl.uniprot.org/core/author | "Barnes R."xsd:string |
| http://purl.uniprot.org/citations/12845333 | http://purl.uniprot.org/core/author | "Barnes R."xsd:string |
| http://purl.uniprot.org/citations/12845333 | http://purl.uniprot.org/core/author | "Matsuoka R."xsd:string |
| http://purl.uniprot.org/citations/12845333 | http://purl.uniprot.org/core/author | "Matsuoka R."xsd:string |
| http://purl.uniprot.org/citations/12845333 | http://purl.uniprot.org/core/author | "Srivastava D."xsd:string |
| http://purl.uniprot.org/citations/12845333 | http://purl.uniprot.org/core/author | "Srivastava D."xsd:string |
| http://purl.uniprot.org/citations/12845333 | http://purl.uniprot.org/core/author | "Joo K."xsd:string |
| http://purl.uniprot.org/citations/12845333 | http://purl.uniprot.org/core/author | "Joo K."xsd:string |
| http://purl.uniprot.org/citations/12845333 | http://purl.uniprot.org/core/author | "Garg V."xsd:string |
| http://purl.uniprot.org/citations/12845333 | http://purl.uniprot.org/core/author | "Garg V."xsd:string |
| http://purl.uniprot.org/citations/12845333 | http://purl.uniprot.org/core/author | "Eapen R.S."xsd:string |
| http://purl.uniprot.org/citations/12845333 | http://purl.uniprot.org/core/author | "Eapen R.S."xsd:string |
| http://purl.uniprot.org/citations/12845333 | http://purl.uniprot.org/core/author | "Hirayama-Yamada K."xsd:string |
| http://purl.uniprot.org/citations/12845333 | http://purl.uniprot.org/core/author | "Hirayama-Yamada K."xsd:string |
| http://purl.uniprot.org/citations/12845333 | http://purl.uniprot.org/core/author | "Kathiriya I.S."xsd:string |
| http://purl.uniprot.org/citations/12845333 | http://purl.uniprot.org/core/author | "Kathiriya I.S."xsd:string |