Trichothiodystrophy (TTD) is a rare hereditary multisystem disorder associated with defects in nucleotide excision repair (NER) as a consequence of mutations in XPD, XPB or TTDA, three genes that are all related to TFIIH, the multiprotein complex involved in NER and transcription. Here we show that all the mutations found in TTD cases, irrespective of whether they are homozygotes, hemizygotes or compound heterozygotes, cause a substantial and specific reduction (by up to 70%) in the cellular concentration of TFIIH. Intriguingly, the degree of reduction in the level of TFIIH does not correlate with the severity of the pathological phenotype, suggesting that the severity of the clinical features in TTD cannot be related solely to the effects ...
Fidelity in transcription of the gene requires assembly of set of proteins around the promoter,upon ...
[[abstract]]To get a clue to understand how mutations in the XPD gene result in different skin cance...
International audienceDefects in nucleotide excision repair have been shown to be associated with th...
Trichothiodystrophy (TTD) is a rare hereditary multisystem disorder associated with defects in nucle...
International audienceTrichothiodystrophy (TTD) is a rare autosomal recessive disorder characterized...
The transcription factor TFIIH is involved in both basal transcription and DNA repair. Mutations in ...
Most trichothiodystrophy (TTD) patients present mutations in the xeroderma pigmentosum D (XPD) gene,...
The transcription factor TFIIH is involved in both basal transcription and DNA repair. Mutations in ...
The general transcription factor IIE (TFIIE) is essential for transcription initiation by RNA polyme...
Trichothiodystrophy (TTD) is a rare, autosomal recessive disorder characterized by sulfur-deficient ...
Most trichothiodystrophy (TTD) patients present mutations in the xeroderma pigmentosum D (XPD) gene,...
Mutations in genes encoding the ERCC3 (XPB), ERCC2 (XPD), and GTF2H5 (p8 or TTD-A) subunits of the t...
Trichothiodystrophy (TTD) is a rare autosomal premature-ageing and neuroectodermal disease. The pho-...
Alterations in genes involved in nucleotide excision repair (NER) are associated with three genetic ...
The rare recessive developmental disorder Trichothiodystrophy (TTD) is characterized by brittle hair...
Fidelity in transcription of the gene requires assembly of set of proteins around the promoter,upon ...
[[abstract]]To get a clue to understand how mutations in the XPD gene result in different skin cance...
International audienceDefects in nucleotide excision repair have been shown to be associated with th...
Trichothiodystrophy (TTD) is a rare hereditary multisystem disorder associated with defects in nucle...
International audienceTrichothiodystrophy (TTD) is a rare autosomal recessive disorder characterized...
The transcription factor TFIIH is involved in both basal transcription and DNA repair. Mutations in ...
Most trichothiodystrophy (TTD) patients present mutations in the xeroderma pigmentosum D (XPD) gene,...
The transcription factor TFIIH is involved in both basal transcription and DNA repair. Mutations in ...
The general transcription factor IIE (TFIIE) is essential for transcription initiation by RNA polyme...
Trichothiodystrophy (TTD) is a rare, autosomal recessive disorder characterized by sulfur-deficient ...
Most trichothiodystrophy (TTD) patients present mutations in the xeroderma pigmentosum D (XPD) gene,...
Mutations in genes encoding the ERCC3 (XPB), ERCC2 (XPD), and GTF2H5 (p8 or TTD-A) subunits of the t...
Trichothiodystrophy (TTD) is a rare autosomal premature-ageing and neuroectodermal disease. The pho-...
Alterations in genes involved in nucleotide excision repair (NER) are associated with three genetic ...
The rare recessive developmental disorder Trichothiodystrophy (TTD) is characterized by brittle hair...
Fidelity in transcription of the gene requires assembly of set of proteins around the promoter,upon ...
[[abstract]]To get a clue to understand how mutations in the XPD gene result in different skin cance...
International audienceDefects in nucleotide excision repair have been shown to be associated with th...