|
rs863225281
|
|
Neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
The neuroblastoma-associated F1174L ALK mutation causes resistance to an ALK kinase inhibitor in ALK-translocated cancers.
|
21030459 |
2010 |
|
rs863225281
|
|
Neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Accordingly, the combination of the ALK/MET inhibitor crizotinib and selective HDAC8 inhibitors (3-6 µM PCI-34051 or 10 µM 20a) efficiently killed neuroblastoma cell lines carrying wildtype ALK (SK-N-BE(2)-C, IMR5/75), amplified ALK (NB-1), and those carrying the activating ALK F1174L mutation (Kelly), and, in cells carrying the activating R1275Q mutation (LAN-5), combination treatment decreased viable cell count.
|
29515255 |
2018 |
|
rs863225281
|
|
Neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
ALK inhibitor resistance in ALK(F1174L)-driven neuroblastoma is associated with AXL activation and induction of EMT.
|
26616860 |
2016 |
|
rs863225281
|
|
Neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
A 77-gene ALK signature was established and successfully validated in primary neuroblastoma samples, in a neuroblastoma cell line with ALK(F1174L) and ALK(R1275Q) regulable overexpression constructs and in other ALKomas.
|
25805801 |
2015 |
|
rs8173
|
|
Neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
To investigate the association between three <i>AURKA</i> polymorphisms (rs1047972 C>T, rs2273535 T>A, and rs8173 G>C) and neuroblastoma susceptibility in Chinese populations, we performed this two-center case-control study including 393 neuroblastoma cases and 812 controls.
|
29678897 |
2018 |
|
rs80059929
|
|
Neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
We identified a novel locus at 3p21.31 indexed by the single nucleotide polymorphism (SNP) rs80059929 (odds ratio [OR] = 2.95, 95% confidence interval [CI] = 2.17 to 4.02, Pmeta = 6.47 × 10-12) associated with MYCN-amplified neuroblastoma, which was replicated in 127 MYCN-amplified cases and 254 non-high-risk controls (OR = 2.30, 95% CI = 1.12 to 4.69, Preplication = .02).
|
29117357 |
2017 |
|
rs79977247
|
|
Neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Further, an obviously cytotoxic effect of the V30A TTR on the human neuroblastoma cell line, IMR-32, was observed.
|
23523753 |
2013 |
|
rs7973450
|
|
Neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Overall, our results suggested that rs7973450 A>G was associated with increased neuroblastoma risk.
|
31564912 |
2019 |
|
rs786203436
|
|
Neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Nevertheless, the G81A/C91T polymorphism, previously implicated in regulating the expression of p73, did not show any significant association with neuroblastoma development.
|
11205839 |
2001 |
|
rs78378222
|
|
Neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
These findings add neuroblastoma to the complex repertoire of human cancers influenced by the rs78378222 hypomorphic allele, which impairs proper termination and polyadenylation of TP53 transcripts.
|
24634504 |
2014 |
|
rs781734330
|
|
Neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
To this end, we generated a set of melanoma and neuroblastoma cell lines stably overexpressing wild-type (WT), catalytically inactive (D508N) and N-terminal mutants, or shRNA against ATP13A2.
|
28334751 |
2017 |
|
rs781049584
|
|
Neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Experimentally, increased PP2Ac-Yp307 was observed in mouse N2a neuroblastoma cells that stably express the human amyloid precursor protein with Swedish mutation (APPswe) compared with wild-type, and in the brains of transgenic APPswe/ presenilin (PS1, A246E) mice, which corresponded to the increased tau phosphorylation.
|
18208556 |
2008 |
|
rs780294601
|
|
Neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
A heterozygous missense mutation in STK11 (F354L) was identified in both the NB and FVPTC.
|
25751324 |
2015 |
|
rs777949955
|
|
Neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
We detected this interaction both in spinal cord extracts of mutant SOD1(G93A) transgenic mice and in cultured neuroblastoma cells.
|
17403032 |
2007 |
|
rs775144154
|
|
Neuroblastoma
|
|
0.020 |
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 |
|
rs775144154
|
|
Neuroblastoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
Our results suggest that mother and child RFC-1 G80A genotypes play a role on the risk of neuroblastoma and nephroblastoma since this polymorphism may impair the intracellular levels of folate, through carrying fewer folate molecules to the cell interior, and thus, the intracellular concentration is not enough to maintain regular DNA synthesis and methylation pathways.
|
25536437 |
2015 |
|
rs774005786
|
|
Neuroblastoma
|
|
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 |
|
rs773249771
|
|
Neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Next, the neuroblastoma cells were transfected with the wild type GRK2 or its dominant negative mutant GRK2-K220R and the inhibition on cAMP level was determined in naïve and agonist-pretreated cells.
|
18395423 |
2008 |
|
rs771723690
|
|
Neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Nevertheless, the G81A/C91T polymorphism, previously implicated in regulating the expression of p73, did not show any significant association with neuroblastoma development.
|
11205839 |
2001 |
|
rs765771575
|
|
Neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Accordingly, the combination of the ALK/MET inhibitor crizotinib and selective HDAC8 inhibitors (3-6 µM PCI-34051 or 10 µM 20a) efficiently killed neuroblastoma cell lines carrying wildtype ALK (SK-N-BE(2)-C, IMR5/75), amplified ALK (NB-1), and those carrying the activating ALK F1174L mutation (Kelly), and, in cells carrying the activating R1275Q mutation (LAN-5), combination treatment decreased viable cell count.
|
29515255 |
2018 |
|
rs7652589
|
|
Neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
In summary, minor alleles rs7652589 and rs1501899 are associated with reduced CaSR expression in neuroblastic tumors and neuroblastoma cell lines in which the CASR gene promoter P2 is not hypermethylated.
|
27862333 |
2017 |
|
rs764929617
|
|
Neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Specifically, apoE4[L28P] promoted the cellular uptake of extracellular amyloid β peptide 42 (Aβ42) by human neuroblastoma SK-N-SH cells as well as by primary mouse neuronal cells and led to increased formation of intracellular reactive oxygen species that persisted for at least 24 h. Furthermore, lipoprotein particles containing apoE4[L28P] induced intracellular reactive oxygen species formation and reduced SK-N-SH cell viability.
|
24644280 |
2014 |
|
rs761051758
|
|
Neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
We detected this interaction both in spinal cord extracts of mutant SOD1(G93A) transgenic mice and in cultured neuroblastoma cells.
|
17403032 |
2007 |
|
rs758594231
|
|
Neuroblastoma
|
|
0.010 |
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 |
|
rs758576072
|
|
Neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Exogenously applied oligomers of the FTD tau-K18 variants (V337M and N279K) were significantly more efficiently taken up by SH-SY5Y neuroblastoma cells than WT tau-K18, suggesting mutation-induced changes in cellular internalization.
|
31338022 |
2019 |