ArticleJournal of child psychology and psychiatry, and allied disciplines2019
Integrative network analysis reveals biological pathways associated with Williams syndrome.
Article in Journal of child psychology and psychiatry, and allied disciplines, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 36 citations in OpenAlex.
- Comparison of the Sensory Profile Among Autistic Individuals and Individuals with Williams Syndrome.Journal of autism and developmental disorders · 2025Article
- Metabolic profiling reveals altered amino acid and fatty acid metabolism in children with Williams Syndrome.Scientific reports · 2024Article
- Article
- Dorsal visual stream and LIMK1: hemideletion, haplotype, and enduring effects in children with Williams syndrome.Journal of neurodevelopmental disorders · 2023Article
- High-throughput functional analysis of autism genes in zebrafish identifies convergence in dopaminergic and neuroimmune pathways.Cell reports · 2023Article
- Bringing machine learning to research on intellectual and developmental disabilities: taking inspiration from neurological diseases.Journal of neurodevelopmental disorders · 2022Review
- Article
- Novel insights into the immune cell landscape and gene signatures in autism spectrum disorder by bioinformatics and clinical analysis.Frontiers in immunology · 2022Article
- Mechanistic Insight Into the Regulation of Immune-Related Genes Expression in Autism Spectrum Disorder.Frontiers in molecular biosciences · 2021Article
- Integrated DNA methylation analysis reveals a potential role for ANKRD30B in Williams syndrome.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2020Article
- Whole exome sequencing in patients with Williams-Beuren syndrome followed by disease modeling in mice points to four novel pathways that may modify stenosis risk.Human molecular genetics · 2020Article
- Birdsong as a window into language origins and evolutionary neuroscience.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2020Review
- Genes Positively Selected in Domesticated Mammals Are Significantly Dysregulated in the Blood of Individuals with Autism Spectrum Disorders.Molecular syndromology · 2020Article
- MicroRNA profiling in adults with high-functioning autism spectrum disorder.Molecular brain · 2019Article
- An epigenetic biomarker for adult high-functioning autism spectrum disorder.Scientific reports · 2019Article
- Robust Candidates for Language Development and Evolution Are Significantly Dysregulated in the Blood of People With Williams Syndrome.Frontiers in neuroscience · 2019Article
Corrections and comments
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Authors and funding
17 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundWilliams syndrome (WS) is a neurodevelopmental disorder that has been attributed to heterozygous deletions in chromosome 7q11.23 and exhibits a variety of physical, cognitive, and behavioral features. However, the genetic basis of this phenotypic variability is unclear. In this study, we identified genetic clues underlying these complex phenotypes.
methodsNeurobehavioral function was assessed in WS patients and healthy controls. Total RNA was extracted from peripheral blood and subjected to microarray analysis, RNA-sequencing, and qRT-PCR. Weighted gene co-expression network analysis was performed to identify specific alterations related to intermediate disease phenotypes. To functionally interpret each WS-related module, gene ontology and disease-related gene enrichment were examined. We also investigated the micro (mi)RNA expression profiles and miRNA co-expression networks to better explain the regulation of the transcriptome in WS.
resultsOur analysis identified four significant co-expression modules related to intermediate WS phenotypes. Notably, the three upregulated WS-related modules were composed exclusively of genes located outside the 7q11.23 region. They were significantly enriched in genes related to B-cell activation, RNA processing, and RNA transport. BCL11A, which is known for its association with speech disorders and intellectual disabilities, was identified as one of the hub genes in the top WS-related module. Finally, these key upregulated mRNA co-expression modules appear to be inversely correlated with a specific downregulated WS-related miRNA co-expression module.
conclusionsDysregulation of the mRNA/miRNA network involving genes outside of the 7q11.23 region is likely related to the complex phenotypes observed in WS patients.
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