Disease: Xeroderma pigmentosum- variant type
- 129-Derived Mouse Strains Express an Unstable but Catalytically Active DNA Polymerase Iota Variant
- A compound heterozygous Chinese patient with xeroderma pigmentosum variant type caused by novel POLH variants
- A new POLH mutation in a consanguineous Chinese family with xeroderma pigmentosum variant type
- A noncancerous variant of xeroderma pigmentosum type D associated with novel heterozygous missense ERCC2 gene mutation
- An African perspective on the genetic risk of chronic kidney disease: a systematic review
- Angiosarcoma arising on the scalp in a Korean patient with xeroderma pigmentosum variant type
- Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting
- Associated risk of XRCC1 and XPD cross talk and life style factors in progression of head and neck cancer in north Indian population
- Association between genetic polymorphisms in the XRCC1, XRCC3, XPD, GSTM1, GSTT1, MSH2, MLH1, MSH3, and MGMT genes and radiosensitivity in breast cancer patients
- Association between single nucleotide polymorphisms in ERCC4 and risk of squamous cell carcinoma of the head and neck
- Association of four ERCC1 and ERCC2 SNPs with survival of bone tumour patients
- Association of polymorphisms of the xeroderma pigmentosum complementation group F gene with increased glioma risk
- Associations between XPC polymorphisms and risk of cancers: A meta-analysis
- ATR/Chk1 pathway is essential for resumption of DNA synthesis and cell survival in UV-irradiated XP variant cells
- Atypical Fibroxanthoma in a 13-Year-Old Guatemalan Girl with Xeroderma Pigmentosum
- Caffeine abolishes the ultraviolet-induced REV3 translesion replication pathway in mouse cells
- Case report: Variants in the <em>ERCC4</em> gene as a rare cause of cerebellar ataxia with chorea
- Characteristics of Xeroderma Pigmentosum in Japan: Lessons From Two Clinical Surveys and Measures for Patient Care
- Cisplatin ototoxicity in children: risk factors and its relationship with polymorphisms of DNA repair genes ERCC1, ERCC2, and XRCC1
- Cisplatin pharmacogenetics, DNA repair polymorphisms, and esophageal cancer outcomes
- Clinical and genetic characteristics of xeroderma pigmentosum in Nepal
- Cloning of the XPD gene and its function in malignant melanoma cells
- COFS type 3 in an Indian family with antenatally detected arthrogryposis
- Combined effect of ERCC1 and ERCC2 polymorphisms on overall survival in non-squamous non-small-cell lung cancer patients treated with first-line pemetrexed/platinum
- Deciphering the role of the ERCC2 gene polymorphism on anticancer drug sensitivity
- Diagnosis of eight groups of xeroderma pigmentosum by genetic complementation using recombinant adenovirus vectors
- Differential Roles of Rad18 and Chk2 in Genome Maintenance and Skin Carcinogenesis Following UV Exposure
- DNA repair genes XPC, XPG polymorphisms: relation to the risk of colorectal carcinoma and therapeutic outcome with Oxaliplatin-based adjuvant chemotherapy
- DNA repair genotype interacts with arsenic exposure to increase bladder cancer risk
- Dual roles for DNA polymerase eta in homologous DNA recombination and translesion DNA synthesis
- Early-onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counseling
- Effect of <em>XPC</em> polymorphisms on the response to platinum-based chemotherapy: a meta-analysis
- ERCC1 and XPD/ERCC2 polymorphisms' predictive value of oxaliplatin-based chemotherapies in advanced colorectal cancer has an ethnic discrepancy: a meta-analysis
- ERCC2 Lys751Gln rs13181 and XRCC2 Arg188His rs3218536 Gene Polymorphisms Contribute to Subsceptibility of Colon, Gastric, HCC, Lung And Prostate Cancer
- ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes
- Erratum: A noncancerous variant of xeroderma pigmentosum type D associated with novel heterozygous missense ERCC2 gene mutation
- Exome-based search for recurrent disease-causing alleles in Russian population
- Facial resurfacing with split-thickness skin grafts in xeroderma pigmentosum variant
- Foamy Cell Angiosarcoma in a Patient with Xeroderma Pigmentosum: A Case Report and Comprehensive Review of the Literature
- Four types of possible founder mutations are responsible for 87% of Japanese patients with Xeroderma pigmentosum variant type
- Functional Comparison of XPF Missense Mutations Associated to Multiple DNA Repair Disorders
- GCN5 protects vertebrate cells against UV-irradiation via controlling gene expression of DNA polymerase η
- Genetic polymorphisms in DNA repair genes OGG1, APE1, XRCC1, and XPD and the risk of age-related cataract
- Genetic variability of genes in NER pathway influences the treatment outcome of gastric cancer
- Hearing Dysfunction in <em>Xpa</em>-Deficient Mice
- Homologous recombination mediates S-phase-dependent radioresistance in cells deficient in DNA polymerase eta
- Human DNA polymerase eta activity and translocation is regulated by phosphorylation
- Identification of a novel DDB2 mutation in a Chinese Han family with Xeroderma pigmentosum group E:a case report and literature review
- Identification of a novel nonsense mutation in POLH in a Chinese pedigree with xeroderma pigmentosum, variant type
- Identification of Three Human POLH Germline Variants Defective in Complementing the UV- and Cisplatin-Sensitivity of POLH-Deficient Cells
- Implications of XRCC1, XPD and APE1 gene polymorphism in North Indian population: a comparative approach in different ethnic groups worldwide
- Increased susceptibility to UV-induced skin carcinogenesis in polymerase eta-deficient mice
