ERCC4 Antibody

1. For 11985 A>G polymorphism, lung cancer subjects treated with irinotecan cisplatin/carboplatin regimen having heterozygous genotype (AG) was associated with high mortality risk (p = 0.0001). 673 C>T polymorphism was associated with increased lung cancer risk. PMID: 29741112
2. Our results confirm that biallelic ERCC4 mutations cause a cerebellar ataxia-dominant phenotype with mild cutaneous symptoms, possibly accounting for a high proportion of the genetic causes of ARCA in Japan, where XP-F is prevalent. PMID: 29403087
3. silenced XPF significantly increased the sensitivity and survival following treatment with cisplatin in xenograft mice bearing renal cell tumor. PMID: 27542841
4. C allele of the 30028T/C polymorphism significantly increased the risk of ischemic stroke. PMID: 26888738
5. Polymorphisms in XPF gene is associated with gastrointestinal stromal tumours. PMID: 27460091
6. inherited abnormalities in DNA repair pathway related to XPF 30028C and TP53 Arg72Pro polymorphisms act as prognostic factors for progression free survival and overall survival of cutaneous melanoma patients. PMID: 26427666
7. Based on these results, we conclude that the XPF gene polymorphism Ser835Ser may be associated with a decreased risk of colorectal cancer. PMID: 26146099
8. Polymorphisms of ERCC4 gene are associated with HPV-positive cervical cancer. PMID: 25812040
9. Helicobacter Pylori introduces double-stranded DNA breaks by the nucleotide excision repair endonucleases XPF and XPG, which, together with RelA, are recruited to chromatin in a highly coordinated, type IV secretion system-dependent manner. PMID: 26411687
10. SLX4 (FANCP) and XPF (FANCQ) proteins interact with each other and play a vital role in the Fanconi anemia (FA) DNA repair pathway. PMID: 26453996
11. Mus81-deficient cells fail to recover from exposure to low doses of replication inhibitors and cell viability is dependent on the XPF endonuclease. PMID: 25879486
12. Genotypes of ERCC1 (rs11615, rs3212986 and rs2298881) and XPF (rs2276465 and rs6498486) were performed by Polymerase Chain Reaction Restriction Fragment Length Polymorphism (PCR-RFLP) assay PMID: 26045829
13. XPF and XPC expression may be a potential predictive factor for bladder cancer, and smoking can not only influence the recurrence of bladder cancer as a single factor but also aggravate the results of the XPF defect and XPC defect. PMID: 25535740
14. Low XPF expression in head and neck squamous cell carcinoma patients is associated with better response to induction chemoradiotherapy, while high XPF expression correlates with a worse response. PMID: 25019640
15. ERCC4 is located on human chromosome 16p13.12 and consists of 11 exons spanning about 28.2 kb, the broad tissue expression pattern of ERCC4 is similar to that of ERCC1; ERCC1 and ERCC4 genes encode the two subunits of the ERCC1-XPF nuclease. This enzyme plays an important role in repair of DNA damage and in maintaining genomic stability. [Review] PMID: 26074087
16. This meta-analysis suggests that the 3 common XPF polymorphisms rs744154, rs6498486, and rs1799801 are not associated with gastric cancer risk. PMID: 25342505
17. ERCC4 rs1800067 polymorphism is not associated with cancer risk. PMID: 25292041
18. Our study suggests that the rs1800067 genetic variant of XPF functions in the development of glioma. PMID: 24938470
19. genetic variants in XPF might contribute to the susceptibility to ESCC PMID: 24709955
20. The contribution of ERCC4/FANCQ coding mutations to hereditary breast cancer in Central and Eastern Europe is likely to be small. PMID: 24465539
21. no significant associations between XPF polymorphisms in rs2276466 or rs6498486 and risk of colorectal cancer in a Chinese population PMID: 24861646
22. The C2169A nonsense mutation in XPF protein is closely associated with gastric carcinogenesis in the Chinese population.The XPF mutation is largely monoallelic indicating the haplo-insufficiency of XPF. PMID: 24412486
23. the frequency of Spanish individuals heterozygous for pathogenic mutations in the ERCC4 gene is approximately 0.3%, and it does not differ between familial breast/ovarian cancer patients and healthy controls. PMID: 24027083
24. The rs1800067 G and rs2276466 G allele frequencies in Xeroderma pigmentosum complementation group f polymorphisms influence risk of glioma. PMID: 23991957
