(Q46465906)

22 December 2017

review article

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title

Cancer in xeroderma pigmentosum and related disorders of DNA repair (English)

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22 December 2017

main subject

xeroderma pigmentosum

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James E Cleaver

1

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22 December 2017

language of work or name

English

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publication date

1 July 2005

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22 December 2017

published in

Nature Reviews Cancer

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22 December 2017

volume

5

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22 December 2017

issue

7

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22 December 2017

page(s)

564-573

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22 December 2017

https://scigraph.springernature.com/pub.10.1038/nrc1652

exact match

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cites work

Human DNA repair genes

1 reference

Damage recognition in nucleotide excision repair of DNA.

21 January 2018

1 reference

The comings and goings of nucleotide excision repair factors on damaged DNA

21 January 2018

1 reference

Molecular mechanisms of mammalian DNA repair and the DNA damage checkpoints

21 January 2018

1 reference

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

21 January 2018

1 reference

Rescue of arrested RNA polymerase II complexes

21 January 2018

1 reference

Sequential assembly of the nucleotide excision repair factors in vivo

21 January 2018

1 reference

Reinvestigation of the classification of five cell strains of xeroderma pigmentosum group E with reclassification of three of them.

21 January 2018

1 reference

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

21 January 2018

1 reference

Expression of the p48 xeroderma pigmentosum gene is p53-dependent and is involved in global genomic repair

21 January 2018

1 reference

Xeroderma pigmentosum p48 gene enhances global genomic repair and suppresses UV-induced mutagenesis

21 January 2018

1 reference

Nuclear transport of human DDB protein induced by ultraviolet light

21 January 2018

1 reference

The naturally occurring mutants of DDB are impaired in stimulating nuclear import of the p125 subunit and E2F1-activated transcription

21 January 2018

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p53 Binds and activates the xeroderma pigmentosum DDB2 gene in humans but not mice.

21 January 2018

1 reference

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

21 January 2018

1 reference

DNA damage recognition during nucleotide excision repair in mammalian cells

21 January 2018

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UV radiation-induced XPC translocation within chromatin is mediated by damaged-DNA binding protein, DDB2.

21 January 2018

1 reference

A comparative analysis of transcribed genes in the mouse hypothalamus and neocortex reveals chromosomal clustering

21 January 2018

1 reference

Nucleotide excision repair in mammalian cells

21 January 2018

1 reference

Centrosome protein centrin 2/caltractin 1 is part of the xeroderma pigmentosum group C complex that initiates global genome nucleotide excision repair

21 January 2018

1 reference

Expression of wild-type p53 is required for efficient global genomic nucleotide excision repair in UV-irradiated human fibroblasts

21 January 2018

1 reference

Apoptosis and efficient repair of DNA damage protect human keratinocytes against UVB.

21 January 2018

1 reference

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

21 January 2018

1 reference

Transcription-coupled and DNA damage-dependent ubiquitination of RNA polymerase II in vitro

21 January 2018

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Transcription-coupled repair in yeast is independent from ubiquitylation of RNA pol II: implications for Cockayne's syndrome

21 January 2018

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Transcription-dependent polyubiquitination of RNA polymerase II requires lysine 63 of ubiquitin

21 January 2018

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Cockayne syndrome group B protein enhances elongation by RNA polymerase II

21 January 2018

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Human transcription release factor 2 dissociates RNA polymerases I and II stalled at a cyclobutane thymine dimer

21 January 2018

1 reference

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

21 January 2018

1 reference

Translocation of Cockayne syndrome group A protein to the nuclear matrix: possible relevance to transcription-coupled DNA repair

21 January 2018

1 reference

Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes

21 January 2018

1 reference

Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy

21 January 2018

1 reference

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

21 January 2018

1 reference

21 January 2018

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Activity of individual ERCC1 and XPF subunits in DNA nucleotide excision repair

