(Q34063966)

30 July 2017

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title

Xeroderma pigmentosum and related disorders: defects in DNA repair and transcription (English)

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30 July 2017

main subject

xeroderma pigmentosum

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Berneburg M

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30 July 2017

Lehmann AR

series ordinal

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30 July 2017

publication date

1 January 2001

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30 July 2017

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30 July 2017

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30 July 2017

page(s)

71-102

1 reference

The influence of caffeine on cell survival in excision-proficient and excision-deficient xeroderma pigmentosum and normal human cell strains following ultraviolet-light irradiation

30 July 2017

cites work

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7 January 2021

The XPA protein is a zinc metalloprotein with an ability to recognize various kinds of DNA damage

1 reference

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7 January 2021

Nucleosome unfolding during DNA repair in normal and xeroderma pigmentosum (group C) human cells

1 reference

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7 January 2021

Defective global genome repair in XPC mice is associated with skin cancer susceptibility but not with sensitivity to UVB induced erythema and edema

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

UV damage causes uncontrolled DNA breakage in cells from patients with combined features of XP-D and Cockayne syndrome

1 reference

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7 January 2021

Nucleotide excision repair 3' endonuclease XPG stimulates the activity of base excision repairenzyme thymine glycol DNA glycosylase

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7 January 2021

Molecular cloning and characterization of Saccharomyces cerevisiae RAD28, the yeast homolog of the human Cockayne syndrome A (CSA) gene

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7 January 2021

DNA repair. Engagement with transcription

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7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Sunlight and the onset of skin cancer

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7 January 2021

UV-induced mutations and skin cancer: how important is the link?

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7 January 2021

Extended X-ray absorption fine structure evidence for a single metal binding domain in Xenopus laevis nucleotide excision repair protein XPA.

1 reference

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7 January 2021

Synergistic interactions between XPC and p53 mutations in double-mutant mice: neural tube abnormalities and accelerated UV radiation-induced skin cancer.

1 reference

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7 January 2021

Characterization of defective nucleotide excision repair in XPC mutant mice

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7 January 2021

Xeroderma pigmentosum group E cells lack a nuclear factor that binds to damaged DNA

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

XPG protein has a structure-specific endonuclease activity

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Mutations in XPB and XPD helicases found in xeroderma pigmentosum patients impair the transcription function of TFIIH.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Defective transcription-coupled repair of oxidative base damage in Cockayne syndrome patients from XP group G

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Replication fork bypass of a pyrimidine dimer blocking leading strand DNA synthesis

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Impaired translesion synthesis in xeroderma pigmentosum variant extracts

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Molecular mechanism of nucleotide excision repair.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Dual role of TFIIH in DNA excision repair and in transcription by RNA polymerase II

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Evolution of the SNF2 family of proteins: subfamilies with distinct sequences and functions

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Bypass of a site-specific cis-Syn thymine dimer in an SV40 vector during in vitro replication by HeLa and XPV cell-free extracts

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Open complex formation around a lesion during nucleotide excision repair provides a structure for cleavage by human XPG protein

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Dual roles of a multiprotein complex from S. cerevisiae in transcription and DNA repair

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Cockayne syndrome--a primary defect in DNA repair, transcription, both or neither?

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Impaired interferon production and natural killer cell activation in patients with the skin cancer-prone disorder, xeroderma pigmentosum

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

RAD25 is a DNA helicase required for DNA repair and RNA polymerase II transcription

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Postnatal growth failure, short life span, and early onset of cellular senescence and subsequent immortalization in mice lacking the xeroderma pigmentosum group G gene

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Human nucleotide excision repair protein XPA: extended X-ray absorption fine-structure evidence for a metal-binding domain

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

TFIIH: a key component in multiple DNA transactions

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Low catalase activity in xeroderma pigmentosum fibroblasts and SV40-transformed human cell lines is directly related to decreased intracellular levels of the cofactor, NADPH.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

p48 Activates a UV-damaged-DNA binding factor and is defective in xeroderma pigmentosum group E cells that lack binding activity

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Interactions involving the human RNA polymerase II transcription/nucleotide excision repair complex TFIIH, the nucleotide excision repair protein XPG, and Cockayne syndrome group B (CSB) protein

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

hRAD30 mutations in the variant form of xeroderma pigmentosum

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Efficient bypass of a thymine-thymine dimer by yeast DNA polymerase, Poleta

