Associated Papers
TFIIH central activity in nucleotide excision repair to prevent disease.
Theil AF et al.
Dna Repair, 2023
Facial clues to the photosensitive trichothiodystrophy phenotype in childhood.
Pascolini G et al.
Journal of Human Genetics, 2023
TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy.
Lanzafame M et al.
Human Mutation, 2022
Decoding Cancer Variants of Unknown Significance for Helicase-Nuclease-RPA Complexes Orchestrating DNA Repair During Transcription and Replication.
Tsutakawa SE et al.
Frontiers in Molecular Biosciences, 2021
34966786 (PubMed )
Supplement: Table3.XLSX › ERCC2
Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum.
Zhou X et al.
European Journal of Human Genetics : Ejhg, 2013
Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum.
Tamura D et al.
European Journal of Human Genetics : Ejhg, 2012
Brittle hair, developmental delay, neurologic abnormalities, and photosensitivity in a 4-year-old girl.
Zhou X et al.
Journal of the American Academy of Dermatology, 2010
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