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Five of these SNPs acted as cis (show CISH Proteins)-eQTLs, being associated with the transcription of IREB2 (show IREB2 Proteins) (rs2568494, rs16969968, rs11634351, rs6495309), PSMA4 (show PSMA4 Proteins) (rs6495309) and ERCC1 (rs735482), out of 10,821 genes analyzed in lung. For these three genes, we obtained experimental evidence of differential allelic expression in lung tissue, pointing to the existence of in-cis (show CISH Proteins) genomic variants that regulate their transcription.
We found that patients with positive ERCC1 expression and deficient (d)MMR (show MRC1 Proteins) status had higher overall survival (OS) than those with either positive ERCC1 and pMMR, negative ERCC1 and dMMR, or negative ERCC1 expression and pMMR status (OS 79 vs. 69 vs. 66 vs. 61%, hazard ratio (HR) 0.90, 95% confidence interval (CI) 0.80-1.00; p = 0.043).
Gene expression study along with DNA sequence analysis show that different splicing isoforms of ERCC1 affect the expression of its overlapping genes CD3EAP (show CD3EAP Proteins) and PPP1R13L (show PPP1R13L Proteins).
common genetic variations in ERCC1/XPF (show ERCC4 Proteins) genes predispose to neuroblastoma (show ARHGEF16 Proteins) risk, which needs to be further validated by ongoing efforts.
ERCC1 rs3212986 CC genotype showed a protective effect against radiotherapy-induced acute reactions.
Our results indicated a link between ERCC1 rs3212986 and the onset of late gastrointestinal toxicity ..No association was found regarding the XRCC3 (show XRCC3 Proteins) rs861539 polymorphism and any clinical toxicity event
ERCC1 overexpression is an important phenotype that is associated with esophageal squamous cell carcinoma (ESCC) lymph node metastasis and advanced tumor clinical stages. ERCC1 expression may also inhibit ESCC cell apoptosis via regulating survivin expression, and ERCC1 and survivin overexpression are independent predictors of prognosis for ESCC patients who receive chemotherapy and/or radiotherapy.
ERCC1 expression might be a useful predictive marker in patients with locoregionally advanced nasopharyngeal carcinoma receiving cisplatin-based concurrent chemoradiotherapy
the present results indicate that the EGFR (show EGFR Proteins) mutation status and TS and ERCC1 expression can be used as the predictors of overall survival after subsequent second-line treatments for adenocarcinoma non-small-cell lung cancer
In conclusion, these findings identified no association between rs11615 and rs2276466 polymorphisms and Colorectal Cancer(CRC (show CALR Proteins)) susceptibility, but the data indicate that ERCC1 rs3212986 and rs2298881 polymorphisms may increase susceptibility to CRC (show CALR Proteins).
chronic treatment of Ercc1(-/) mice with the mitochondrial-targeted radical scavenger XJB-5-131 attenuated oxidative DNA damage, senescence and age-related pathology.
Dietary tryptophan restriction increased microbial diversity and made the gut (show GUSB Proteins) microbiota composition of old Ercc1(-/Delta7) mice more similar to that of young WT mice.
ERCC1-XPF (show ERCC4 Proteins) cooperates with CTCF (show CTCF Proteins) and cohesin to facilitate the developmental silencing of imprinted genes and that persistent DNA damage triggers chromatin changes that affect gene expression programs associated with NER (show NR1H2 Proteins) disorders.
we quantified the frequency of aneuploidy of three autosomes in the cerebral cortex and cerebellum of adult and developing brain of Bub1b (show BUB1B Proteins)(H/H) mice, which have a faulty mitotic checkpoint (show BUB3 Proteins), and Ercc1(-/Delta7) mice, defective in nucleotide excision repair and inter-strand crosslink repair. we found that Bub1b (show BUB1B Proteins)(H/H), but not Ercc1(-/Delta7) mice, have a significantly higher frequency of aneuploid nuclei relative to wild-t...
these results establish USP45 as a new regulator of XPF (show ERCC4 Proteins)-ERCC1 crucial for efficient DNA repair
ERCC1 is critical for protecting chondrocytes from catabolic stress and is associated with the pathophysiology of osteoarthritis.
SLX4 is a tumor suppressor, which activates XPF (show ERCC4 Proteins)-ERCC1 nuclease (show DCLRE1C Proteins) specificity in DNA crosslink repair.
ERCC1 is essential for melanoma growth and resistance to cisplatin.
Smad4 (show SMAD4 Proteins) loss-associated Snail (show SNAI1 Proteins) reduction compromises Ercc1-mediated DNA repair, contributing to increased UV-induced skin carcinogenesis.
analysis of accelerated loss of hearing and vision in the DNA-repair deficient Ercc1(delta/-) mouse
ERCC1 and XPF (show ERCC4 Proteins) protect short telomeres from homologous recombination.
These data support a model in which the interstrand crosslink repair-specific function of XPF-ERCC1 is dependent on recruitment, positioning and substrate recognition.
The product of this gene functions in the nucleotide excision repair pathway, and is required for the repair of DNA lesions such as those induced by UV light or formed by electrophilic compounds including cisplatin. The encoded protein forms a heterodimer with the XPF endonuclease (also known as ERCC4), and the heterodimeric endonuclease catalyzes the 5' incision in the process of excising the DNA lesion. The heterodimeric endonuclease is also involved in recombinational DNA repair and in the repair of inter-strand crosslinks. Mutations in this gene result in cerebrooculofacioskeletal syndrome, and polymorphisms that alter expression of this gene may play a role in carcinogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. The last exon of this gene overlaps with the CD3e molecule, epsilon associated protein gene on the opposite strand.
DNA excision repair protein ERCC-1
, excision repair 1
, excision repair cross-complementing 1
, excision repair protein
, excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)