|
rs121917893
|
|
|
0.080 |
GeneticVariation |
BEFREE |
These data suggest that increased inhibitory synaptic transmission may contribute to human ASDs and that the R451C knockin mice may be a useful model for studying autism-related behaviors.
|
17823315 |
2007 |
|
rs121917893
|
|
|
0.080 |
GeneticVariation |
BEFREE |
The X-linked NLGN3 gene, encoding a postsynaptic cell adhesion molecule, was involved in a nonsyndromic monogenic form of autism spectrum disorder (ASD) by the description of one unique missense variant, p.Arg451Cys (Jamain et al.2003).
|
31184401 |
2019 |
|
rs121917893
|
|
|
0.080 |
GeneticVariation |
BEFREE |
The neurobiological bases of autism spectrum disorders: the R451C-neuroligin 3 mutation hampers the expression of long-term synaptic depression in the dorsal striatum.
|
28921757 |
2018 |
|
rs121917893
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Both mutated CADM1 and neuroligin 3(R451C) induced upregulation of C/EBP-homologous protein (CHOP), an ER stress marker, suggesting that in addition to the trafficking impairment, this CHOP upregulation may also be involved in ASD pathogenesis.
|
21364653 |
2010 |
|
rs121917893
|
|
|
0.080 |
GeneticVariation |
BEFREE |
The Neuroligin-3 (NL3) mouse, expressing a R451C mutation discovered in two Swedish brothers with ASD, exhibits impaired social interactions and heightened aggressive behavior towards male mice.
|
28255463 |
2017 |
|
rs121917893
|
|
|
0.080 |
GeneticVariation |
BEFREE |
A recent study reported that a mutation of neuroligin-3 (NL3), an X-linked gene, was found in siblings with autistic spectrum disorder in which two affected brothers had a point mutation that substituted a Cys for Arg451.
|
15152050 |
2004 |
|
rs121917893
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Knock-in mice carrying a single rare point mutation of NLGN3 (NLGN3 R451C) discovered in the patients with ASDs display a deficit in social interaction and an enhancement of spatial learning and memory ability reminiscent of the clinical phenotype of ASDs.
|
27743928 |
2017 |
|
rs121917893
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Neuroligin 3 R451C mutation alters electroencephalography spectral activity in an animal model of autism spectrum disorders.
|
28385162 |
2017 |
|
rs1858830
|
|
|
0.070 |
GeneticVariation |
BEFREE |
A promoter functional SNP (rs1858830) that disrupts the transcription of MET has been reported to be strongly associated with autism spectrum disorders (ASD) in the Caucasian population.
|
20615438 |
2010 |
|
rs1858830
|
|
|
0.070 |
GeneticVariation |
BEFREE |
In a sample of 365 mothers, including 202 mothers of children with ASD, the functional MET promoter variant rs1858830 C allele was strongly associated with the presence of an ASD-specific 37+73-kDa band pattern of maternal autoantibodies to fetal brain proteins (P=0.003).
|
22833194 |
2011 |
|
rs1858830
|
|
|
0.070 |
GeneticVariation |
BEFREE |
MeCP2 binds to a region of the MET promoter containing the ASD-risk SNV, and displays rs1858830 genotype-specific binding in human neural progenitor cells derived from the olfactory neuroepithelium.
|
24150225 |
2013 |
|
rs1858830
|
|
|
0.070 |
GeneticVariation |
BEFREE |
MET rs1858830 CC genotype and air pollutant exposure may interact to increase the risk of autism spectrum disorder.
|
24240654 |
2014 |
|
rs1858830
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Replicating our initial findings, family-based association test (FBAT) analyses demonstrated that the MET promoter variant rs1858830 C allele was associated with ASD in 101 new families (P=0.033).
|
19360663 |
2008 |
|
rs1858830
|
|
|
0.070 |
GeneticVariation |
BEFREE |
The MET promoter variant rs1858830 allele "C" is strongly associated with ASD and results in reduced gene transcription.
|
17696172 |
2007 |
|
rs1858830
|
|
|
0.070 |
GeneticVariation |
BEFREE |
In the entire 214-family sample, the MET rs1858830 C allele was associated with both autism</span> spectrum disorder and gastrointestinal conditions.
|
19255034 |
2009 |
|
rs1217691063
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The association between folic acid and reduced ASD risk was strongest for mothers and children with MTHFR 677 C>T variant genotypes.
|
22648721 |
2012 |
|
rs1217691063
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Our study indicated that the MTHFR C677</span>T polymorphism contributes to increased ASD risk, and periconceptional folic acid may reduce ASD risk in those with MTHFR 677C>T polymorphism.
|
23653228 |
2013 |
|
rs1217691063
|
|
|
0.060 |
GeneticVariation |
BEFREE |
We evaluated the association between C677T polymorphism and autism spectrum disorders through a case--control study.
|
20440228 |
2010 |
|
rs1217691063
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The results of the MTHFR gene analysis showed a normal distribution of the C677T polymorphism in children with ASDs, but the frequency of the 677T allele was slightly more prevalent in AD patients.
|
19267885 |
2009 |
|
rs1217691063
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Meta-analyses were carried out on 1361 ASD children and 6591 nonautistic children to explore the association of MTHFR C677T and homocysteine with the risk for ASD.
|
27755291 |
2016 |
|
rs1217691063
|
|
|
0.060 |
GeneticVariation |
BEFREE |
MTHFR (C677T) allele frequency was found to be higher significantly in ASD cases compared with nonautistic children.
|
31033224 |
2019 |
|
rs1861972
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Although our findings were not as robust as the previous studies, they suggest that rs1861972 may influence the risk for autism spectrum disorders.
|
17948868 |
2008 |
|
rs1861972
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Here, we have investigated the association of five markers [rs3735653 (C/T) in exon 1; rs34808376 (GC/-) and rs6150410 (CGCATCCCC/-) in promoter region; rs1861972 (A/G) and rs1861973 (C/T) in the intron] of the gene with autism and ASD in Indian population using family-based approach.
|
20050924 |
2010 |
|
rs1861972
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Previously we demonstrated that an intronic haplotype (rs1861972-rs1861973 A-C) in the homeobox transcription factor ENGRAILED2 (EN2) is significantly associated with ASD.
|
22180456 |
2012 |
|
rs1861972
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Our previous research involving 167 nuclear families from the Autism Genetic Resource Exchange (AGRE) demonstrated that two intronic SNPs, rs1861972 and rs1861973, in the homeodomain transcription factor gene ENGRAILED 2 (EN2) are significantly associated with autism spectrum disorder (ASD).
|
16252243 |
2005 |