Associated Papers
Dynamic conformational switching underlies TFIIH function in transcription and DNA repair and impacts genetic diseases.
Yu J et al.
Nature Communications, 2023
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.
Fassihi H et al.
Proceedings of the National Academy of Sciences of the United States of America, 2016
Constructive rescue of TFIIH instability by an alternative isoform of XPD derived from a mutated XPD allele in mild but not severe XP-D/CS.
Horibata K et al.
Journal of Human Genetics, 2015
Phenotype-specific adverse effects of XPD mutations on human prenatal development implicate impairment of TFIIH-mediated functions in placenta.
Moslehi R et al.
European Journal of Human Genetics : Ejhg, 2012
Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy.
Botta E et al.
Human Molecular Genetics, 2002
Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy.
Viprakasit V et al.
Human Molecular Genetics, 2001
Nucleotide excision repair of DNA with recombinant human proteins: definition of the minimal set of factors, active forms of TFIIH, and modulation by CAK.
Araújo SJ et al.
Genes & Development, 2000
Mutations in XPB and XPD helicases found in xeroderma pigmentosum patients impair the transcription function of TFIIH.
Coin F et al.
The Embo Journal, 1999
A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.
Cleaver JE et al.
Human Mutation, 1999
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