SynthesisPLoS genetics2012
Age-dependent brain gene expression and copy number anomalies in autism suggest distinct pathological processes at young versus mature ages.
Synthesis in PLoS genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 120 papers, 4 of them syntheses that pooled it.
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
120 citing papers in PubMed, 4 syntheses or guidelines pooled it.
- Genomic insights and advanced machine learning: characterizing autism spectrum disorder biomarkers and genetic interactions.Metabolic brain disease · 2024Pooled it
- Blood transcriptomic comparison of individuals with and without autism spectrum disorder: A combined-samples mega-analysis.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2017Pooled it
- Endosomal system genetics and autism spectrum disorders: A literature review.Neuroscience and biobehavioral reviews · 2016Pooled it
- Compared to what? Early brain overgrowth in autism and the perils of population norms.Biological psychiatry · 2013Pooled it
- Copy number variations independently induce autism spectrum disorder.Bioscience reports · 2017Trial
- Modeling maternal immune activation in 3D ex vivo human fetal brain cerebroids reveals IL-17A-driven disruption of cortical development.Nature neuroscience · 2026Article
- 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
- Mitochondrial-Epigenetic Crosstalk in Autism Spectrum Disorder: Linking Cellular Stress to Synaptic Dysfunction and Treatment Resistance.Molecular neurobiology · 2026Review
- Serum Levels of Wnt/β-catenin Pathway Regulators Dkk-1, PORCN, Notum, and Tiki-1 in Children with Autism Spectrum Disorder.Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology · 2026Article
- Analysis of NDNF and SLC1A2 gene expression in the dorsolateral prefrontal cortex of individuals with autism.Frontiers in neuroscience · 2026Article
- Microglia in autism spectrum disorder: heterogeneity, immunometabolism, and synapse-related pathways.Frontiers in immunology · 2026Review
- Mechanisms of brain overgrowth in autism spectrum disorder with macrocephaly.Frontiers in neuroscience · 2025Review
- Astrocytic gatekeeping of neural circuitry and synaptic balance in an autism mouse model: mechanistic insights beyondFrontiers in cell and developmental biology · 2025Article
- Profiling X chromosome genes expression relevant to sex dimorphism in stroke: insights from transcriptomics landscape analysis.Frontiers in genetics · 2025Article
- Protective effects of rosmarinic acid against autistic-like behaviors in a mouse model of maternal separation stress: behavioral and molecular amendments.Naunyn-Schmiedeberg's archives of pharmacology · 2024Article
- Beyond the Spectrum: Subtype-Specific Molecular Insights into Autism Spectrum Disorder Via Multimodal Data Integration.medRxiv : the preprint server for health sciences · 2024Article
- Neuron-Specific Enolase (NSE) as a Biomarker for Autistic Spectrum Disease (ASD).Life (Basel, Switzerland) · 2023Article
- Novel correlative analysis identifies multiple genomic variations impacting ASD with macrocephaly.Human molecular genetics · 2023Article
- Neuron-specific transcriptomic signatures indicate neuroinflammation and altered neuronal activity in ASD temporal cortex.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Neuroinflammation, Energy and Sphingolipid Metabolism Biomarkers Are Revealed by Metabolic Modeling of Autistic Brains.Biomedicines · 2023Article
60 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors.
Funding
Abstract
Autism is a highly heritable neurodevelopmental disorder, yet the genetic underpinnings of the disorder are largely unknown. Aberrant brain overgrowth is a well-replicated observation in the autism literature; but association, linkage, and expression studies have not identified genetic factors that explain this trajectory. Few studies have had sufficient statistical power to investigate whole-genome gene expression and genotypic variation in the autistic brain, especially in regions that display the greatest growth abnormality. Previous functional genomic studies have identified possible alterations in transcript levels of genes related to neurodevelopment and immune function. Thus, there is a need for genetic studies involving key brain regions to replicate these findings and solidify the role of particular functional pathways in autism pathogenesis. We therefore sought to identify abnormal brain gene expression patterns via whole-genome analysis of mRNA levels and copy number variations (CNVs) in autistic and control postmortem brain samples. We focused on prefrontal cortex tissue where excess neuron numbers and cortical overgrowth are pronounced in the majority of autism cases. We found evidence for dysregulation in pathways governing cell number, cortical patterning, and differentiation in young autistic prefrontal cortex. In contrast, adult autistic prefrontal cortex showed dysregulation of signaling and repair pathways. Genes regulating cell cycle also exhibited autism-specific CNVs in DNA derived from prefrontal cortex, and these genes were significantly associated with autism in genome-wide association study datasets. Our results suggest that CNVs and age-dependent gene expression changes in autism may reflect distinct pathological processes in the developing versus the mature autistic prefrontal cortex. Our results raise the hypothesis that genetic dysregulation in the developing brain leads to abnormal regional patterning, excess prefrontal neurons, cortical overgrowth, and neural dysfunction in 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.