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 |
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 |
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
The human CSB gene, mutated in Cockayne's syndrome group B (partially defective in both repair and transcription) was previously cloned by virtue of its ability to correct the moderate UV sensitivity of the CHO mutant UV61.
|
8811084 |
1996 |
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 |
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 |
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 |
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 |
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
|
19894250 |
2010 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Two novel mutations in ERCC6 cause Cockayne syndrome B in a Chinese family.
|
28440418 |
2017 |
Cockayne Syndrome, Type II
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Structure and expression of the excision repair gene ERCC6, involved in the human disorder Cockayne's syndrome group B.
|
8382798 |
1993 |
Cockayne Syndrome, Type II
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
CSB-PGBD3 Mutations Cause Premature Ovarian Failure.
|
26218421 |
2015 |
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 |
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 |
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 |
GENOMICS_ENGLAND |
|
|
|
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 |