| http://purl.uniprot.org/citations/10416615 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10416615 | http://www.w3.org/2000/01/rdf-schema#comment | "Patients with the nucleotide excision repair (NER) disorder xeroderma pigmentosum (XP) are highly predisposed to develop sunlight-induced skin cancer, in remarkable contrast to photosensitive NER-deficient trichothiodystrophy (TTD) patients carrying mutations in the same XPD gene. XPD encodes a helicase subunit of the dually functional DNA repair/basal transcription complex TFIIH. The pleiotropic disease phenotype is hypothesized to be, in part, derived from a repair defect causing UV sensitivity and, in part, from a subtle, viable basal transcription deficiency accounting for the cutaneous, developmental, and the typical brittle hair features of TTD. To understand the relationship between deficient NER and tumor susceptibility, we used a mouse model for TTD that mimics an XPD point mutation of a TTD patient in the mouse germline. Like the fibroblasts from the patient, mouse cells exhibit a partial NER defect, evident from the reduced UV-induced DNA repair synthesis (residual repair capacity approximately 25%), limited recovery of RNA synthesis after UV exposure, and a relatively mild hypersensitivity to cell killing by UV or 7,12-dimethylbenz[a]anthracene. In accordance with the cellular studies, TTD mice exhibit a modestly increased sensitivity to UV-induced inflammation and hyperplasia of the skin. In striking contrast to the human syndrome, TTD mice manifest a dear susceptibility to UV- and 7,12-dimethylbenz[a]anthracene-induced skin carcinogenesis, albeit not as pronounced as the totally NER-deficient XPA mice. These findings open up the possibility that TTD is associated with a so far unnoticed cancer predisposition and support the notion that a NER deficiency enhances cancer susceptibility. These findings have important implications for the etiology of the human disorder and for the impact of NER on carcinogenesis."xsd:string |
| http://purl.uniprot.org/citations/10416615 | http://purl.uniprot.org/core/author | "Weeda G."xsd:string |
| http://purl.uniprot.org/citations/10416615 | http://purl.uniprot.org/core/author | "de Wit J."xsd:string |
| http://purl.uniprot.org/citations/10416615 | http://purl.uniprot.org/core/author | "van der Horst G.T."xsd:string |
| http://purl.uniprot.org/citations/10416615 | http://purl.uniprot.org/core/author | "Bootsma D."xsd:string |
| http://purl.uniprot.org/citations/10416615 | http://purl.uniprot.org/core/author | "Hoeijmakers J.H."xsd:string |
| http://purl.uniprot.org/citations/10416615 | http://purl.uniprot.org/core/author | "van Steeg H."xsd:string |
| http://purl.uniprot.org/citations/10416615 | http://purl.uniprot.org/core/author | "van Kreijl C.F."xsd:string |
| http://purl.uniprot.org/citations/10416615 | http://purl.uniprot.org/core/author | "de Boer J."xsd:string |
| http://purl.uniprot.org/citations/10416615 | http://purl.uniprot.org/core/author | "Beems R.B."xsd:string |
| http://purl.uniprot.org/citations/10416615 | http://purl.uniprot.org/core/author | "Berg R.J."xsd:string |
| http://purl.uniprot.org/citations/10416615 | http://purl.uniprot.org/core/author | "de Gruijl F.R."xsd:string |
| http://purl.uniprot.org/citations/10416615 | http://purl.uniprot.org/core/author | "Garssen J."xsd:string |
| http://purl.uniprot.org/citations/10416615 | http://purl.uniprot.org/core/author | "van Oostrum C.T."xsd:string |
| http://purl.uniprot.org/citations/10416615 | http://purl.uniprot.org/core/date | "1999"xsd:gYear |
| http://purl.uniprot.org/citations/10416615 | http://purl.uniprot.org/core/name | "Cancer Res"xsd:string |
| http://purl.uniprot.org/citations/10416615 | http://purl.uniprot.org/core/pages | "3489-3494"xsd:string |
| http://purl.uniprot.org/citations/10416615 | http://purl.uniprot.org/core/title | "Mouse model for the DNA repair/basal transcription disorder trichothiodystrophy reveals cancer predisposition."xsd:string |
| http://purl.uniprot.org/citations/10416615 | http://purl.uniprot.org/core/volume | "59"xsd:string |
| http://purl.uniprot.org/citations/10416615 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/10416615 |
| http://purl.uniprot.org/citations/10416615 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/10416615 |
| http://purl.uniprot.org/uniprot/#_A0A0U1RP06-mappedCitation-10416615 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/10416615 |
| http://purl.uniprot.org/uniprot/#_A0A0U1RNS4-mappedCitation-10416615 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/10416615 |
| http://purl.uniprot.org/uniprot/#_E9Q6K1-mappedCitation-10416615 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/10416615 |