Condition: De Sanctis-Cacchione syndrome
rs121917901 in
ERCC6 gene and
De Sanctis-Cacchione syndrome
PMID 19894250 2010 Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
PMID 27004399 2016 Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.
PMID 18628313 2008 Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation.
PMID 21228398 2011 Carrier testing for severe childhood recessive diseases by next-generation sequencing.
PMID 27356891 2016 Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes.
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 29572252 2018 Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome.
PMID 23311583 2013 A possible cranio-oro-facial phenotype in Cockayne syndrome.
PMID 28440418 2017 Two novel mutations in ERCC6 cause Cockayne syndrome B in a Chinese family.
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 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
De Sanctis-Cacchione syndrome
PMID 19894250 2010 Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
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 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
De Sanctis-Cacchione syndrome
PMID 19894250 2010 Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.