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Xeroderma pigmentosum.
- Published in:
- 2011
- By:
- Publication type:
- journal article
PYRIMIDINE DIMER SITES ASSOCIATED WITH THE DAUGHTER DNA STRANDS IN UV-IRRADIATED HUMAN FIBROBLASTS.
- Published in:
- Photochemistry & Photobiology, 1978, v. 27, n. 3, p. 297, doi. 10.1111/j.1751-1097.1978.tb07604.x
- By:
- Publication type:
- Article
Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. 5044, doi. 10.1093/brain/awad266
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- Publication type:
- Article
Addendum.
- Published in:
- EMBO Journal, 2003, v. 22, n. 5, p. 1223, doi. 10.1093/emboj/7595006
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- Publication type:
- Article
Localization of DNA polymerases ? and ? to the replication machinery is tightly co-ordinated in human cells.
- Published in:
- EMBO Journal, 2003, v. 22, n. 5, p. 1223, doi. 10.1093/emboj/cdf618
- By:
- Publication type:
- Article
Localization of DNA polymerases ? and ? to the replication machinery is tightly co-ordinated in human cells.
- Published in:
- EMBO Journal, 2002, v. 21, n. 22, p. 6246, doi. 10.1093/emboj/cdf618
- By:
- Publication type:
- Article
A novel SMC protein complex in Schizosaccharomyces pombe contains the Rad18 DNA repair protein.
- Published in:
- EMBO Journal, 2000, v. 19, n. 7, p. 1691, doi. 10.1093/emboj/19.7.1691
- By:
- Publication type:
- Article
A novel SMC protein complex in Schizosaccharomyces pombe contains the Rad18 DNA repair protein.
- Published in:
- EMBO Journal, 2000, v. 19, n. 7, p. 1691, doi. 10.1093/emboj/19.7.1691
- By:
- 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
- By:
- Publication type:
- Article
Hypomorphic PCNA mutation underlies a human DNA repair disorder.
- Published in:
- Journal of Clinical Investigation, 2014, v. 124, n. 7, p. 3137, doi. 10.1172/JCI74593
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- Publication type:
- Article
Phosphorylation regulates human polη stability and damage bypass throughout the cell cycle.
- Published in:
- Nucleic Acids Research, 2017, v. 45, n. 16, p. 9441, doi. 10.1093/nar/gkx619
- By:
- Publication type:
- Article
Chromatin association of the SMC5/6 complex is dependent on binding of its NSE3 subunit to DNA.
- Published in:
- Nucleic Acids Research, 2016, v. 44, n. 3, p. 1064, doi. 10.1093/nar/gkv1021
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- Publication type:
- Article
A role for chromatin remodellers in replication of damaged DNA.
- Published in:
- Nucleic Acids Research, 2012, v. 40, n. 15, p. 7393, doi. 10.1093/nar/gks453
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- Publication type:
- Article
Y-family DNA polymerases and their role in tolerance of cellular DNA damage.
- Published in:
- Nature Reviews Molecular Cell Biology, 2012, v. 13, n. 3, p. 141, doi. 10.1038/nrm3289
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- Publication type:
- Article
Interactions between the Nse3 and Nse4 Components of the SMC5-6 Complex Identify Evolutionarily Conserved Interactions between MAGE and EID Families.
- Published in:
- PLoS ONE, 2011, v. 6, n. 2, p. 1, doi. 10.1371/journal.pone.0017270
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- Publication type:
- Article
Xeroderma Pigmentosum in the United Kingdom.
- Published in:
- Photochemistry & Photobiology, 2015, v. 91, n. 2, p. 484, doi. 10.1111/php.12301
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- Publication type:
- Article
Making good.
- Published in:
- Nature, 1985, v. 314, n. 6010, p. 477, doi. 10.1038/314477a0
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- Publication type:
- Article
Structure and mechanism of human DNA polymerase ?
- Published in:
- 2011
- By:
- Publication type:
- Correction Notice
Structure and mechanism of human DNA polymerase η.
- Published in:
- Nature, 2010, v. 465, n. 7301, p. 1044, doi. 10.1038/nature09196
- By:
- Publication type:
- Article
Repair of cyclobutane pyrimidine dimers and 6-4 photoproducts in the fission yeast Schizosaccharomyces pombe.
- Published in:
- Molecular Microbiology, 1993, v. 10, n. 4, p. 885, doi. 10.1111/j.1365-2958.1993.tb00959.x
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- Publication type:
- Article
The Y-family DNA polymerase κ (pol κ) functions in mammalian nucleotide-excision repair.