21 January 2018

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In vivo dynamics of chromatin-associated complex formation in mammalian nucleotide excision repair

21 January 2018

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The structure-specific endonuclease Ercc1-Xpf is required to resolve DNA interstrand cross-link-induced double-strand breaks

21 January 2018

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Definition of a short region of XPG necessary for TFIIH interaction and stable recruitment to sites of UV damage

21 January 2018

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Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease

21 January 2018

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Growth retardation, early death, and DNA repair defects in mice deficient for the nucleotide excision repair enzyme XPF

21 January 2018

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The role of chromosomal instability in tumor initiation

21 January 2018

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hRAD30 mutations in the variant form of xeroderma pigmentosum

21 January 2018

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

21 January 2018

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Localization of DNA polymerases eta and iota to the replication machinery is tightly co-ordinated in human cells.

21 January 2018

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Interaction of human DNA polymerase eta with monoubiquitinated PCNA: a possible mechanism for the polymerase switch in response to DNA damage

21 January 2018

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Induction of somatic hypermutation in immunoglobulin genes is dependent on DNA polymerase iota.

21 January 2018

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Human DNA polymerase-eta, an A-T mutator in somatic hypermutation of rearranged immunoglobulin genes, is a reverse transcriptase

21 January 2018

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DNA polymerase eta is an A-T mutator in somatic hypermutation of immunoglobulin variable genes

21 January 2018

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Absence of DNA polymerase eta reveals targeting of C mutations on the nontranscribed strand in immunoglobulin switch regions

21 January 2018

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Domain structure, localization, and function of DNA polymerase eta, defective in xeroderma pigmentosum variant cells

21 January 2018

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Polymerase eta deficiency in the xeroderma pigmentosum variant uncovers an overlap between the S phase checkpoint and double-strand break repair

21 January 2018

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UV-induced replication arrest in the xeroderma pigmentosum variant leads to DNA double-strand breaks, gamma -H2AX formation, and Mre11 relocalization

21 January 2018

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Activation of p53 sequence-specific DNA binding by short single strands of DNA requires the p53 C-terminus

21 January 2018

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Inhibition of DNA replication factor RPA by p53.

21 January 2018

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Interaction of p53 with the human Rad51 protein

21 January 2018

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Alternative recombination pathways in UV-irradiated XP variant cells

21 January 2018

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Terminally differentiated human neurons repair transcribed genes but display attenuated global DNA repair and modulation of repair gene expression

21 January 2018

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Cellular ubiquitination and proteasomal functions positively modulate mammalian nucleotide excision repair

21 January 2018

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Reduced levels of XPA, ERCC1 and XPF DNA repair proteins in testis tumor cell lines.

21 January 2018

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DNA polymerase eta undergoes alternative splicing, protects against UV sensitivity and apoptosis, and suppresses Mre11-dependent recombination

21 January 2018

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Evidence for detective repair of cyclobutane pyrimidine dimers with normal repair of other DNA photoproducts in a transcriptionally active gene transfected into Cockayne syndrome cells

21 January 2018

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

21 January 2018

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Removal of oxygen free-radical-induced 5',8-purine cyclodeoxynucleosides from DNA by the nucleotide excision-repair pathway in human cells

21 January 2018

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The XPB subunit of repair/transcription factor TFIIH directly interacts with SUG1, a subunit of the 26S proteasome and putative transcription factor

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy

21 January 2018

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Malondialdehyde adducts in DNA arrest transcription by T7 RNA polymerase and mammalian RNA polymerase II.

21 January 2018

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Oxidative stress and disturbed glutamate transport in hereditary nucleotide repair disorders

21 January 2018

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Purkinje cell degeneration in mice lacking the xeroderma pigmentosum group G gene.

21 January 2018

1 reference

The ubiquitin proteasome system in neurodegenerative diseases: sometimes the chicken, sometimes the egg.

