Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863225281
rs863225281
ALK
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

dbSNP: rs113994087
rs113994087
ALK
0.100 GeneticVariation BEFREE The R1275Q neuroblastoma mutant and certain ATP-competitive inhibitors stabilize alternative activation loop conformations of anaplastic lymphoma kinase. 22932897

2012

dbSNP: rs121912438
rs121912438
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

dbSNP: rs281864719
rs281864719
ALK
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

dbSNP: rs281864719
rs281864719
ALK
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

dbSNP: rs863225281
rs863225281
ALK
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

dbSNP: rs863225281
rs863225281
ALK
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

dbSNP: rs113994087
rs113994087
ALK
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

dbSNP: rs113994087
rs113994087
ALK
0.100 GeneticVariation BEFREE We detected the ALK mutation (F1174C and R1275Q) in 2 (3.7%) of the 54 NB specimens. 21940108

2011

dbSNP: rs121912438
rs121912438
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

dbSNP: rs281864719
rs281864719
ALK
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

dbSNP: rs863225281
rs863225281
ALK
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

dbSNP: rs121912438
rs121912438
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

dbSNP: rs281864719
rs281864719
ALK
0.100 GeneticVariation BEFREE The neuroblastoma-associated F1174L ALK mutation causes resistance to an ALK kinase inhibitor in ALK-translocated cancers. 21030459

2010

dbSNP: rs281864719
rs281864719
ALK
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

dbSNP: rs863225281
rs863225281
ALK
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

dbSNP: rs863225281
rs863225281
ALK
0.100 GeneticVariation BEFREE The neuroblastoma-associated F1174L ALK mutation causes resistance to an ALK kinase inhibitor in ALK-translocated cancers. 21030459

2010

dbSNP: rs281864719
rs281864719
ALK
0.100 GeneticVariation BEFREE Furthermore, two human neuroblastoma cell lines harbouring the F1174L</span> mutation were also sensitive to the inhibitor. 18923525

2008

dbSNP: rs863225281
rs863225281
ALK
0.100 GeneticVariation BEFREE Furthermore, two human neuroblastoma cell lines harbouring the F1174L</span> mutation were also sensitive to the inhibitor. 18923525

2008

dbSNP: rs121912438
rs121912438
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

dbSNP: rs121912438
rs121912438
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

dbSNP: rs121912438
rs121912438
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

dbSNP: rs121912438
rs121912438
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

dbSNP: rs121912438
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

dbSNP: rs121912438
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