Associated Papers
TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy.
Lanzafame M et al.
Human Mutation, 2022
Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND ): Time to Move Beyond the Skin.
Cordts I et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
Reduced levels of prostaglandin I2 synthase: a distinctive feature of the cancer-free trichothiodystrophy.
Lombardi A et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population.
Pugh J et al.
Jama Dermatology, 2019
Constructive rescue of TFIIH instability by an alternative isoform of XPD derived from a mutated XPD allele in mild but not severe XP-D/CS.
Horibata K et al.
Journal of Human Genetics, 2015
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