(Q33333583)

English

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

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scholarly article

1 reference

Europe PubMed Central

25 July 2017

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

1 reference

Europe PubMed Central

25 July 2017

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xeroderma pigmentosum

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based on heuristic

inferred from title

trichothiodystrophy

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based on heuristic

inferred from title

Sikandar G Khan

object named as

Sikandar G Khan

7

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Kenneth H Kraemer

object named as

Kenneth H Kraemer

10

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author name string

Jennifer Boyle

1

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Europe PubMed Central

25 July 2017

Takahiro Ueda

2

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Europe PubMed Central

25 July 2017

Kyu-Seon Oh

3

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Europe PubMed Central

25 July 2017

Kyoko Imoto

4

1 reference

Europe PubMed Central

25 July 2017

Deborah Tamura

5

1 reference

Europe PubMed Central

25 July 2017

Jared Jagdeo

6

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Europe PubMed Central

25 July 2017

Carine Nadem

8

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Europe PubMed Central

25 July 2017

John J Digiovanna

9

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Europe PubMed Central

25 July 2017

publication date

1 October 2008

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Europe PubMed Central

25 July 2017

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Europe PubMed Central

25 July 2017

29

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Europe PubMed Central

25 July 2017

1194-1208

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Europe PubMed Central

25 July 2017

10

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Europe PubMed Central

25 July 2017

describes a project that uses

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

Translesion synthesis: Y-family polymerases and the polymerase switch

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

Dynamic interaction of TTDA with TFIIH is stabilized by nucleotide excision repair in living cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

DNA damage repair: anytime, anywhere?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

The FUSE/FBP/FIR/TFIIH system is a molecular machine programming a pulse of c-myc expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

Characterization of tiger-tail banding and hair shaft abnormalities in trichothiodystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

TFIIH operates through an expanded proximal promoter to fine-tune c-myc expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

UV-induced expression of key component of the tanning process, the POMC and MC1R genes, is dependent on the p-38-activated upstream stimulating factor-1 (USF-1)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

Trichothiodystrophy fibroblasts are deficient in the repair of ultraviolet-induced cyclobutane pyrimidine dimers and (6-4)photoproducts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

Xeroderma pigmentosum variant and error-prone DNA polymerases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

Local action of the chromatin assembly factor CAF-1 at sites of nucleotide excision repair in vivo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

Mutations in the XPD gene in xeroderma pigmentosum group D cell strains: confirmation of genotype-phenotype correlation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

The Usf-1 transcription factor is a novel target for the stress-responsive p38 kinase and mediates UV-induced Tyrosinase expression.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

Sequential assembly of the nucleotide excision repair factors in vivo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

Quantitation and visualization of ultraviolet-induced DNA damage using specific antibodies: application to pigment cell biology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

Defective interplay of activators and repressors with TFIH in xeroderma pigmentosum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

Cockayne syndrome and xeroderma pigmentosum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

The cancer-free phenotype in trichothiodystrophy is unrelated to its repair defect

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

TFIIH with inactive XPD helicase functions in transcription initiation but is defective in DNA repair.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

The relative expression of mutated XPB genes results in xeroderma pigmentosum/Cockayne's syndrome or trichothiodystrophy cellular phenotypes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

Three-dimensional visualization of ultraviolet-induced DNA damage and its repair in human cell nuclei.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

Prolonged p53 protein accumulation in trichothiodystrophy fibroblasts dependent on unrepaired pyrimidine dimers on the transcribed strands of cellular genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

Competent transcription initiation by RNA polymerase II in cell-free extracts from xeroderma pigmentosum groups B and D in an optimized RNA transcription assay

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

Photocarcinogenesis and inhibition of intercellular adhesion molecule 1 expression in cells of DNA-repair-defective individuals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

Sunlight and skin cancer: another link revealed

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

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

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

https://api.crossref.org/works/10.1002%2FHUMU.20768

7 January 2021

based on heuristic

inferred from DOI database lookup

Human xeroderma pigmentosum group D gene encodes a DNA helicase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

The human DNA repair gene, ERCC2 (XPD), corrects ultraviolet hypersensitivity and ultraviolet hypermutability of a shuttle vector replicated in xeroderma pigmentosum group D cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

Different removal of ultraviolet photoproducts in genetically related xeroderma pigmentosum and trichothiodystrophy diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

A rapid procedure for measurement of DNA repair in human fibroblasts and for complementation analysis of xeroderma pigmentosum cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

Genetic heterogeneity in ataxia-telangiectasia studied by cell fusion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

Trichothiodystrophy, a human DNA repair disorder with heterogeneity in the cellular response to ultraviolet light

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

ERCC2: cDNA cloning and molecular characterization of a human nucleotide excision repair gene with high homology to yeast RAD3

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

Simultaneous establishment of monoclonal antibodies specific for either cyclobutane pyrimidine dimer or (6-4)photoproduct from the same mouse immunized with ultraviolet-irradiated DNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

Prenatal diagnosis in a subset of trichothiodystrophy patients defective in DNA repair

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

Xeroderma pigmentosum neurological abnormalities correlate with colony-forming ability after ultraviolet radiation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

Genetic heterogeneity in xeroderma pigmentosum: complementation groups and their relationship to DNA repair rates

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

21 June 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20768

21 January 2018

Three unusual repair deficiencies associated with transcription factor BTF2(TFIIH): evidence for the existence of a transcription syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20768

21 January 2018

Differential repair of the two major UV-induced photolesions in trichothiodystrophy fibroblasts.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

31 October 2018

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.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

31 October 2018

Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477783

31 October 2018

https://api.crossref.org/works/10.1002%2FHUMU.20768

7 January 2021

based on heuristic

inferred from DOI database lookup

An SV40-transformed xeroderma pigmentosum group D cell line: establishment, ultraviolet sensitivity, transfection efficiency and plasmid mutation induction

1 reference

https://pubmed.ncbi.nlm.nih.gov/18470933

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

New Histone Incorporation Marks Sites of UV Repair in Human Cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/18470933

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/18470933

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

p53 gene mutations in human skin cancers

1 reference

https://pubmed.ncbi.nlm.nih.gov/18470933

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The total amount of DNA damage determines ultraviolet-radiation-induced cytotoxicity after uniformor localized irradiation of human cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/18470933

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA repair. Engagement with transcription

1 reference

https://pubmed.ncbi.nlm.nih.gov/18470933

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/HUMU.20768

1 reference

Europe PubMed Central

25 July 2017

1 reference

Europe PubMed Central

25 July 2017

1 reference

Europe PubMed Central

25 July 2017

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0 references

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