| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 1980289 | DNA Repair | 2012 | 10 Pages |
Abstract
⺠Metabolic phenotypes of TTD and XPCS mice were complemented in compound heterozygotes. ⺠TTD dominance over XPCS was observed for UV-related endpoints. ⺠Biallelic effects may be a potent source of disease heterogeneity in compound heterozygous patients.
Keywords
RRSrecovery of RNA synthesistranscription-coupled NERTC-NERtranscription factor IIHTFIIHGG-NERUDSSSPIGF-1RIGF-1TTDMDFqPCRSCCmRNAMEFAUCNERxeroderma pigmentosummessenger RNAquantitative real-time RT-PCRtrichothiodystrophyUltraviolet radiationionizing radiationnucleotide excision repairCancerUnscheduled DNA synthesisCockayne syndromeinsulin-like growth factor 1area under the curvemouse embryonic fibroblastwild typeCompound heterozygoteCompound heterozygositySquamous cell carcinomaInsulin-like growth factor receptor
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Authors
Marieke van de Ven, Jaan-Olle Andressoo, Gijsbertus T.J. van der Horst, Jan H.J. Hoeijmakers, James R. Mitchell,