Article
A mouse model for the basal transcription/DNA repair syndrome trichothiodystrophy.
Molecular cell - 1 Jun 1998
de Boer J, de Wit J, van Steeg H, Berg R J, Morreau H, Visser P, Lehmann A R, Duran M, Hoeijmakers J H, Weeda G
Abstract excerpt
The sun-sensitive form of the severe neurodevelopmental, brittle hair disorder trichothiodystrophy (TTD) is caused by point mutations in the essential XPB and XPD helicase subunits of the dual functional DNA repair/basal transcription factor TFIIH. The phenotype is hypothesized to be in part deri...
Topics
- Animals
- Artificial Gene Fusion
- Cells, Cultured
- DNA Helicases
- DNA Repair
- DNA-Binding Proteins
- Disease Models, Animal
- Female
- Growth
- Hair
- Hair Diseases
- Humans
- Male
- Mice
- Mice, Inbred C57BL
- Mice, Mutant Strains
- Mutagenesis, Site-Directed
- Mutation