|
rs863225281
|
|
|
0.100 |
GeneticVariation |
BEFREE |
However, lethal neuroblastoma</span> frequently developed in mice co-expressing ALK F1174L and MYCN, even in a genetic background where MYCN alone does not cause overt tumors.
|
31218818 |
2019 |
|
rs863225281
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We have shown that the combination of crizotinib and an inhibitor of downstream signaling induces a favorable response in transgenic mice bearing ALK(F1174L)/MYCN-positive neuroblastoma.
|
25228590 |
2014 |
|
rs863225281
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Here we present the evidence that murine neural crest progenitor cells can give rise to neuroblastoma upon transformation with MYCN or ALK(F1174L).
|
22484425 |
2013 |
|
rs863225281
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The neuroblastoma-associated F1174L ALK mutation causes resistance to an ALK kinase inhibitor in ALK-translocated cancers.
|
21030459 |
2010 |
|
rs121917887
|
|
|
0.080 |
GeneticVariation |
BEFREE |
A similar ser120-gly mutation in NME1 has been found in human neuroblastoma, suggesting that mutation in this region may be a general phenomenon related to tumor progression.
|
7794272 |
1995 |
|
rs121917887
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Aggregation of the neuroblastoma-associated mutant (S120G) of the human nucleoside diphosphate kinase-A/NM23-H1 into amyloid fibrils.
|
21484438 |
2011 |
|
rs121917887
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Moreover, like the Killer-of-prune mutation in Drosophila NDK and the neuroblastoma Ser120 --> Gly mutation in human NDK-A/Nm23-H1, the Ser122 --> Pro substitution in NDK-B affects the stability of the protein toward heat and urea.
|
10400630 |
1999 |
|
rs121917887
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Prune protein interacts with the metastasis suppressor nm23-H1, but shows impaired affinity towards the nm23-H1 S120G mutant associated with advanced neuroblastoma.
|
11687967 |
2001 |
|
rs121917887
|
|
|
0.080 |
GeneticVariation |
BEFREE |
However, the k-pn type proline-96 to serine (P96S) and neuroblastoma type serine-120 to glycine (S120G) mutations of Nm23-H1 abrogated its inhibitory activity on colonization and invasion.
|
12859952 |
2003 |
|
rs121917887
|
|
|
0.080 |
GeneticVariation |
BEFREE |
The point mutation S120G in human nucleoside diphosphate kinase A, identified in patients with neuroblastoma, causes a protein folding defect.
|
19186179 |
2009 |
|
rs121917887
|
|
|
0.080 |
GeneticVariation |
BEFREE |
We summarize and discuss nm23-H1 genetics and the prognosis of neuroblastoma, structural and functional changes associated with the S120G mutation of NDPK-A, as well as the evidence supporting the role of NDPK-A as a metastasis promoter.
|
28991262 |
2018 |
|
rs121917887
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Compared with its wild-type, NDPK-A(S120G) appears more effective in promoting neuroblastoma metastasis.
|
15280446 |
2004 |
|
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 |
|
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 |
|
rs110419
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Our findings revealed that rs110419 and rs2168101 polymorphisms were significantly associated with a decreased risk of NB in all genetic models.
|
31830377 |
2020 |
|
rs110419
|
|
|
0.050 |
GeneticVariation |
BEFREE |
We found that the rs110419 A > G polymorphism was associated with a significantly decreased neuroblastoma</span> risk (AG vs. AA: adjusted OR = 0.65, 95% CI = 0.47-0.91; GG vs. AA: adjusted OR = 0.58, 95% CI = 0.36-0.91; AG/GG vs. AA: adjusted OR = 0.63, 95% CI = 0.46-0.86), and the protective effect was more predominant in children of age > 18 months, males, subgroups with tumor in adrenal gland and mediastinum, and patients in clinical stages III/IV.
|
27009839 |
2016 |