ArticleAmerican journal of human genetics2012
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Article in American journal of human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 134 papers, 2 of them syntheses that pooled it.
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Who cites it
134 citing papers in PubMed, 2 syntheses or guidelines pooled it, 214 citations in OpenAlex.
- Neurexin dysfunction in neurodevelopmental and neuropsychiatric disorders: a PRIMSA-based systematic review through iPSC and animal models.Frontiers in behavioral neuroscience · 2024Pooled it
- Genome-wide meta-analysis of copy number variations with alcohol dependence.The pharmacogenomics journal · 2018Pooled it
- Assessing molecular gene by treatment interactions using a population of neural progenitors exposed to valproic acid and lithium.Molecular psychiatry · 2026Article
- Suppression of astrocyte BMP signaling improves molecular signatures and functional deficits in a fragile X syndrome mouse model.Nature communications · 2026Article
- Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of 300 Indian Patients.Indian journal of pediatrics · 2026Article
- Autism Spectrum Disorder: The Cerebellum, Genes, and Pathways.Neurology international · 2025Review
- CONTRASTIVE LINEAR REGRESSION.The annals of applied statistics · 2025Article
- An epigenome-wide association study in the case-control study to explore early development identifies differential DNA methylation near ZFP57 as associated with autistic traits.Journal of neurodevelopmental disorders · 2025Article
- Multi-omics and Mendelian randomization study explores potential therapeutic targets for meningiomas.Discover oncology · 2025Article
- Cell-type-specific roles of FOXP1 in the excitatory neuronal lineage during early neocortical murine development.Cell reports · 2025Article
- Mosaic H3K9me3 at BREACHes predicts synaptic gene expression associated with fragile X syndrome cognitive severity.bioRxiv : the preprint server for biology · 2025Article
- Role of androgen receptors in sexually dimorphic phenotypes in UBE3A-dependent autism spectrum disorder.iScience · 2025Article
- Single-nucleotide polymorphism analysis accurately predicts multiple impairments in hippocampal activity and memory performance in a murine model of idiopathic autism.Scientific reports · 2025Article
- Identifying Key Biomarkers Related to Immune Response in the Progression of Diabetic Kidney Disease: Mendelian Randomization Combined With Comprehensive Transcriptomics and Single-Cell Sequencing Analysis.Journal of inflammation research · 2025Article
- Alpha-neurexins in health and disease.Frontiers in molecular neuroscience · 2025Review
- Neurexin-3a IgG-mediated autoimmune encephalitis: a case report and literature review.Frontiers in immunology · 2025Review
- Exploring the Landscape of Pre- and Post-Synaptic Pediatric Disorders with Epilepsy: A Narrative Review on Molecular Mechanisms Involved.International journal of molecular sciences · 2024Review
- Structural Variants and Implicated Processes Associated with Familial Tourette Syndrome.International journal of molecular sciences · 2024Article
- Sexually dimorphic phenotypes and the role of androgen receptors in UBE3A-dependent autism spectrum disorder.bioRxiv : the preprint server for biology · 2024Article
- Conditional deletion of neurexin-2 impaired behavioral flexibility to alterations in action-outcome contingency.Scientific reports · 2024Article
74 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
27 authors at 11 institutions in 3 countries.
Funding
Abstract
The three members of the human neurexin gene family, neurexin 1 (NRXN1), neurexin 2 (NRXN2), and neurexin 3 (NRXN3), encode neuronal adhesion proteins that have important roles in synapse development and function. In autism spectrum disorder (ASD), as well as in other neurodevelopmental conditions, rare exonic copy-number variants and/or point mutations have been identified in the NRXN1 and NRXN2 loci. We present clinical characterization of four index cases who have been diagnosed with ASD and who possess rare inherited or de novo microdeletions at 14q24.3-31.1, a region that overlaps exons of the alpha and/or beta isoforms of NRXN3. NRXN3 deletions were found in one father with subclinical autism and in a carrier mother and father without formal ASD diagnoses, indicating issues of penetrance and expressivity at this locus. Notwithstanding these clinical complexities, this report on ASD-affected individuals who harbor NRXN3 exonic deletions advances the understanding of the genetic etiology of autism, further enabling molecular diagnoses.
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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.