ArticleAutism research : official journal of the International Society for Autism Research2009
Gene expression profiling differentiates autism case-controls and phenotypic variants of autism spectrum disorders: evidence for circadian rhythm dysfunction in severe autism.
Article in Autism research : official journal of the International Society for Autism Research, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01197131 (Investigation of Urinary Steroid Metabolites in Children With Autism Spectrum Disorder), which is not on this map. Cited by 113 papers, 2 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.
The trial behind it
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.
Investigation of Urinary Steroid Metabolites in Children With Autism Spectrum Disorder
Who cites it
113 citing papers in PubMed, 2 syntheses or guidelines pooled it, 198 citations in OpenAlex.
- Meta-Analysis of Gene Expression in Autism Spectrum Disorder.Autism research : official journal of the International Society for Autism Research · 2015Pooled it
- An autism case history to review the systematic analysis of large-scale data to refine the diagnosis and treatment of neuropsychiatric disorders.Biological psychiatry · 2015Pooled it
- Long-Term Efficacy and Safety of Pediatric Prolonged-Release Melatonin for Insomnia in Children with Autism Spectrum Disorder.Journal of child and adolescent psychopharmacology · 2018Trial
- Peripheral blood mononuclear cell proteomic profiling reveals cytoskeletal- and chromatin-associated protein signatures in autism spectrum disorder.Brain, behavior, & immunity - health · 2026Article
- Circadian Phase Modulates Embryonic Susceptibility to Bisphenol A-Induced ASD-Related Behavioral Alterations viaToxics · 2026Article
- Genome-Wide DNA Methylation Profiling of Peripheral Blood Mononuclear Cells Reveals Epigenetic Signatures in Autism Spectrum Disorder.International journal of molecular sciences · 2026Article
- Synchronisation of circadian timing in families and the impact of autism: a scoping review.Journal of neurodevelopmental disorders · 2026Article
- Beyond Protein Building Blocks: A Review of Biological Roles and Therapeutic Potential of Free Amino Acids.International journal of molecular sciences · 2025Review
- Autism Spectrum Disorder: The Cerebellum, Genes, and Pathways.Neurology international · 2025Review
- Outcome of Sleep Rehabilitation in Autistic Children with Sleep Disorders Is Linked to Melatonin Receptor Genes SNPs.International journal of molecular sciences · 2025Article
- Machine learning of clinical phenotypes facilitates autism screening and identifies novel subgroups with distinct transcriptomic profiles.Scientific reports · 2025Article
- Autism spectrum disorder and the role of nuclear hormone receptors: insights and therapeutic implications.Frontiers in neuroscience · 2025Review
- Circadian desynchrony in early life leads to enduring autistic-like behavioral changes in adulthood.Communications biology · 2024Article
- Investigation of chimeric transcripts derived from LINE-1 and Alu retrotransposons in cerebellar tissues of individuals with autism spectrum disorder (ASD).Scientific reports · 2024Article
- Sleep and Autism: Current Research, Clinical Assessment, and Treatment Strategies.Focus (American Psychiatric Publishing) · 2024Article
- Diversity and Classification of Genetic Variations in Autism Spectrum Disorder.International journal of molecular sciences · 2023Review
- Melatonin in Neurodevelopmental Disorders: A Critical Literature Review.Antioxidants (Basel, Switzerland) · 2023Review
- Circadian Regulation of the Neuroimmune Environment Across the Lifespan: From Brain Development to Aging.Journal of biological rhythms · 2023Review
- Investigation of autism-related transcription factors underlying sex differences in the effects of bisphenol A on transcriptome profiles and synaptogenesis in the offspring hippocampus.Biology of sex differences · 2023Article
- RNA sequencing of blood from sex- and age-matched discordant siblings supports immune and transcriptional dysregulation in autism spectrum disorder.Scientific reports · 2023Article
53 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
9 authors at 2 institutions in 1 country.
Funding
Abstract
Autism spectrum disorders (ASD) are neurodevelopmental disorders characterized by delayed/abnormal language development, deficits in social interaction, repetitive behaviors and restricted interests. The heterogeneity in clinical presentation of ASD, likely due to different etiologies, complicates genetic/biological analyses of these disorders. DNA microarray analyses were conducted on 116 lymphoblastoid cell lines (LCL) from individuals with idiopathic autism who are divided into three phenotypic subgroups according to severity scores from the commonly used Autism Diagnostic Interview-Revised questionnaire and age-matched, nonautistic controls. Statistical analyses of gene expression data from control LCL against that of LCL from ASD probands identify genes for which expression levels are either quantitatively or qualitatively associated with phenotypic severity. Comparison of the significant differentially expressed genes from each subgroup relative to the control group reveals differentially expressed genes unique to each subgroup as well as genes in common across subgroups. Among the findings unique to the most severely affected ASD group are 15 genes that regulate circadian rhythm, which has been shown to have multiple effects on neurological as well as metabolic functions commonly dysregulated in autism. Among the genes common to all three subgroups of ASD are 20 novel genes mostly in putative noncoding regions, which appear to associate with androgen sensitivity and which may underlie the strong 4:1 bias toward affected males.
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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.