ArticleMolecular psychiatry2004
Association of the homeobox transcription factor, ENGRAILED 2, 3, with autism spectrum disorder.
Article in Molecular psychiatry, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 99 papers, 2 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
99 citing papers in PubMed, 2 syntheses or guidelines pooled it, 216 citations in OpenAlex.
- The prevalence of autism in cerebellar malformations: a systematic review and meta-analysis.Journal of neurodevelopmental disorders · 2026Pooled it
- A heterogeneity-based genome search meta-analysis for autism-spectrum disorders.Molecular psychiatry · 2006Pooled it
- Multi-omic data integration improves the resolution of the molecular etiology of autism in a mouse model.Molecular psychiatry · 2026Article
- Lcn2 deficiency leads to long-lasting social impairments independent of maternal immune activation.Journal of neuroinflammation · 2026Article
- In utero rescue of neurological dysfunction in a mouse model of Wiedemann-Steiner syndrome.JCI insight · 2025Article
- Autism Spectrum Disorder: The Cerebellum, Genes, and Pathways.Neurology international · 2025Review
- TLX3 regulates CGN progenitor proliferation during cerebellum development and its dysfunction can lead to autism.iScience · 2024Article
- Engrailed-2 and inflammation convergently and independently impinge on cerebellar Purkinje cell differentiation.Journal of neuroinflammation · 2024Article
- Leveraging interindividual variability in threat conditioning of inbred mice to model trait anxiety.PLoS biology · 2024Article
- Glial cells are affected more than interneurons by the loss of Engrailed 2 gene in the mouse cerebellum.Journal of anatomy · 2024Article
- Cortex-restricted deletion of Foxp1 impairs barrel formation and induces aberrant tactile responses in a mouse model of autism.Molecular autism · 2023Article
- Implication of Hippocampal Neurogenesis in Autism Spectrum Disorder: Pathogenesis and Therapeutic Implications.Current neuropharmacology · 2023Review
- Genetics of glutamate and its receptors in autism spectrum disorder.Molecular psychiatry · 2022Review
- The Cerebellar Involvement in Autism Spectrum Disorders: From the Social Brain to Mouse Models.International journal of molecular sciences · 2022Review
- Gene by environment interaction mouse model reveals a functional role for 5-hydroxymethylcytosine in neurodevelopmental disorders.Genome research · 2022Article
- Parvalbumin and parvalbumin chandelier interneurons in autism and other psychiatric disorders.Frontiers in psychiatry · 2022Review
- Article
- Review
- Cortico-Cerebellar Hyper-Connections and Reduced Purkinje Cells Behind Abnormal Eyeblink Conditioning in a Computational Model of Autism Spectrum Disorder.Frontiers in systems neuroscience · 2021Article
- GABAergic System Dysfunction in Autism Spectrum Disorders.Frontiers in cell and developmental biology · 2021Review
39 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mouse mutants of the homeobox transcription factor Engrailed2 (En2) and autistic individuals display similar cerebellar morphological abnormalities, which include hypoplasia and a decrease in the number of Purkinje cells. Human EN2 maps to 7q36, a chromosomal region that has demonstrated suggestive linkage to autism spectrum disorder (ASD). To investigate EN2 for evidence of association with ASD, four single-nucleotide polymorphisms (SNPs) (rs3735653, rs1861972, rs1861973, rs2361689) that span the majority of the 8.0 kb gene were assessed by the transmission/disequilibrium test. Initially, 138 triads of autistic individuals and their parents were tested. Two intronic SNPs (rs1861972 and rs1861973) demonstrated significant association with autism (rs1861972, P=0.0018; rs1861973, P=0.0003; haplotype, P=0.000005). Flanking exonic SNPs (rs3735653 and rs2361689) did not display association. This analysis was then extended to include 167 small nuclear ASD pedigrees and significant association was again only observed for rs1861972 and rs1861973 under both the narrow and broad diagnostic criteria (narrow: rs1861972 P=0.0290, rs1861973 P=0.0073, haplotype P=0.0009; broad: rs1861972 P=0.0175, rs1861973 P=0.0107, haplotype P=0.0024). These data demonstrate association between a cerebellar patterning gene and ASD, suggesting a role for EN2 as a susceptibility locus and supporting a neurodevelopmental defect hypothesis in the etiology of autism.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.