Associated Papers
Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.
Li J et al.
Genes & Diseases, 2026
Integrating evidence from protein domains to identify cancer driver mutations.
Ostroverkhova D et al.
Protein Science : a Publication of the Protein Society, 2026
Genotype-Phenotype Associations in a Robust Cohort of 69 Xeroderma Pigmentosum Patients across Türkiye: A Multicenter Study.
Baskurt D et al.
The British Journal of Dermatology, 2026
Inhibition of scheggia/SLC25A1 citrate transporter alleviates XPD deficits.
Cho DG et al.
Scientific Reports, 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
Trichothiodystrophy-causative pathogenic variants impair a cooperative action of TFIIH and DDX1 in R-loop processing.
Ferri D et al.
Nucleic Acids Research, 2025
Molecular insights into genodermatoses: Genetic findings from 43 patients.
Sama AD et al.
Archives of Dermatological Research, 2025
Nucleotide Excision Repair: Insights into Canonical and Emerging Functions of the Transcription/DNA Repair Factor TFIIH.
Zachayus A et al.
Genes, 2025
The clinical spectrum associated with ERCC5 mutations: Is there a relationship between phenotype and genotype?
Zhang J et al.
Pediatric Discovery, 2024
Insights from multi-omic modeling of neurodegeneration in xeroderma pigmentosum using an induced pluripotent stem cell system.
Badja C et al.
Cell Reports, 2024
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 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
Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression.
Garcia-Moreno H et al.
Brain : a Journal of Neurology, 2023
Dynamic conformational switching underlies TFIIH function in transcription and DNA repair and impacts genetic diseases.
Yu J et al.
Nature Communications, 2023
Longitudinal Analyses of Mutational Subclonal Architecture and Tumor Subtypes in Recurrent Bladder Cancer.
Ryu D et al.
International Journal of Molecular Sciences, 2023
Genomic mutation landscape of skin cancers from DNA repair-deficient xeroderma pigmentosum patients.
Yurchenko AA et al.
Nature Communications, 2023
Genomic analysis of a Palestinian family with inherited cancer syndrome: a next-generation sequencing study.
Fares E et al.
Frontiers in Genetics, 2023
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 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
Metronidazole-Induced Hepatitis in a Teenager With Xeroderma Pigmentosum and Trichothiodystrophy Overlap.
Abiona A et al.
Pediatrics, 2021
Reduced levels of prostaglandin I2 synthase: a distinctive feature of the cancer-free trichothiodystrophy.
Lombardi A et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
Clinical manifestation and genetic analysis of familial rare disease genodermatosis xeroderma pigmentosum.
Yuniati R et al.
Intractable & Rare Diseases Research, 2021
Ribosomal protein S3 associates with the TFIIH complex and positively regulates nucleotide excision repair.
Park YJ et al.
Cellular and Molecular Life Sciences : Cmls, 2021
In Silico Drug Repurposing by Structural Alteration after Induced Fit: Discovery of a Candidate Agent for Recovery of Nucleotide Excision Repair in Xeroderma Pigmentosum Group D Mutant (R683W).
Takaoka Y et al.
Biomedicines, 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
Comprehensive germline mutation analysis and clinical profile in a large cohort of Brazilian xeroderma pigmentosum patients.
Santiago KM et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2020
Diagnostic yield of a custom-designed multi-gene cancer panel in Irish patients with breast cancer.
McVeigh ÚM et al.
Irish Journal of Medical Science, 2020
Some mutations in the xeroderma pigmentosum D gene may lead to moderate but significant radiosensitivity associated with a delayed radiation-induced ATM nuclear localization.
Ferlazzo M et al.
International Journal of Radiation Biology, 2020
A novel nonsense mutation of ERCC2 in a Vietnamese family with xeroderma pigmentosum syndrome group D.
Bui CB et al.
Human Genome Variation, 2020
XPD/ERCC2 mutations interfere in cellular responses to oxidative stress.
Lerner LK et al.
Mutagenesis, 2019
Xeroderma pigmentosum in South Africa: Evidence for a prevalent founder effect.
Kgokolo M et al.
The British Journal of Dermatology, 2019
Novel therapeutic approaches to xeroderma pigmentosum.
Weon JL et al.
The British Journal of Dermatology, 2019
Transcription preinitiation complex structure and dynamics provide insight into genetic diseases.
Yan C et al.
Nature Structural & Molecular Biology, 2019
Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing.
Girard E et al.
International Journal of Cancer, 2019
ERCC2 Helicase Domain Mutations Confer Nucleotide Excision Repair Deficiency and Drive Cisplatin Sensitivity in Muscle-Invasive Bladder Cancer.
Li Q et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2019
Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population.
Pugh J et al.
Jama Dermatology, 2019
Characteristics of Xeroderma Pigmentosum in Japan: Lessons From Two Clinical Surveys and Measures for Patient Care.
Nishigori C et al.
Photochemistry and Photobiology, 2019
Repair protein persistence at DNA lesions characterizes XPF defect with Cockayne syndrome features.
Sabatella M et al.
Nucleic Acids Research, 2018