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We demonstrated an association between six previously published single nucleotide polymorphisms (rs15869 [ BRCA2 (zeige BRCA2 Proteine)], rs1805389 [ LIG4 (zeige LIG4 Proteine)], rs8079544 [ TP53 (zeige TP53 Proteine)], rs25489 [ XRCC1 (zeige XRCC1 Proteine)], rs1673041 [ POLD1 (zeige POLD1 Proteine)], and rs11615 [ ERCC1]) and subsequent CNS tumors in survivors of childhood cancer treated by radiation therapy.
Genetic polymorphism in ERCC1 gene is associated with response to chemotherapy in osteosarcoma.
ERCC1 was not detectable in the nucleus of the XPF knockout cells indicating the necessity of a functional XPF/ERCC1 heterodimer to allow ERCC1 to enter the nucleus.
There is no association between the ERCC1 C19007T polymorphism and platinum-based chemotherapy effectiveness in ovarian cancer. The polymorphism did not have a significant impact on platinum-based chemotherapy in non-responders and responders.
The T allele at ERCC1 rs11615 may interact with smoking and alcohol drinking status to determine personal susceptibility to colorectal cancer.
Strikingly, the addition of the single-stranded DNA (ssDNA)-binding replication protein A (RPA) selectively restores XPF-ERCC1 endonuclease activity on this structure. The 5'-3' exonuclease SNM1A can load from the XPF-ERCC1-RPA-induced incisions and digest past the crosslink to quantitatively complete the unhooking reaction.
ERCC1 mutation along with BRCA1 mutation confers chemoresistance in breast cancer.
The authors have discovered a major sub-pathway of conventional long-patch base excision repair that involves formation of a 9-nucleotide gap 5' to the lesion. This new sub-pathway is mediated by RECQ1 (zeige RECQL Proteine) DNA helicase and ERCC1-XPF endonuclease in cooperation with PARP1 poly(ADP-ribose) polymerase (zeige PARP1 Proteine) and RPA (zeige RPA1 Proteine).
Based on structural models, NMR titrations, DNA-binding studies, site-directed mutagenesis, charge distribution, and sequence conservation, we propose that the HhH domain of ERCC1 binds to dsDNA upstream of the damage, and XPF binds to the non-damaged strand within a repair bubble
Meta-analysis indicated that the ERCC1 rs3212986 polymorphism and 2 polymorphisms in ERCC2 (zeige ERCC2 Proteine) gene (rs13181 and rs1799793) contributed to the susceptibility of glioma.
Dietary tryptophan restriction increased microbial diversity and made the gut (zeige GUSB Proteine) microbiota composition of old Ercc1(-/Delta7) mice more similar to that of young WT mice.
ERCC1-XPF cooperates with CTCF (zeige CTCF Proteine) 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 (zeige NR1H2 Proteine) disorders.
we quantified the frequency of aneuploidy of three autosomes in the cerebral cortex and cerebellum of adult and developing brain of Bub1b (zeige BUB1B Proteine)(H/H) mice, which have a faulty mitotic checkpoint (zeige BUB3 Proteine), and Ercc1(-/Delta7) mice, defective in nucleotide excision repair and inter-strand crosslink repair. we found that Bub1b (zeige BUB1B Proteine)(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-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-ERCC1 nuclease (zeige DCLRE1C Proteine) specificity in DNA crosslink repair.
ERCC1 is essential for melanoma growth and resistance to cisplatin.
Smad4 (zeige SMAD4 Proteine) loss-associated Snail (zeige SNAI1 Proteine) 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
This study demonistrated that the ERCC1 deficiency-associated downregulation of the cholesterol biosynthesis pathway is at least in part due to lowered expression of its master transcription factor SREBF2 (zeige SREBF2 Proteine)
ERCC1 and XPF 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)