rs11541242
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Therefore, we predict that L35P mutant, would exhibit loss of angiogenic functions, and hence would correlate with ALS while K60E would not show any loss.
|
22384259 |
2012 |
rs11541242
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Based on our studies, we provide a biological explanation for the loss-of-function of D22G-Angiogenin leading to ALS, and suggest that the L35P-Angiogenin mutation would probably cause ALS symptoms in individuals harboring this mutation.
|
25372031 |
2014 |
rs11701
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The molecular analysis of the ANG gene also demonstrated an allelic association with the rs11701 single nucleotide polymorphism (SNP) in familial ALS (FALS) but not in SALS patients.
|
17703939 |
2008 |
rs11701
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The ANG rs11701 polymorphism was not associated with risk for ALS, FALS or SALS.
|
26753798 |
2016 |
rs11701
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Potentially causative missense variations in the ANG gene and a positive association with the synonymous rs11701-G substitution was detected mainly in Irish and Scottish ALS patients.
|
17462671 |
2007 |
rs11701
|
|
|
0.040 |
GeneticVariation |
BEFREE |
We did not observe an association between patients with ALS and the rs11701 polymorphism, as previously reported in certain ALS populations of other ethnic origins.
|
18852347 |
2008 |
rs121909536
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Accumulation of TDP-43 and alpha-actin in an amyotrophic lateral sclerosis patient with the K17I ANG mutation.
|
19449021 |
2009 |
rs121909536
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Analysis of pooled odds ratios (ORs) and 95 % confidence intervals (CIs) revealed that the ANG K17I variant increases the risk for ALS (AT vs. AA: OR 2.65, 95 % CI 1.05-6.66, p = 0.038) and familial ALS (FALS) (AT vs. AA: OR 11.81, 95 % CI 2.11-66.15, p = 0.005) but not for sporadic ALS (SALS) (AT vs. AA: OR 1.63, 95 % CI 0.55-4.82, p = 0.378).
|
26255299 |
2015 |
rs121909536
|
|
|
0.030 |
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
|
|
|
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 |
rs141055235
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Lack of unique neuropathology in amyotrophic lateral sclerosis associated with p.K54E angiogenin (ANG) mutation.
|
23228179 |
2013 |
rs17560
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Therefore, we predict that L35P mutant, would exhibit loss of angiogenic functions, and hence would correlate with ALS while K60E would not show any loss.
|
22384259 |
2012 |
rs774017767
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Variants K17I, S28N, P112L and V113I have confirmed association with ALS, while T195C and A238G single nucleotide polymorphisms (SNPs) encoding L35P and K60E mutants respectively, have not been associated with ALS.
|
22384259 |
2012 |