|
rs9653226
|
|
Neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
The results showed that only rs57961569 G>A was associated with neuroblastoma risk (GA vs GG: adjusted odds ratio =0.76, 95% confidence interval =0.60-0.98, <i>P</i>=0.033), while the other 3 SNPs were not (rs9653226 T>C, rs13034994 A>G, and rs60226897 G>A).
|
29997440 |
2018 |
|
rs938050921
|
|
Neuroblastoma
|
|
0.010 |
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 |
|
rs9295536
|
|
Neuroblastoma
|
|
0.830 |
GeneticVariation
|
BEFREE |
We confirmed that CASC15 rs6939340 A>G, rs4712653 T>C, rs9295536 C>A, LIN28B rs221634 A>T, and LMO1 rs110419 A>G were associated with significantly altered neuroblastoma susceptibility.
|
29024823 |
2017 |
|
rs9295536
|
|
Neuroblastoma
|
|
0.830 |
GeneticVariation
|
BEFREE |
In this case-control study, we analyzed the association between three single nucleotide polymorphisms (SNPs) in the <i>CASC15</i> gene (rs6939340 A>G, rs4712653 T>C, and rs9295536 C>A) and neuroblastoma susceptibility in the Guangdong and Henan populations of China.
|
29207648 |
2017 |
|
rs9295536
|
|
Neuroblastoma
|
|
0.830 |
GeneticVariation
|
BEFREE |
The protective association between variant allele and neuroblastoma susceptibility was also observed for the rs4712653 and rs9295536 polymorphisms.
|
26307394 |
2016 |
|
rs915927
|
|
Neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Herein, we conducted a case-control study with 393 neuroblastoma patients and 812 controls to explore the association of <i>XRCC1</i> gene polymorphisms (rs1799782 G>A, rs25487 C>T, rs25489 C>T and rs915927 T>C) with neuroblastoma risk.
|
30362960 |
2018 |
|
rs879255652
|
|
Neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
The E1483K mutation causing mild epilepsy showed no significant biophysical changes, whereas the R1872W mutation causing severe epilepsy induced clear gain-of-function biophysical changes in neuroblastoma cells.
|
30615093 |
2019 |
|
rs878854066
|
|
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 |
|
rs874945
|
|
Neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
The authors found that the rs12826786 C>T (P =.013), rs874945 C>T (P =.020), and rs1899663 C>A (P =.029) polymorphisms were significantly associated with increased neuroblastoma risk.
|
29603181 |
2018 |
|
rs873601
|
|
Neuroblastoma
|
|
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 |
|
rs869312966
|
|
Neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
In contrast, the R1620L mutation associated with intellectual disability and autism-but not epilepsy-reduced Na+ current density in neuroblastoma cells and expectedly decreased neuronal firing.
|
30615093 |
2019 |
|
rs867182279
|
|
Neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
The most frequent ALK mutations in neuroblastoma cause amino acid substitutions (F1174L and R1275Q) in the intracellular tyrosine kinase domain of the intact ALK receptor.
|
22072639 |
2011 |
|
rs863225285
|
|
Neuroblastoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
Our results show that the Y1278S mutant observed in patients with neuroblastoma harbors gain-of-function activity.
|
29084134 |
2017 |
|
rs863225285
|
|
Neuroblastoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
Herein, we have illustrated the dynamic conformational property of wild-type ALK as well as the kinase activation equilibrium variation induced by two neuroblastoma mutations (R1275Q and Y1278S) and ATP binding by performing enhanced sampling accelerated Molecular Dynamics (aMD) simulations.
|
29638111 |
2018 |
|
rs863225281
|
|
Neuroblastoma
|
|
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
|
|
Neuroblastoma
|
|
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
|
|
Neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Intrinsic susceptibility-MRI could thus potentially provide a non-invasive and clinically-exploitable method to help identifying children with MYCN-driven neuroblastoma harboring the ALK(F1174L) mutation at the time of diagnosis.
|
24667968 |
2014 |
|
rs863225281
|
|
Neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Expression of MYCN or ALK(F1174L), one of the oncogenic ALK variants identified in primary neuroblastomas, enabled these cells to grow independently of c-MycER(T) activity in vitro and caused formation of neuroblastoma-like tumors in vivo in contrast to parental JoMa1 cells and JoMa1 cells-expressing TrkA or GFP.
|
22484425 |
2013 |
|
rs863225281
|
|
Neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Here, we report similar basal patterns of ALK phosphorylation between the neuroblastoma IMR-32 cell line, which expresses only the wild-type receptor (ALK(WT)), and the SH-SY5Y cell line, which exhibits a heterozygous ALK F1174L mutation and expresses both ALK(WT) and ALK(F1174L) receptors.
|
22479414 |
2012 |
|
rs863225281
|
|
Neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
The most frequent ALK mutations in neuroblastoma cause amino acid substitutions (F1174L and R1275Q) in the intracellular tyrosine kinase domain of the intact ALK receptor.
|
22072639 |
2011 |
|
rs863225281
|
|
Neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Activating mutations within the full-length ALK kinase domain, most commonly R1275Q and F1174L, which play a major role in neuroblastoma, were recently identified.
|
20632993 |
2010 |
|
rs863225281
|
|
Neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Targeted ALK(F1174L) and MYCN coexpression revealed a strong synergism in inducing neuroblastoma with minimal chromosomal aberrations, suggesting that fewer secondary hits are required for tumor induction if both oncoproteins are targeted.
|
22764207 |
2012 |
|
rs863225281
|
|
Neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
The two most frequent mutations, ALK-F1174L and ALK-R1275Q, contribute to NB tumorigenesis in mouse models, and cooperate with MYCN in the oncogenic process.
|
24947326 |
2014 |
|
rs863225281
|
|
Neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Altogether, we report for the first time that the expression of the human ALK-F1174L mutation in NCCs during embryonic development profoundly disturbs early sympathetic progenitor differentiation, in addition to increasing their proliferation, both mechanisms being potential crucial events in NB oncogenesis.
|
31058082 |
2019 |
|
rs863225281
|
|
Neuroblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Furthermore, two human neuroblastoma cell lines harbouring the F1174L</span> mutation were also sensitive to the inhibitor.
|
18923525 |
2008 |