Autistic Disorder
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
Association of the homeobox transcription factor, ENGRAILED 2, 3, with autism spectrum disorder.
|
15024396 |
2004 |
Autistic Disorder
|
0.400 |
Biomarker
|
disease |
CTD_human |
Association of the homeobox transcription factor, ENGRAILED 2, 3, with autism spectrum disorder.
|
15024396 |
2004 |
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 |
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 |
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 |
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 |
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 |
Increased susceptibility to kainic acid-induced seizures in Engrailed-2 knockout mice.
|
19186208 |
2009 |
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Retinal defects in mice lacking the autism-associated gene Engrailed-2.
|
30980901 |
2019 |