ArticleAlzheimer's & dementia : the journal of the Alzheimer's Association2021
Integrative functional genomic analysis of intron retention in human and mouse brain with Alzheimer's disease.
Article in Alzheimer's & dementia : the journal of the Alzheimer's Association, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 40 citations in OpenAlex.
- Origins and implications of intron retention quantitative trait loci in human tissues.American journal of human genetics · 2025Article
- Intron Retention and Alzheimer's Disease (AD): A Review of Regulation Genes Implicated in AD.Genes · 2025Review
- Article
- Human DDIT4L intron retention contributes to cognitive impairment and amyloid plaque formation.Cell discovery · 2025Article
- Article
- Single-nucleus RNA-sequencing of autosomal dominant Alzheimer disease and risk variant carriers.Nature communications · 2023Article
- Retained introns in long RNA-seq reads are not reliably detected in sample-matched short reads.Genome biology · 2022Article
- Truncated Tau caused by intron retention is enriched in Alzheimer's disease cortex and exhibits altered biochemical properties.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Article
- An integrated brain-specific network identifies genes associated with neuropathologic and clinical traits of Alzheimer's disease.Briefings in bioinformatics · 2022Article
- Sex-specific transcriptional rewiring in the brain of Alzheimer's disease patients.Frontiers in aging neuroscience · 2022Article
- A Severe Dementia Syndrome Caused by Intron Retention and Cryptic Splice Site Activation inFrontiers in molecular neuroscience · 2022Article
- Ontology Specific Alternative Splicing Changes in Alzheimer's Disease.Frontiers in genetics · 2022Article
- Family-Based Whole-Exome Analysis of Specific Language Impairment (SLI) Identifies Rare Variants inBrain sciences · 2021Article
- A Deep Exon Cryptic Splice Site Promotes Aberrant Intron Retention in a Von Willebrand Disease Patient.International journal of molecular sciences · 2021Article
- Atlas of RNA editing events affecting protein expression in aged and Alzheimer's disease human brain tissue.Nature communications · 2021Article
- Proteomic landscape of Alzheimer's Disease: novel insights into pathogenesis and biomarker discovery.Molecular neurodegeneration · 2021Review
- Integrative functional genomic analysis of intron retention in human and mouse brain with Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2021Article
Corrections and comments
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Authors and funding
20 authors at 7 institutions in 2 countries.
Funding
Abstract
Intron retention (IR) has been implicated in the pathogenesis of complex diseases such as cancers; its association with Alzheimer's disease (AD) remains unexplored. We performed genome-wide analysis of IR through integrating genetic, transcriptomic, and proteomic data of AD subjects and mouse models from the Accelerating Medicines Partnership-Alzheimer's Disease project. We identified 4535 and 4086 IR events in 2173 human and 1736 mouse genes, respectively. Quantitation of IR enabled the identification of differentially expressed genes that conventional exon-level approaches did not reveal. There were significant correlations of intron expression within innate immune genes, like HMBOX1, with AD in humans. Peptides with a high probability of translation from intron-retained mRNAs were identified using mass spectrometry. Further, we established AD-specific intron expression Quantitative Trait Loci, and identified splicing-related genes that may regulate IR. Our analysis provides a novel resource for the search for new AD biomarkers and pathological mechanisms.
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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 Socratic graph.