ArticleMolecular autism2018
Significant transcriptional changes in 15q duplication but not Angelman syndrome deletion stem cell-derived neurons.
Article in Molecular autism, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
What it found
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Who cites it
20 citing papers in PubMed, 28 citations in OpenAlex.
- Mechanisms underlying the EEG biomarker in Dup15q syndrome.Molecular autism · 2019Trial
- Article
- RO4938581, a GABAMolecular psychiatry · 2026Article
- Case Report: Prenatal diagnosis of 10 fetuses with 15q11-q13 duplication and pregnancy outcome in a cohort of Chinese women.Frontiers in neuroscience · 2025Article
- Sleep EEG signatures in mouse models of 15q11.2-13.1 duplication (Dup15q) syndrome.Journal of neurodevelopmental disorders · 2024Article
- Family-based GWAS for dental class I malocclusion and clefts.BMC oral health · 2024Article
- UBE3A: The Role in Autism Spectrum Disorders (ASDs) and a Potential Candidate for Biomarker Studies and Designing Therapeutic Strategies.Diseases (Basel, Switzerland) · 2023Review
- Linoleic acid improves PIEZO2 dysfunction in a mouse model of Angelman Syndrome.Nature communications · 2023Article
- Analysis and comparisons of gene expression changes in patient- derived neurons from ROHHAD, CCHS, and PWS.Frontiers in pediatrics · 2023Article
- Culturing and Neuronal Differentiation of Human Dental Pulp Stem Cells.Current protocols · 2022Article
- An Association Study of DNA Methylation and Gene Expression in Angelman Syndrome: A Bioinformatics Approach.International journal of molecular sciences · 2022Article
- The potential roles of dental pulp stem cells in peripheral nerve regeneration.Frontiers in neurology · 2022Review
- Emerging Gene and Small Molecule Therapies for the Neurodevelopmental Disorder Angelman Syndrome.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2021Review
- Dental Pulp-Derived Mesenchymal Stem Cells for Modeling Genetic Disorders.International journal of molecular sciences · 2021Review
- Molecular Changes in Prader-Willi Syndrome Neurons Reveals Clues About Increased Autism Susceptibility.Frontiers in molecular neuroscience · 2021Article
- Alterations in the autonomic nerve activities of prenatal autism model mice treated with valproic acid at different developmental stages.Scientific reports · 2020Article
- Properties of beta oscillations in Dup15q syndrome.Journal of neurodevelopmental disorders · 2020Article
- Genetic interaction screen for severe neurodevelopmental disorders reveals a functional link between Ube3a and Mef2 in Drosophila melanogaster.Scientific reports · 2020Article
- Human Models Are Needed for Studying Human Neurodevelopmental Disorders.American journal of human genetics · 2018Review
- An integrated action plan to fund and support drug development for Dup15q syndrome: a patient organization perspective.Therapeutic advances in rare diseaseArticle
Corrections and comments
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Authors and funding
13 authors at 5 institutions in 4 countries.
Funding
Abstract
Background: The inability to analyze gene expression in living neurons from Angelman (AS) and Duplication 15q (Dup15q) syndrome subjects has limited our understanding of these disorders at the molecular level. Method: Here, we use dental pulp stem cells (DPSC) from AS deletion, 15q Duplication, and neurotypical control subjects for whole transcriptome analysis. We identified 20 genes unique to AS neurons, 120 genes unique to 15q duplication, and 3 shared transcripts that were differentially expressed in DPSC neurons vs controls. Results: Copy number correlated with gene expression for most genes across the 15q11.2-q13.1 critical region. Two thirds of the genes differentially expressed in 15q duplication neurons were downregulated compared to controls including several transcription factors, while in AS differential expression was restricted primarily to the 15q region. Here, we show significant downregulation of the transcription factors Conclusions: Finding a significant increase in both
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Registered trials
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