Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome (Q24538671)

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B Tanganelli

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H Steingrimsdottir

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A J van Gool

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C Troelstra

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M Stefanini

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A R Lehmann

American Journal of Human Genetics

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language of work or name

English

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publication date

January 1998

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published in

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volume

62

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page(s)

77-85

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issue

1

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cites work

Cockayne syndrome: defective repair of transcription?

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Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)

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

24 March 2017

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Molecular cloning of the human DNA excision repair gene ERCC-6

24 March 2017

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Rapid and efficient site-specific mutagenesis without phenotypic selection

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RSC, an essential, abundant chromatin-remodeling complex

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RAD26, the functional S. cerevisiae homolog of the Cockayne syndrome B gene ERCC6.

24 March 2017

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

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

24 March 2017

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ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome

24 March 2017

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Nomenclature of human DNA repair genes

24 March 2017

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

24 March 2017

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

24 March 2017

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

24 March 2017

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Reduced RNA polymerase II transcription in intact and permeabilized Cockayne syndrome group B cells

27 September 2017

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

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TFIIH: a key component in multiple DNA transactions

27 September 2017

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

27 September 2017

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Nucleotide excision repair and the link with transcription

27 September 2017

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Nucleotide excision repair. II: From yeast to mammals

27 September 2017

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

27 September 2017

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The SWI-SNF complex: a chromatin remodeling machine?

27 September 2017

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Cockayne syndrome: Review of 140 cases

27 September 2017

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Cockayne's syndrome: correlation of clinical features with cellular sensitivity of RNA synthesis to UV irradiation

27 September 2017

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Comparison of cellular sensitivity to UV killing with neuropsychological impairment in Cockayne syndrome patients.

30 May 2018

1 reference

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Normal pressure hydrocephalus. Recognition and relationship to neurological abnormalities in Cockayne's syndrome

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376810

A Human Subject with A New Defect in Repair of Ultraviolet Damage

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376810

Effects of DNA damaging agents on cultured fibroblasts derived from patients with Cockayne syndrome

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376810

Molecular mechanism of transcription-repair coupling.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376810

Genetic analysis of twenty-two patients with Cockayne syndrome.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376810

Molecular analysis of mutations in the hprt gene in circulating lymphocytes from normal and DNA-repair-deficient donors

29 November 2018

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12 December 2020

DNA repair. Engagement with transcription

1 reference

12 December 2020

Genetic complementation groups in Cockayne syndrome

1 reference

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

1 reference

12 December 2020

Early onset of Cockayne syndrome

1 reference

12 December 2020

Three complementation groups in Cockayne syndrome

1 reference

12 December 2020

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

Crossref

https://api.crossref.org/works/10.1086%2F301686

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1086/301686

1 reference

1310834

1310834

1 reference

1 reference

1 reference