Associated Papers
Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.
Liu J et al.
Nature Genetics, 2025
40664769 (PubMed )
Supplement: 41588_2025_2250_MOESM4_ESM.xlsx › ST6
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
37179334 (PubMed )
Supplement: 41467_2023_38416_MOESM3_ESM.pdf
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
34966786 (PubMed )
Supplement: Table4.XLSX › ERCC2
A novel nonsense mutation of ERCC2 in a Vietnamese family with xeroderma pigmentosum syndrome group D.
Bui CB et al.
Human Genome Variation, 2020
Transcription preinitiation complex structure and dynamics provide insight into genetic diseases.
Yan C et al.
Nature Structural & Molecular Biology, 2019
31110295 (PubMed )
Supplement: NIHMS1525853-supplement-3.pdf
Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population.
Pugh J et al.
Jama Dermatology, 2019
Identification of Damaging nsSNVs in HumanERCC2 Gene.
Fang S et al.
Chemical Biology & Drug Design, 2016
Some molecular and clinical aspects of genetic predisposition to malignant melanoma and tumours of various site of origin.
Debniak T
Hereditary Cancer in Clinical Practice, 2007
Rescue of progeria in trichothiodystrophy by homozygous lethal Xpd alleles.
Andressoo JO et al.
Plos Biology, 2006
XPD common variants and their association with melanoma and breast cancer risk.
Debniak T et al.
Breast Cancer Research and Treatment, 2006
Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene.
Broughton BC et al.
Human Molecular Genetics, 2001
Select a paper to view details