Deletion of 5' sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndrome (Q41939477)

14 October 2017

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

1 reference

14 October 2017

8

1 reference

14 October 2017

Valérie Cormier-Daire

object named as

Valerie Cormier-Daire

4

0 references

author name string

Vincent Laugel

1

1 reference

14 October 2017

Cecile Dalloz

2

1 reference

14 October 2017

Anne Stary

3

1 reference

14 October 2017

Isabelle Desguerre

5

1 reference

14 October 2017

Michel Renouil

6

1 reference

14 October 2017

Alain Fourmaintraux

7

1 reference

14 October 2017

Jean-Marc Egly

9

1 reference

14 October 2017

Alain Sarasin

10

1 reference

14 October 2017

Helene Dollfus

11

1 reference

14 October 2017

9 January 2008

1 reference

European Journal of Human Genetics

14 October 2017

1 reference

14 October 2017

16

1 reference

14 October 2017

3

1 reference

14 October 2017

320-327

1 reference

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201991

14 October 2017

0 references

cites work

Cockayne syndrome: Review of 140 cases

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201991

DNA repair-deficient diseases, xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201991

When transcription and repair meet: a complex system

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201991

New insights for understanding the transcription-coupled repair pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201991

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201991

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 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201991

Cockayne syndrome B protein regulates the transcriptional program after UV irradiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201991

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201991

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201991

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201991

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201991

A new UV-sensitive syndrome not belonging to any complementation groups of xeroderma pigmentosum or Cockayne syndrome: siblings showing biochemical characteristics of Cockayne syndrome without typical clinical manifestations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201991

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201991

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201991

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201991

21 January 2018

UV-sensitive syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201991

Ultraviolet-sensitive syndrome cells are defective in transcription-coupled repair of cyclobutane pyrimidine dimers

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201991

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201991

Early postnatal ataxia and abnormal cerebellar development in mice lacking Xeroderma pigmentosum Group A and Cockayne syndrome Group B DNA repair genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201991

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201991

inferred from DOI database lookup

7 January 2021

based on heuristic

A New Human Photosensitive Subject with a Defect in the Recovery of DNA Synthesis after Ultraviolet-light Irradiation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201991

inferred from DOI database lookup

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201991

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/SJ.EJHG.5201991

1 reference

Dimensions Publication ID

14 October 2017

0 references

1 reference