Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patients (Q33539726)

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19 January 2020

title

Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patients (English)

1 reference

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19 January 2020

1 reference

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19 January 2020

Anwaar Ahmad

1 reference

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19 January 2020

Jacqueline H Enzlin

1 reference

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19 January 2020

Nils Wijgers

1 reference

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19 January 2020

Anja Raams

1 reference

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19 January 2020

Esther Appledoorn

1 reference

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19 January 2020

Arjan F Theil

1 reference

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19 January 2020

Jan H J Hoeijmakers

1 reference

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19 January 2020

Wim Vermeulen

1 reference

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19 January 2020

Nicolaas G J Jaspers

1 reference

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19 January 2020

Orlando D Schärer

1 reference

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19 January 2020

Laura J Niedernhofer

1 reference

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19 January 2020

publication date

5 March 2010

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19 January 2020

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19 January 2020

volume

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19 January 2020

issue

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19 January 2020

page(s)

e1000871

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Creative Commons Attribution 4.0 International

19 January 2020

start time

5 March 2010

1 reference

April 2022 Public Data File from Crossref

copyrighted

0 references

cites work

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

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

21 June 2018

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

21 June 2018

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First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure

21 June 2018

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

21 June 2018

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UV-induced ubiquitylation of XPC complex, the UV-DDB-ubiquitin ligase complex, and DNA repair

21 June 2018

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

21 June 2018

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The DDB1-CUL4ADDB2 ubiquitin ligase is deficient in xeroderma pigmentosum group E and targets histone H2A at UV-damaged DNA sites

21 June 2018

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Increased genomic instability is not a prerequisite for shortened lifespan in DNA repair deficient mice

21 June 2018

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21 June 2018

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

21 June 2018

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Nuclear transport and cancer: from mechanism to intervention

21 June 2018

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21 June 2018

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

21 June 2018

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Nuclear export of the APC tumour suppressor controls beta-catenin function in transcription

21 June 2018

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NF-kappaB in cancer: from innocent bystander to major culprit

21 June 2018

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The active site of the DNA repair endonuclease XPF-ERCC1 forms a highly conserved nuclease motif

21 June 2018

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Premature aging in mice deficient in DNA repair and transcription

21 June 2018

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BARD1 induces BRCA1 intranuclear foci formation by increasing RING-dependent BRCA1 nuclear import and inhibiting BRCA1 nuclear export

21 June 2018

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Sequential assembly of the nucleotide excision repair factors in vivo

21 June 2018

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Xeroderma pigmentosum--bridging a gap between clinic and laboratory.

21 June 2018

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

21 June 2018

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

21 June 2018

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XAB2, a novel tetratricopeptide repeat protein involved in transcription-coupled DNA repair and transcription

21 June 2018

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21 June 2018

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

21 June 2018

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

21 June 2018

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Mapping of interaction domains between human repair proteins ERCC1 and XPF

21 June 2018

1 reference

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Characterization of molecular defects in xeroderma pigmentosum group F in relation to its clinically mild symptoms

21 June 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 June 2018

1 reference

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DNA structural elements required for ERCC1-XPF endonuclease activity.

21 June 2018

1 reference

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Retrovirus-mediated gene transfer corrects DNA repair defect of xeroderma pigmentosum cells of complementation groups A, B and C

21 June 2018

1 reference

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832669

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832669

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832669

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832669

Retracted: A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832669

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832669

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832669

Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832669

Co-correction of the ERCC1, ERCC4 and xeroderma pigmentosum group F DNA repair defects in vitro

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832669

Specific association between the human DNA repair proteins XPA and ERCC1

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832669

Specific cleavage of model recombination and repair intermediates by the yeast Rad1-Rad10 DNA endonuclease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832669

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832669

Nucleotide excision repair DNA synthesis by DNA polymerase epsilon in the presence of PCNA, RFC, and RPA.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832669

Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832669

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832669

Partial characterization of the DNA repair protein complex, containing the ERCC1, ERCC4, ERCC11 and XPF correcting activities

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832669

Microinjection of human cell extracts corrects xeroderma pigmentosum defect

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832669

Influence of cumene hydroperoxide and 4-hydroxynonenal on the glutathione metabolism during in vitro ageing of human skin fibroblasts

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832669

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832669

Use of in vivo and in vitro assays for the characterization of mammalian excision repair and isolation of repair proteins

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832669

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832669

Neurological disease in xeroderma pigmentosum. Documentation of a late onset type of the juvenile onset form

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832669

Two distinct mechanisms alter p53 in breast cancer: mutation and nuclear exclusion

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832669

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832669

A sixth complementation group in xeroderma pigmentosum

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832669

A rapid non-radioactive technique for measurement of repair synthesis in primary human fibroblasts by incorporation of ethynyl deoxyuridine (EdU).

21 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000871

Cytoplasmic mislocalization of p27Kip1 protein is associated with constitutive phosphorylation of Akt or protein kinase B and poor prognosis in acute myelogenous leukemia

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20221251

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Repair of damage by ultraviolet radiation in xeroderma pigmentosum cell strains of complementation groups E and F

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20221251

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PGEN.1000871

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20221251%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20221251%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

PubMed publication ID

20221251

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20221251%20AND%20SRC:MED&resulttype=core&format=json