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p53 mutations in cutaneous lesions induced in the hairless mouse by a solar ultraviolet light simulator.
- Published in:
- Molecular Carcinogenesis, 1998, v. 22, n. 3, p. 167, doi. 10.1002/(SICI)1098-2744(199807)22:3<167::AID-MC4>3.0.CO;2-I
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- Article
Prolonged p53 protein accumulation in trichothiodystrophy fibroblasts dependent on unrepaired pyrimidine dimers on the transcribed strands of cellular genes.
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- Molecular Carcinogenesis, 1997, v. 20, n. 4, p. 340, doi. 10.1002/(SICI)1098-2744(199712)20:4<340::AID-MC3>3.0.CO;2-N
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- Article
Enhanced Deoxyribonuclease Activity in Human Transformed Cells and in Bloom's Syndrome Cells.
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- Molecular Carcinogenesis, 1989, v. 2, n. 4, p. 179, doi. 10.1002/mc.2940020402
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- Article
The xeroderma pigmentosum variant in a Greek patient.
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- International Journal of Dermatology, 2001, v. 40, n. 7, p. 442, doi. 10.1046/j.1365-4362.2001.01215.x
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- Article
The French Cohort of DNA Repair-Deficient Xeroderma Pigmentosum Patients: Risk of Hematological Malignancies.
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- Cancers, 2023, v. 15, n. 10, p. 2706, doi. 10.3390/cancers15102706
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- Publication type:
- Article
Restoring DNA repair capacity of cells from three distinct diseases by XPD gene-recombinant adenovirus.
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- Cancer Gene Therapy, 2005, v. 12, n. 4, p. 389, doi. 10.1038/sj.cgt.7700797
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- Article
Preclinical Corrective Gene Transfer in Xeroderma Pigmentosum Human Skin Stem Cells.
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- Molecular Therapy, 2012, v. 20, n. 4, p. 798, doi. 10.1038/mt.2011.233
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- Article
Safe Selection of Genetically Manipulated Human Primary Keratinocytes with Very High Growth Potential Using CD24.
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- Molecular Therapy, 2007, v. 15, n. 12, p. 2186, doi. 10.1038/sj.mt.6300292
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- Article
Epigenomic signature of accelerated ageing in progeroid Cockayne syndrome.
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- Aging Cell, 2023, v. 22, n. 10, p. 1, doi. 10.1111/acel.13959
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- Publication type:
- Article
Transcriptional profiles of unirradiated or UV-irradiated human cells expressing either the cancer-prone XPB/CS allele or the noncancer-prone XPB/TTD allele.
- Published in:
- Oncogene, 2005, v. 24, n. 8, p. 1359, doi. 10.1038/sj.onc.1208288
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- Publication type:
- Article
Fanconi anemia C gene product regulates expression of genes involved in differentiation and inflammation.
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- Oncogene, 2004, v. 23, n. 29, p. 5004, doi. 10.1038/sj.onc.1207677
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- Publication type:
- Article
Predominant role of DNA polymerase eta and p53-dependent translesion synthesis in the survival of ultraviolet-irradiated human cells.
- Published in:
- Nucleic Acids Research, 2017, v. 45, n. 3, p. 1270, doi. 10.1093/nar/gkw1196
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- Publication type:
- Article
Translesion synthesis mechanisms depend on the nature of DNA damage in UV-irradiated human cells.
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- Nucleic Acids Research, 2016, v. 44, n. 12, p. 5717, doi. 10.1093/nar/gkw280
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- Article
Human DNA polymerase iota protects cells against oxidative stress.
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- EMBO Journal, 2008, v. 27, n. 21, p. 2883, doi. 10.1038/emboj.2008.210
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- Article
XPC and POLH/XPV Genes Mutated in a Genetic Cluster of Xeroderma Pigmentosum Patients in Northeast Brazil.
- Published in:
- Frontiers in Genetics, 2022, v. 12, p. 1, doi. 10.3389/fgene.2021.784963
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- Publication type:
- Article
Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma.
