Condition: Cockayne Syndrome, Type II


rs1287286877 in ERCC6 gene and Cockayne Syndrome, Type II PMID 19894250 2010 Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

PMID 10447254 1999 A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.

PMID 25820262 2015 Cockayne syndrome group B protein regulates DNA double-strand break repair and checkpoint activation.

PMID 9443879 1998 Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.

PMID 29203878 2017 ATM and CDK2 control chromatin remodeler CSB to inhibit RIF1 in DSB repair pathway choice.

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 26218421 2015 CSB-PGBD3 Mutations Cause Premature Ovarian Failure.

PMID 27186691 2017 Ocular findings in a patient with Cockayne syndrome with two mutations in the ERCC6 gene.

rs1198241866 in ERCC6;PGBD3 gene and Cockayne Syndrome, Type II 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 21143350 2011 Mutant Cockayne syndrome group B protein inhibits repair of DNA topoisomerase I-DNA covalent complex.

PMID 18784753 2008 CSB protein is (a direct target of HIF-1 and) a critical mediator of the hypoxic response.

rs1554793270 in PGBD3;ERCC6 gene and Cockayne Syndrome, Type II PMID 19894250 2010 Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.