10 citations
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May 2012 in “PloS one” 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.
August 2015 in “Free Radical Biology and Medicine” 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.
188 citations
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June 1998 in “Molecular cell” 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.
51 citations
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September 2008 in “Journal of Investigative Dermatology” 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.
5 citations
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July 1996 in “Journal of Cutaneous Medicine and Surgery” This study explains that while trichothiodystrophy and xeroderma pigmentosum share genetic defects, TTD patients primarily exhibit issues in transcription initiation, not the increased skin cancer risk seen in XP.