|
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 |
CausalMutation
|
disease |
CLINVAR |
Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients.
|
16081512 |
2006 |
|
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 |
GeneticVariation
|
disease |
LHGDN |
A novel complex insertion/deletion mutation in the XPC DNA repair gene leads to skin cancer in an Iraqi family.
|
16794584 |
2006 |
|
Xeroderma Pigmentosum
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We have studied 11 polymorphisms in genes of drug detoxification pathways (NQO1, glutathione S-transferase pi) and DNA repair xeroderma pigmentosum, complementation group (3) (XPC(3), X-ray repair cross complementing protein (1)), Nijmegen breakage syndrome (1), excision repair cross-complementing rodent repair deficiency, complementation group (5) and X-ray repair cross complementing protein (3) and in the methylene tetrahydrofolate reductase gene (MTHFR(2), 677C>T, 1298A>C), involved in DNA synthesis.
|
17476281 |
2007 |
|
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 |
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 |
GeneticVariation
|
disease |
LHGDN |
XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms.
|
18955168 |
2009 |
|
Xeroderma Pigmentosum
|
0.700 |
Biomarker
|
disease |
BEFREE |
In this study, we used an epidemiological approach to analyze an animal database of DNA repair deficient mice on reproductive performance in five Nucleotide Excision Repair (NER) mutant mouse models on a C57BL/6 genetic background, namely CSA, CSB, XPA, XPC [models for the human DNA repair disorders Cockayne Syndrome (CS) and xeroderma pigmentosum (XP), respectively] and mHR23B (not associated with human disease).
|
16315091 |
2005 |
|
Xeroderma Pigmentosum
|
0.700 |
Biomarker
|
disease |
BEFREE |
The previously cloned XPC gene is involved in the common XP complementation group C, which is defective in excision repair of non-transcribed sequences in the genome.
|
7851894 |
1994 |
|
Xeroderma Pigmentosum
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
Dissection of the molecular defects caused by pathogenic mutations in the DNA repair factor XPC.
|
18809580 |
2008 |
|
Xeroderma Pigmentosum
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In this report, we investigate the relationship between xeroderma pigmentosum complementary group C poly (AT) insertion/deletion polymorphism (XPC-PAT) of the XPC gene and lung cancer risk in a hospital-based case-control study of 359 newly diagnosed lung cancer patients and 375 control subjects matched on age, sex, and catchment area.
|
15533908 |
2004 |
|
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 |
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 |
GeneticVariation
|
disease |
LHGDN |
Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients.
|
16081512 |
2006 |
|
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Xeroderma pigmentosum type C (XPC) is a rare autosomal recessive disorder that occurs due to inactivation of the XPC protein, an important DNA damage recognition protein involved in DNA nucleotide excision repair (NER).
|
18202716 |
2008 |
|
Xeroderma Pigmentosum
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in XPC lead to a defect in NER and to xeroderma pigmentosum (XP-C).
|
18809580 |
2008 |
|
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 |
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 |
GeneticVariation
|
disease |
LHGDN |
Polymorphisms of the DNA repair gene xeroderma pigmentosum groups A and C and risk of esophageal squamous cell carcinoma in a population of high incidence region of North China.
|
17653764 |
2008 |
|
Xeroderma Pigmentosum
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A novel XPC pathogenic variant detected in archival material from a patient diagnosed with Xeroderma Pigmentosum: a case report and review of the genetic variants reported in XPC.
|
17079196 |
2007 |
|
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 |