Associated Papers
Deficiencies in germline DNA repair are associated with early-onset gastrointestinal cancers and inform precision prevention strategies.
Yang W et al.
Journal of Translational Medicine, 2025
DNA repair helicases: from mechanistic understanding to therapeutic implications.
Menon V et al.
Nar Cancer, 2025
Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.
Liu J et al.
Nature Genetics, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Alterations in DNA Damage Repair Genes Before and After Neoadjuvant Cisplatin-based Chemotherapy in Muscle-invasive Bladder Cancer.
Lemberger U et al.
European Urology Open Science, 2025
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
Tumor genomic profiling and personalized tracking of circulating tumor DNA in Vietnamese colorectal cancer patients.
Nguyen HT 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
Stage IV Colorectal Cancer Patients with High Risk Mutation Profiles Survived 16 Months Longer with Individualized Therapies.
Hendricks A et al.
Cancers, 2020
Transcription preinitiation complex structure and dynamics provide insight into genetic diseases.
Yan C et al.
Nature Structural & Molecular Biology, 2019
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
A Turkish trichothiodystrophy patient with homozygous XPD mutation and genotype-phenotype relationship.
Pehlivan D et al.
The Journal of Dermatology, 2012
Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity.
Cleaver JE et al.
Nature Reviews. Genetics, 2009
New clinico-genetic classification of trichothiodystrophy.
Morice-Picard F et al.
American Journal of Medical Genetics. Part A, 2009
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
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
Restoration of nucleotide excision repair in a helicase-deficient XPD mutant from intragenic suppression by a trichothiodystrophy mutation.
George JW et al.
Molecular and Cellular Biology, 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