|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Unexpected extradermatological findings in 31 patients with xeroderma pigmentosum type C.
|
23278166 |
2013 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
1.000 |
Biomarker
|
disease |
BEFREE |
Xeroderma pigmentosum complementation group C (XPC) is one of the essential damage recognition proteins of the GG-NER pathway and its dysfunction results in xeroderma pigmentosum (XP), a disorder involving photosensitivity and a predisposition to cancer.
|
24366067 |
2013 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Further evidence of mutational heterogeneity of the XPC gene in Tunisian families: a spectrum of private and ethnic specific mutations.
|
23984341 |
2013 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Molecular genetic analysis of 16 XP-C patients from Germany: environmental factors predominately contribute to phenotype variations.
|
23173980 |
2013 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
1.000 |
Biomarker
|
disease |
BEFREE |
Numerous studies have investigated the association between xeroderma pigmentosum complementation group C (XPC) poly (AT) deletion/insertion (PAT -/+) polymorphism and cancer susceptibility; however, the findings are inconsistent.
|
23892089 |
2013 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
1.000 |
Biomarker
|
disease |
BEFREE |
Moreover, Individuals carrying the XPC (PAT)-(499)-(939) diplotype, PAT-CG/PAT-TG, had a higher MN frequency, compared with individuals carrying the wild-type PAT-CA/PAT-CA.
|
23562908 |
2013 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Polymorphisms of xeroderma pigmentosum complementation group C (XPC) are thought to have significant effects on prostate cancer (PCa) risk.
|
24093803 |
2013 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Molecular genetic analysis of 16 XP-C patients from Germany: environmental factors predominately contribute to phenotype variations.
|
23173980 |
2013 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
1.000 |
Biomarker
|
disease |
BEFREE |
Cullin 4A (CUL4A) is an E3 ubiquitin ligase that directly affects DNA repair and cell cycle progression by targeting substrates including damage-specific DNA-binding protein 2 (DDB2), xeroderma pigmentosum complementation group C (XPC), chromatin licensing and DNA replication factor 1 (Cdt1), and p21.
|
23845142 |
2013 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
1.000 |
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, COMPLEMENTATION GROUP C
|
1.000 |
Biomarker
|
disease |
BEFREE |
The xeroderma pigmentosum complementation group C (XPC) is responsible for removal of bulky helix-distorting DNA lesions.
|
21104992 |
2011 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
1.000 |
Biomarker
|
disease |
BEFREE |
However, in tobacco consumers, we have shown that Null GSTM1, Wild GSTT1, Slow NAT2, XPC (CC) and XPG (CC) are genetic risk factors for the disease.
|
21647780 |
2011 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Post-UV DNA repair, cell survival and genetic complementation assigned these patients to the XP group C. All patients exhibited a new G→C homozygous substitution at 3'-end of XPC intron 12 (IVS 12-1G>C) leading to the abolition of an acceptor splicing site and the absence of the XPC protein.
|
21482201 |
2011 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
1.000 |
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, COMPLEMENTATION GROUP C
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To investigate the association between two Xeroderma pigmentosum group C polymorphism (XPC Lys939Gln and insertion/deletion PAT -/+ in intron 9) and bladder cancer (BC) susceptibility.
|
19924443 |
2010 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Loss or mutation of XPC may be an early event during skin carcinogenesis that provides a selective advantage for initiation and progression of squamous cell carcinomas in non XP-C patients.
|
20616346 |
2010 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
AFB1 DNA adduct levels, XPC genotypes, and XPC protein levels were tested with a comparative enzyme-linked immunosorbent assay, TaqMan polymerase chain reaction for XPC genotypes, and immunohistochemistry, respectively.
|
20658464 |
2010 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa.
|
20054342 |
2010 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Founder mutations in xeroderma pigmentosum.
|
20463673 |
2010 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis.
|
19478817 |
2009 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Two-stage dynamic DNA quality check by xeroderma pigmentosum group C protein.
|
19609301 |
2009 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms.
|
18955168 |
2009 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
1.000 |
Biomarker
|
disease |
CLINGEN |
High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis.
|
19478817 |
2009 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Two-stage dynamic DNA quality check by xeroderma pigmentosum group C protein.
|
19609301 |
2009 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Skin cancers, blindness, and anterior tongue mass in African brothers.
|
19119101 |
2008 |