25. Overexpression of XPF decreased drug sensitivity in malignant melanoma. PMID: 23982883
26. ERCC4 rs1800124 and MBD4 rs10342 non-synonymous single nucleotide polymorphism variants were associated with DNA repair capacity. PMID: 24004570
27. Polymorphisms in rs180067, rs1799801, rs2276466 and rs744154 in XPF is associated with gastric cancer. PMID: 23679285
28. a significantly decreased risk of gastric cancer associated with the ERCC4 rs744154 GC/CC genotypes in a Chinese population PMID: 23537993
29. Frameshift mutation XP11BE not only divests the XPF-interaction motif impairing DNA repair, but also reduces XPB solubility, leading to a lower intracellular level of transcription factor TFIIH and deficient transcription. PMID: 23385459
30. Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia. PMID: 23623386
31. The ERCC4 tagSNPs, rs6498486 and rs254942, may play protective roles in gastric carcinogenesis, especially in the development of atrophic gastritis. PMID: 23415627
32. two SNPs (rs2276466 and rs3136038) in ERCC4 may be functional and contribute to SCCHN susceptibility PMID: 22848636
33. XPG endonuclease promotes DNA breaks and DNA demethylation at promoters allowing the recruitment of CTCF and gene looping, which is further stabilized by XPF. PMID: 22771116
34. This meta-analysis suggests a lack of statistical evidence for the association between the four XPF SNPs and overall risk of cancers. PMID: 22768293
35. There is no evidence that G1244A and T2505 single nucleotide polymorphisms in XPF affect expression of ERCC1. PMID: 22609620
36. XPF Arg415Gln may be a low-penetrant risk factor in the Caucasian ethnicity for developing breast cancer. PMID: 21424776
37. these results suggest that the interaction between XPF and Eg5 plays a role in mitosis and DNA repair and offer new insights into the pathogenesis of XP-F and XFE. PMID: 22353549
38. Data show that high XPF expression correlated with early time to progression both by univariate and multivariate analysis. PMID: 21737503
39. The gene polymorphism at ERCC4 gene had no effects on the DNA damage of lymphocytes in coke oven workers. PMID: 17945097
40. results indicated that Arg399Gln polymorphism of XRCC1 gene and Arg415Gln polymorphism of ERCC4 gene may not be associated with smoking- and drinking-related larynx cancer in Polish population PMID: 21423097
41. The association of MPM with DNA repair genes support the hypothesis that an increased susceptibility to DNA damage may favour asbestos carcinogenicity. PMID: 21277872
42. squamous cell carcinoma metastases of the head and neck show increased levels of nucleotide excision repair protein XPF in vivo that correlate with increased chemoresistance ex vivo PMID: 20372803
43. Studies indicate that a marginally statistically significant association was found for XRCC1 codon 399, XPD Asp312Asn and XRCC1 codon 194 variants and head and neck cancer. PMID: 20429839
44. XPF promoter -357A>C polymorphism may regulate the expression of XPF and thereby contribute to susceptibility to and prognosis of bladder cancer. PMID: 20062074
45. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) PMID: 20201926
46. XPF protein has important roles in psoralen ICL-mediated DNA repair and mutagenesis. PMID: 14728600
47. the ternary complex of hRad52 and XPF/ERCC1 is the active species that processes recombination intermediates generated during the repair of DNA double strand breaks and in homology-dependent gene targeting events PMID: 14734547
48. We show that RAD1 is an essential gene for sustained cell proliferation and that loss of Rad1 causes destabilization of Rad9 and Hus1 and consequently disintegration of the sliding-clamp complex. PMID: 15184880
49. XPF is required to form gamma-H2AX and likely double strand breaks in response to interstrand crosslinks in human cells PMID: 16678501
50. A SNP (rs744154) in intron 1 was associated with recessive protection from breast cancer after adjustment for multiple testing in stage 2. It is in the first intron, in a region that is highly conserved across species, and could be causal. PMID: 17018596

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HGNC: 3436

OMIM: 133520

KEGG: hsa:2072

STRING: 9606.ENSP00000310520

UniGene: Hs.567265