ArticleNature neuroscience2019
Profiling allele-specific gene expression in brains from individuals with autism spectrum disorder reveals preferential minor allele usage.
Article in Nature neuroscience, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 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
27 citing papers in PubMed, 50 citations in OpenAlex.
- The landscape of allele-specific expression in human kidneys.Science advances · 2026Article
- Allele-specific expression in the brain links genetic risk and cortical thinning in psychiatric disorders.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2026Article
- Transcriptomic Convergence in Autism Spectrum Disorder: Synaptic, Immune-Glial and RNA-Regulatory Axes in the Human Cerebral Cortex.International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience · 2026Review
- Mapping the landscape of allele-specific expression in porcine genomes.Genome biology · 2026Article
- Allele specific expression in Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Article
- Small Nucleolar RNAs (snoRNAs) in Cancer: From Biogenesis to Clinical Potential.OncoTargets and therapy · 2026Review
- Gain of Alternative Allele Expression of LINC02449 at rs149707223 in Schizophrenia and Bipolar Disorder: Inducing Synaptic Transmission and Behavioral Deficits in Mice.Nature communications · 2025Article
- LILRB3 genetic variation is associated with kidney transplant failure in African American recipients.Nature medicine · 2025Article
- Advances in the mechanism of small nucleolar RNA and its role in DNA damage response.Military Medical Research · 2024Review
- Detection of allele-specific expression in spatial transcriptomics with spASE.Genome biology · 2024Article
- Gene-expression profiling of individuals resilient to Alzheimer's disease reveals higher expression of genes related to metallothionein and mitochondrial processes and no changes in the unfolded protein response.Acta neuropathologica communications · 2024Article
- Extracellular vesicles from mouse trophoblast cells: Effects on neural progenitor cells and potential participants in the placenta-brain axis†.Biology of reproduction · 2024Article
- Cynomolgus-rhesus hybrid macaques serve as a platform for imprinting studies.Innovation (Cambridge (Mass.)) · 2023Article
- Trans-genetic effects of circular RNA expression quantitative trait loci and potential causal mechanisms in autism.Molecular psychiatry · 2022Article
- A missense mutation inProceedings of the National Academy of Sciences of the United States of America · 2022Article
- CircMiMi: a stand-alone software for constructing circular RNA-microRNA-mRNA interactions across species.BMC bioinformatics · 2022Article
- Small nucleolar RNAs in plasma extracellular vesicles and their discriminatory power as diagnostic biomarkers of Alzheimer's disease.Neurobiology of disease · 2021Article
- Genetic contributions to autism spectrum disorder.Psychological medicine · 2021Review
- Recovering genotypes and phenotypes using allele-specific genes.Genome biology · 2021Article
- Biological implications of genetic variations in autism spectrum disorders from genomics studies.Bioscience reports · 2021Review
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
One fundamental but understudied mechanism of gene regulation in disease is allele-specific expression (ASE), the preferential expression of one allele. We leveraged RNA-sequencing data from human brain to assess ASE in autism spectrum disorder (ASD). When ASE is observed in ASD, the allele with lower population frequency (minor allele) is preferentially more highly expressed than the major allele, opposite to the canonical pattern. Importantly, genes showing ASE in ASD are enriched in those downregulated in ASD postmortem brains and in genes harboring de novo mutations in ASD. Two regions, 14q32 and 15q11, containing all known orphan C/D box small nucleolar RNAs (snoRNAs), are particularly enriched in shifts to higher minor allele expression. We demonstrate that this allele shifting enhances snoRNA-targeted splicing changes in ASD-related target genes in idiopathic ASD and 15q11-q13 duplication syndrome. Together, these results implicate allelic imbalance and dysregulation of orphan C/D box snoRNAs in ASD pathogenesis.
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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.