ArticleNeurobiology of aging2016
TYROBP genetic variants in early-onset Alzheimer's disease.
Article in Neurobiology of aging, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 1 of them a synthesis that pooled it.
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Who cites it
47 citing papers in PubMed, 1 synthesis or guideline pooled it, 102 citations in OpenAlex.
- Sex-specific DNA methylation differences in Alzheimer's disease pathology.Acta neuropathologica communications · 2021Pooled it
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- Disease-associated microglia in neurodegenerative diseases: Friend or foe?PLoS biology · 2025Review
- Unraveling the complex role of microglia in Alzheimer's disease: amyloid β metabolism and plaque formation.Inflammation and regeneration · 2025Review
- Monoallelic TYROBP deletion is a novel risk factor for Alzheimer's disease.Molecular neurodegeneration · 2025Article
- Mutated Toll-like receptor 9 increases Alzheimer's disease risk by compromising innate immunity protection.Molecular psychiatry · 2023Article
- Exploring the Disease-Associated Microglia State in Amyotrophic Lateral Sclerosis.Biomedicines · 2023Article
- Frontotemporal-TDP and LATE Neurocognitive Disorders: A Pathophysiological and Genetic Approach.Brain sciences · 2023Review
- Identifying potential biomarkers for the diagnosis and treatment of IgA nephropathy based on bioinformatics analysis.BMC medical genomics · 2023Article
- AD-Syn-Net: systematic identification of Alzheimer's disease-associated mutation and co-mutation vulnerabilities via deep learning.Briefings in bioinformatics · 2023Article
- The neuroimmune axis of Alzheimer's disease.Genome medicine · 2023Review
- Homozygous mutation inBioImpacts : BI · 2023Article
- Human neural stem cells restore spatial memory in a transgenic Alzheimer's disease mouse model by an immunomodulating mechanism.Frontiers in aging neuroscience · 2023Article
- Gene co-expression analyses of health(span) across multiple species.NAR genomics and bioinformatics · 2022Article
- Microglial TYROBP/DAP12 in Alzheimer's disease: Transduction of physiological and pathological signals across TREM2.Molecular neurodegeneration · 2022Review
- CXCR4 and TYROBP mediate the development of atrial fibrillation via inflammation.Journal of cellular and molecular medicine · 2022Article
- Downregulation of m6A Methyltransferase in the Hippocampus ofFrontiers in neuroscience · 2022Article
- Bioinformatic identification of potential biomarkers and therapeutic targets in carotid atherosclerosis and vascular dementia.Frontiers in neurology · 2022Article
- Spatiotemporal patterns of gliosis and neuroinflammation in presenilin 1/2 conditional double knockout mice.Frontiers in aging neuroscience · 2022Article
- Interdependence of neural network dysfunction and microglial alterations in Alzheimer's disease-related models.iScience · 2021Article
Corrections and comments
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Authors and funding
30 authors at 8 institutions in 3 countries.
Funding
Abstract
We aimed to identify new candidate genes potentially involved in early-onset Alzheimer's disease (EOAD). Exome sequencing was conducted on 45 EOAD patients with either a family history of Alzheimer's disease (AD, <65 years) or an extremely early age at the onset (≤55 years) followed by multiple variant filtering according to different modes of inheritance. We identified 29 candidate genes potentially involved in EOAD, of which the gene TYROBP, previously implicated in AD, was selected for genetic and functional follow-up. Using 3 patient cohorts, we observed rare coding TYROBP variants in 9 out of 1110 EOAD patients, whereas no such variants were detected in 1826 controls (p = 0.0001), suggesting that at least some rare TYROBP variants might contribute to EOAD risk. Overexpression of the p.D50_L51ins14 TYROBP mutant led to a profound reduction of TREM2 expression, a well-established risk factor for AD. This is the first study supporting a role for genetic variation in TYROBP in EOAD, with in vitro support for a functional effect of the p.D50_L51ins14 TYROBP mutation on TREM2 expression.
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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.