|
rs10055201
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A previous genome-wide association study (GWAS) identified four genetic polymorphisms (rs1027702 near <i>DUSP12</i>, rs10055201 in <i>IL31RA</i>, rs2619046 in <i>DDX4</i>, and rs11037575 in <i>HSD17B12</i> gene) that were associated with neuroblastoma susceptibility, especially for low-risk subjects.
|
28435286 |
2017 |
|
rs1024611
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Dual-luciferase reporter assays were conducted in neuroblastoma cells to assess the promoter transcriptional activity of the rs1024611 variants (T>C) and the GRCh38.p12chr17:34252593 G>C alleles in CCL2.
|
30761072 |
2019 |
|
rs1027702
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A previous genome-wide association study (GWAS) identified four genetic polymorphisms (rs1027702 near <i>DUSP12</i>, rs10055201 in <i>IL31RA</i>, rs2619046 in <i>DDX4</i>, and rs11037575 in <i>HSD17B12</i> gene) that were associated with neuroblastoma susceptibility, especially for low-risk subjects.
|
28435286 |
2017 |
|
rs1039659576
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The aim of this study was to investigate whether the genetic polymorphisms MTHFR C677T and A1298C, MTR A2756G, TYMS 2R/3R and SLC19A1 G80A, involved in folate metabolism, increase the risk of neuroblastoma in Brazilian children.
|
24771227 |
2014 |
|
rs1042522
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Overall, we confirmed that miR-34b/c rs4938723 and TP53 Arg72Pro conferred decreased neuroblastoma risk and two polymorphisms exerted stronger protective effects against neuroblastoma than either one alone.
|
31325764 |
2019 |
|
rs1042522
|
|
|
0.030 |
GeneticVariation |
BEFREE |
These results indicate that the <i>TP53</i> gene rs1042522 allele G may be a potential protective factor against neu</span>roblastoma in Chinese children.
|
30719141 |
2019 |
|
rs1042522
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In our stratification analysis of age, gender, sites of origin, and clinical stages, we observed that subjects with rs1042522 CG/GG genotypes had a lower risk of developing neuroblastoma in the mediastinum (Adjusted OR=0.52, 95% CI=0.33-0.82, <i>P</i>=0.005) than those carrying the CC genotype.
|
28275206 |
2017 |
|
rs1045485
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A missense SNP in exon 10 of the CASP8 gene SNP D302H was associated with worse overall and event-free survival in patients with MYCN-amplified neuroblastoma tumors.
|
25502557 |
2014 |
|
rs1047768
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study with 256 neuroblastoma cases and 531 cancer-free controls, we investigated the effects of five potentially functional polymorphisms (rs2094258 C>T, rs751402 C>T, rs2296147 T>C, rs1047768 T>C and rs873601G>A) on neuroblastoma risk.
|
27019310 |
2016 |
|
rs1048108
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Functional single-nucleotide polymorphism (SNP) prioritization identified two causative variants that independently contributed to neuroblastoma risk, and each replicated robustly in multiple independent cohorts comprising 445 high-risk cases and 3,170 controls (rs17489363: combined p = 1.07 × 10<sup>-31</sup> , OR:1.79, 95% CI:1.62-1.98 and rs1048108: combined p = 7.27 × 10<sup>-14</sup> , OR:0.65, 95% CI:0.58-0.73).
|
30132831 |
2018 |
|
rs104893855
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We demonstrate that both WT PHOX2B and the neuroblastoma-associated R100L missense and the CCHS-associated alanine expansion variants induce nuclear translocation of HPCAL1 in a Ca(2+)-independent manner, while the neuroblastoma-associated 676delG frameshift and K155X truncation mutants impair subcellular localization of HPCAL1, causing it to remain in the cytoplasm.
|
23873030 |
2014 |
|
rs104893856
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified two mutations, 600delC, a frameshift mutation in an individual with isolated, unifocal NB and G197D, a missense mutation that was present in a family with multiple individuals with NB but no evidence of autonomic dysfunction.
