Xeroderma Pigmentosum
|
0.370 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, RNA-Seq-based transcriptomic analysis indicated that expression levels of four core repair factors, xeroderma pigmentosum (XP) complementation group A (XPA), XPC, XPG, and XPF-ERCC1, are progressively up-regulated during differentiation, but not those of replication protein A (RPA) and transcription factor IIH (TFIIH).
|
30808711 |
2019 |
Xeroderma Pigmentosum
|
0.370 |
GeneticVariation
|
disease |
BEFREE |
We investigated the correlation between the response to chemotherapy in patients and excision repair cross-complimenta-ry group 1 gene (ERCC1) and xeroderma pigmentosum complemen-tation group F gene (XPF) polymorphisms and the effect of these polymorphisms on the clinical outcome of gastric cancer.
|
25222248 |
2014 |
Xeroderma Pigmentosum
|
0.370 |
Biomarker
|
disease |
BEFREE |
Excision repair cross-complementation group 1 (ERCC1) and xeroderma pigmentosum-F (XPF) in the nucleotide excision repair pathway have been effectively repairing DNA damage induced by chemotherapeutic agents.
|
24370899 |
2014 |
Xeroderma Pigmentosum
|
0.370 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.
|
23623389 |
2013 |
Xeroderma Pigmentosum
|
0.370 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure.
|
17273966 |
2007 |
Xeroderma Pigmentosum
|
0.370 |
GeneticVariation
|
disease |
BEFREE |
We analyzed 13 polymorphisms in seven DNA repair genes belonging to different repair pathways [X-ray repair cross-complementing group 1 (XRCC1): 26304C>T, 26651A>G, 28152A>G; xeroderma pigmentosum-D (XPD): 23591A>G, 35931A>C; excision repair complementing defective in Chinese hamster, group 1 (ERCC1): 19007C>T; XRCC3: 4541T>C, 17893A>G, 18067C>T; proliferating cell nuclear antigen (PCNA): 6084G>C; ERCC4: 30028C>T, 30147A>G; and XRCC2-31479A>G] in 317 incident bladder cancer patients and 317 controls.
|
16284380 |
2005 |
Xeroderma Pigmentosum
|
0.370 |
GeneticVariation
|
disease |
BEFREE |
Neither transfection nor microinjection of the cells with the human DNA repair gene ERCC1, which is known not to correct any complementation groups of XP or CS, failed to correct the defect of these cells, indicating that they do not belong to the rodent complementation group 1.
|
7539208 |
1995 |
Xeroderma Pigmentosum
|
0.370 |
Biomarker
|
disease |
BEFREE |
In the case of the remaining XP complementation groups (B, G, H and I), nuclear microinjection was used to introduce an ERCC-1 cDNA construct driven by an SV40 promoter into primary fibroblasts.
|
2918869 |
1989 |
Xeroderma Pigmentosum
|
0.370 |
GeneticVariation
|
disease |
BEFREE |
Two UV-sensitive CHO mutant lines, UV20 and UV41, which belong to different genetic complementation groups, were fused with fibroblasts of xeroderma pigmentosum in various complementation groups.
|
4000167 |
1985 |