(Q35006896)

5 August 2017

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title

Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity (English)

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5 August 2017

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James E Cleaver

1

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5 August 2017

Ernest T Lam

series ordinal

2

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5 August 2017

Ingrid Revet

series ordinal

3

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5 August 2017

publication date

7 October 2009

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5 August 2017

published in

Nature Reviews Genetics

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5 August 2017

volume

10

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5 August 2017

issue

11

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5 August 2017

page(s)

756-768

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Cancer in xeroderma pigmentosum and related disorders of DNA repair

5 August 2017

cites work

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Genome maintenance mechanisms for preventing cancer

31 March 2020

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Genetic Heterogeneity of Xeroderma Pigmentosum demonstrated by Somatic Cell Hybridization

31 March 2020

1 reference

31 March 2020

Human DNA repair genes

1 reference

Defective Repair Replication of DNA in Xeroderma Pigmentosum

31 March 2020

1 reference

Clinical implications of the basic defects in Cockayne syndrome and xeroderma pigmentosum and the DNA lesions responsible for cancer, neurodegeneration and aging

31 March 2020

1 reference

hRAD30 mutations in the variant form of xeroderma pigmentosum

31 March 2020

1 reference

The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta

31 March 2020

1 reference

Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy

31 March 2020

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DNA repair deficiencies and cellular senescence are unrelated in xeroderma pigmentosum cell lines.

31 March 2020

1 reference

DNA repair protects against cutaneous and internal neoplasia: evidence from xeroderma pigmentosum

31 March 2020

1 reference

Normal vitamin D levels can be maintained despite rigorous photoprotection: six years' experience with xeroderma pigmentosum

31 March 2020

1 reference

Skin cancer prevention: a possible role of 1,25dihydroxyvitamin D3 and its analogs

31 March 2020

1 reference

Tissue specific mutagenic and carcinogenic responses in NER defective mouse models

31 March 2020

1 reference

Cockayne syndrome: Review of 140 cases

31 March 2020

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Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivity

31 March 2020

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A New Human Photosensitive Subject with a Defect in the Recovery of DNA Synthesis after Ultraviolet-light Irradiation

31 March 2020

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A new UV-sensitive syndrome not belonging to any complementation groups of xeroderma pigmentosum or Cockayne syndrome: siblings showing biochemical characteristics of Cockayne syndrome without typical clinical manifestations

31 March 2020

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ATM, the Mre11/Rad50/Nbs1 complex, and topoisomerase I are concentrated in the nucleus of Purkinje neurons in the juvenile human brain

31 March 2020

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Increased apoptosis, p53 up-regulation, and cerebellar neuronal degeneration in repair-deficient Cockayne syndrome mice

31 March 2020

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Cockayne syndrome in adults: review with clinical and pathologic study of a new case

31 March 2020

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Cockayne syndrome in two adult siblings

31 March 2020

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Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes

31 March 2020

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Structural and molecular hair abnormalities in trichothiodystrophy.

31 March 2020

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Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations

31 March 2020

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Relationship between pyrimidine dimers, 6-4 photoproducts, repair synthesis and cell survival: studies using cells from patients with trichothiodystrophy

31 March 2020

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Identification of TFB5, a new component of general transcription and DNA repair factor IIH.

31 March 2020

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A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A

31 March 2020

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Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships

31 March 2020

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A mouse model for the basal transcription/DNA repair syndrome trichothiodystrophy

31 March 2020

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Structural basis of UV DNA-damage recognition by the DDB1-DDB2 complex

31 March 2020

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Repair of UV-endonuclease-susceptible sites in the 7 complementation groups of xeroderma pigmentosum a through G

31 March 2020

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Xeroderma pigmentosum complementation group E and UV-damaged DNA-binding protein

31 March 2020

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Xeroderma pigmentosum group C in an isolated region of Guatemala

31 March 2020

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XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms

31 March 2020

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Dissection of the molecular defects caused by pathogenic mutations in the DNA repair factor XPC.

