|
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 |
|
rs113488022
|
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
To explore the mutation frequencies of BRAF(V600E) (V-raf murine sarcoma virus oncogene homolog B1) and NRAS (neuroblastoma ras viral oncogene homolog) codon 61 in CMNs of Chinese, we selected 55 paraffin-embedded tissue blocks, including 37 cases of medium CMNs (1.5-20cm) and 18 cases of giant CMNs (>20 cm).
|
21430505 |
2011 |
|
rs11615
|
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
The results showed that ERCC1 rs2298881 and rs11615 predisposed to enhanced neuroblastoma risk [CA vs. AA: adjusted odds ratio (OR)=1.94, 95% confidence interval (CI)=1.30-2.89, P=0.0012; CC vs. AA: adjusted OR=2.18, 95% CI=1.45-3.26, P=0.0002 for rs2298881, and AG vs. GG: adjusted OR=1.31, 95% CI=1.02-1.69, P=0.038 for rs11615].
|
29544698 |
2018 |
|
rs11669203
|
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
The SNP rs11669203 located at the MYCN binding site of TGFBR3L is significantly associated with elevated risk of NB, and abnormal MYCN-regulated TGFBR3L expression may contribute to NB oncogenesis.
|
26468016 |
2016 |
|
rs1211164799
|
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
The influence of PS1 mutations on the generation of endogenous intracellular amyloid beta-protein (A beta) species was assessed using a highly sensitive immunoblotting technique with inducible mouse neuroblastoma (Neuro 2a) cell lines expressing the human wild-type (wt) or mutated PS1 (M146L or delta exon 10).
|
9751187 |
1998 |
|
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 |
|
rs121908531
|
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Confocal and electron microscopic analysis demonstrated that M17 human neuroblastoma cells over-expressing wild-type DJ-1 (WT DJ-1 cells) displayed elongated mitochondria while M17 cells over-expressing PD-associated DJ-1 mutants (R98Q, D149A and L166P) (mutant DJ-1 cells) showed significant increase of fragmented mitochondria.
|
22428580 |
2012 |
|
rs121909536
|
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
We generated SH-SY5Y neuroblastoma cell lines constitutively expressing wild type (WT) Hemagglutinin (HA) epitope tagged mouse Ang1 (mAng1), and two amyotrophic lateral sclerosis associated ANG variants (C39W and K40I).
|
31128105 |
2019 |
|
rs121909539
|
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
We generated SH-SY5Y neuroblastoma cell lines constitutively expressing wild type (WT) Hemagglutinin (HA) epitope tagged mouse Ang1 (mAng1), and two amyotrophic lateral sclerosis associated ANG variants (C39W and K40I).
|
31128105 |
2019 |
|
rs121912452
|
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
We also detected oligomer formation of L84V SOD1 in L84V SOD1-expressing human neuroblastoma cells.
|
20816908 |
2010 |
|
rs121912651
|
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
It remains unclear at this time whether a similar association of NB and R248W in patients with LFS exists.
|
17427234 |
2008 |
|
rs121912664
|
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Our data indicate that in addition to adrenocortical tumors, choroid plexus carcinoma, breast cancer and osteosarcoma, genetic counseling and clinical surveillance should consider neuroblastoma as a potential neoplasia affecting p.R337H carriers.
|
26452166 |
2015 |
|
rs121913377
|
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
To explore the mutation frequencies of BRAF(V600E) (V-raf murine sarcoma virus oncogene homolog B1) and NRAS (neuroblastoma ras viral oncogene homolog) codon 61 in CMNs of Chinese, we selected 55 paraffin-embedded tissue blocks, including 37 cases of medium CMNs (1.5-20cm) and 18 cases of giant CMNs (>20 cm).
|
21430505 |
2011 |
|
rs121964884
|
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Akt induces apoptosis in neuroblastoma cells expressing a C98X vasopressin mutant following autophagy suppression.
|
18673414 |
2008 |
|
rs1231783932
|
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
COS-1 cells doubly transfected with cDNAs for N141I mutant PS2 and human beta-amyloid precursor protein (betaAPP) or a C-terminal fragment thereof, as well as mouse Neuro2a neuroblastoma cells stably transfected with N141I mutant PS2 alone, secreted 1.5- to 10-fold more A beta ending at residues 42 (or 43) [A beta42(43)] compared with those expressing the wild-type PS2.
|
9050898 |
1997 |
|
rs12442054
|
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
One maternal SNP (rs12442054) was associated with decreased risk of neuroblastoma (RR: 0.61; 95% Confidence Interval (CI): 0.47-0.79, Q = 0.076).
|
31279991 |
2019 |
|
rs12587
|
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
We conducted a four-center case-control study to explore the association between <i>KRAS</i> gene polymorphisms (rs12587 G>T, rs7973450 A>G, rs7312175 G>A) and neuroblastoma susceptibility with 505 Chinese children and 1070 matched controls.
|
31564912 |
2019 |
|
rs1273925499
|
|
Central neuroblastoma
|
|
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 |
|
rs12826786
|
|
Central 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 |
|
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 |
|
rs1301478248
|
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
To investigate the cytoprotective physiological function of PINK1, we used primary fibroblasts from three patients homozygous for G309D-PINK1 as well as SHEP neuroblastoma cells stably overexpressing GFP-tagged wild type (wt) PINK1.
|
20045449 |
2010 |
|
rs13034994
|
|
Central 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 |
|
rs13181
|
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here we endeavored to determine the relevance of <i>XPD</i> gene polymorphisms and neuroblastoma susceptibility in Chinese children genotyping three <i>XPD</i> polymorphisms (rs3810366, rs13181 and rs238406) in 505 cases and 1070 controls and assessing their contributions to neuroblastoma risk.
|
30089098 |
2018 |
|
rs1362575880
|
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
The effects of these two mutations on presenilin-1 endoproteolysis and β-amyloid (Aβ) production were examined in SH-SY5Y neuroblastoma cells infected with lentiviruses expressing presenilin-1 wild type (WT), I249L and P433S mutants.
|
31235249 |
2019 |
|
rs138085133
|
|
Central neuroblastoma
|
|
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 |