Article
Anti-tumorigenic properties by trichothiodystrophy mutations in melanocytic cells.
NAR cancer - 1 Sept 2025
Paudel Rupesh, Sorger Lena F, Hufnagel Anita, Pasemann Mira, Hove Tamsanqa, Marquardt André, Kneitz Susanne, Schlosser Andreas, Kisker Caroline, Kuper Jochen, Meierjohann Svenja
Abstract excerpt
Germline mutations in the DNA repair helicase XPD can cause the diseases xeroderma pigmentosum (XP) and trichothiodystrophy (TTD). XP patients bear an increased risk of skin cancer including melanoma. This is not observed for TTD patients despite DNA repair defects. To examine whether TTD cells harbor features counteracting tumorigenesis, we developed a TTD melanoma cell model containing the XPD variant R722W....
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