International audienceTrichothiodystrophy (TTD) is a rare genetic disease with heterogeneous clinical features associated with specific deficiencies in nucleotide excision repair. Patients have brittle hair due to a reduced content of cysteine-rich matrix proteins. About 50% of the cases reported in the literature are photosensitive. In these patients an altered cellular response to UV, due to a specific deficiency in nucleotide excision repair, has been observed. The majority of repair-defective TTD patients have been assigned by complementation analysis to group D of xeroderma pigmentosum (XP). Recently, the human excision repair gene ERCC2 has been shown to correct the UV sensitivity of XP-D fibroblasts. In this work we describe the effe...
[[abstract]]To get a clue to understand how mutations in the XPD gene result in different skin cance...
The phenotypic consequences of a nucleotide excision repair (NER) defect in man are apparent from th...
Trichothiodystrophy (TTD), an autosomal recessive disorder characterized by sulfur-deficient brittle...
In several patients with the rare hereditary disorder trichothiodystrophy (TTD), a DNA repaire defec...
The sun-sensitive, cancer-prone genetic disorder xeroderma pigmentosum (XP) is associated in most ca...
The sun-sensitive, cancer-prone genetic disorder xeroderma pigmentosum (XP) is associated in most ca...
Trichothiodystrophy (TTD) is a rare autosomal recessive disease characterized by brittle hair with r...
International audienceTrichothiodystrophy (TTD) is a rare, autosomal recessive disorder characterize...
The human DNA excision repair gene ERCC-1 complements the ultraviolet light (UV) and mitomycin C (MM...
Most trichothiodystrophy (TTD) patients present mutations in the xeroderma pigmentosum D (XPD) gene,...
Trichothiodystrophy (TTD) is a rare autosomal recessive disorder characterized by brittle hair, ment...
International audienceTo understand the heterogeneity in genetic predisposition to skin cancer in di...
Most trichothiodystrophy (TTD) patients present mutations in the xeroderma pigmentosum D (XPD) gene,...
International audienceThe human XPB DNA helicase is a subunit of the DNA repair/basal transcription ...
International audienceDefects in nucleotide excision repair have been shown to be associated with th...
[[abstract]]To get a clue to understand how mutations in the XPD gene result in different skin cance...
The phenotypic consequences of a nucleotide excision repair (NER) defect in man are apparent from th...
Trichothiodystrophy (TTD), an autosomal recessive disorder characterized by sulfur-deficient brittle...
In several patients with the rare hereditary disorder trichothiodystrophy (TTD), a DNA repaire defec...
The sun-sensitive, cancer-prone genetic disorder xeroderma pigmentosum (XP) is associated in most ca...
The sun-sensitive, cancer-prone genetic disorder xeroderma pigmentosum (XP) is associated in most ca...
Trichothiodystrophy (TTD) is a rare autosomal recessive disease characterized by brittle hair with r...
International audienceTrichothiodystrophy (TTD) is a rare, autosomal recessive disorder characterize...
The human DNA excision repair gene ERCC-1 complements the ultraviolet light (UV) and mitomycin C (MM...
Most trichothiodystrophy (TTD) patients present mutations in the xeroderma pigmentosum D (XPD) gene,...
Trichothiodystrophy (TTD) is a rare autosomal recessive disorder characterized by brittle hair, ment...
International audienceTo understand the heterogeneity in genetic predisposition to skin cancer in di...
Most trichothiodystrophy (TTD) patients present mutations in the xeroderma pigmentosum D (XPD) gene,...
International audienceThe human XPB DNA helicase is a subunit of the DNA repair/basal transcription ...
International audienceDefects in nucleotide excision repair have been shown to be associated with th...
[[abstract]]To get a clue to understand how mutations in the XPD gene result in different skin cance...
The phenotypic consequences of a nucleotide excision repair (NER) defect in man are apparent from th...
Trichothiodystrophy (TTD), an autosomal recessive disorder characterized by sulfur-deficient brittle...