Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We analysed the associations between genetic polymorphisms in genes coding for DNA repair enzymes XPD (exon 23 A --> C, K751Q), XPG (exon 15 G --> C, D1104H), XPC (exon 15 A --> C, K939Q), XRCC1 (exon 10 G --> A, R399Q) and XRCC3 (exon 7 C --> T, T241 M) and the levels of chromosomal aberrations (CAs) and single-strand breaks (SSBs) in peripheral lymphocytes in a central European population.
|
14729591 |
2004 |
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In the present study, we investigated markers of genotoxicity [chromosomal aberrations (CAs) and single-strand breaks (SSBs)] in a cohort of 110 tire plant workers engaged in jobs with different levels of xenobiotic exposure in relation to various polymorphisms in genes coding for biotransformation enzymes (CYP1A1, CYP2E1, EPHX1, GSTM1, GSTP1, and GSTT1) and in genes involved in DNA repair (XPD exon 23, XPG exon 15, XPC exon 15, XRCC1 exon 10, and XRCC3 exon 7).
|
15470755 |
2004 |
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
XRCC1 399Gln and XRCC3 241Met are deficient in the repair of X-ray-, but not UV-light-induced chromosome aberrations, therefore the variant genes are defective in base excision repair.
|
15471094 |
2004 |
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Our data suggest that the XRCC1 280His and XRCC3 241Met alleles affect individual CA levels, most probably via influencing the DNA repair phenotype.
|
15971256 |
2005 |
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
A protective effect of the XRCC3 241Met allele was only found in the older age group in non-smokers for CA, CSA and CTA, and in smokers for CSA.
|
16997330 |
2006 |
Congenital chromosomal disease
|
0.100 |
AlteredExpression
|
group |
BEFREE |
We found that XRCC1 399Gln and XRCC3 241Met were deficient in the repair of gamma-ray-but not UV-light-induced DNA damage that led to the expression of chromosome aberrations; therefore the variant genotypes are defective in base excision repair.
|
17019047 |
2006 |
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
Five proteins (RAD51B, RAD51C, RAD51D, XRCC2, and XRCC3) that share homology with RAD51 recombinase and are known as the RAD51 paralogs are important for recombinational repair, as paralog-defective cell lines exhibit spontaneous chromosomal aberrations, defective DNA repair, and reduced gene targeting.
|
17114795 |
2007 |
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
Importantly, accounting for differences in Cr ion levels, we discovered that XRCC3 and RAD51C cells treated with lead chromate had increased cytotoxicity and chromosomal aberrations, relative to wildtype and cDNA-complimented cells.
|
17662313 |
2007 |
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
Moreover, disruption of XRCC3 suppresses MMS and UV sensitivity and the MMS- and UV-induced chromosomal aberrations of blm cells, indicating that BLM acts downstream of XRCC3.
|
17923529 |
2007 |
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We evaluated chromosome aberrations (CAs) in lymphocytes of 200 workers exposed to organic solvents and 200 referents and the influence of polymorphisms in xenobiotic-metabolism (CYP2E1, GSTM1 and GSTT1) and in DNA repair genes (XRCC1(194) Arg/Trp, XRCC1(280) Arg/His, XRCC1(399) Arg/Gln and XRCC3(241) Thr/Met).
|
19481674 |
2009 |
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
We show that HR defective cells (BRCA2, Rad51D and XRCC3 mutants) are dramatically more sensitive to MMS-induced DNA damage as measured by colony formation, apoptosis and chromosomal aberrations, while NHEJ defective cells (Ku80 and DNA-PK(CS) mutants) are only mildly sensitive to the killing, apoptosis-inducing and clastogenic effects of MMS.
|
20708982 |
2010 |
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Changes in the XRCC3 protein lead to an increase in errors in chromosome segregation due to defects in centrosomes, resulting in aneuploidy and other chromosomal aberrations, such as small increases in telomeres.
|
22370935 |
2012 |