Associated Papers
The role of Transcription Factor IIH complex in nucleotide excision repair.
Hoag A et al.
Environmental and Molecular Mutagenesis, 2024
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression.
Garcia-Moreno H et al.
Brain : a Journal of Neurology, 2023
Dynamic conformational switching underlies TFIIH function in transcription and DNA repair and impacts genetic diseases.
Yu J et al.
Nature Communications, 2023
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 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
How to limit the speed of a motor: the intricate regulation of the XPB ATPase and translocase in TFIIH.
Kappenberger J et al.
Nucleic Acids Research, 2020
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
Repair protein persistence at DNA lesions characterizes XPF defect with Cockayne syndrome features.
Sabatella M et al.
Nucleic Acids Research, 2018
Xeroderma pigmentosum is a definite cause of Huntington's disease-like syndrome.
Garcia-Moreno H et al.
Annals of Clinical and Translational Neurology, 2018
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.
Calmels N et al.
Orphanet Journal of Rare Diseases, 2016
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.
Fassihi H et al.
Proceedings of the National Academy of Sciences of the United States of America, 2016
TFIIH subunit alterations causing xeroderma pigmentosum and trichothiodystrophy specifically disturb several steps during transcription.
Singh A et al.
American Journal of Human Genetics, 2015
ARCH domain of XPD, an anchoring platform for CAK that conditions TFIIH DNA repair and transcription activities.
Abdulrahman W et al.
Proceedings of the National Academy of Sciences of the United States of America, 2013
DNA helicases associated with genetic instability, cancer, and aging.
Suhasini AN et al.
Advances in Experimental Medicine and Biology, 2013
Lack of CAK complex accumulation at DNA damage sites in XP-B and XP-B/CS fibroblasts reveals differential regulation of CAK anchoring to core TFIIH by XPB and XPD helicases during nucleotide excision repair.
Zhu Q et al.
Dna Repair, 2012
UV-induced histone H2AX phosphorylation and DNA damage related proteins accumulate and persist in nucleotide excision repair-deficient XP-B cells.
Oh KS et al.
Dna Repair, 2011
The NER proteins XPC and CSB, but not ERCC1, regulate the sensitivity to the novel DNA binder S23906: implications for recognition and repair of antitumor alkylators.
Rocca CJ et al.
Biochemical Pharmacology, 2010
True lies: the double life of the nucleotide excision repair factors in transcription and DNA repair.
Le May N et al.
Journal of Nucleic Acids, 2010
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
XPB induces C1D expression to counteract UV-induced apoptosis.
Li G et al.
Molecular Cancer Research : Mcr, 2010
Interacting partners of the Tfb2 subunit from yeast TFIIH.
Kainov DE et al.
Dna Repair, 2010
The long unwinding road: XPB and XPD helicases in damaged DNA opening.
Oksenych V et al.
Cell Cycle (georgetown, Tex.), 2010
Telomere attrition and genomic instability in xeroderma pigmentosum type-b deficient fibroblasts under oxidative stress.
Ting AP et al.
Journal of Cellular and Molecular Medicine, 2010
Structural basis for group A trichothiodystrophy.
Kainov DE et al.
Nature Structural & Molecular Biology, 2008
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
Transcriptional profiles of unirradiated or UV-irradiated human cells expressing either the cancer-prone XPB/CS allele or the noncancer-prone XPB/TTD allele.
da Costa RM et al.
Oncogene, 2005
Phosphorylation of XPB helicase regulates TFIIH nucleotide excision repair activity.
Coin F et al.
The Embo Journal, 2004
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
Mutations in XPB and XPD helicases found in xeroderma pigmentosum patients impair the transcription function of TFIIH.
Coin F et al.
The Embo Journal, 1999
A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.
Cleaver JE et al.
Human Mutation, 1999
Mechanism of open complex and dual incision formation by human nucleotide excision repair factors.
Evans E et al.
The Embo Journal, 1997
Retrovirus-mediated gene transfer corrects DNA repair defect of xeroderma pigmentosum cells of complementation groups A, B and C.
Zeng L et al.
Gene Therapy, 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
Cockayne syndrome pathogenesis: lessons from mouse models.
Jaarsma D et al.
Mechanisms of Ageing and Development, 0
Overview of xeroderma pigmentosum proteins architecture, mutations and post-translational modifications.
Feltes BC et al.
Mutation Research. Reviews in Mutation Research, 0