- Interaction with DNA polymerase eta is required for nuclear accumulation of REV1 and suppression of spontaneous mutations in human cells
- Lentigo maligna in a patient with xeroderma pigmentosum, variant type: A case report with dermoscopic findings and review of the literature
- MC1R variant allele effects on UVR-induced phosphorylation of p38, p53, and DDB2 repair protein responses in melanocytic cells in culture
- Modulation of DNA damage by XPF, XPG and ERCC1 gene polymorphisms in pesticide-exposed agricultural workers of Punjab, North-West India
- Molecular analysis of DNA polymerase eta gene in Japanese patients diagnosed as xeroderma pigmentosum variant type
- Molecular basis of xeroderma pigmentosum group C DNA recognition by engineered meganucleases
- Moving toward individualized therapy based on NER polymorphisms that predict platinum sensitivity in ovarian cancer patients
- Mutation frequencies and spectra in DNA polymerase eta-deficient mice
- NEIL1 protects against aflatoxin-induced hepatocellular carcinoma in mice
- Novel pathogenic frameshift mutation in the POLH gene contributes to xeroderma pigmentosum variant type in a 16-year-old girl
- Novel variants in POLH and TREM2 genes associated with a complex phenotype of xeroderma pigmentosum variant type and early-onset dementia
- Nucleotide Excision Repair Gene ERCC2 and ERCC5 Variants Increase Risk of Uterine Cervical Cancer
- Nucleotide excision repair gene variants and association with survival in osteosarcoma patients treated with neoadjuvant chemotherapy
- PAH-DNA adducts in a Chinese population: relationship to PAH exposure, smoking and polymorphisms of metabolic and DNA repair genes
- Polymorphism of DNA repair gene XPD Lys751Gln and chromosome aberrations in lymphocytes of thyroid cancer patients exposed to ionizing radiation due to the Chornobyl accident
- Polymorphisms in DNA repair genes in gastrointestinal stromal tumours: susceptibility and correlation with tumour characteristics and clinical outcome
- Polymorphisms in nucleotide excision repair genes, polycyclic aromatic hydrocarbon-DNA adducts, and breast cancer risk
- Polymorphisms in the ERCC1 and XPF genes and risk of breast cancer in a Chinese population
- Polymorphisms in the genes ERCC2, XRCC3 and CD3EAP influence treatment outcome in multiple myeloma patients undergoing autologous bone marrow transplantation
- Polymorphisms in the two helicases ERCC2/XPD and ERCC3/XPB of the transcription factor IIH complex and risk of lung cancer: a case-control analysis in a Chinese population
- Polymorphisms in XPD (Asp312Asn and Lys751Gln) genes, sunburn and arsenic-related skin lesions
- Prospective assessment of XPD Lys751Gln and XRCC1 Arg399Gln single nucleotide polymorphisms in lung cancer
- Rare exon 10 deletion in POLH gene in a family with xeroderma pigmentosum variant correlating with protein expression by immunohistochemistry
- Remarkable induction of UV-signature mutations at the 3'-cytosine of dipyrimidine sites except at 5'-TCG-3' in the UVB-exposed skin epidermis of xeroderma pigmentosum variant model mice
- Requirement for functional DNA polymerase eta in genome-wide repair of UV-induced DNA damage during S phase
- Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families
- Single nucleotide polymorphisms in DNA repair genes and the risk of laryngeal cancer: A meta-analysis
- Tagging SNPs in the ERCC4 gene are associated with gastric cancer risk
- The GSTM1null (deletion) and MGMT84 rs12917 (Phe/Phe) haplotype are associated with bulky DNA adduct levels in human leukocytes
- The human POLH gene is not mutated, and is expressed in a cohort of patients with basal or squamous cell carcinoma of the skin
- The influence of XPD, APE1, XRCC1, and NBS1 polymorphic variants on DNA repair in cells exposed to X-rays
- The Involvement of ERCC2/XPD and ERCC6/CSB Wild Type Alleles in Protection Against Aging and Cancer
- The present status of xeroderma pigmentosum in Japan and a tentative severity classification scale
- The relationship between polymorphism of genes XPA, XPC, XPD, XRCC1 and susceptibility to acute lymphoblastic leukemia
- THE STUDY OF POLYMORPHISMS OF XPD GENE A751C IN LUNG CANCER PATIENTS WITH DIFFERENT CLINICAL AND MORPHOLOGICAL CHARACTERISTICS OF TUMOR
- The survival impact of XPA and XPC genetic polymorphisms on patients with esophageal squamous cell carcinoma
- The value of XPD and XRCC1 genotype polymorphisms to predict clinical outcome in metastatic colorectal carcinoma patients with irinotecan-based regimens
- Three school-age cases of xeroderma pigmentosum variant type
- Translesion DNA Synthesis across the heptanone--etheno-2'-deoxycytidine adduct in cells
- USP7 modulates UV-induced PCNA monoubiquitination by regulating DNA polymerase eta stability
- UV-induced mutations in epidermal cells of mice defective in DNA polymerase η and/or ι
- Whole-exome sequencing enables rapid determination of xeroderma pigmentosum molecular etiology
- Whole-Exome Sequencing Enables the Diagnosis of Variant-Type Xeroderma Pigmentosum
- Xeroderma Pigmentosum Diagnosis Using a Flow Cytometry-Based Nucleotide Excision Repair Assay
- XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn polymorphisms, interactions with smoking, alcohol and dietary factors, and risk of colorectal cancer
- XPC gene polymorphisms and risk of idiopathic azoospermia or oligozoospermia in a Chinese population
- XPD Lys751Gln polymorphism and esophageal cancer susceptibility: a meta-analysis of case-control studies
- Yeast-based assays for characterization of the functional effects of single nucleotide polymorphisms in human DNA repair genes