Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. (Q39931897)

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11 February 2020

meta-analysis

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title

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome (English)

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Valérie Cormier-Daire

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V Laugel

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C Dalloz

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M Durand

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F Sauvanaud

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U Kristensen

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M C Vincent

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L Pasquier

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S Odent

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B Gener

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E S Tobias

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J L Tolmie

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D Martin-Coignard

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V Drouin-Garraud

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D Heron

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H Journel

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E Raffo

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D Gubser-Mercati

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L Brueton

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J Sanchez Del Pozo

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E Muñoz

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A R Gennery

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Z Stark

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language of work or name

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1 February 2010

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volume

31

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issue

2

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page(s)

113-126

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

11 February 2020

cites work

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

21 January 2018

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

21 January 2018

1 reference

7 January 2021

The CSB protein actively wraps DNA.

1 reference

7 January 2021

UMD (Universal mutation database): a generic software to build and analyze locus-specific databases

1 reference

7 January 2021

Cockayne syndrome type A: novel mutations in eight typical patients.

1 reference

7 January 2021

CSB is a component of RNA pol I transcription

1 reference

7 January 2021

CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism

1 reference

7 January 2021

Functional consequences of mutations in the conserved SF2 motifs and post-translational phosphorylation of the CSB protein

1 reference

7 January 2021

The Cockayne syndrome group B protein is a functional dimer.

1 reference

7 January 2021

ATP-dependent chromatin remodeling by the Cockayne syndrome B DNA repair-transcription-coupling factor.

1 reference

7 January 2021

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

1 reference

7 January 2021

Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivity

1 reference

7 January 2021

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

1 reference

7 January 2021

Prenatal diagnosis of Cockayne syndrome type A based on the identification of two novel mutations in the ERCC8 gene

1 reference

7 January 2021

The role of CSA in the response to oxidative DNA damage in human cells

1 reference

7 January 2021

X-Ray Structures of the Sulfolobus solfataricus SWI2/SNF2 ATPase Core and Its Complex with DNA

1 reference

7 January 2021

Cockayne syndrome type II in a Druze isolate in Northern Israel in association with an insertion mutation in ERCC6.

1 reference

7 January 2021

CSB protein is (a direct target of HIF-1 and) a critical mediator of the hypoxic response

1 reference

7 January 2021

Cockayne syndrome A and B proteins differentially regulate recruitment of chromatin remodeling and repair factors to stalled RNA polymerase II in vivo

1 reference

7 January 2021

The current evidence for defective repair of oxidatively damaged DNA in Cockayne syndrome

1 reference

7 January 2021

Apparent late-onset Cockayne syndrome and interstitial deletion of the long arm of chromosome 10 (del(10)(q11.23q21.2))

1 reference

7 January 2021

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

1 reference

7 January 2021

CSA-dependent degradation of CSB by the ubiquitin-proteasome pathway establishes a link between complementation factors of the Cockayne syndrome

1 reference

7 January 2021

Helicase motifs: the engine that powers DNA unwinding

1 reference

7 January 2021

Adult-onset neurological degeneration in a patient with Cockayne syndrome and a null mutation in the CSB gene

1 reference

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

7 January 2021

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

1 reference

7 January 2021

A family of diverse Cul4-Ddb1-interacting proteins includes Cdt2, which is required for S phase destruction of the replication factor Cdt1

1 reference

7 January 2021

Prenatal diagnosis of the Cockayne syndrome: survey of 15 years experience

1 reference

7 January 2021

A novel splice site mutation in the Cockayne syndrome group A gene in two siblings with Cockayne syndrome

1 reference

7 January 2021

A kindred with Cockayne syndrome caused by multiple splicing variants of the CSA gene.

1 reference

7 January 2021

When transcription and repair meet: a complex system

1 reference

7 January 2021

Deletion of 5' sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndrome

1 reference

7 January 2021

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

1 reference

7 January 2021

Conformational changes of a Swi2/Snf2 ATPase during its mechano-chemical cycle

1 reference

7 January 2021

Cockayne syndrome group B cellular and biochemical functions

1 reference

7 January 2021

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

1 reference

7 January 2021

Confirmation of homozygosity for a single nucleotide substitution mutation in a Cockayne syndrome patient using monoallelic mutation analysis in somatic cell hybrids

1 reference

7 January 2021

Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene.

1 reference

7 January 2021

Phenotypic consequences of mutations in the conserved motifs of the putative helicase domain of the human Cockayne syndrome group B gene.

1 reference

7 January 2021

Cockayne syndrome: Review of 140 cases

1 reference

7 January 2021

A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage

1 reference

7 January 2021

Cockayne syndrome group B protein (CSB) plays a general role in chromatin maintenance and remodeling

1 reference

7 January 2021

An abundant evolutionarily conserved CSB-PiggyBac fusion protein expressed in Cockayne syndrome

1 reference

7 January 2021

Helicase Motif III in SecA is essential for coupling preprotein binding to translocation ATPase.

1 reference

7 January 2021

Cockayne syndrome B protein regulates the transcriptional program after UV irradiation

1 reference

7 January 2021

Three novel mutations responsible for Cockayne syndrome group A.

1 reference

7 January 2021

Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects

1 reference

7 January 2021

Functional TFIIH is required for UV-induced translocation of CSA to the nuclear matrix

1 reference

7 January 2021

Cockayne syndrome group B protein enhances elongation by RNA polymerase II

1 reference

7 January 2021

Host cell reactivation of plasmids containing oxidative DNA lesions is defective in Cockayne syndrome but normal in UV-sensitive syndrome fibroblasts

1 reference

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

7 January 2021

Structure and expression of the excision repair gene ERCC6, involved in the human disorder Cockayne's syndrome group B

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Neuropathology of Cockayne syndrome: Evidence for impaired development, premature aging, and neurodegeneration

1 reference

7 January 2021

Cockayne syndrome B protein stimulates apurinic endonuclease 1 activity and protects against agents that introduce base excision repair intermediates

1 reference

7 January 2021

Activation of p53 or loss of the Cockayne syndrome group B repair protein causes metaphase fragility of human U1, U2, and 5S genes

1 reference

7 January 2021

Predicted structures of two proteins involved in human diseases

1 reference

7 January 2021

Identifiers

DOI

10.1002/HUMU.21154

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19894250 AND SRC:MED&resulttype=core&format=json

11 February 2020

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