31 March 2020

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The human XPC DNA repair gene: arrangement, splice site information content and influence of a single nucleotide polymorphism in a splice acceptor site on alternative splicing and function

31 March 2020

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Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk.

31 March 2020

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The xeroderma pigmentosum group C gene leads to selective repair of cyclobutane pyrimidine dimers rather than 6-4 photoproducts

31 March 2020

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Biochemical and structural domain analysis of xeroderma pigmentosum complementation group C protein

31 March 2020

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Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients

31 March 2020

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Mouse models for xeroderma pigmentosum group A and group C show divergent cancer phenotypes

31 March 2020

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In vivo destabilization and functional defects of the xeroderma pigmentosum C protein caused by a pathogenic missense mutation

31 March 2020

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An aromatic sensor with aversion to damaged strands confers versatility to DNA repair

31 March 2020

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Recognition of DNA damage by the Rad4 nucleotide excision repair protein

31 March 2020

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UV-induced ubiquitylation of XPC protein mediated by UV-DDB-ubiquitin ligase complex.

31 March 2020

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Sensing of DNA damage by XPC/Rad4: one protein for many lesions

31 March 2020

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The ubiquitin ligase activity in the DDB2 and CSA complexes is differentially regulated by the COP9 signalosome in response to DNA damage

31 March 2020

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Cockayne syndrome A and B proteins differentially regulate recruitment of chromatin remodeling and repair factors to stalled RNA polymerase II in vivo

31 March 2020

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UV-induced ubiquitination of RNA polymerase II: a novel modification deficient in Cockayne syndrome cells

31 March 2020

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Rescue of arrested RNA polymerase II complexes

31 March 2020

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Recruitment of the putative transcription-repair coupling factor CSB/ERCC6 to RNA polymerase II elongation complexes

31 March 2020

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Cockayne syndrome group B cellular and biochemical functions

31 March 2020

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Ultraviolet-induced mutations in Cockayne syndrome cells are primarily caused by cyclobutane dimer photoproducts while repair of other photoproducts is normal.

31 March 2020

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Activation of RNA polymerase I transcription by cockayne syndrome group B protein and histone methyltransferase G9a

31 March 2020

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Host cell reactivation of plasmids containing oxidative DNA lesions is defective in Cockayne syndrome but normal in UV-sensitive syndrome fibroblasts

31 March 2020

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Oxidative damage-induced PCNA complex formation is efficient in xeroderma pigmentosum group A but reduced in Cockayne syndrome group B cells

31 March 2020

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Oxidatively damaged DNA repair defect in cockayne syndrome and its complementation by heterologous repair proteins

31 March 2020

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Primary fibroblasts of Cockayne syndrome patients are defective in cellular repair of 8-hydroxyguanine and 8-hydroxyadenine resulting from oxidative stress

31 March 2020

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Malondialdehyde, a product of lipid peroxidation, is mutagenic in human cells

31 March 2020

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Cockayne syndrome group B protein is engaged in processing of DNA adducts of lipid peroxidation product trans-4-hydroxy-2-nonenal

31 March 2020

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Different effects of CSA and CSB deficiency on sensitivity to oxidative DNA damage

31 March 2020

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The transcriptional response after oxidative stress is defective in Cockayne syndrome group B cells

31 March 2020

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Oxidative nucleotide damage and superoxide dismutase expression in the brains of xeroderma pigmentosum group A and Cockayne syndrome

31 March 2020

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Biochemical and biological characterization of wild-type and ATPase-deficient Cockayne syndrome B repair protein.

31 March 2020

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Human transcription-repair coupling factor CSB/ERCC6 is a DNA-stimulated ATPase but is not a helicase and does not disrupt the ternary transcription complex of stalled RNA polymerase II

31 March 2020

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Cockayne syndrome group B protein enhances elongation by RNA polymerase II

31 March 2020

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Cockayne syndrome group B protein (CSB) plays a general role in chromatin maintenance and remodeling

31 March 2020

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Cockayne syndrome group B protein has novel strand annealing and exchange activities.

