Cockayne Syndrome, Type II
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Cockayne Syndrome, Type II
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Cockayne Syndrome, Type II
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Cockayne syndrome type II in a Druze isolate in Northern Israel in association with an insertion mutation in ERCC6.
|
18446857 |
2008 |
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 |
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 |
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 |
GENOMICS_ENGLAND |
A new human photosensitive subject with a defect in the recovery of DNA synthesis after ultraviolet-light irradiation.
|
7264357 |
1981 |
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 |
GeneticVariation
|
disease |
UNIPROT |
A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.
|
10447254 |
1999 |
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 |
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 |
Cockayne syndrome group B protein regulates DNA double-strand break repair and checkpoint activation.
|
25820262 |
2015 |
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 |
Cockayne Syndrome, Type II
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
CSB protein is (a direct target of HIF-1 and) a critical mediator of the hypoxic response.
|
18784753 |
2008 |
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 |
Differential requirement for the ATPase domain of the Cockayne syndrome group B gene in the processing of UV-induced DNA damage and 8-oxoguanine lesions in human cells.
|
11809892 |
2002 |
Cockayne Syndrome, Type II
|
0.800 |
Biomarker
|
disease |
BEFREE |
DNA was extracted from blood samples and 15 common nonsynonymous SNPs in seven-nucleotide excision repair genes [XPC, RAD23B (hHR23B), CSB (ERCC6), XPD (ERCC2), CCNH, XPF (ERCC4), and XPG (ERCC5)] were genotyped.
|
16492920 |
2006 |
Cockayne Syndrome, Type II
|
0.800 |
Biomarker
|
disease |
CTD_human |
Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum.
|
10767341 |
2000 |
Cockayne Syndrome, Type II
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Intracranial calcifications in cerebro-oculo-facio-skeletal (COFS) syndrome.
|
7063265 |
1982 |
Cockayne Syndrome, Type II
|
0.800 |
Biomarker
|
disease |
CTD_human |
Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene.
|
10739753 |
2000 |
Cockayne Syndrome, Type II
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.
|
9443879 |
1998 |
Cockayne Syndrome, Type II
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.
|
9443879 |
1998 |
Cockayne Syndrome, Type II
|
0.800 |
Biomarker
|
disease |
CTD_human |
Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.
|
9443879 |
1998 |
Cockayne Syndrome, Type II
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.
|
9443879 |
1998 |
Cockayne Syndrome, Type II
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Molecular genetic analyses in the family established linkage to ERCC6, the gene responsible for Cockayne syndrome type B, confirming the clinical diagnosis.
|
16900932 |
2006 |