Cerebrooculofacioskeletal Syndrome 1
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
ERCC6 founder mutation identified in Finnish patients with COFS syndrome.
|
20456449 |
2010 |
Cerebrooculofacioskeletal Syndrome 1
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
Clinically observed similarities between COFS syndrome and CS have been followed by discoveries of cases of COFS syndrome that are associated with mutations in the XPG and CSB genes.
|
11443545 |
2001 |
Cerebrooculofacioskeletal Syndrome 1
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
New diagnostic criteria for COFS syndrome are proposed, based on our findings and on the few genetically proven COFS cases from the literature.
|
18628313 |
2008 |
Cerebrooculofacioskeletal Syndrome 1
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
The identical mutation was detected in the CSB gene from both children with COFS syndrome and in both parents of one of the patients.
|
10739753 |
2000 |
Cerebrooculofacioskeletal Syndrome 1
|
0.740 |
GeneticVariation
|
disease |
CLINVAR |
Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.
|
9443879 |
1998 |
Cerebrooculofacioskeletal Syndrome 1
|
0.740 |
GeneticVariation
|
disease |
CLINVAR |
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
|
19894250 |
2010 |
Cerebrooculofacioskeletal Syndrome 1
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
CSB protein is (a direct target of HIF-1 and) a critical mediator of the hypoxic response.
|
18784753 |
2008 |
Cerebrooculofacioskeletal Syndrome 1
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Mutant Cockayne syndrome group B protein inhibits repair of DNA topoisomerase I-DNA covalent complex.
|
21143350 |
2011 |
Cerebrooculofacioskeletal Syndrome 1
|
0.740 |
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 |
Cerebrooculofacioskeletal Syndrome 1
|
0.740 |
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 |
Cerebrooculofacioskeletal Syndrome 1
|
0.740 |
GeneticVariation
|
disease |
CLINVAR |
A new mutation in the CSB gene in a Chinese patient with mild Cockayne syndrome.
|
25356239 |
2014 |
Cerebrooculofacioskeletal Syndrome 1
|
0.740 |
GeneticVariation
|
disease |
CLINVAR |
CSB-PGBD3 Mutations Cause Premature Ovarian Failure.
|
26218421 |
2015 |
Cerebrooculofacioskeletal Syndrome 1
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.
|
27004399 |
2016 |
Cerebrooculofacioskeletal Syndrome 1
|
0.740 |
GeneticVariation
|
disease |
CLINVAR |
Ocular findings in a patient with Cockayne syndrome with two mutations in the ERCC6 gene.
|
27186691 |
2017 |
Cerebrooculofacioskeletal Syndrome 1
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
|
19894250 |
2010 |
Cerebrooculofacioskeletal Syndrome 1
|
0.740 |
Biomarker
|
disease |
CTD_human |
|
|
|
Cerebrooculofacioskeletal Syndrome 1
|
0.740 |
GeneticVariation
|
disease |
UNIPROT |
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
|
19894250 |
2010 |
Cerebrooculofacioskeletal Syndrome 1
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Cerebrooculofacioskeletal Syndrome 1
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A new human photosensitive subject with a defect in the recovery of DNA synthesis after ultraviolet-light irradiation.
|
7264357 |
1981 |