ArticleMolecular neurobiology2020
Cell-Type-Specific Analysis of Molecular Pathology in Autism Identifies Common Genes and Pathways Affected Across Neocortical Regions.
Article in Molecular neurobiology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
What it found
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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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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
20 citing papers in PubMed, 39 citations in OpenAlex.
- Transcriptomic Convergence in Autism Spectrum Disorder: Synaptic, Immune-Glial and RNA-Regulatory Axes in the Human Cerebral Cortex.International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience · 2026Review
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- Dissecting mammalian cortical circuit development at single-cell resolution using inducible barcoded rabies virus.bioRxiv : the preprint server for biology · 2025Article
- The Long and Winding Road to Understanding Autism.NeuroSci · 2025Review
- Resolution of Lipopolysaccharide-Induced Inflammation Followed by DNA Hypomethylation and Increased Tetrahydrobiopterin Biosynthesis in Mouse Hippocampus.Brain sciences · 2025Article
- Prenatal exposure to bisphenol A disrupts RNA splicing in the prefrontal cortex and promotes behaviors related to autism in offspring.Scientific reports · 2025Article
- 5-mC DNA methylation in neurodevelopment: from molecular mechanisms to therapeutic implications.Molecular biology reports · 2025Review
- Altered projection-specific synaptic remodeling and its modification by oxytocin in an idiopathic autism marmoset model.Communications biology · 2024Article
- Juvenile peripheral LPS exposure overrides female resilience to prenatal VPA effects on adult sociability in mice.Scientific reports · 2024Article
- Review
- Gonadal hormones impart male-biased behavioral vulnerabilities to immune activation via microglial mitochondrial function.Brain, behavior, and immunity · 2024Article
- Review
- Age-differential sexual dimorphisms in CHD8-S62X-mutant mouse synapses and transcriptomes.Frontiers in molecular neuroscience · 2023Article
- Slc6a20a Heterozygous and Homozygous Mutant Mice Display Differential Behavioral and Transcriptomic Changes.Frontiers in molecular neuroscience · 2022Article
- Brain region and gene dosage-differential transcriptomic changes inFrontiers in molecular neuroscience · 2022Article
- Age, brain region, and gene dosage-differential transcriptomic changes inFrontiers in molecular neuroscience · 2022Article
- Review
- Gene Module Analysis Reveals Cell-Type Specificity and Potential Target Genes in Autism's Pathogenesis.Biomedicines · 2021Article
- Early Chronic Memantine Treatment-Induced Transcriptomic Changes in Wild-Type andFrontiers in molecular neuroscience · 2021Article
- Correlation Between CD133+ Stem Cells and Clinical Improvement in Patients with Autism Spectrum Disorders Treated with Intrathecal Bone Marrow-derived Mononuclear Cells.Innovations in clinical neuroscienceArticle
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
Abstract
Despite its heterogeneity, autism is characterized by a defined behavioral phenotype, suggesting that the molecular pathology affects specific neural substrates to cause behavioral dysfunction. Previous studies identified genes dysregulated in autism cortex but did not address their cell-type specificity. Moreover, it is unknown whether there is a core of genes dysregulated across multiple neocortical regions. We applied RNA sequencing to postmortem brain tissue samples from autism patients and neurologically normal controls and combined our data with previously published datasets. We then identified genes, pathways, and alternative splicing events which are dysregulated in five neocortical regions in autism. To gain information about cell-type specificity of the dysregulated genes, we analyzed single-nuclei RNA sequencing data of adult human cortex and intersected cell-type-specific gene signatures with genes dysregulated in autism in specific cortical regions. We found that autism-associated gene expression changes across 4 frontal and temporal cortex regions converge on 27 genes related to immune response and enriched in human astrocytes, microglia, and brain endothelium. Shared splicing changes, however, are found in genes predominantly associated with synaptic function and adult interneurons and projection neurons. Finally, we demonstrate that regions of DNA differentially methylated in autism overlap genes associated with development and enriched in human cortical oligodendrocytes. Our study identifies signatures of autism molecular pathology shared across neocortical regions, as well as neural cell types enriched for common dysregulated genes, thus paving way for assessing cell-type-specific mechanisms of autism pathology.
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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.