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This study found that non-pigmented hair follicles have significantly lower expression of nucleotide excision repair genes, which may be associated with reduced melanin production capacity in these follicles.

This study found that mimicking the XPD point mutation in mice resulted in trichothiodystrophy-like symptoms, supporting the role of basal transcription and DNA repair defects in the disease.

This study suggests a potential link between proteasome function and nucleotide excision repair in animal models with defects in the NER pathway, with implications for ageing.

This case report describes a young girl with trichothiodystrophy and suggests the need for early diagnosis and multidisciplinary interventions for her educational challenges.

This article reviews the role of vitamin D receptor in protecting the skin from UV radiation-induced damage and tumor formation, but it reports no new clinical results.