| http://purl.uniprot.org/citations/7697714 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7697714 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7697714 | http://www.w3.org/2000/01/rdf-schema#comment | "The ATR-X syndrome is an X-linked disorder comprising severe psychomotor retardation, characteristic facial features, genital abnormalities, and alpha-thalassemia. We have shown that ATR-X results from diverse mutations of XH2, a member of a subgroup of the helicase superfamily that includes proteins involved in a wide range of cellular functions, including DNA recombination and repair (RAD16, RAD54, and ERCC6) and regulation of transcription (SW12/SNF2, MOT1, and brahma). The complex ATR-X phenotype suggests that XH2, when mutated, down-regulates expression of several genes, including the alpha-globin genes, indicating that it could be a global transcriptional regulator. In addition to its role in the ATR-X syndrome, XH2 may be a good candidate for other forms of X-linked mental retardation mapping to Xq13."xsd:string |
| http://purl.uniprot.org/citations/7697714 | http://purl.org/dc/terms/identifier | "doi:10.1016/0092-8674(95)90287-2"xsd:string |
| http://purl.uniprot.org/citations/7697714 | http://purl.org/dc/terms/identifier | "doi:10.1016/0092-8674(95)90287-2"xsd:string |
| http://purl.uniprot.org/citations/7697714 | http://purl.uniprot.org/core/author | "Higgs D.R."xsd:string |
| http://purl.uniprot.org/citations/7697714 | http://purl.uniprot.org/core/author | "Higgs D.R."xsd:string |
| http://purl.uniprot.org/citations/7697714 | http://purl.uniprot.org/core/author | "Villard L."xsd:string |
| http://purl.uniprot.org/citations/7697714 | http://purl.uniprot.org/core/author | "Villard L."xsd:string |
| http://purl.uniprot.org/citations/7697714 | http://purl.uniprot.org/core/author | "Gibbons R.J."xsd:string |
| http://purl.uniprot.org/citations/7697714 | http://purl.uniprot.org/core/author | "Gibbons R.J."xsd:string |
| http://purl.uniprot.org/citations/7697714 | http://purl.uniprot.org/core/author | "Picketts D.J."xsd:string |
| http://purl.uniprot.org/citations/7697714 | http://purl.uniprot.org/core/author | "Picketts D.J."xsd:string |
| http://purl.uniprot.org/citations/7697714 | http://purl.uniprot.org/core/date | "1995"xsd:gYear |
| http://purl.uniprot.org/citations/7697714 | http://purl.uniprot.org/core/date | "1995"xsd:gYear |
| http://purl.uniprot.org/citations/7697714 | http://purl.uniprot.org/core/name | "Cell"xsd:string |
| http://purl.uniprot.org/citations/7697714 | http://purl.uniprot.org/core/name | "Cell"xsd:string |
| http://purl.uniprot.org/citations/7697714 | http://purl.uniprot.org/core/pages | "837-845"xsd:string |
| http://purl.uniprot.org/citations/7697714 | http://purl.uniprot.org/core/pages | "837-845"xsd:string |
| http://purl.uniprot.org/citations/7697714 | http://purl.uniprot.org/core/title | "Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)."xsd:string |
| http://purl.uniprot.org/citations/7697714 | http://purl.uniprot.org/core/title | "Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)."xsd:string |
| http://purl.uniprot.org/citations/7697714 | http://purl.uniprot.org/core/volume | "80"xsd:string |
| http://purl.uniprot.org/citations/7697714 | http://purl.uniprot.org/core/volume | "80"xsd:string |
| http://purl.uniprot.org/citations/7697714 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/7697714 |
| http://purl.uniprot.org/citations/7697714 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/7697714 |