ReviewProgress in neuro-psychopharmacology & biological psychiatry2019
Regulatory genes and pathways disrupted in autism spectrum disorders.
Review in Progress in neuro-psychopharmacology & biological psychiatry, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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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Who cites it
24 citing papers in PubMed, 44 citations in OpenAlex.
- Diversity of molecular karyotypes of 234 pediatric patients with autism spectrum disorder in chromosomal microarray analysis.BMC psychiatry · 2026Article
- Exploring the potential of the ketogenic diet in autism spectrum disorder: metabolic, genetic, and therapeutic insights.Metabolic brain disease · 2025Review
- Investigation of the underlying factor structures of social interaction impairments in children diagnosed with autism spectrum disorder at autism centers, Addis Ababa, Ethiopia: principal component analysis of the autism treatment evaluation checklists.The Pan African medical journal · 2025Article
- Peripheral IL-6/IL-17/NF-κB1 and IL-10 Signaling in Children with Autism Spectrum Disorder: Integrative Transcriptomic Analysis and qRT-PCR Validation.Medical journal of the Islamic Republic of Iran · 2025Article
- Landscape of intrinsically disordered proteins in mental disorder diseases.Computational and structural biotechnology journal · 2024Article
- Genome Sequencing Identifies 13 Novel Candidate Risk Genes for Autism Spectrum Disorder in a Qatari Cohort.International journal of molecular sciences · 2024Article
- Proximity analysis of native proteomes reveals phenotypic modifiers in a mouse model of autism and related neurodevelopmental conditions.Nature communications · 2024Article
- Defining cis-regulatory elements and transcription factors that control human cortical interneuron development.iScience · 2024Article
- The CHD Protein Kismet Restricts the Synaptic Localization of Cell Adhesion Molecules at theInternational journal of molecular sciences · 2024Article
- Review
- Article
- Association of NEF2L2 Rs35652124 Polymorphism with Nrf2 Induction and Genotoxic Stress Biomarkers in Autism.Genes · 2023Article
- Recent Developments in Autism Genetic Research: A Scientometric Review from 2018 to 2022.Genes · 2022Review
- Article
- Massively parallel reporter assays discover de novo exonic splicing mutants in paralogs of Autism genes.PLoS genetics · 2022Article
- X Chromosome Inactivation Timing is Not eFrontiers in genetics · 2022Article
- Autism in Three Dimensions: Using Brain Organoids to Study Potential Gene-Environment Interactions.Environmental health perspectives · 2021Article
- Genetic contributions to autism spectrum disorder.Psychological medicine · 2021Review
- A Maternal High-Fat Diet during Early Development Provokes Molecular Changes Related to Autism Spectrum Disorder in the Rat Offspring Brain.Nutrients · 2021Article
- Gene-Environment Interactions in Developmental Neurotoxicity: a Case Study of Synergy between Chlorpyrifos and CHD8 Knockout in Human BrainSpheres.Environmental health perspectives · 2021Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
Autism spectrum disorder (ASD) is a highly prevalent and complex genetic disorder. The complex genetic make-up of ASD has been extensively studied and both common and rare genetic variants in up to 1000 genes have been linked to increased ASD risk. While these studies highlight the genetic complexity and begin to provide a window for delineating pathways at risk in ASD, the pathogenicity and specific contribution of many mutations to the disorder are poorly understood. Defining the convergent pathways disrupted by this large number of ASD-associated genetic variants will help to understand disease pathogenesis and direct future therapeutic efforts for the groups of patients with distinct etiologies. Here, we review some of the common regulatory pathways including chromatin remodeling, transcription, and alternative splicing that have emerged as common features from genetic and transcriptomic profiling of ASD. For each category, we focus on one gene (CHD8, FOXP1, and RBFOX1) that is significantly linked to ASD and functionally characterized in recent years. Finally, we discuss genetic and transcriptomic overlap between ASD and other neurodevelopmental disorders.
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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.