|
rs1131691014
|
|
Central neuroblastoma
|
|
0.010 |
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 |
|
rs75183227
|
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
The cellular distribution of an overexpressed phospho-null mutant, TH1-S31A, was restricted to the soma of neuroblastoma cells, with decreased association with the microsomal fraction, whereas a phospho-mimic mutant, TH1-S31E, was distributed throughout the soma and neurites.
|
28637871 |
2017 |
|
rs1481318368
|
|
Central neuroblastoma
|
|
0.010 |
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 |
|
rs1468034466
|
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
We observed an increased total iron content in G93A-SOD1 SH-SY5Y neuroblastoma cells compared to wild-type (WT)-SOD1 cells. mRNA expression for transferrin receptor 1 (TfR1) and divalent metal transporter 1 was increased in G93A-SOD1 cells, which was in accordance with higher iron uptake.
|
23178912 |
2013 |
|
rs4884357
|
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
In the current study, we analyzed protein turnover and subcellular distribution of wild-type TDP-43 and two disease-associated mutants (G298S and A382T) in human neuroblastoma SH-SY5Y cells stably expressing TDP-43 with a C-terminal tag.
|
24477737 |
2014 |
|
rs367543041
|
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
In the current study, we analyzed protein turnover and subcellular distribution of wild-type TDP-43 and two disease-associated mutants (G298S and A382T) in human neuroblastoma SH-SY5Y cells stably expressing TDP-43 with a C-terminal tag.
|
24477737 |
2014 |
|
rs59912467
|
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
A heterozygous missense mutation in STK11 (F354L) was identified in both the NB and FVPTC.
|
25751324 |
2015 |
|
rs1057520018
|
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
A heterozygous missense mutation in STK11 (F354L) was identified in both the NB and FVPTC.
|
25751324 |
2015 |
|
rs3784730
|
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, we analyzed the effects of two iSNPs of ST8SIA2, rs2168351 and rs3784730, which are associated with bipolar disorder and autism spectrum disorder, respectively, on the expression of mRNA, ST8SIA2 and its final product, polySia in mouse neuroblastoma and human adenocarcinoma cell lines.
|
27565727 |
2016 |
|
rs2168351
|
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, we analyzed the effects of two iSNPs of ST8SIA2, rs2168351 and rs3784730, which are associated with bipolar disorder and autism spectrum disorder, respectively, on the expression of mRNA, ST8SIA2 and its final product, polySia in mouse neuroblastoma and human adenocarcinoma cell lines.
|
27565727 |
2016 |
|
rs121908513
|
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Overexpression of I344K-SPAST resulted in microtubule accumulation following inhibited neurite growth in neuroblastoma, neural progenitor cells and mouse primary cortical neurons.
|
30006150 |
2018 |
|
rs1285675735
|
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
TERT promoter mutations were found in seven out of 289 tumors and in three out of 18 human cell lines; four C228T mutations in 38 ACCs (10.5%), two C228T mutations in 18 ea PGLs (11.1%), one C250T mutation in 36 GISTs (2.8%), and three C228T mutations in 16 human NBL cell lines (18.75%).
|
24951106 |
2014 |
|
rs4987023
|
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Previously, we reported that overexpression of the mitochondrial antioxidant manganese superoxide dismutase (MnSOD or SOD2) attenuates cytotoxicity induced by expression of the G37R-SOD1 mutant in a human neuroblastoma cell culture model of ALS.
|
17394531 |
2007 |
|
rs121912438
|
|
Central neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
To understand better the role of these mutations in the pathophysiology of FALS we have compared the pattern of proteins expressed in human neuroblastoma SH-SY5Y cell line with those of cell lines transfected with plasmids expressing the wild-type human SOD1 and the H46R and G93A mutants.
|
17979159 |
2007 |
|
rs121912438
|
|
Central neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Treatment of G93A-SOD</span>1 SH-SY5Y neuroblastoma cells with the antioxidant N-acetylcysteine reduced the toxicity of pneumolysin.
|
17997855 |
2007 |
|
rs121912438
|
|
Central neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
We observed an increased total iron content in G93A-SOD1 SH-SY5Y neuroblastoma cells compared to wild-type (WT)-SOD1 cells. mRNA expression for transferrin receptor 1 (TfR1) and divalent metal transporter 1 was increased in G93A-SOD1 cells, which was in accordance with higher iron uptake.
|
23178912 |
2013 |
|
rs121912438
|
|
Central neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
In order to investigate the basis of the tissue specificity of mutant SOD1 we compared the effect of the continuous expression of wild-type or mutant (G93A) human SOD1 on mitochondrial morphology in the NSC-34 motoneuronal-like, the N18TG2 neuroblastoma and the non-neuronal Madin-Darby Canine Kidney (MDCK) cell lines.
|
16903849 |
2006 |
|
rs121912438
|
|
Central neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Human neuroblastoma SH-SY5Y cells transfected with either familial amyotrophic lateral sclerosis-typical G93A mutant or wild-type copper/zinc superoxide dismutase were compared to untransfected cells in term of glutamate transport.
|
15670639 |
2005 |
|
rs121912438
|
|
Central neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
We report that the expression of mutant G93A copper/zinc superoxide dismutase (SOD1), associated with familial amyotrophic lateral sclerosis, specifically causes a decrease in MTT reduction rate and ATP levels and an increase in both cytosolic and mitochondrial reactive oxygen species (ROS) production in human neuroblastoma SH-SY5Y cells compared to cells overexpressing wild-type SOD1 and untransfected cells.
|
12901835 |
2003 |
|
rs121912438
|
|
Central neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
In order to investigate the effect of various calcium modulators and the SOD-1 mutation on neuronal death, we tested motoneuron-neuroblastoma hybrid (VSC 4.1) cells constitutively expressing human SOD-1 gene with mutations (A4V, G93A) or wild-type.
|
12151755 |
2002 |
|
rs121912438
|
|
Central neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
We detected this interaction both in spinal cord extracts of mutant SOD1(G93A) transgenic mice and in cultured neuroblastoma cells.
|
17403032 |
2007 |
|
rs121912438
|
|
Central neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Overexpression of a familial mutant form of superoxide dismutase 1 (SOD1) (G93A) in neuroblastoma cells resulted in a similar reduction of IGF-1Rβ protein.
|
22875931 |
2012 |
|
rs121912438
|
|
Central neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Impairment of nuclear factor-kappaB activation increased glutamate excitotoxicity in a motoneuron-neuroblastoma hybrid cell line expressing mutant (G93A) Cu/Zn-superoxide dismutase.
|
20623531 |
2010 |
|
rs121912438
|
|
Central neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
To characterize the cellular response to mitochondrial perturbations at the level of gene expression and alternative pre-mRNA splicing we used splicing-sensitive microarrays to profile human neuroblastoma SH-SY5Y cells treated with paraquat, a neurotoxic herbicide that induces the formation of reactive oxygen species and causes mitochondrial damage in animal models, and SH-SY5Y cells stably expressing the mutant G93A-SOD1 protein, one of the genetic causes of ALS.
|
21120952 |
2011 |
|
rs121912438
|
|
Central neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
We have set up a model system for familial amyotrophic lateral sclerosis (FALS) by transfecting human neuroblastoma cell line SH-SY5Y with plasmids directing constitutive expression of either wild-type human Cu,Zn superoxide dismutase (Cu,ZnSOD) or a mutant of this enzyme (G93A) associated with FALS.
|
9315720 |
1997 |