| http://purl.uniprot.org/citations/22484060 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22484060 | http://www.w3.org/2000/01/rdf-schema#comment | "Congenital scoliosis, a lateral curvature of the spine caused by vertebral defects, occurs in approximately 1 in 1,000 live births. Here we demonstrate that haploinsufficiency of Notch signaling pathway genes in humans can cause this congenital abnormality. We also show that in a mouse model, the combination of this genetic risk factor with an environmental condition (short-term gestational hypoxia) significantly increases the penetrance and severity of vertebral defects. We demonstrate that hypoxia disrupts FGF signaling, leading to a temporary failure of embryonic somitogenesis. Our results potentially provide a mechanism for the genesis of a host of common sporadic congenital abnormalities through gene-environment interaction."xsd:string |
| http://purl.uniprot.org/citations/22484060 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.cell.2012.02.054"xsd:string |
| http://purl.uniprot.org/citations/22484060 | http://purl.uniprot.org/core/author | "Chapman G."xsd:string |
| http://purl.uniprot.org/citations/22484060 | http://purl.uniprot.org/core/author | "Dunwoodie S.L."xsd:string |
| http://purl.uniprot.org/citations/22484060 | http://purl.uniprot.org/core/author | "Sparrow D.B."xsd:string |
| http://purl.uniprot.org/citations/22484060 | http://purl.uniprot.org/core/author | "Saga Y."xsd:string |
| http://purl.uniprot.org/citations/22484060 | http://purl.uniprot.org/core/author | "Zackai E.H."xsd:string |
| http://purl.uniprot.org/citations/22484060 | http://purl.uniprot.org/core/author | "Smith A.J."xsd:string |
| http://purl.uniprot.org/citations/22484060 | http://purl.uniprot.org/core/author | "Kusumi K."xsd:string |
| http://purl.uniprot.org/citations/22484060 | http://purl.uniprot.org/core/author | "Kageyama R."xsd:string |
| http://purl.uniprot.org/citations/22484060 | http://purl.uniprot.org/core/author | "McGregor L."xsd:string |
| http://purl.uniprot.org/citations/22484060 | http://purl.uniprot.org/core/author | "Alman B.A."xsd:string |
| http://purl.uniprot.org/citations/22484060 | http://purl.uniprot.org/core/author | "O'Reilly V.C."xsd:string |
| http://purl.uniprot.org/citations/22484060 | http://purl.uniprot.org/core/author | "Major J.A."xsd:string |
| http://purl.uniprot.org/citations/22484060 | http://purl.uniprot.org/core/author | "Dormans J.P."xsd:string |
| http://purl.uniprot.org/citations/22484060 | http://purl.uniprot.org/core/author | "Mattar M.Z."xsd:string |
| http://purl.uniprot.org/citations/22484060 | http://purl.uniprot.org/core/date | "2012"xsd:gYear |
| http://purl.uniprot.org/citations/22484060 | http://purl.uniprot.org/core/name | "Cell"xsd:string |
| http://purl.uniprot.org/citations/22484060 | http://purl.uniprot.org/core/pages | "295-306"xsd:string |
| http://purl.uniprot.org/citations/22484060 | http://purl.uniprot.org/core/title | "A mechanism for gene-environment interaction in the etiology of congenital scoliosis."xsd:string |
| http://purl.uniprot.org/citations/22484060 | http://purl.uniprot.org/core/volume | "149"xsd:string |
| http://purl.uniprot.org/citations/22484060 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/22484060 |
| http://purl.uniprot.org/citations/22484060 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/22484060 |
| http://purl.uniprot.org/uniprot/#_D3YW77-mappedCitation-22484060 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/22484060 |