H. Steingrimsdottir

TL;DR: The results with these revertants strongly support the model proposed earlier, that CHO-K1 cells carry a copy of the Ku80 gene (XRCC5) silenced by hypermethylation, and previously proposed ATP-binding and phosphorylation sites are not required for Ku80 activity.

TL;DR: The sites of the mutations in the CSB gene were analyzed in 16 patients to determine the spectrum of mutations in this gene and to see whether the nature of the mutation correlates with the type and severity of the clinical symptoms.

TL;DR: The results have enabled us to assess current models of mRNA splicing and emphasize the importance of the polypyrimidine tract in splice acceptor sites, support the role of the exon as the unit of assembly for splicing, and are consistent with a model proposing a stem-loop structure for exon 8 in the hprt mRNA.

TL;DR: This work has identified causative mutations in XPD in four TTD patients and suggested relationships between different domains in the gene and its roles in excision repair and transcription.

TL;DR: A detailed molecular and cellular study of the effects of UV light on cells cultured from three further TTD patients who did not exhibit photosensitivity is found, which poses a number of questions about the relationship between the molecular defect in DNA repair and the clinical symptoms of xeroderma pigmentosum and TTD.