×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.800
Biomarker
disease
BEFREE
Cockayne syndrome group B (CSB, also known as ERCC6 ) protein is involved in many DNA repair processes and essential for transcription-coupled repair (TCR).
30753618
2019
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.800
GeneticVariation
disease
CLINVAR
Ocular findings in a patient with Cockayne syndrome with two mutations in the ERCC6 gene.
27186691
2017
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.800
Biomarker
disease
BEFREE
Cockayne syndrome group B (CSB, also known as ERCC6 ) protein in humans (or its yeast orthologues, Rad26 in Saccharomyces cerevisiae and Rhp26 in Schizosaccharomyces pombe) is among the first proteins to be recruited to the lesion-arrested Pol II during the initiation of eukaryotic TCR.
29168508
2017
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.800
GeneticVariation
disease
UNIPROT
ATM and CDK2 control chromatin remodeler CSB to inhibit RIF1 in DSB repair pathway choice.
29203878
2017
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.800
GeneticVariation
disease
BEFREE
Two novel mutations in ERCC6 cause Cockayne syndrome B in a Chinese family.
28440418
2017
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.800
Biomarker
disease
GENOMICS_ENGLAND
Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome.
26749132
2016
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.800
Biomarker
disease
CTD_human
Pharmacological Bypass of Cockayne Syndrome B Function in Neuronal Differentiation.
26972010
2016
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.800
CausalMutation
disease
CLINVAR
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.
27004399
2016
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.800
GeneticVariation
disease
CLINVAR
The C-terminal Region and SUMOylation of Cockayne Syndrome Group B Protein Play Critical Roles in Transcription-coupled Nucleotide Excision Repair.
26620705
2016
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.800
Biomarker
disease
BEFREE
The mutated gene responsible for this syndrome has been identified as usually either CSA (CKN1, ERCC8) or CSB (ERCC6 ).
26173784
2015
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.800
GeneticVariation
disease
UNIPROT
Cockayne syndrome group B protein regulates DNA double-strand break repair and checkpoint activation.
25820262
2015
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.800
GeneticVariation
disease
CLINVAR
CSB-PGBD3 Mutations Cause Premature Ovarian Failure.
26218421
2015
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.800
GeneticVariation
disease
CLINVAR
A new mutation in the CSB gene in a Chinese patient with mild Cockayne syndrome.
25356239
2014
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.800
Biomarker
disease
CTD_human
A high-fat diet and NAD(+) activate Sirt1 to rescue premature aging in cockayne syndrome.
25440059
2014
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.800
Biomarker
disease
CTD_human
Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair.
22466610
2012
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.800
Biomarker
disease
CTD_human
Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair.
22466612
2012
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.800
AlteredExpression
disease
BEFREE
We conclude that the CSB-PGBD3 fusion protein substantially reshapes the transcriptome in CS patient CS1AN and that continued expression of the CSB-PGBD3 fusion protein in the absence of functional CSB may affect the clinical presentation of CS patients by directly altering the transcriptional program.
23028371
2012
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.800
Biomarker
disease
BEFREE
The conserved Cockayne syndrome B -piggyBac fusion protein (CSB-PGBD3 ) affects DNA repair and induces both interferon-like and innate antiviral responses in CSB -null cells.
22483866
2012
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.800
CausalMutation
disease
CLINVAR
Mutant Cockayne syndrome group B protein inhibits repair of DNA topoisomerase I-DNA covalent complex.
21143350
2011
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.800
GeneticVariation
disease
CLINVAR
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
19894250
2010
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.800
GeneticVariation
disease
BEFREE
Two living and one of the deceased patients were all shown to possess a novel homozygous mutation in the ERCC6 [Cockayne syndrome B (CSB )] gene, thereby confirming the diagnosis on molecular genetic level even for the earlier published cases.
20456449
2010
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.800
Biomarker
disease
BEFREE
Cells expressing UBD-less CSB (CSB(del) ) have phenotypes similar to those of cells lacking CSB , but these can be suppressed by appending a heterologous UBD, so ubiquitin binding is essential for CSB function.
20541997
2010
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.800
GeneticVariation
disease
UNIPROT
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
19894250
2010
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.800
CausalMutation
disease
CLINVAR
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
19894250
2010
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.800
GeneticVariation
disease
BEFREE
Complementation assays have defined Cockayne syndrome group A (CSA) and Cockayne syndrome group B (CSB), caused by mutations in ERCC8 and ERCC6 .
19309286
2009