31 March 2020

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Cockayne syndrome B protein (CSB): linking p53, HIF-1 and p300 to robustness, lifespan, cancer and cell fate decisions.

31 March 2020

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Cockayne syndrome protein B interacts with and is phosphorylated by c-Abl tyrosine kinase

31 March 2020

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Cooperation of the Cockayne syndrome group B protein and poly(ADP-ribose) polymerase 1 in the response to oxidative stress.

31 March 2020

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Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome

31 March 2020

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8-Oxoguanine DNA glycosylase (Ogg1) causes a transcriptional inactivation of damaged DNA in the absence of functional Cockayne syndrome B (Csb) protein.

31 March 2020

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Mitochondrial repair of 8-oxoguanine is deficient in Cockayne syndrome group B.

31 March 2020

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Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum

31 March 2020

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Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome

31 March 2020

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Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation

31 March 2020

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An abundant evolutionarily conserved CSB-PiggyBac fusion protein expressed in Cockayne syndrome

31 March 2020

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Deletion of 5' sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndrome

31 March 2020

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A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage

31 March 2020

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Oxidative stress and disturbed glutamate transport in hereditary nucleotide repair disorders

31 March 2020

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Striking differences in cellular catalase activity between two DNA repair-deficient diseases: xeroderma pigmentosum and trichothiodystrophy

31 March 2020

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RNA polymerase II bypasses 8-oxoguanine in the presence of transcription elongation factor TFIIS.

31 March 2020

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Single-stranded breaks in DNA but not oxidative DNA base damages block transcriptional elongation by RNA polymerase II in HeLa cell nuclear extracts.

31 March 2020

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The case for 8,5'-cyclopurine-2'-deoxynucleosides as endogenous DNA lesions that cause neurodegeneration in xeroderma pigmentosum

31 March 2020

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Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity

31 March 2020

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Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy.

31 March 2020

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Splitting hairs--discovery of a new DNA repair and transcription factor for the human disease trichothiodystrophy

31 March 2020

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Solution structure and self-association properties of the p8 TFIIH subunit responsible for trichothiodystrophy

31 March 2020

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Structural basis for group A trichothiodystrophy

31 March 2020

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Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.

31 March 2020

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XPD helicase structures and activities: insights into the cancer and aging phenotypes from XPD mutations

31 March 2020

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Structure of the DNA Repair Helicase XPD

31 March 2020

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Crystal Structure of the FeS Cluster–Containing Nucleotide Excision Repair Helicase XPD

31 March 2020

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Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XPD patients

31 March 2020

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Escherichia coli dinG gene encodes a putative DNA helicase related to a group of eukaryotic helicases including Rad3 protein

31 March 2020

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Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH

31 March 2020

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XPD mutations prevent TFIIH-dependent transactivation by nuclear receptors and phosphorylation of RARalpha

31 March 2020

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Dysregulation of the peroxisome proliferator-activated receptor target genes by XPD mutations

31 March 2020

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XPG stabilizes TFIIH, allowing transactivation of nuclear receptors: implications for Cockayne syndrome in XP-G/CS patients

31 March 2020

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Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy

31 March 2020

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A temperature-sensitive disorder in basal transcription and DNA repair in humans

31 March 2020

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Xeroderma pigmentosum and related disorders: defects in DNA repair and transcription

31 March 2020

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Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene

31 March 2020

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Two new XPD patients compound heterozygous for the same mutation demonstrate diverse clinical features

31 March 2020

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Enhanced DDB2 expression protects mice from carcinogenic effects of chronic UV-B irradiation

31 March 2020

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Retinal degeneration and ionizing radiation hypersensitivity in a mouse model for Cockayne syndrome

31 March 2020

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Impaired genome maintenance suppresses the growth hormone--insulin-like growth factor 1 axis in mice with Cockayne syndrome

31 March 2020

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Congenital DNA repair deficiency results in protection against renal ischemia reperfusion injury in mice

31 March 2020

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Roles of poly(ADP-ribose) polymerase activation in the pathogenesis of diabetes mellitus and its complications

31 March 2020

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Clinically asymptomatic xeroderma pigmentosum neurological disease in an adult: evidence for a neurodegeneration in later life caused by defective DNA repair.

