Cockayne Syndrome, Type II
|
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 |
Cockayne Syndrome, Type II
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Ocular findings in a patient with Cockayne syndrome with two mutations in the ERCC6 gene.
|
27186691 |
2017 |
Cockayne Syndrome, Type II
|
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 |
Cockayne Syndrome, Type II
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
ATM and CDK2 control chromatin remodeler CSB to inhibit RIF1 in DSB repair pathway choice.
|
29203878 |
2017 |
Cockayne Syndrome, Type II
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Two novel mutations in ERCC6 cause Cockayne syndrome B in a Chinese family.
|
28440418 |
2017 |
Cockayne Syndrome, Type II
|
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 |
Cockayne Syndrome, Type II
|
0.800 |
Biomarker
|
disease |
CTD_human |
Pharmacological Bypass of Cockayne Syndrome B Function in Neuronal Differentiation.
|
26972010 |
2016 |
Cockayne Syndrome, Type II
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.
|
27004399 |
2016 |
Cockayne Syndrome, Type II
|
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 |
Cockayne Syndrome, Type II
|
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 |
Cockayne Syndrome, Type II
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Cockayne syndrome group B protein regulates DNA double-strand break repair and checkpoint activation.
|
25820262 |
2015 |
Cockayne Syndrome, Type II
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
CSB-PGBD3 Mutations Cause Premature Ovarian Failure.
|
26218421 |
2015 |
Cockayne Syndrome, Type II
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
A new mutation in the CSB gene in a Chinese patient with mild Cockayne syndrome.
|
25356239 |
2014 |
Cockayne Syndrome, Type II
|
0.800 |
Biomarker
|
disease |
CTD_human |
A high-fat diet and NAD(+) activate Sirt1 to rescue premature aging in cockayne syndrome.
|
25440059 |
2014 |
Cockayne Syndrome, Type II
|
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 |
Cockayne Syndrome, Type II
|
0.800 |
Biomarker
|
disease |
CTD_human |
Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair.
|
22466612 |
2012 |
Cockayne Syndrome, Type II
|
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 |
Cockayne Syndrome, Type II
|
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 |
Cockayne Syndrome, Type II
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutant Cockayne syndrome group B protein inhibits repair of DNA topoisomerase I-DNA covalent complex.
|
21143350 |
2011 |
Cockayne Syndrome, Type II
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
|
19894250 |
2010 |
Cockayne Syndrome, Type II
|
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 |
Cockayne Syndrome, Type II
|
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 |
Cockayne Syndrome, Type II
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
|
19894250 |
2010 |
Cockayne Syndrome, Type II
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
|
19894250 |
2010 |
Cockayne Syndrome, Type II
|
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 |