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- European Journal of Human Genetics, 2015, v. 23, n. 7, p. 957, doi. 10.1038/ejhg.2014.213
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- Article
Deletion of 5′ sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndrome.
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- European Journal of Human Genetics, 2008, v. 16, n. 3, p. 320, doi. 10.1038/sj.ejhg.5201991
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- Article
ERCC2 /XPD Gene Polymorphisms and Lung Cancer: A HuGE Review.
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- American Journal of Epidemiology, 2005, v. 161, n. 1, p. 1, doi. 10.1093/aje/kwi018
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- Article
Gene Expression Profiling of Primary Cutaneous Melanoma and Clinical Outcome.
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- JNCI: Journal of the National Cancer Institute, 2006, v. 98, n. 7, p. 472, doi. 10.1093/jnci/djj103
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- Article
Defective transcription of ATF3 responsive genes, a marker for Cockayne Syndrome.
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- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-57999-4
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- Article
Expression of Constitutive Fusion of Ubiquitin to PCNA Restores the Level of Immunoglobulin A/T Mutations During Somatic Hypermutation in the Ramos Cell Line.
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- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.871766
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- Publication type:
- Article
BRN2 is a non-canonical melanoma tumor-suppressor.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-23973-5
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- Article
XPC deficiency increases risk of hematologic malignancies through mutator phenotype and characteristic mutational signature.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1038/s41467-020-19633-9
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- Article
Reconstruction of DNA Repair-deficient Xeroderma Pigmentosum Skin In Vitro: A Model to Study Hypersensitivity to UV Light.
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- Photochemistry & Photobiology, 2005, v. 81, n. 1, p. 19, doi. 10.1111/j.1751-1097.2005.tb01517.x
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- Article
Photogenotoxicity of Mammalian Cells: A Review of the Different Assays for In Vitro Testing.
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- Photochemistry & Photobiology, 2002, v. 75, n. 5, p. 437, doi. 10.1562/0031-8655(2002)0750437POMCAR2.0.CO2
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- Publication type:
- Article
Xeroderma pigmentosum: From Symptoms and Genetics to Gene-Based Skin Therapy.
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- Cells Tissues Organs, 2004, v. 177, n. 3, p. 189, doi. 10.1159/000079993
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- Article
XPD/ERCC2 mutations interfere in cellular responses to oxidative stress.
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- Mutagenesis, 2019, v. 34, n. 4, p. 341, doi. 10.1093/mutage/gez020
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- Publication type:
- Article
Transcription through 8-oxoguanine in DNA repair-proficient and Csb /Ogg1 DNA repair-deficient mouse embryonic fibroblasts is dependent upon promoter strength and sequence context.
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- Mutagenesis, 2007, v. 22, n. 5, p. 343, doi. 10.1093/mutage/gem024
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- Article
ERCC2/XPD gene polymorphisms and cancer risk.
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- Mutagenesis, 2002, v. 17, n. 6, p. 463, doi. 10.1093/mutage/17.6.463
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- Article
Molecular analysis of glioma and skin-tumour alterations in a xeroderma-pigmentosum child.
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- International Journal of Cancer, 1999, v. 81, n. 3, p. 345, doi. 10.1002/(SICI)1097-0215(19990505)81:3<345::AID-IJC6>3.0.CO;2-E
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- Article
Psychological correlates of adherence to photoprotection in a rare disease: International survey of people with Xeroderma Pigmentosum.
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- 2019
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- Publication type:
- journal article
Targeted Gene Therapy of Xeroderma Pigmentosum Cells Using Meganuclease and TALEN™.
- Published in:
- PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0078678
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- Article
Increased risk of internal tumors in DNA repair-deficient xeroderma pigmentosum patients: analysis of four international cohorts.
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- 2022
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- Publication type:
- journal article
Transcriptional Mutagenesis Induced by 8-Oxoguanine in Mammalian Cells.
