Associated Papers
Quantitative functional profiling of ERCC2 mutations deciphers cisplatin sensitivity in bladder cancer.
Börcsök J et al.
The Journal of Clinical Investigation, 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
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
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Maroofian R et al.
Brain : a Journal of Neurology, 2023
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
Establishment of a human induced pluripotent stem cell line, KMUGMCi003-A, from a patient with trichothiodystrophy 1 (TTD1) bearing compound heterozygous missense mutations in the ERCC2 gene.
Ura H et al.
Stem Cell Research, 2022
Phosphorylation of XPD drives its mitotic role independently of its DNA repair and transcription functions.
Compe E et al.
Science Advances, 2022
Case report: Identification of a novel heterozygous germline ERCC2 mutation in a patient with dermatofibrosarcoma protuberans.
Zhang Q et al.
Frontiers in Oncology, 2022
Cerebro-oculo-facio-skeletal syndrome caused by the homozygous pathogenic variant Gly47Arg in ERCC2.
Reunert J et al.
American Journal of Medical Genetics. Part A, 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
Expansion of the genotypic and phenotypic spectrum of xeroderma pigmentosum in Chinese population.
Zhang J et al.
Photodermatology, Photoimmunology & Photomedicine, 2017
Elevated Urinary Levels of 8-Hydroxy-2'-deoxyguanosine in a Japanese Child of Xeroderma Pigmentosum/Cockayne Syndrome Complex with Infantile Onset of Nephrotic Syndrome.
Kondo D et al.
The Tohoku Journal of Experimental Medicine, 2016
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
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
A Drosophila XPD model links cell cycle coordination with neuro-development and suggests links to cancer.
Stettler K et al.
Disease Models & Mechanisms, 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
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
Cockayne syndrome-xeroderma pigmentosum complex with demyelination: A rare association.
Singh UR et al.
Indian Journal of Human Genetics, 2012
Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity.
Cleaver JE et al.
Nature Reviews. Genetics, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Crystal structure of the FeS cluster-containing nucleotide excision repair helicase XPD.
Wolski SC et al.
Plos Biology, 2008
XPF with mutations in its conserved nuclease domain is defective in DNA repair but functions in TRF2-mediated telomere shortening.
Wu Y et al.
Dna Repair, 2007
Rescue of progeria in trichothiodystrophy by homozygous lethal Xpd alleles.
Andressoo JO et al.
Plos Biology, 2006
An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria.
Andressoo JO et al.
Cancer Cell, 2006
Two new XPD patients compound heterozygous for the same mutation demonstrate diverse clinical features.
Fujimoto M et al.
The Journal of Investigative Dermatology, 2005
Rare diseases provide rare insights into DNA repair pathways, TFIIH, aging and cancer center.
Bohr VA et al.
Dna Repair, 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
TFIIH with inactive XPD helicase functions in transcription initiation but is defective in DNA repair.
Winkler GS et al.
The Journal of Biological Chemistry, 2000
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
Disease-causing missense mutations in human DNA helicase disorders.
Suhasini AN et al.
Mutation Research, 0