ArticleMolecular autism2013
Evidence for differential alternative splicing in blood of young boys with autism spectrum disorders.
Article in Molecular autism, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
What it found
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Who cites it
39 citing papers in PubMed, 68 citations in OpenAlex.
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- Integrative gene and isoform co-expression networks reveal regulatory rewiring in stress-related psychiatric disorders.iScience · 2025Article
- Sex-dependent epigenetic disruption of YY1 binding by prenatal BPA exposure downregulates Matr3 and alters Agap1 splicing in the offspring hippocampus.Biology of sex differences · 2025Article
- Dysregulated RNA-binding proteins and alternative splicing: Emerging roles in autism spectrum disorder.Molecules and cells · 2025Review
- Prenatal exposure to bisphenol A disrupts RNA splicing in the prefrontal cortex and promotes behaviors related to autism in offspring.Scientific reports · 2025Article
- mAutism research : official journal of the International Society for Autism Research · 2025Article
- Alternative splicing analysis in a Spanish ASD (Autism Spectrum Disorders) cohort: in silico prediction and characterization.Scientific reports · 2025Article
- Landscape of alternative splicing and polyadenylation during growth and development of muscles in pigs.Communications biology · 2024Article
- NRF2, KEAP1 and GSK-3 levels in autism spectrum disorder: a case control study.International journal of developmental disabilities · 2024Article
- Spatiotemporal expression and coexpression patterns of SRPK1 in the human brain: A neurodevelopmental perspective.Brain and behavior · 2024Article
- RNA sequencing of peripheral blood in amyotrophic lateral sclerosis reveals distinct molecular subtypes: Considerations for biomarker discovery.Neuropathology and applied neurobiology · 2023Article
- Parental occupational exposure to solvents and autism spectrum disorder: An exploratory look at gene-environment interactions.Environmental research · 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
- De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes.Human mutation · 2022Article
- Superoxide dismutase isozymes in cerebral organoids from autism spectrum disorder patients.Journal of neural transmission (Vienna, Austria : 1996) · 2022Article
- Mind the translational gap: using iPS cell models to bridge from genetic discoveries to perturbed pathways and therapeutic targets.Molecular autism · 2021Review
- Genome-Wide Association and Mendelian Randomization Analysis Reveal the Causal Relationship Between White Blood Cell Subtypes and Asthma in Africans.Frontiers in genetics · 2021Article
- Protein Biomarkers of Autism Spectrum Disorder Identified by Computational and Experimental Methods.Frontiers in psychiatry · 2021Article
- Do Fragile X Syndrome and Other Intellectual Disorders Converge at Aberrant Pre-mRNA Splicing?Frontiers in psychiatry · 2021Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 2 countries.
Funding
Abstract
backgroundSince RNA expression differences have been reported in autism spectrum disorder (ASD) for blood and brain, and differential alternative splicing (DAS) has been reported in ASD brains, we determined if there was DAS in blood mRNA of ASD subjects compared to typically developing (TD) controls, as well as in ASD subgroups related to cerebral volume.
methodsRNA from blood was processed on whole genome exon arrays for 2-4-year-old ASD and TD boys. An ANCOVA with age and batch as covariates was used to predict DAS for ALL ASD (n=30), ASD with normal total cerebral volumes (NTCV), and ASD with large total cerebral volumes (LTCV) compared to TD controls (n=20).
resultsA total of 53 genes were predicted to have DAS for ALL ASD versus TD, 169 genes for ASD_NTCV versus TD, 1 gene for ASD_LTCV versus TD, and 27 genes for ASD_LTCV versus ASD_NTCV. These differences were significant at P <0.05 after false discovery rate corrections for multiple comparisons (FDR <5% false positives). A number of the genes predicted to have DAS in ASD are known to regulate DAS (SFPQ, SRPK1, SRSF11, SRSF2IP, FUS, LSM14A). In addition, a number of genes with predicted DAS are involved in pathways implicated in previous ASD studies, such as ROS monocyte/macrophage, Natural Killer Cell, mTOR, and NGF signaling. The only pathways significant after multiple comparison corrections (FDR <0.05) were the Nrf2-mediated reactive oxygen species (ROS) oxidative response (superoxide dismutase 2, catalase, peroxiredoxin 1, PIK3C3, DNAJC17, microsomal glutathione S-transferase 3) and superoxide radical degradation (SOD2, CAT).
conclusionsThese data support differences in alternative splicing of mRNA in blood of ASD subjects compared to TD controls that differ related to head size. The findings are preliminary, need to be replicated in independent cohorts, and predicted alternative splicing differences need to be confirmed using direct analytical methods.
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Registered trials
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