Condition: Cerebrooculofacioskeletal Syndrome 1
rs121917905
in
ERCC6
gene and
Cerebrooculofacioskeletal Syndrome 1
PMID 19894250
2010 Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
PMID 26620705
2016 The C-terminal Region and SUMOylation of Cockayne Syndrome Group B Protein Play Critical Roles in Transcription-coupled Nucleotide Excision Repair.
PMID 27004399
2016 Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.
PMID 25356239
2014 A new mutation in the CSB gene in a Chinese patient with mild Cockayne syndrome.
PMID 9443879
1998 Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.
PMID 27186691
2017 Ocular findings in a patient with Cockayne syndrome with two mutations in the ERCC6 gene.
PMID 26218421
2015 CSB-PGBD3 Mutations Cause Premature Ovarian Failure.
rs1198241866
in
ERCC6;PGBD3
gene and
Cerebrooculofacioskeletal Syndrome 1
PMID 11809892
2002 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.
PMID 19894250
2010 Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
PMID 18784753
2008 CSB protein is (a direct target of HIF-1 and) a critical mediator of the hypoxic response.
PMID 21143350
2011 Mutant Cockayne syndrome group B protein inhibits repair of DNA topoisomerase I-DNA covalent complex.
rs1554793270
in
PGBD3;ERCC6
gene and
Cerebrooculofacioskeletal Syndrome 1
PMID 19894250
2010 Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.