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Preferential binding of the xeroderma pigmentosum group A complementing protein to damaged DNA.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Biochemical heterogeneity in xeroderma pigmentosum complementation group E

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Base excision repair of oxidative DNA damage activated by XPG protein

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Transcription-coupled repair of 8-oxoguanine: requirement for XPG, TFIIH, and CSB and implications for Cockayne syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Nucleotide excision repair and the link with transcription

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Characterization of molecular defects in xeroderma pigmentosum group C

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Interactions of the transcription/DNA repair factor TFIIH and XP repair proteins with DNA lesions in a cell-free repair assay.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

The xeroderma pigmentosum group B protein ERCC3 produced in the baculovirus system exhibits DNA helicase activity

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Frequency of ultraviolet light-induced mutations is higher in xeroderma pigmentosum variant cells than in normal human cells

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Characteristics of UV-induced mutation spectra in human XP-D/ERCC2 gene-mutated xeroderma pigmentosum and trichothiodystrophy cells

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Xeroderma pigmentosum variant (XP-V) correcting protein from HeLa cells has a thymine dimer bypass DNA polymerase activity

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

High Prevalence of Mutations in the p53 Gene in Poorly Differentiated Squamous Cell Carcinomas in Xeroderma Pigmentosum Patients

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Mice with DNA repair gene (ERCC-1) deficiency have elevated levels of p53, liver nuclear abnormalities and die before weaning

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Implications of the zinc-finger motif found in the DNA-binding domain of the human XPA protein

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Model for XPC-independent transcription-coupled repair of pyrimidine dimers in humans

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Ultraviolet mutagenesis of normal and xeroderma pigmentosum variant human fibroblasts

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

High incidence of ultraviolet-B-or chemical-carcinogen-induced skin tumours in mice lacking the xeroderma pigmentosum group A gene

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Cockayne syndrome: Review of 140 cases

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Mutations specific to the xeroderma pigmentosum group E Ddb- phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

DNA damage recognition by XPA protein promotes efficient recruitment of transcription factor II H.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Immune function, mutant frequency, and cancer risk in the DNA repair defective genodermatoses xeroderma pigmentosum, Cockayne's syndrome, and trichothiodystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

XPG endonuclease makes the 3' incision in human DNA nucleotide excision repair

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

SWI2/SNF2 and related proteins: ATP-driven motors that disrupt protein-DNA interactions?

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Ultraviolet-B-induced apoptosis and cytokine release in xeroderma pigmentosum keratinocytes

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Retroviral-mediated correction of DNA repair defect in xeroderma pigmentosum cells is associated with recovery of catalase activity

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Relationship of the xeroderma pigmentosum group E DNA repair defect to the chromatin and DNA binding proteins UV-DDB and replication protein A.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Xeroderma pigmentosum. An inherited diseases with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Evidence that lack of deoxyribonucleic acid repair causes death of neurons in xeroderma pigmentosum

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

High susceptibility to ultraviolet-induced carcinogenesis in mice lacking XPC

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

The ERCC2/DNA repair protein is associated with the class II BTF2/TFIIH transcription factor

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Xeroderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Analysis of a human DNA excision repair gene involved in group A xeroderma pigmentosum and containing a zinc-finger domain

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

RNA polymerase II elongation complexes containing the Cockayne syndrome group B protein interact with a molecular complex containing the transcription factor IIH components xeroderma pigmentosum B and p62

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Conservation of eukaryotic DNA repair mechanisms.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Reconstitution of the transcription factor TFIIH: assignment of functions for the three enzymatic subunits, XPB, XPD, and cdk7

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

The Cockayne syndrome B protein, involved in transcription-coupled DNA repair, resides in an RNA polymerase II-containing complex

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Cockayne syndrome: defective repair of transcription?

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Deficient repair of the transcribed strand of active genes in Cockayne's syndrome cells

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

The sensitivity of Cockayne's syndrome cells to DNA-damaging agents is not due to defective transcription-coupled repair of active genes

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Evidence from mutation spectra that the UV hypermutability of xeroderma pigmentosum variant cells reflects abnormal, error-prone replication on a template containing photoproducts

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Disruption of mouse ERCC1 results in a novel repair syndrome with growth failure, nuclear abnormalities and senescence

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

DNA repair in eukaryotes

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Nucleotide excision repair in mammalian cells

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

Trichothiodystrophy: review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943004-5

7 January 2021

10.1016/S0065-2660(01)43004-5

Identifiers

DOI

1 reference

30 July 2017

1 reference