Associated Papers
The Converging Roles of Nucleases and Helicases in Genome Maintenance and the Aging Process.
Margariti A et al.
Life (basel, Switzerland), 2025
Trichothiodystrophy-causative pathogenic variants impair a cooperative action of TFIIH and DDX1 in R-loop processing.
Ferri D et al.
Nucleic Acids Research, 2025
Nucleotide Excision Repair: Insights into Canonical and Emerging Functions of the Transcription/DNA Repair Factor TFIIH.
Zachayus A et al.
Genes, 2025
The role of Transcription Factor IIH complex in nucleotide excision repair.
Hoag A et al.
Environmental and Molecular Mutagenesis, 2024
Dynamic conformational switching underlies TFIIH function in transcription and DNA repair and impacts genetic diseases.
Yu J et al.
Nature Communications, 2023
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
Transcription preinitiation complex structure and dynamics provide insight into genetic diseases.
Yan C et al.
Nature Structural & Molecular Biology, 2019
Functional interplay between TFIIH and KAT2A regulates higher-order chromatin structure and class II gene expression.
Sandoz J et al.
Nature Communications, 2019
The complete structure of the human TFIIH core complex.
Greber BJ et al.
Elife, 2019
Chronic oxidative damage together with genome repair deficiency in the neurons is a double whammy for neurodegeneration: Is damage response signaling a potential therapeutic target?
Wang H et al.
Mechanisms of Ageing and Development, 2017
TFIIH subunit alterations causing xeroderma pigmentosum and trichothiodystrophy specifically disturb several steps during transcription.
Singh A et al.
American Journal of Human Genetics, 2015
Genome-wide discovery of human splicing branchpoints.
Mercer TR et al.
Genome Research, 2015
DNA helicases associated with genetic instability, cancer, and aging.
Suhasini AN et al.
Advances in Experimental Medicine and Biology, 2013
Trichothiodystrophy: from basic mechanisms to clinical implications.
Stefanini M et al.
Dna Repair, 2010
Trichothiodystrophy view from the molecular basis of DNA repair/transcription factor TFIIH.
Hashimoto S et al.
Human Molecular Genetics, 2009
Neurological defects in trichothiodystrophy reveal a coactivator function of TFIIH.
Compe E et al.
Nature Neuroscience, 2007
Distinct roles for the XPB/p52 and XPD/p44 subcomplexes of TFIIH in damaged DNA opening during nucleotide excision repair.
Coin F et al.
Molecular Cell, 2007
Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.
Oh KS et al.
Human Mutation, 2006
Characterization of ERCC3 mutations in the Chinese hamster ovary 27-1, UV24 and MMC-2 cell lines.
Hall H et al.
Mutation Research, 2006
Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes.
Itin PH et al.
Journal of the American Academy of Dermatology, 2001
Distinct roles for the helicases of TFIIH in transcript initiation and promoter escape.
Bradsher J et al.
The Journal of Biological Chemistry, 2000
The relative expression of mutated XPB genes results in xeroderma pigmentosum/Cockayne's syndrome or trichothiodystrophy cellular phenotypes.
Riou L et al.
Human Molecular Genetics, 1999
A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.
Cleaver JE et al.
Human Mutation, 1999
Disorders of DNA replication and repair.
Auerbach AD et al.
Current Opinion in Pediatrics, 1997
A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.
Weeda G et al.
American Journal of Human Genetics, 1997
Disease-causing missense mutations in human DNA helicase disorders.
Suhasini AN et al.
Mutation Research, 0
Trichothiodystrophy: Molecular insights and mechanisms of pathogenicity.
Lanzafame M et al.
Mutation Research. Reviews in Mutation Research, 0