31 March 2020

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Targeted deletion of the genes encoding NTH1 and NEIL1 DNA N-glycosylases reveals the existence of novel carcinogenic oxidative damage to DNA.

31 March 2020

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Oxidative damage to purines in DNA: role of mammalian Ogg1.

31 March 2020

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p53 suppression overwhelms DNA polymerase eta deficiency in determining the cellular UV DNA damage response

31 March 2020

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Dramatic extension of tumor latency and correction of neurobehavioral phenotype in Atm-mutant mice with a nitroxide antioxidant

31 March 2020

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Nucleotide excision repair

31 March 2020

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Evidence of ultraviolet type mutations in xeroderma pigmentosum melanomas.

31 March 2020

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High levels of patched gene mutations in basal-cell carcinomas from patients with xeroderma pigmentosum

31 March 2020

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A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis

31 March 2020

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Xeroderma pigmentosum group C protein complex is the initiator of global genome nucleotide excision repair

31 March 2020

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Assembly, subunit composition, and footprint of human DNA repair excision nuclease

31 March 2020

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Influence of XPB helicase on recruitment and redistribution of nucleotide excision repair proteins at sites of UV-induced DNA damage

31 March 2020

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Mechanism of open complex and dual incision formation by human nucleotide excision repair factors

31 March 2020

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Distinct roles for the XPB/p52 and XPD/p44 subcomplexes of TFIIH in damaged DNA opening during nucleotide excision repair

31 March 2020

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Coordination of dual incision and repair synthesis in human nucleotide excision repair

31 March 2020

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The Y-family DNA polymerase kappa (pol kappa) functions in mammalian nucleotide-excision repair

31 March 2020

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Sealing of chromosomal DNA nicks during nucleotide excision repair requires XRCC1 and DNA ligase III alpha in a cell-cycle-specific manner

31 March 2020

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The role of sunlight and DNA repair in melanoma and nonmelanoma skin cancer. The xeroderma pigmentosum paradigm

31 March 2020

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12 December 2020

Activated oncogenes in human skin tumors from a repair-deficient syndrome, xeroderma pigmentosum.

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12 December 2020

Excision repair in xeroderma pigmentosum group C but not group D is clustered in a small fraction of the total genome

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12 December 2020

Failure of RNA synthesis to recover after UV irradiation: an early defect in cells from individuals with Cockayne's syndrome and xeroderma pigmentosum

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12 December 2020

Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases

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12 December 2020

Xeroderma pigmentosum exhibiting neurological disorders and systemic lupus erythematosus

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12 December 2020

Abnormal kinetics of DNA synthesis in ultraviolet light-irradiated cells from patients with Cockayne's syndrome

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12 December 2020

Blockage of RNA polymerase as a possible trigger for u.v. light-induced apoptosis

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12 December 2020

Activation of estrogen receptor alpha by S118 phosphorylation involves a ligand-dependent interaction with TFIIH and participation of CDK7

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12 December 2020

Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein, and transcript levels.

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12 December 2020

UVs syndrome, a new general category of photosensitive disorder with defective DNA repair, is distinct from xeroderma pigmentosum variant and rodent complementation group I.

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12 December 2020

RNA polymerase II stalled on a DNA template during transcription elongation is ubiquitinated and the ubiquitination facilitates displacement of the elongation complex.

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12 December 2020

Disruption of the mouse xeroderma pigmentosum group D DNA repair/basal transcription gene results in preimplantation lethality

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12 December 2020

p53 mutations in skin and internal tumors of xeroderma pigmentosum patients belonging to the complementation group C.

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12 December 2020

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12 December 2020

Gene alterations and clinical characteristics of xeroderma pigmentosum group A patients in Japan

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12 December 2020

Identifiers

DOI

10.1038/NRG2663

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5 August 2017

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