Found: 26
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Proneness to UV-induced apoptosis in human fibroblasts defective in transcription coupled repair is associated with the lack of Mdm2 transactivation.
- Published in:
- Oncogene, 2000, v. 19, n. 22, p. 2714, doi. 10.1038/sj.onc.1203583
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- Publication type:
- Article
UV mutation signature in tumor suppressor genes involved in skin carcinogenesis in xeroderma pigmentosum patients.
- Published in:
- Oncogene, 2000, v. 19, n. 3, p. 463, doi. 10.1038/sj.onc.1203313
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- Publication type:
- Article
Reference genes for gene expression analysis in proliferating and differentiating human keratinocytes.
- Published in:
- Experimental Dermatology, 2015, v. 24, n. 4, p. 314, doi. 10.1111/exd.12657
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- Publication type:
- Article
XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 6, p. 1061, doi. 10.1093/hmg/dds508
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- Publication type:
- Article
UV damage causes uncontrolled DNA breakage in cells from patients with combined features of XP-D and Cockayne syndrome.
- Published in:
- EMBO Journal, 2000, v. 19, n. 5, p. 1157, doi. 10.1093/emboj/19.5.1157
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- Publication type:
- Article
Chromosomal fragility in the cancer-prone disease xeroderma pigmentosum preferentially involves bands relevant for cutaneous carcinogenesis.
- Published in:
- International Journal of Cancer, 1997, v. 74, n. 6, p. 654, doi. 10.1002/(SICI)1097-0215(19971219)74:6<654::AID-IJC17>3.0.CO;2-5
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- Publication type:
- Article
Sensitivity of CHO mutant cell lines with specific defects in nucleotide excision repair to different anti-cancer agents.
- Published in:
- International Journal of Cancer, 1996, v. 66, n. 6, p. 779, doi. 10.1002/(SICI)1097-0215(19960611)66:6<779::AID-IJC12>3.0.CO;2-Z
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- Publication type:
- Article
Two New XPD Patients Compound Heterozygous for the Same Mutation Demonstrate Diverse Clinical Features.
- Published in:
- Journal of Investigative Dermatology, 2005, v. 125, n. 1, p. 86, doi. 10.1111/j.0022-202X.2005.23745.x
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- Publication type:
- Article
A Stop Codon in Xeroderma Pigmentosum Group C Families in Turkey and Italy: Molecular Genetic Evidence for a Common Ancestor.
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- Journal of Investigative Dermatology, 2001, v. 117, n. 2, p. 197, doi. 10.1046/j.1523-1747.2001.01424.x
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- Publication type:
- Article
A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A.
- Published in:
- Nature Genetics, 2004, v. 36, n. 7, p. 714, doi. 10.1038/ng1387
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- Publication type:
- Article
Histone Methyltransferase DOT1L Drives Recovery of Gene Expression after a Genotoxic Attack.
- Published in:
- PLoS Genetics, 2013, v. 9, n. 7, p. 1, doi. 10.1371/journal.pgen.1003611
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- Publication type:
- Article
Xeroderma pigmentosum.
- Published in:
- 2011
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- Publication type:
- journal article
New functions of XPC in the protection of human skin cells from oxidative damage.
- Published in:
- EMBO Journal, 2006, v. 25, n. 18, p. 4305, doi. 10.1038/sj.emboj.7601277
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- Publication type:
- Article
Cockayne syndrome group A and ferrochelatase finely tune ribosomal gene transcription and its response to UV irradiation.
- Published in:
- Nucleic Acids Research, 2021, v. 49, n. 19, p. 10911, doi. 10.1093/nar/gkab819
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- Publication type:
- Article
Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. 438, doi. 10.1002/humu.20912
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- Publication type:
- 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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- Publication type:
- Article
Cloning the human and mouse MMS19 genes and functional complementation of a yeast mms19 deletion mutant.
- Published in:
- Nucleic Acids Research, 2001, v. 29, n. 9, p. 1884, doi. 10.1093/nar/29.9.1884
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- Publication type:
- Article
Bmi-1 Reduction Plays a Key Role in Physiological and Premature Aging of Primary Human Keratinocytes.
- Published in:
- Journal of Investigative Dermatology, 2010, v. 130, n. 4, p. 1048, doi. 10.1038/jid.2009.355
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- Publication type:
- Article
TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo‐sensitive trichothiodystrophy.
- Published in:
- Human Mutation, 2022, v. 43, n. 12, p. 2222, doi. 10.1002/humu.24488
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- Publication type:
- 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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- Publication type:
- Article
An altered redox balance mediates the hypersensitivity of Cockayne syndrome primary fibroblasts to oxidative stress.
- Published in:
- Aging Cell, 2012, v. 11, n. 3, p. 520, doi. 10.1111/j.1474-9726.2012.00815.x
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- Publication type:
- Article
True XP group E patients have a defective UV-damaged DNA binding protein complex and mutations in DDB2 which reveal the functional domains of its p48 product.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 13, p. 1507, doi. 10.1093/hmg/ddg174
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- Publication type:
- Article
Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 23, p. 2919, doi. 10.1093/hmg/11.23.2919
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- Publication type:
- Article
Mutations in the general transcriptionfactor TFIIH result in β-thalassaemiain individuals with trichothiodystrophy.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 24, p. 2797, doi. 10.1093/hmg/10.24.2797
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- Publication type:
- 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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- Publication type:
- Article
Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivity.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 5, p. 935, doi. 10.1093/hmg/8.5.935
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- Publication type:
- Article