Autism Spectrum Disorders
|
0.590 |
Biomarker
|
disease |
BEFREE |
Here we sought to investigate the anatomy and function of the adult retina of Engrailed 2 knockout (En2<sup>-/-</sup>) mice, a model for ASD.
|
30980901 |
2019 |
Autism Spectrum Disorders
|
0.590 |
Biomarker
|
disease |
BEFREE |
As such, En2<sup>-/-</sup> mice display the behavioral deficits and neural impairments characteristic of the core symptoms associated with autism spectrum disorder (ASD).
|
29953887 |
2018 |
Autism Spectrum Disorders
|
0.590 |
Biomarker
|
disease |
BEFREE |
Accordingly, mice lacking the En2 homeodomain (En2<sup>hd/hd</sup>, referred to as En2<sup>-/-</sup>) show molecular, anatomical and behavioral "ASD-like" features.
|
29964155 |
2018 |
Autism Spectrum Disorders
|
0.590 |
Biomarker
|
disease |
BEFREE |
Recently, HCMV infection and engrailed-2 have been reported to be related to the autism spectrum disorder (ASD).
|
28343438 |
2017 |
Autism Spectrum Disorders
|
0.590 |
Biomarker
|
disease |
BEFREE |
Our findings suggest that the arginine variant of the EN2 protein may play an important role in the pathology of ASD.
|
27755371 |
2016 |
Autism Spectrum Disorders
|
0.590 |
Biomarker
|
disease |
CTD_human |
Elevated 5-hydroxymethylcytosine in the Engrailed-2 (EN-2) promoter is associated with increased gene expression and decreased MeCP2 binding in autism cerebellum.
|
25290267 |
2014 |
Autism Spectrum Disorders
|
0.590 |
Biomarker
|
disease |
BEFREE |
Candidate gene approach also suggested association of EN2 with autism spectrum disorder (ASD) in various populations.
|
20050924 |
2010 |
Autism Spectrum Disorders
|
0.590 |
Biomarker
|
disease |
BEFREE |
Further support that EN2 is a possible ASD susceptibility gene requires the identification of a risk allele, a DNA variant that is consistently associated with ASD but is also functional.
|
19615670 |
2009 |
Autism Spectrum Disorders
|
0.590 |
Biomarker
|
disease |
BEFREE |
Together, these data provide further genetic evidence that EN2 might act as an ASD susceptibility locus, and they suggest that a risk allele that perturbs the spatial/temporal expression of EN2 could significantly alter normal brain development.
|
16252243 |
2005 |
Autism Spectrum Disorders
|
0.590 |
AlteredExpression
|
disease |
BEFREE |
Association of the homeobox transcription factor, ENGRAILED 2, 3, with autism spectrum disorder.
|
15024396 |
2004 |
Autism Spectrum Disorders
|
0.590 |
Biomarker
|
disease |
MGD |
|
|
|
Autistic Disorder
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Retinal defects in mice lacking the autism-associated gene Engrailed-2.
|
30980901 |
2019 |
Autistic Disorder
|
0.400 |
PosttranslationalModification
|
disease |
BEFREE |
We previously reported EN-2 overexpression associated with promoter DNA hypermethylation in the autism cerebellum but because traditional DNA methylation methodology cannot distinguish 5-methylcytosine (5-mC) from 5-hmC, we now extend our investigation by quantifying global and gene-specific 5-mC and 5-hmC.
|
25290267 |
2014 |
Autistic Disorder
|
0.400 |
Biomarker
|
disease |
BEFREE |
Together, these results suggest that the normal EN-2 downregulation that signals Purkinje cell maturation during late prenatal and early-postnatal development may not have occurred in some individuals with autism and that the postnatal persistence of EN-2 overexpression may contribute to autism cerebellar abnormalities.
|
23423141 |
2013 |
Autistic Disorder
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Additionally, the WNT2 gene and EN2 gene may act in concert to influence the language development in autism.
|
22522212 |
2012 |
Autistic Disorder
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Linkage analysis and studies on knockout mice support EN2, located on chromosome 7q36.3, as a potential risk locus for autism.
|
20050924 |
2010 |
Autistic Disorder
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Intronic single nucleotide polymorphisms of engrailed homeobox 2 modulate the disease vulnerability of autism in a han chinese population.
|
20523082 |
2010 |
Autistic Disorder
|
0.400 |
Biomarker
|
disease |
CTD_human |
Intronic single nucleotide polymorphisms of engrailed homeobox 2 modulate the disease vulnerability of autism in a han chinese population.
|
20523082 |
2010 |
Autistic Disorder
|
0.400 |
Biomarker
|
disease |
CTD_human |
Increased susceptibility to kainic acid-induced seizures in Engrailed-2 knockout mice.
|
19186208 |
2009 |
Autistic Disorder
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
To investigate whether this finding could be replicated in Chinese Han population, we performed the association study between eight single nucleotide polymorphisms (SNPs) of the EN2 gene and autism in 210 Chinese Han trios, using the family-based association test (FBAT).
|
17948901 |
2008 |
Autistic Disorder
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Studies investigating association between markers at EN2 (chr7q36), a location associated with language disorders, and autism reveal mixed findings.
|
17948868 |
2008 |
Autistic Disorder
|
0.400 |
Biomarker
|
disease |
BEFREE |
Both the UNPHASE and PHASE statistical programs were utilized for evaluating the association of EN2 SNPs with autism based on allelic and genotypic frequencies and haplotype compositions accompanied with the goodness-of-fit method of the chi(2) test.
|
18424904 |
2008 |
Autistic Disorder
|
0.400 |
Biomarker
|
disease |
CTD_human |
En2 knockout mice display neurobehavioral and neurochemical alterations relevant to autism spectrum disorder.
|
16935268 |
2006 |
Autistic Disorder
|
0.400 |
Biomarker
|
disease |
BEFREE |
From this body of work we highlight results from three candidate genes, REELIN (RELN), SEROTONIN TRANSPORTER (5HTT), and ENGRAILED 2 (EN2) and discuss the relevant neuroscience, molecular genetics, and statistical results that suggest involvement of these genes in autism susceptibility.
|
15749247 |
2005 |
Autistic Disorder
|
0.400 |
GeneticVariation
|
disease |
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 |