ArticleMolecular systems biology2015
Cell cycle networks link gene expression dysregulation, mutation, and brain maldevelopment in autistic toddlers.
Article in Molecular systems biology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers, 1 of them a synthesis that pooled it.
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Who cites it
52 citing papers in PubMed, 1 synthesis or guideline pooled it, 102 citations in OpenAlex.
- Genomic insights and advanced machine learning: characterizing autism spectrum disorder biomarkers and genetic interactions.Metabolic brain disease · 2024Pooled it
- MELK is Required for G2/M Phase Progression in Cortical Progenitors: Insights from Rare ASD-Associated Variants.Cellular and molecular neurobiology · 2026Article
- Deciphering Cell Cycle Dynamics and Cell States in Single-cell RNA-seq data with SPAE.bioRxiv : the preprint server for biology · 2026Article
- Top2a-dependent neuronal regulation of social behavior and persistent rescue of social deficit through PRC2-mediated epigenetic reprogramming.bioRxiv : the preprint server for biology · 2026Article
- Csde1 Mediates Neurogenesis via Post-transcriptional Regulation of the Cell Cycle.Neuroscience bulletin · 2025Article
- MicroRNA Profiling Identifies Age-Associated MicroRNAs and Potential Biomarkers for Early Diagnosis of Autism.International journal of molecular sciences · 2025Article
- Article
- A 3D approach to understanding heterogeneity in early developing autisms.Molecular autism · 2024Article
- Beyond the Spectrum: Subtype-Specific Molecular Insights into Autism Spectrum Disorder Via Multimodal Data Integration.medRxiv : the preprint server for health sciences · 2024Article
- Embryonic origin of two ASD subtypes of social symptom severity: the larger the brain cortical organoid size, the more severe the social symptoms.Molecular autism · 2024Article
- BRCA1 and ELK-1 regulate neural progenitor cell fate in the optic tectum in response to visual experience inProceedings of the National Academy of Sciences of the United States of America · 2024Article
- Article
- The molecular genetic landscape of human brain size variation.Cell reports · 2023Article
- Novel correlative analysis identifies multiple genomic variations impacting ASD with macrocephaly.Human molecular genetics · 2023Article
- A predictive ensemble classifier for the gene expression diagnosis of ASD at ages 1 to 4 years.Molecular psychiatry · 2023Article
- Artificial intelligence and bioinformatics analyze markers of children's transcriptional genome to predict autism spectrum disorder.Frontiers in neurology · 2023Article
- Top2a promotes the development of social behavior via PRC2 and H3K27me3.Science advances · 2022Article
- Pre-treatment clinical and gene expression patterns predict developmental change in early intervention in autism.Molecular psychiatry · 2021Article
- Gene Regulation Analysis Reveals Perturbations of Autism Spectrum Disorder during Neural System Development.Genes · 2021Article
- Atypical genomic cortical patterning in autism with poor early language outcome.Science advances · 2021Article
Corrections and comments
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Authors and funding
15 authors at 4 institutions in 3 countries.
Funding
Abstract
Genetic mechanisms underlying abnormal early neural development in toddlers with Autism Spectrum Disorder (ASD) remain uncertain due to the impossibility of direct brain gene expression measurement during critical periods of early development. Recent findings from a multi-tissue study demonstrated high expression of many of the same gene networks between blood and brain tissues, in particular with cell cycle functions. We explored relationships between blood gene expression and total brain volume (TBV) in 142 ASD and control male toddlers. In control toddlers, TBV variation significantly correlated with cell cycle and protein folding gene networks, potentially impacting neuron number and synapse development. In ASD toddlers, their correlations with brain size were lost as a result of considerable changes in network organization, while cell adhesion gene networks significantly correlated with TBV variation. Cell cycle networks detected in blood are highly preserved in the human brain and are upregulated during prenatal states of development. Overall, alterations were more pronounced in bigger brains. We identified 23 candidate genes for brain maldevelopment linked to 32 genes frequently mutated in ASD. The integrated network includes genes that are dysregulated in leukocyte and/or postmortem brain tissue of ASD subjects and belong to signaling pathways regulating cell cycle G1/S and G2/M phase transition. Finally, analyses of the CHD8 subnetwork and altered transcript levels from an independent study of CHD8 suppression further confirmed the central role of genes regulating neurogenesis and cell adhesion processes in ASD brain maldevelopment.
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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.