|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
1.000 |
Biomarker
|
disease |
BEFREE |
Xeroderma pigmentosum, complementation group C (XPC) is an accessory recognition gene involved in the nucleotide excision repair (NER) pathway, which is activated during the initial DNA damage recognition stage.
|
30628719 |
2019 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
1.000 |
Biomarker
|
disease |
BEFREE |
Recessive dystrophic epidermolysis bullosa (RDEB), Kindler syndrome (KS) and xeroderma pigmentosum complementation group C (XPC) are three genodermatoses with high predisposition to cancer development.
|
30693469 |
2019 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Objectives In the present study, we examined available articles from online databases to comprehensively investigate the effect of the XPC (xeroderma pigmentosum complementation group C) rs2228000 polymorphism on the risk of different types of clinical cancer.
|
31710080 |
2019 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Characteristics of Xeroderma Pigmentosum in Japan: Lessons From Two Clinical Surveys and Measures for Patient Care.
|
30565713 |
2019 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The present study has genotyped 334 subjects from North Indian population for xeroderma pigmentosum complementation Group C (XPC) rs2228001A>C, XPC rs77907221 polyadenylate (PAT) deletion/insertion (D/I), xeroderma pigmentosum complementation Group D - rs13181A>C, and xeroderma pigmentosum complementation Type G rs17655 G>C polymorphisms with polymerase chain reaction (PCR)-restriction-fragment length polymorphism or allele-specific PCR methods.
|
29893334 |
2018 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mechanistically, TIE-1 up-regulates the nucleotide excision repair (NER) system mediated by xeroderma pigmentosum complementation group C (XPC), thereby leading to decreased susceptibility to cisplatin-induced cell death without affecting cisplatin uptake and excretion.
|
30181600 |
2018 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
XPC is an RNA polymerase II cofactor recruiting ATAC to promoters by interacting with E2F1.
|
29973595 |
2018 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
1.000 |
Biomarker
|
disease |
BEFREE |
In A549 cells, cisplatin exposure led to a significantly higher expression of genes coding for proteins mediating G2/M arrest and apoptosis (mouse double minute 2 homolog (MDM2), xeroderma pigmentosum complementation group C (XPC), stress inducible protein (SIP) and p21) compared to resistant cells.
|
28746345 |
2017 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Clinical and molecular epidemiological study of xeroderma pigmentosum in China: A case series of 19 patients.
|
27607234 |
2017 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
1.000 |
Biomarker
|
disease |
BEFREE |
For example, the damaged DNA-binding protein Radiation sensitive 4 (Rad4) in <i>Saccharomyces cerevisiae</i> is homologous to the mammalian NER protein Xeroderma Pigmentosum complementation group C (XPC).
|
29283431 |
2017 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
1.000 |
Biomarker
|
disease |
BEFREE |
Here we show that ubiquitin-specific peptidase 11 (USP11) positively regulates NER by deubiquitinating xeroderma pigmentosum complementation group C (XPC) and promoting its retention at the DNA damage sites.
|
29228550 |
2017 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A unique chromosomal in-frame deletion identified among seven XP-C patients.
|
27387384 |
2016 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.
|
26884178 |
2016 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Diagnosis of Xeroderma Pigmentosum Groups A and C by Detection of Two Prevalent Mutations in West Algerian Population: A Rapid Genotyping Tool for the Frequent XPC Mutation c.1643_1644delTG.
|
27413738 |
2016 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
1.000 |
Biomarker
|
disease |
BEFREE |
Xeroderma pigmentosum complementation group C (XPC) is involved in the damage recognition step during nucleotide excision repair.
|
26745975 |
2016 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
1.000 |
Biomarker
|
disease |
BEFREE |
Attenuated expression of the DNA damage response protein Xeroderma Pigmentosum complementation group C (XPC) has been described in bladder cancer.
|
25927440 |
2015 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genotype-phenotype correlation of xeroderma pigmentosum in a Chinese Han population.
|
25256075 |
2015 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
1.000 |
Biomarker
|
disease |
BEFREE |
The current study aims to test the hypothesis that eIF3a may affect the drug response and prognosis of ovarian cancer patients receiving platinum-based chemotherapy by regulating xeroderma pigmentosum complementation group C (XPC) and p27(Kip1).
|
26213845 |
2015 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Clinical profile and mutation analysis of xeroderma pigmentosum in Indian patients.
|
25566891 |
2015 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Atypical Clinical Presentation of Xeroderma Pigmentosum in a Patient Harboring a Novel Missense Mutation in the XPC Gene: The Importance of Clinical Suspicion.
|
26278556 |
2015 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We show that drug-induced resistance is a result of p53-dependent upregulation of the nucleotide excision repair (NER) genes xeroderma pigmentosum complementation group C (XPC) and damaged DNA-binding protein 2 (DDB2), which stimulate the repair of DNA interstrand cross-links (ICLs) arising from O(6)-chloroethylguanine.
|
23604128 |
2014 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Clinical utility gene card for: Xeroderma pigmentosum.
|
24105368 |
2014 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons.
|
24218596 |
2013 |