| http://purl.uniprot.org/citations/12509261 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12509261 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12509261 | http://www.w3.org/2000/01/rdf-schema#comment | "Cockayne syndrome (CS) is an inherited photosensitive neurodevelopmental disorder caused by a specific defect in the transcription-coupled repair (TCR) sub-pathway of NER. Remarkably, despite their DNA repair deficiency, CS patients do not develop skin cancer. Here, we present a mouse model for CS complementation group A. Like cells from CS-A patients, Csa-/-mouse embryonic fibroblasts (MEFs): (i) are ultraviolet (UV)-sensitive; (ii) show normal unscheduled DNA synthesis (indicating that the global genome repair sub-pathway is unaffected); (iii) fail to resume RNA synthesis after UV-exposure and (iv) are unable to remove cyclobutane pyrimidine dimers (CPD) photolesions from the transcribed strand of active genes. CS-A mice exhibit UV-sensitivity and pronounced age-dependent loss of retinal photoreceptor cells but otherwise fail to show the severe developmental and neurological abnormalities of the human syndrome. In contrast to human CS, Csa-/-animals develop skin tumors after chronic exposure to UV light, indicating that TCR in mice protects from UV-induced skin cancer development. Strikingly, inactivation of one Xpc allele (encoding a component of the damage recognition complex involved in the global genome repair sub-pathway) in Csa-/-mice resulted in a strongly enhanced UV-mediated skin cancer sensitivity, indicating that in a TC repair defective background, the Xpc gene product may be a rate-limiting factor in the removal of UV-induced DNA lesions."xsd:string |
| http://purl.uniprot.org/citations/12509261 | http://purl.org/dc/terms/identifier | "doi:10.1016/s1568-7864(01)00010-6"xsd:string |
| http://purl.uniprot.org/citations/12509261 | http://purl.org/dc/terms/identifier | "doi:10.1016/s1568-7864(01)00010-6"xsd:string |
| http://purl.uniprot.org/citations/12509261 | http://purl.uniprot.org/core/author | "Friedberg E.C."xsd:string |
| http://purl.uniprot.org/citations/12509261 | http://purl.uniprot.org/core/author | "Friedberg E.C."xsd:string |
| http://purl.uniprot.org/citations/12509261 | http://purl.uniprot.org/core/author | "Richardson J.A."xsd:string |
| http://purl.uniprot.org/citations/12509261 | http://purl.uniprot.org/core/author | "Richardson J.A."xsd:string |
| http://purl.uniprot.org/citations/12509261 | http://purl.uniprot.org/core/author | "de Wit J."xsd:string |
| http://purl.uniprot.org/citations/12509261 | http://purl.uniprot.org/core/author | "de Wit J."xsd:string |
| http://purl.uniprot.org/citations/12509261 | http://purl.uniprot.org/core/author | "Hoeijmakers J.H.J."xsd:string |
| http://purl.uniprot.org/citations/12509261 | http://purl.uniprot.org/core/author | "Hoeijmakers J.H.J."xsd:string |
| http://purl.uniprot.org/citations/12509261 | http://purl.uniprot.org/core/author | "Smit B."xsd:string |
| http://purl.uniprot.org/citations/12509261 | http://purl.uniprot.org/core/author | "Smit B."xsd:string |
| http://purl.uniprot.org/citations/12509261 | http://purl.uniprot.org/core/author | "van der Horst G.T.J."xsd:string |
| http://purl.uniprot.org/citations/12509261 | http://purl.uniprot.org/core/author | "van der Horst G.T.J."xsd:string |
| http://purl.uniprot.org/citations/12509261 | http://purl.uniprot.org/core/author | "Bootsma D."xsd:string |
| http://purl.uniprot.org/citations/12509261 | http://purl.uniprot.org/core/author | "Bootsma D."xsd:string |
| http://purl.uniprot.org/citations/12509261 | http://purl.uniprot.org/core/author | "Gorgels T.G.M.F."xsd:string |
| http://purl.uniprot.org/citations/12509261 | http://purl.uniprot.org/core/author | "Gorgels T.G.M.F."xsd:string |
| http://purl.uniprot.org/citations/12509261 | http://purl.uniprot.org/core/author | "Kamp Y."xsd:string |
| http://purl.uniprot.org/citations/12509261 | http://purl.uniprot.org/core/author | "Kamp Y."xsd:string |
| http://purl.uniprot.org/citations/12509261 | http://purl.uniprot.org/core/author | "Meira L."xsd:string |
| http://purl.uniprot.org/citations/12509261 | http://purl.uniprot.org/core/author | "Meira L."xsd:string |