Associated Papers
The role of Transcription Factor IIH complex in nucleotide excision repair.
Hoag A et al.
Environmental and Molecular Mutagenesis, 2024
TFIIH central activity in nucleotide excision repair to prevent disease.
Theil AF et al.
Dna Repair, 2023
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
The complete structure of the human TFIIH core complex.
Greber BJ et al.
Elife, 2019
Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population.
Pugh J et al.
Jama Dermatology, 2019
Three-dimensional spatial analysis of missense variants in RTEL1 identifies pathogenic variants in patients with Familial Interstitial Pneumonia.
Sivley RM et al.
Bmc Bioinformatics, 2018
XPD-The Lynchpin of NER: Molecule, Gene, Polymorphisms, and Role in Colorectal Carcinogenesis.
Sameer AS et al.
Frontiers in Molecular Biosciences, 2018
Architecture of the Human and Yeast General Transcription and DNA Repair Factor TFIIH.
Luo J et al.
Molecular Cell, 2015
A Drosophila XPD model links cell cycle coordination with neuro-development and suggests links to cancer.
Stettler K et al.
Disease Models & Mechanisms, 2015
The rem mutations in the ATP-binding groove of the Rad3/XPD helicase lead to Xeroderma pigmentosum-Cockayne syndrome-like phenotypes.
Herrera-Moyano E et al.
Plos Genetics, 2014
DNA quality control by a lesion sensor pocket of the xeroderma pigmentosum group D helicase subunit of TFIIH.
Mathieu N et al.
Current Biology : Cb, 2013
DNA helicases associated with genetic instability, cancer, and aging.
Suhasini AN et al.
Advances in Experimental Medicine and Biology, 2013
Phenotype-specific adverse effects of XPD mutations on human prenatal development implicate impairment of TFIIH-mediated functions in placenta.
Moslehi R et al.
European Journal of Human Genetics : Ejhg, 2012
MMXD, a TFIIH-independent XPD-MMS19 protein complex involved in chromosome segregation.
Ito S et al.
Molecular Cell, 2010
Replication fork breakage and re-start: New insights into Rad3/XPD-associated deficiencies.
Moriel-Carretero M et al.
Cell Cycle (georgetown, Tex.), 2010
A postincision-deficient TFIIH causes replication fork breakage and uncovers alternative Rad51- or Pol32-mediated restart mechanisms.
Moriel-Carretero M et al.
Molecular Cell, 2010
Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity.
Cleaver JE et al.
Nature Reviews. Genetics, 2009
Crystal structure of the FeS cluster-containing nucleotide excision repair helicase XPD.
Wolski SC et al.
Plos Biology, 2008
Two new XPD patients compound heterozygous for the same mutation demonstrate diverse clinical features.
Fujimoto M et al.
The Journal of Investigative Dermatology, 2005
Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XPD patients.
Dubaele S et al.
Molecular Cell, 2003
Structural and functional characterization of the human DNA repair helicase XPD by comparative molecular modeling and site-directed mutagenesis of the bacterial repair protein UvrB.
Bienstock RJ et al.
The Journal of Biological Chemistry, 2003
Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy.
Botta E et al.
Human Molecular Genetics, 2002
Identification of ICR170-induced XPD mutations in UV-sensitive CHO cells.
Tebbs RS et al.
Environmental and Molecular Mutagenesis, 2001
p44/SSL1, the regulatory subunit of the XPD/RAD3 helicase, plays a crucial role in the transcriptional activity of TFIIH.
Seroz T et al.
The Journal of Biological Chemistry, 2000
UV damage causes uncontrolled DNA breakage in cells from patients with combined features of XP-D and Cockayne syndrome.
Berneburg M et al.
The Embo Journal, 2000
Cells from XP-D and XP-D-CS patients exhibit equally inefficient repair of UV-induced damage in transcribed genes but different capacity to recover UV-inhibited transcription.
van Hoffen A et al.
Nucleic Acids Research, 1999
A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.
Cleaver JE et al.
Human Mutation, 1999
Mutations in XPD helicase prevent its interaction and regulation by p44, another subunit of TFIIH, resulting in Xeroderma pigmentosum (XP) and trichothiodystrophy (TTD) phenotypes.
Coin F et al.
Pathologie-biologie, 1998
Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity.
Botta E et al.
American Journal of Human Genetics, 1998
Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH.
Coin F et al.
Nature Genetics, 1998
Cockayne syndrome group B (CSB) protein: at the crossroads of transcriptional networks.
Vélez-Cruz R et al.
Mechanisms of Ageing and Development, 0