ArticlePloS one2015
Whole-Exome Sequencing in a South American Cohort Links ALDH1A3, FOXN1 and Retinoic Acid Regulation Pathways to Autism Spectrum Disorders.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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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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Who cites it
20 citing papers in PubMed, 34 citations in OpenAlex.
- Phenotypic Complexity and Diagnostic Utility of Exome Sequencing in ASD: Real-World Insights from Colombia.International journal of molecular sciences · 2026Article
- Retinoic acid in health and disease.Signal transduction and targeted therapy · 2026Review
- Anti-asthma drug montelukast induces autistic behaviors via disrupting neuronal retinoic acid signaling.Signal transduction and targeted therapy · 2026Article
- Association of the retinol to all-trans retinoic acid pathway with autism spectrum disorder.World journal of pediatrics : WJP · 2024Article
- Estimating the Prevalence of De Novo Monogenic Neurodevelopmental Disorders from Large Cohort Studies.Biomedicines · 2022Article
- Molecular mechanisms of synaptogenesis.Frontiers in synaptic neuroscience · 2022Review
- Article
- Autism Spectrum Disorder: Signaling Pathways and Prospective Therapeutic Targets.Cellular and molecular neurobiology · 2021Review
- Role of carotenoids and retinoids during heart development.Biochimica et biophysica acta. Molecular and cell biology of lipids · 2020Review
- Review
- Impaired neurodevelopmental pathways in autism spectrum disorder: a review of signaling mechanisms and crosstalk.Journal of neurodevelopmental disorders · 2019Review
- Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity.Nature genetics · 2019Article
- Article
- Dysregulation of Th1, Th2, Th17, and T regulatory cell-related transcription factor signaling in children with autism.Molecular neurobiology · 2017Article
- Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.Nature neuroscience · 2017Article
- denovo-db: a compendium of human de novo variants.Nucleic acids research · 2017Article
- Language Impairments in ASD Resulting from a Failed Domestication of the Human Brain.Frontiers in neuroscience · 2016Article
- Genetics of Autism Spectrum Disorder: Current Status and Possible Clinical Applications.Experimental neurobiology · 2015Review
- The Pivotal Role of Aldehyde Toxicity in Autism Spectrum Disorder: The Therapeutic Potential of Micronutrient Supplementation.Nutrition and metabolic insights · 2015Article
- Role of Nuclear Receptors in Central Nervous System Development and Associated Diseases.Journal of experimental neuroscience · 2015Review
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autism spectrum disorders (ASDs) are a range of complex neurodevelopmental conditions principally characterized by dysfunctions linked to mental development. Previous studies have shown that there are more than 1000 genes likely involved in ASD, expressed mainly in brain and highly interconnected among them. We applied whole exome sequencing in Colombian-South American trios. Two missense novel SNVs were found in the same child: ALDH1A3 (RefSeq NM_000693: c.1514T>C (p.I505T)) and FOXN1 (RefSeq NM_003593: c.146C>T (p.S49L)). Gene expression studies reveal that Aldh1a3 and Foxn1 are expressed in ~E13.5 mouse embryonic brain, as well as in adult piriform cortex (PC; ~P30). Conserved Retinoic Acid Response Elements (RAREs) upstream of human ALDH1A3 and FOXN1 and in mouse Aldh1a3 and Foxn1 genes were revealed using bioinformatic approximation. Chromatin immunoprecipitation (ChIP) assay using Retinoid Acid Receptor B (Rarb) as the immunoprecipitation target suggests RA regulation of Aldh1a3 and Foxn1 in mice. Our results frame a possible link of RA regulation in brain to ASD etiology, and a feasible non-additive effect of two apparently unrelated variants in ALDH1A3 and FOXN1 recognizing that every result given by next generation sequencing should be cautiously analyzed, as it might be an incidental finding.
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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.