|
rs63749805
|
|
|
0.030 |
GeneticVariation |
BEFREE |
To elucidate the role of presenilin-1 in the Alzheimer's disease pathology, we tested two such mutations (P117L and M146L) for their effect in stably transfected mouse neuroblastoma cell lines.
|
11311782 |
2001 |
|
rs1273925499
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To elucidate the role of presenilin-1 in the Alzheimer's disease pathology, we tested two such mutations (P117L and M146L) for their effect in stably transfected mouse neuroblastoma cell lines.
|
11311782 |
2001 |
|
rs63751235
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This study examined the effects of overexpression of presenilin-1 wild-type (PS1wt) or mutant L286V (PS1m) in human neuroblastoma SH-SY5Y cells on signal transduction systems.
|
11382407 |
2001 |
|
rs369576054
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Functional characterization of naturally occurring mutants (P405R and P425L) of p73alpha and p73beta found in neuroblastoma and lung cancer.
|
11429704 |
2001 |
|
rs538874513
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Functional characterization of naturally occurring mutants (P405R and P425L) of p73alpha and p73beta found in neuroblastoma and lung cancer.
|
11429704 |
2001 |
|
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 |
|
rs63751163
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We showed previously that PS1 exon 9 deletion (PS1 DeltaE9) and L250S mutations predispose SH-SY5Y neuroblastoma cells to high glucose stress-induced apoptosis and that the anti-apoptotic effect of insulin-like growth factor I (IGF-I) is compromised by these mutations.
|
11746362 |
2001 |
|
rs121912431
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Expression of mutant SOD1 (G37R) resulted in a time and dose-related death of differentiated neuroblastoma cells.
|
12067230 |
2002 |
|
rs121912438
|
|
|
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
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We have recently observed that calcineurin activity is depressed in human neuroblastoma cells expressing Cu,Zn superoxide dismutase (SOD1) mutant G93A and in brain areas from G93A transgenic mice, and that mutant G93A-SOD1 oxidatively inactivates calcineurin in vitro.
|
12437573 |
2002 |
|
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 |
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 |
|
rs1481318368
|
|
|
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 |
|
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 |
|
rs41274458
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Using RT-PCR single-strand conformation polymorphism analysis and direct sequencing we detected a missense mutation (M807I) in 1 NB cell line (SK-N-SH), 3 silent mutations in 2 NB cell lines and 1 primitive neuroectodermal tumor cell line, respectively.
|
12888911 |
2003 |
|
rs121912438
|
|
|
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 |
|
rs138085133
|
|
|
0.010 |
GeneticVariation |
BEFREE |
EXTL1 mutation screening resulted in the detection of one unclassified variant (Ser28Cys) but could not provide additional evidence of EXTL1 being involved in the aetiology of neuroblastoma.
|
15110891 |
2004 |
|
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
These effects are consequent to activation of inflammatory processes in G93A-glioblastoma cells stimulated by cocultured G93A-neuroblastoma.
|
15208263 |
2004 |
|
rs121917887
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Compared with its wild-type, NDPK-A(S120G) appears more effective in promoting neuroblastoma metastasis.
|
15280446 |
2004 |
|
rs121912431
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Mouse neuroblastoma Neuro-2a cells were transfected with human wild-type or mutated (G37R, G93A) Cu,Zn-SOD.
|
15456693 |
2005 |
|
rs121912438
|
|
|
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 |
|
rs1475170339
|
|
|
0.020 |
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 |
|
rs1438565133
|
|
|
0.010 |
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 |
|
rs587781960
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Using polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) analysis and reverse transcriptase (RT)-PCR-SSCP followed by direct sequence analysis, we detected only one missense mutation (S505T) in one NB cell line and two silent mutations in one NB cell line and one NB fresh tumor, respectively.
|
15942682 |
2005 |
|
rs28938172
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To further investigate whether pathogenic mutations might prevent the distribution of DJ-1 to mitochondria, we generated human neuroblastoma cells stably transfected with wild-type (WT) or mutant (M26I, L166P, A104T, D149A) DJ-1 and performed mitochondrial fractionation and confocal co-localization imaging studies.
|
15944198 |
2005 |