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-based liquid biopsy reveals wider mutational profile with therapy resistance and metastasis susceptibility signatures in early-stage breast cancer patients.
Bharde A et al.
The Journal of Liquid Biopsy, 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
Ercc2/Xpd deficiency results in failure of digestive organ growth in zebrafish with elevated nucleolar stress.
Ma J et al.
Iscience, 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
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
XPD/ERCC2 mutations interfere in cellular responses to oxidative stress.
Lerner LK et al.
Mutagenesis, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Structural basis of TFIIH activation for nucleotide excision repair.
Kokic G et al.
Nature Communications, 2019
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
Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population.
Pugh J et al.
Jama Dermatology, 2019
Repair protein persistence at DNA lesions characterizes XPF defect with Cockayne syndrome features.
Sabatella M et al.
Nucleic Acids Research, 2018
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
Clinical and molecular epidemiological study of xeroderma pigmentosum in China: A case series of 19 patients.
Zhou EY et al.
The Journal of Dermatology, 2017
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
TFIIH subunit alterations causing xeroderma pigmentosum and trichothiodystrophy specifically disturb several steps during transcription.
Singh A et al.
American 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
New mutation in the mouse Xpd/Ercc2 gene leads to recessive cataracts.
Kunze S et al.
Plos One, 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
Mutations in TFIIH causing trichothiodystrophy are responsible for defects in ribosomal RNA production and processing.
Nonnekens J et al.
Human Molecular Genetics, 2013
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
Effects of compound heterozygosity at the Xpd locus on cancer and ageing in mouse models.
van de Ven M et al.
Dna Repair, 2012
Generation of DNA single-strand displacement by compromised nucleotide excision repair.
Godon C et al.
The Embo Journal, 2012
TFIIH is an elongation factor of RNA polymerase I.
Assfalg R et al.
Nucleic Acids Research, 2012
Age-related neuronal degeneration: complementary roles of nucleotide excision repair and transcription-coupled repair in preventing neuropathology.
Jaarsma D et al.
Plos Genetics, 2011
MMXD, a TFIIH-independent XPD-MMS19 protein complex involved in chromosome segregation.
Ito S et al.
Molecular Cell, 2010
Effect of the anti-neoplastic drug doxorubicin on XPD-mutated DNA repair-deficient human cells.
Saffi J et al.
Dna Repair, 2010
Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity.
Cleaver JE et al.
Nature Reviews. Genetics, 2009
An Xpb mouse model for combined xeroderma pigmentosum and cockayne syndrome reveals progeroid features upon further attenuation of DNA repair.
Andressoo JO et al.
Molecular and Cellular Biology, 2009
Comparative study of nucleotide excision repair defects between XPD-mutated fibroblasts derived from trichothiodystrophy and xeroderma pigmentosum patients.
Nishiwaki T et al.
Dna Repair, 2008
Crystal structure of the FeS cluster-containing nucleotide excision repair helicase XPD.
Wolski SC et al.
Plos Biology, 2008
DNA damage and repair: from molecular mechanisms to health implications.
Altieri F et al.
Antioxidants & Redox Signaling, 2008
Adaptive stress response in segmental progeria resembles long-lived dwarfism and calorie restriction in mice.
van de Ven M et al.
Plos Genetics, 2006
Nucleotide excision repair disorders and the balance between cancer and aging.
Andressoo JO et al.
Cell Cycle (georgetown, Tex.), 2006
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
Restoring DNA repair capacity of cells from three distinct diseases by XPD gene-recombinant adenovirus.
Armelini MG et al.
Cancer Gene Therapy, 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