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Pathogenic nucleotide variant NG_009289.1(NM_000082.3):c.173+1119G>C was identified in two siblings with severe but long-term survival Cockayne syndrome.
A complex intragenic rearrangement of ERCC8 in Chinese siblings with Cockayne syndrome has been reported.
ERCC6 rs1917799, ERCC8 rs158572 and rs158916 demonstrated pairwise epistatic interactions to associate with chronic atrophic gastritis and gastric cancer risk. The ERCC6 rs1917799-ERCC8 rs158572 pair significantly influence ERCC6 and ERCC6-ERCC8 expression.
Loss of Cockayne syndrome group A protein (CSA) or Cockayne syndrome group B protein (CSB) leads to polymerase stalling at non-B DNA in a neuroblastoma cell line, in particular at G-quadruplex structures.
The role of CSA in oxidative stress
Although the absence of CSA had no effect on CSB recruitment, CSA itself localized at sites of interstrand crosslinks, double-strand breaks and monoadducts but not at oxidative DNA lesions.
Our findings suggested that ERCC8 rs158572 and rs158916, alone or together with environmental factors, might be associated with gastric cancer and atrophic gastritis susceptibility.
A novel function of Cockayne syndrome A protein as transcription factor of RNA polymerase I in the nucleolus is shown.
Mitochondrial CSA and CSB: protein interactions and protection from ageing associated DNA mutations.
The role of CSA and CSB protein in the oxidative stress response.
The role of CSA protein in TC-NER is described in this review
The review focuses on the participation of the CSB and CSA proteins in many different protein interactions and complexes, and how these interactions inform us about pathways that are defective in the disease.
KIAA1530 protein is recruited by Cockayne syndrome complementation group protein A (CSA) to participate in transcription-coupled repair (TCR).
CSA and CSB are identified as the key elements of a regulatory mechanism that equilibrate beneficial and detrimental effects of p53 activity upon cellular stress.
crystals of CSA-DDB1 had unit-cell parameters a = b = 142.03, c = 250.19 A and diffracted to 2.9 A resolution on beamline ID14-1
Studies indicate the modular architecture of DDB1-CUL4 in complex with DDB2, CSA and CDT2 in DNA repair of UV-induced DNA lesions.
High carriers frequency of an apparently ancient founder mutation p.Tyr322X in the ERCC8 gene responsible for Cockayne syndrome among Christian Arabs in northern Israel is reported.
role in protect from aging- and stress-induced mtDNA mutations and apoptosis-mediated loss of subcutaneous fat, a hallmark of aging
The 45 published mutations in CSA and CSB to date and 43 new mutations in these genes together with the corresponding clinical data, are reported.
We found that CSA protein is rapidly translocated to the nuclear matrix after UV irradiation
This study demonistrated that Cockayne syndrome group A deficiencies predispose to hearing loss and cochlear hair cell degeneration in mice.
MtDNA mutations are highly increased in cells from subcutaneous fat of aged Csa(-/-) mice
difference in oxidative DNA damage sensitivity between CSA- and CSB-deficient cell lines and mice
This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes.
DNA excision repair protein ERCC-8
, Cockayne syndrome 1 protein
, Cockayne syndrome WD-repeat protein CSA
, cockayne syndrome WD repeat protein CSA
, Cockayne syndrome 1 (classical)
, excision repaiross-complementing rodent repair deficiency, complementation group 8
, Cockayne syndrome 1 homolog
, cockayne syndrome WD repeat protein CSA homolog