|
16691592 |
2006 |
|
rs104893877
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Marked dysregulations of microbial defense factors Ifit3 and Rsad2 were consistently observed upon five analyses: (1) Pink1 <sup>-/-</sup> primary neurons in the first weeks after brain dissociation, (2) aged Pink1 <sup>-/-</sup> midbrain with transgenic A53T-alpha-synuclein overexpression, (3) human neuroblastoma cells with PINK1-knockdown and murine Pink1 <sup>-/-</sup> embryonal fibroblasts undergoing acute starvation, (4) triggering mitophagy in these cells with trifluoromethoxy carbonylcyanide phenylhydrazone (FCCP), and (5) subjecting them to pathogenic RNA-analogue poly(I:C).
|
28768533 |
2017 |
|
rs104893877
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Finally, we show that this association inhibits α-synuclein A53T oligomer toxicity in neuroblastoma cells.
|
28102321 |
2017 |
|
rs104893877
|
|
|
0.050 |
GeneticVariation |
BEFREE |
In this study, we examined the influence of the overexpression of wild-type (WT) and mutant-type (MT, A53T and A30P) α-synuclein on the autophagy in neuroblastoma SH-SY5Y cells under starvation, and then investigated the regulation of endogenous HMGB1 on the α-synuclein degradation and on the starvation-induced autophagy in the α-synuclein-overexpressed SH-SY5Y cells.
|
29551576 |
2018 |
|
rs104893877
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Neuroblastoma cells were stably transfected with wild type (WT) and A53T mutant alpha-synuclein.
|
16584840 |
2006 |
|
rs104893877
|
|
|
0.050 |
GeneticVariation |
BEFREE |
We investigated transcriptional changes in neuroblastoma cell lines transfected with either normal or mutant (A30P or A53T) alpha-synuclein using microarrays, with confirmation of selected genes by quantitative RT-PCR.
|
12716427 |
2003 |
|
rs104893878
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Additionally, the expression of A30P α-syn on neuroblastoma SH-SY5Y leads to decreased cell death triggered by the CM of activated glia, when compared to WT α-syn or control group.
|
26502720 |
2015 |
|
rs104893878
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The Parkinson disease-associated A30P mutation stabilizes alpha-synuclein against proteasomal degradation triggered by heme oxygenase-1 over-expression in human neuroblastoma cells.
|
19457084 |
2009 |
|
rs104893878
|
|
|
0.060 |
GeneticVariation |
BEFREE |
We used dopaminergic human neuroblastoma BE(2)-M17 cell lines stably transfected with WT or A30P mutant alpha-synuclein to characterize the effect of alpha-synuclein on dopamine toxicity.
|
20334701 |
2010 |
|
rs104893878
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The present study shows that overexpression of alpha-synuclein A53T or A30P mutants or wild-type in human neuroblastoma cells augmented aggregation of alpha-synuclein.
|
19460457 |
2009 |
|
rs104893878
|
|
|
0.060 |
GeneticVariation |
BEFREE |
In this study, we examined the influence of the overexpression of wild-type (WT) and mutant-type (MT, A53T and A30P) α-synuclein on the autophagy in neuroblastoma SH-SY5Y cells under starvation, and then investigated the regulation of endogenous HMGB1 on the α-synuclein degradation and on the starvation-induced autophagy in the α-synuclein-overexpressed SH-SY5Y cells.
|
29551576 |
2018 |
|
rs104893878
|
|
|
0.060 |
GeneticVariation |
BEFREE |
We investigated transcriptional changes in neuroblastoma cell lines transfected with either normal or mutant (A30P or A53T) alpha-synuclein using microarrays, with confirmation of selected genes by quantitative RT-PCR.
|
12716427 |
2003 |
|
rs104893936
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Collectively, the results demonstrated unambiguously that overexpression of beta-syn mutants (P123H and V70M) in neuroblastoma cells results in an enhanced lysosomal pathology.
|
17652097 |
2007 |
|
rs104893937
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Collectively, the results demonstrated unambiguously that overexpression of beta-syn mutants (P123H and V70M) in neuroblastoma cells results in an enhanced lysosomal pathology.
|
17652097 |
2007 |