Xeroderma Pigmentosum
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
DNA sequencing of XPC gene revealed a founder homozygous splice site mutation (c.2251-1G>C) in patients from six families (A-F) and a homozygous nonsense mutation (c.1399C>T; p.Gln467*) in patients of family G. This is the first report of XPC mutations, underlying XP phenotype, in Pakistani population.
|
29569758 |
2019 |
Xeroderma Pigmentosum
|
0.700 |
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
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Fifteen of 17 had the same p.R415X XPC mutation, which seems very specific of XP in Nepal, suggesting a founder effect.
|
29178624 |
2018 |
Xeroderma Pigmentosum
|
0.700 |
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
|
0.700 |
Biomarker
|
disease |
BEFREE |
The conformational energy landscape-based mechanistic insight into RAD4-mediated base extrusion provided here may serve as a useful baseline to understand the molecular basis of xeroderma pigmentosum C (XPC)-mediated DNA damage repair in humans.
|
29474070 |
2018 |
Xeroderma Pigmentosum
|
0.700 |
Biomarker
|
disease |
BEFREE |
Xeroderma pigmentosum (XP) patients who lack the main damage recognition protein for global genome repair (GGR), XPC, have greatly increased skin cancer rates and elevated mutation frequencies originating from unrepaired ultraviolet photoproducts in the nontranscribed regions of the genome and in nontranscribed strands of expressed genes.
|
28846868 |
2017 |
Xeroderma Pigmentosum
|
0.700 |
Biomarker
|
disease |
BEFREE |
Within the complex, XPC, a product of Xeroderma pigmentosum C, recognizes and interacts with the unpaired bases in the undamaged DNA strand, while RAD23B stabilizes XPC.
|
28473198 |
2017 |
Xeroderma Pigmentosum
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Xeroderma pigmentosum C (XPC) protein initiates the global genomic subpathway of nucleotide excision repair (GG-NER) for removal of UV-induced direct photolesions from genomic DNA.
|
28760956 |
2017 |
Xeroderma Pigmentosum
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
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
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.
|
26884178 |
2016 |
Xeroderma Pigmentosum
|
0.700 |
Biomarker
|
disease |
BEFREE |
Finally, XPC appears to be the major disease-causing gene concerning xeroderma pigmentosum in North Africa.
|
27413738 |
2016 |
Xeroderma Pigmentosum
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Missense mutations in the XPC gene may allow partial functionality that could explain this unusual late onset XP.
|
26278556 |
2015 |
Xeroderma Pigmentosum
|
0.700 |
Biomarker
|
disease |
BEFREE |
DNA damage recognition subunits such as DDB2 and XPC protect the human skin from ultraviolet (UV) light-induced genome instability and cancer, as demonstrated by the devastating inherited syndrome xeroderma pigmentosum.
|
24770583 |
2014 |
Xeroderma Pigmentosum
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to determine the frequency of the most common XPC mutation and describe the clinical features of Moroccan patients with xeroderma pigmentosum.
|
23143338 |
2013 |
Xeroderma Pigmentosum
|
0.700 |
Biomarker
|
disease |
BEFREE |
To better understand the identification of DNA damage by XPC in the context of chromatin and the role of XPC in the pathogenesis of XP, we characterized the interactome of XPC using a high throughput yeast two-hybrid screening.
|
24366067 |
2013 |
Xeroderma Pigmentosum
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons.
|
24218596 |
2013 |
Xeroderma Pigmentosum
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To assess the efficiency of readthrough, we selected homozygous and compound heterozygous skin fibroblasts from xeroderma pigmentosum (XP) patients with different PTCs in the XPC DNA repair gene.
|
24218596 |
2013 |
Xeroderma Pigmentosum
|
0.700 |
Biomarker
|
disease |
CTD_human |
Slow accumulation of mutations in Xpc-/- mice upon induction of oxidative stress.
|
24084170 |
2013 |
Xeroderma Pigmentosum
|
0.700 |
Biomarker
|
disease |
BEFREE |
The molecular diagnosis and identification of mutation in patients requires the knowledge of the causative gene by the determination of XP complementation groups.Soufir et al. have reported that XPC is the major disease-causing gene with a recurrent mutation in the Mediterranean region.
|
22211393 |
2012 |
Xeroderma Pigmentosum
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A new XPC gene splicing mutation has lead to the highest worldwide prevalence of xeroderma pigmentosum in black Mahori patients.
|
21482201 |
2011 |
Xeroderma Pigmentosum
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A new XPC gene splicing mutation has lead to the highest worldwide prevalence of xeroderma pigmentosum in black Mahori patients.
|
21482201 |
2011 |
Xeroderma Pigmentosum
|
0.700 |
Biomarker
|
disease |
BEFREE |
In conclusion, XPC appears to be the major disease-causing gene concerning xeroderma pigmentosum in North Africa.
|
20054342 |
2010 |
Xeroderma Pigmentosum
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The xeroderma pigmentosum C (XPC) protein is essential for initiating global genome NER by recognizing the DNA lesion and recruiting downstream factors.
|
21149730 |
2010 |
Xeroderma Pigmentosum
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms.
|
18955168 |
2009 |
Xeroderma Pigmentosum
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms.
|
18955168 |
2009 |