Associated Papers
Translocation mechanism of xeroderma pigmentosum group D protein on single-stranded DNA and genetic disease etiology.
Paul T et al.
Nature Communications, 2025
ctDNA as a Molecular Biomarker in the Phase II Trial of Imatinib plus Binimetinib in Patients with Advanced Gastrointestinal Stromal Tumor.
Kelly CM et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Anti-tumorigenic properties by trichothiodystrophy mutations in melanocytic cells.
Paudel R et al.
Nar Cancer, 2025
Multicenter In-House Evaluation of an Amplicon-Based Next-Generation Sequencing Panel for Comprehensive Molecular Profiling.
Jantus-Lewintre E et al.
Molecular Diagnosis & Therapy, 2025
Nucleotide Excision Repair: Insights into Canonical and Emerging Functions of the Transcription/DNA Repair Factor TFIIH.
Zachayus A et al.
Genes, 2025
Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.
Vanni I et al.
Journal of Translational Medicine, 2024
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
Case report: Identification of a novel heterozygous germline ERCC2 mutation in a patient with dermatofibrosarcoma protuberans.
Zhang Q et al.
Frontiers in Oncology, 2022
Whole-exome sequencing and host cell reactivation assay lead to a diagnosis of xeroderma pigmentosum group D with mild ultraviolet radiation sensitivity.
Sugaya M et al.
The Journal of Dermatology, 2021
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
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
Role of XPD in cellular functions: To TFIIH and beyond.
Houten BV et al.
Dna Repair, 2016
A 10-year follow-up of a child with mild case of xeroderma pigmentosum complementation group D diagnosed by whole-genome sequencing.
Ono R et al.
Photodermatology, Photoimmunology & Photomedicine, 2016
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 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
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Bodian DL et al.
Plos One, 2014
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
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
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
A yeast four-hybrid system identifies Cdk-activating kinase as a regulator of the XPD helicase, a subunit of transcription factor IIH.
Sandrock B et al.
The Journal of Biological Chemistry, 2001
Identification of ICR170-induced XPD mutations in UV-sensitive CHO cells.
Tebbs RS et al.
Environmental and Molecular Mutagenesis, 2001
A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.
Cleaver JE et al.
Human Mutation, 1999
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
Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.
Taylor EM et al.
Proceedings of the National Academy of Sciences of the United States of America, 1997
Xpd, a structural bridge and a functional link.
Chen J et al.
Cell Cycle (georgetown, Tex.), 0
Overview of xeroderma pigmentosum proteins architecture, mutations and post-translational modifications.
Feltes BC et al.
Mutation Research. Reviews in Mutation Research, 0