- Published in:
- Nature Cell Biology, 2006, v. 8, n. 6, p. 640, doi. 10.1038/ncb1417
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- Publication type:
- Article
Maintaining integrity.
- Published in:
- Nature Cell Biology, 2004, v. 6, n. 10, p. 923, doi. 10.1038/ncb1004-923
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- Publication type:
- Article
Cells from XP-D and XP-D-CS patients exhibit equally inefficient repair of UV-induced damage in transcribed genes but different capacity to recover UV-inhibited transcription.
- Published in:
- Nucleic Acids Research, 1999, v. 27, n. 14, p. 2898, doi. 10.1093/nar/27.14.2898
- By:
- Publication type:
- Article
Characterization of the Alternative Excision Repair Pathway of UV-Damaged DNA in Schizosaccharomyces Pombe.
- Published in:
- Nucleic Acids Research, 1997, v. 25, n. 8, p. 1553, doi. 10.1093/nar/25.8.1553
- By:
- Publication type:
- Article
Neurological symptoms and natural course of xeroderma pigmentosum.
- Published in:
- Brain: A Journal of Neurology, 2008, v. 131, n. 8, p. 1979, doi. 10.1093/brain/awn126
- By:
- Publication type:
- Article
DNA polymerase η is an A-T mutator in somatic hypermutation of immunoglobulin variable genes.
- Published in:
- Nature Immunology, 2001, v. 2, n. 6, p. 537, doi. 10.1038/88740
- By:
- Publication type:
- Article
Xeroderma pigmentosum is a definite cause of Huntington's disease‐like syndrome.
- Published in:
- Annals of Clinical & Translational Neurology, 2018, v. 5, n. 1, p. 102, doi. 10.1002/acn3.511
- By:
- Publication type:
- Article
Specialized interfaces of Smc5/6 control hinge stability and DNA association.
- Published in:
- Nature Communications, 2017, v. 8, n. 1, p. 14011, doi. 10.1038/ncomms14011
- By:
- 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
DNA Repair and Ultraviolet Mutagenesis in Cells From a New Patient With Xeroderma Pigmentosum Group G and Cockayne Syndrome Resemble Xeroderma Pigmentosum Cells.
- Published in:
- Journal of Investigative Dermatology, 1996, v. 107, n. 4, p. 647, doi. 10.1111/1523-1747.ep12584287
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- Publication type:
- Article
ATR-mediated phosphorylation of DNA polymerase η is needed for efficient recovery from UV damage.
- Published in:
- Journal of Cell Biology, 2011, v. 192, n. 2, p. 219, doi. 10.1083/jcb.201008076
- By:
- Publication type:
- Article
Xeroderma pigmentosum: overview of pharmacology and novel therapeutic strategies for neurological symptoms.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 18, p. 1711, doi. 10.1093/hmg/ddab123
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- Publication type:
- Article
Immune Function, Mutant Frequency, and Cancer Risk in the DNA Repair Defective Genodermatoses Xeroderma Pigmentosum, Cockayne's Syndrome, and Trichothiodystrophy.
- Published in:
- Journal of Investigative Dermatology, 1990, v. 94, n. 1, p. 94, doi. 10.1111/1523-1747.ep12873952
- By:
- Publication type:
- Article
A HUMAN SUBJECT WITH A NEW DEFECT IN REPAIR OF ULTRAVIOLET DAMAGE.
- Published in:
- Journal of Investigative Dermatology, 1978, v. 70, n. 4, p. 173, doi. 10.1111/1523-1747.ep12541290
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- Publication type:
- Article
UBR5 interacts with the replication fork and protects DNA replication from DNA polymerase η toxicity.
- Published in:
- Nucleic Acids Research, 2019, v. 47, n. 21, p. 11268, doi. 10.1093/nar/gkz824
- By:
- Publication type:
- Article
Ubiquitin-family modifications in the replication of DNA damage
- Published in:
- FEBS Letters, 2011, v. 585, n. 18, p. 2772, doi. 10.1016/j.febslet.2011.06.005
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Replication of damaged DNA by translesion synthesis in human cells
- Published in:
- FEBS Letters, 2005, v. 579, n. 4, p. 873, doi. 10.1016/j.febslet.2004.11.029
- By:
- Publication type:
- Article
Confirmation of homozygosity for a single nucleotide substitution mutation in a Cockayne syndrome patient using monoallelic mutation analysis in somatic cell hybrids.
- Published in:
- Human Mutation, 1997, v. 10, n. 4, p. 317, doi. 10.1002/(SICI)1098-1004(1997)10:4<317::AID-HUMU8>3.0.CO;2-D
- By:
- 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
- By:
- Publication type:
- Article