| http://purl.uniprot.org/citations/24290376 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/24290376 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/24290376 | http://www.w3.org/2000/01/rdf-schema#comment | "The strictly regulated expression of most pleiotropic developmental control genes is critically dependent on the activity of long-range cis-regulatory elements. This was revealed by the identification of individuals with a genetic condition lacking coding-region mutations in the gene commonly associated with the disease but having a variety of nearby chromosomal abnormalities, collectively described as cis-ruption disease cases. The congenital eye malformation aniridia is caused by haploinsufficiency of the developmental regulator PAX6. We discovered a de novo point mutation in an ultraconserved cis-element located 150 kb downstream from PAX6 in an affected individual with intact coding region and chromosomal locus. The element SIMO acts as a strong enhancer in developing ocular structures. The mutation disrupts an autoregulatory PAX6 binding site, causing loss of enhancer activity, resulting in defective maintenance of PAX6 expression. These findings reveal a distinct regulatory mechanism for genetic disease by disruption of an autoregulatory feedback loop critical for maintenance of gene expression through development."xsd:string |
| http://purl.uniprot.org/citations/24290376 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2013.10.028"xsd:string |
| http://purl.uniprot.org/citations/24290376 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2013.10.028"xsd:string |
| http://purl.uniprot.org/citations/24290376 | http://purl.uniprot.org/core/author | "Brown A."xsd:string |
| http://purl.uniprot.org/citations/24290376 | http://purl.uniprot.org/core/author | "Brown A."xsd:string |
| http://purl.uniprot.org/citations/24290376 | http://purl.uniprot.org/core/author | "Bhatia S."xsd:string |
| http://purl.uniprot.org/citations/24290376 | http://purl.uniprot.org/core/author | "Bhatia S."xsd:string |
| http://purl.uniprot.org/citations/24290376 | http://purl.uniprot.org/core/author | "van Heyningen V."xsd:string |
| http://purl.uniprot.org/citations/24290376 | http://purl.uniprot.org/core/author | "van Heyningen V."xsd:string |
| http://purl.uniprot.org/citations/24290376 | http://purl.uniprot.org/core/author | "Grainger R."xsd:string |
| http://purl.uniprot.org/citations/24290376 | http://purl.uniprot.org/core/author | "Grainger R."xsd:string |
| http://purl.uniprot.org/citations/24290376 | http://purl.uniprot.org/core/author | "Damante G."xsd:string |
| http://purl.uniprot.org/citations/24290376 | http://purl.uniprot.org/core/author | "Damante G."xsd:string |
| http://purl.uniprot.org/citations/24290376 | http://purl.uniprot.org/core/author | "Fish M."xsd:string |
| http://purl.uniprot.org/citations/24290376 | http://purl.uniprot.org/core/author | "Fish M."xsd:string |
| http://purl.uniprot.org/citations/24290376 | http://purl.uniprot.org/core/author | "Divizia M.T."xsd:string |
| http://purl.uniprot.org/citations/24290376 | http://purl.uniprot.org/core/author | "Divizia M.T."xsd:string |
| http://purl.uniprot.org/citations/24290376 | http://purl.uniprot.org/core/author | "Bengani H."xsd:string |
| http://purl.uniprot.org/citations/24290376 | http://purl.uniprot.org/core/author | "Bengani H."xsd:string |
| http://purl.uniprot.org/citations/24290376 | http://purl.uniprot.org/core/author | "Kleinjan D.A."xsd:string |
| http://purl.uniprot.org/citations/24290376 | http://purl.uniprot.org/core/author | "Kleinjan D.A."xsd:string |
| http://purl.uniprot.org/citations/24290376 | http://purl.uniprot.org/core/author | "de Marco R."xsd:string |
| http://purl.uniprot.org/citations/24290376 | http://purl.uniprot.org/core/author | "de Marco R."xsd:string |