21 January 2018

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DDB2 gene disruption leads to skin tumors and resistance to apoptosis after exposure to ultraviolet light but not a chemical carcinogen

21 January 2018

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UVB radiation-induced cancer predisposition in Cockayne syndrome group A (Csa) mutant mice.

21 January 2018

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Increased susceptibility to ultraviolet-B and carcinogens of mice lacking the DNA excision repair gene XPA.

21 January 2018

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UV-induced skin carcinogenesis in xeroderma pigmentosum group A (XPA) gene-knockout mice with nucleotide excision repair-deficiency

21 January 2018

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Early postnatal ataxia and abnormal cerebellar development in mice lacking Xeroderma pigmentosum Group A and Cockayne syndrome Group B DNA repair genes

21 January 2018

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Premature aging in mice deficient in DNA repair and transcription

21 January 2018

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Severe growth retardation and short life span of double-mutant mice lacking Xpa and exon 15 of Xpg.

21 January 2018

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

21 January 2018

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Divide and conquer: nucleotide excision repair battles cancer and ageing

21 January 2018

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Identification of the XPG region that causes the onset of Cockayne syndrome by using Xpg mutant mice generated by the cDNA-mediated knock-in method

21 January 2018

1 reference

Reduced hematopoietic reserves in DNA interstrand crosslink repair-deficient Ercc1-/- mice

21 January 2018

1 reference

Contribution of DNA polymerase eta to immunoglobulin gene hypermutation in the mouse

21 January 2018

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129-derived strains of mice are deficient in DNA polymerase iota and have normal immunoglobulin hypermutation

21 January 2018

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A global DNA repair mechanism involving the Cockayne syndrome B (CSB) gene product can prevent the in vivo accumulation of endogenous oxidative DNA base damage

21 January 2018

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Requirement for the Xrcc1 DNA base excision repair gene during early mouse development

21 January 2018

1 reference

Rescue of Xrcc1 knockout mouse embryo lethality by transgene-complementation.

21 January 2018

1 reference

Structure and function of telomeres

21 January 2018

1 reference

Gene transduction in skin cells: preventing cancer in xeroderma pigmentosum mice

21 January 2018

1 reference

Effect of topically applied T4 endonuclease V in liposomes on skin cancer in xeroderma pigmentosum: a randomised study. Xeroderma Pigmentosum Study Group

21 January 2018

1 reference

Chemoprevention of Skin Cancer in Xeroderma Pigmentosum

21 January 2018

1 reference

Chemical shift changes provide evidence for overlapping single-stranded DNA- and XPA-binding sites on the 70 kDa subunit of human replication protein A

21 January 2018

1 reference

Crystal structure of a Y-family DNA polymerase in action: a mechanism for error-prone and lesion-bypass replication

21 January 2018

1 reference

Cockayne syndrome: Review of 140 cases

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

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The 26S proteasome negatively regulates the level of overall genomic nucleotide excision repair

21 January 2018

1 reference

The comparative proteomics of ubiquitination in mouse

21 January 2018

1 reference

Ubiquitin-dependent protein degradation

21 January 2018

1 reference

Ubiquitination and deubiquitination: targeting of proteins for degradation by the proteasome

21 January 2018

1 reference

Rad23 links DNA repair to the ubiquitin/proteasome pathway

21 January 2018

1 reference

Ubiquitin-associated (UBA) domains in Rad23 bind ubiquitin and promote inhibition of multi-ubiquitin chain assembly

21 January 2018

1 reference

The 19S complex of the proteasome regulates nucleotide excision repair in yeast.

21 January 2018

1 reference

A role for Rad23 proteins in 26S proteasome-dependent protein degradation?

21 January 2018

1 reference

RAD6-dependent DNA repair is linked to modification of PCNA by ubiquitin and SUMO.