- Published in:
- PLoS Genetics, 2009, v. 5, n. 7, p. 1
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- Article
New founder germline mutations of CDKN2A in melanoma-prone families and multiple primary melanoma development in a patient receiving levodopa treatment.
- Published in:
- Genes, Chromosomes & Cancer, 2007, v. 46, n. 8, p. 751, doi. 10.1002/gcc.20461
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- Article
Two individuals with featuresof both xeroderma pigmentosum and trichothiodystrophy highlightthe complexity of the clinical outcomes of mutations in the XPD gene.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 22, p. 2539, doi. 10.1093/hmg/10.22.2539
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- Article
The relative expression of mutated XPB genes results in xeroderma pigmentosum/Cockayne's syndrome or trichothiodystrophy cellular phenotypes.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 6, p. 1125, doi. 10.1093/hmg/8.6.1125
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- Article
Genomic mutation landscape of skin cancers from DNA repair-deficient xeroderma pigmentosum patients.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-38311-0
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- Publication type:
- Article
Correlation of Phenotype/Genotype in a Cohort of 23 Xeroderma Pigmentosum-Variant Patients Reveals 12 New Disease-Causing POLH Mutations.
- Published in:
- Human Mutation, 2014, v. 35, n. 1, p. 117, doi. 10.1002/humu.22462
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- Article
Novel XPG ( ERCC5) Mutations Affect DNA Repair and Cell Survival after Ultraviolet but not Oxidative Stress.
- Published in:
- Human Mutation, 2013, v. 34, n. 3, p. 481, doi. 10.1002/humu.22259
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- Article
Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients.
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- Human Mutation, 2009, v. 30, n. 4, p. 564, doi. 10.1002/humu.20845
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- Article
Mutations in the C7orf11 ( TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships.
- Published in:
- Human Mutation, 2007, v. 28, n. 1, p. 92, doi. 10.1002/humu.20419
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- Article
TP53 mutations in human skin cancers.
- Published in:
- Human Mutation, 2003, v. 21, n. 3, p. 217, doi. 10.1002/humu.10179
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- Publication type:
- Article
The proapoptotic effect of hepatitis B virus HBx protein correlates with its transactivation activity in stably transfected cell lines.
- Published in:
- Oncogene, 1999, v. 18, n. 18, p. 2860, doi. 10.1038/sj.onc.1202643
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- Article
A prognostic signature of defective p53-dependent G1 checkpoint function in melanoma cell lines.
- Published in:
- Pigment Cell & Melanoma Research, 2012, v. 25, n. 4, p. 514, doi. 10.1111/j.1755-148X.2012.01010.x
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- Publication type:
- Article
Gene expression signature associated with BRAF mutations in human primary cutaneous melanomas
- Published in:
- Molecular Oncology, 2008, v. 1, n. 4, p. 425, doi. 10.1016/j.molonc.2008.01.002
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- Article
Gene expression profiling of primary cutaneous melanoma and clinical outcome: role of DNA repair genes in metastasis development.
- Published in:
- Experimental Dermatology, 2006, v. 15, n. 10, p. 846, doi. 10.1111/j.1600-0625.2006.00495.x
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- Publication type:
- Article
p53 gene mutations in human skin cancers.
- Published in:
- Experimental Dermatology, 2002, v. 11, p. 44, doi. 10.1034/j.1600-0625.11.s.1.11.x
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- Publication type:
- Article
Effects of camptothecin on double-strand break repair by non-homologous end-joining in DNA mismatch repair-deficient human colorectal cancer cell lines.
- Published in:
- Nucleic Acids Research, 2005, v. 33, n. 1, p. 106, doi. 10.1093/nar/gki154
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- Publication type:
- Article
Variants in DNA double-strand break repair and DNA damage-response genes and susceptibility to lung and head and neck cancers.
- Published in:
- International Journal of Cancer, 2008, v. 123, n. 2, p. 457, doi. 10.1002/ijc.23524
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- Publication type:
- Article