21 January 2018

1 reference

The Y-family of DNA polymerases

21 January 2018

1 reference

Structure of the catalytic core of S. cerevisiae DNA polymerase eta: implications for translesion DNA synthesis

21 January 2018

1 reference

Preferential cis-syn thymine dimer bypass by DNA polymerase eta occurs with biased fidelity.

21 January 2018

1 reference

Low fidelity DNA synthesis by human DNA polymerase-eta.

21 January 2018

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Eukaryotic polymerases iota and zeta act sequentially to bypass DNA lesions

21 January 2018

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Evolution of the two-step model for UV-mutagenesis

21 January 2018

1 reference

21 January 2018

Aneuploidy and cancer

1 reference

Human damage-specific DNA-binding protein p48. Characterization of XPE mutations and regulation following UV irradiation.

21 January 2018

1 reference

Purification and cloning of a nucleotide excision repair complex involving the xeroderma pigmentosum group C protein and a human homologue of yeast RAD23

31 March 2020

1 reference

A summary of mutations in the UV-sensitive disorders: Xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy

31 March 2020

1 reference

Repair replication, unscheduled DNA synthesis, and the repair of mammalian DNA.

31 March 2020

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Finishing the euchromatic sequence of the human genome

31 March 2020

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31 March 2020

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Transcription coupled repair efficiency determines the cell cycle progression and apoptosis after UV exposure in hamster cells.

31 March 2020

1 reference

Fate of RNA polymerase II stalled at a cisplatin lesion

31 March 2020

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Factors regulating the transcriptional elongation activity of RNA polymerase II

31 March 2020

1 reference

The CSB protein actively wraps DNA.

31 March 2020

1 reference

A single-site mutation in the XPAC gene alters photoproduct recognition

31 March 2020

1 reference

Molecular analysis of the XP-D gene in Italian families with patients affected by trichothiodystrophy and xeroderma pigmentosum group D

31 March 2020

1 reference

Regulation of the DNA replication fork: a way to fight genomic instability

31 March 2020

1 reference

Human p53 binds Holliday junctions strongly and facilitates their cleavage

31 March 2020

1 reference

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

31 March 2020

1 reference

DNA repair helicase: a component of BTF2 (TFIIH) basic transcription factor

31 March 2020

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Cell type-specific hypersensitivity to oxidative damage in CSB and XPA mice

31 March 2020

1 reference

Defective ubiquitination of cerebral proteins in Alzheimer's disease

31 March 2020

1 reference

Parkin-associated Parkinson's disease

31 March 2020

1 reference

Database of mouse strains carrying targeted mutations in genes affecting cellular responses to DNA damage. Version 2

31 March 2020

1 reference

Loss of neuronal cell cycle control in ataxia-telangiectasia: a unified disease mechanism.

31 March 2020

1 reference

Species- and cell type-specific requirements for cellular transformation

31 March 2020

1 reference

Prenatal diagnosis of xeroderma pigmentosum and Cockayne syndrome.

31 March 2020

1 reference

Defective Repair Replication of DNA in Xeroderma Pigmentosum

31 March 2020

1 reference

UV-damaged DNA-binding proteins are targets of CUL-4A-mediated ubiquitination and degradation

31 March 2020

1 reference

The 19S Regulatory Complex of the Proteasome Functions Independently of Proteolysis in Nucleotide Excision Repair

31 March 2020

1 reference

DNA polymerases: structural diversity and common mechanisms

31 March 2020

1 reference

Fidelity of human DNA polymerase eta

31 March 2020

1 reference

Xeroderma pigmentosum variant cells are less likely than normal cells to incorporate dAMP opposite photoproducts during replication of UV-irradiated plasmids

31 March 2020

1 reference

Sensitivity of excision repair in normal human, xeroderma pigmentosum variant and Cockayne's syndrome fibroblasts to inhibition by cytosine arabinoside

31 March 2020

1 reference

31 March 2020

Identifiers

DOI

10.1038/NRC1652

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22 December 2017

PubMed ID

16069818

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22 December 2017