SynthesisAnnals of neurology2015
Protective variant for hippocampal atrophy identified by whole exome sequencing.
Synthesis in Annals of neurology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
39 citing papers in PubMed, 53 citations in OpenAlex.
- Plasma REST: a novel candidate biomarker of Alzheimer's disease is modified by psychological intervention in an at-risk population.Translational psychiatry · 2017Trial
- Systems biology of Alzheimer's Disease: a scoping review of key pathways and mechanisms.Molecular neurodegeneration · 2026Article
- The first 25 years of the Northwestern University SuperAging Program.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- Stearoyl-CoA desaturase-1: a potential therapeutic target for neurological disorders.Molecular neurodegeneration · 2024Review
- Psychometric approaches to defining cognitive phenotypes in the Old Order Amish.International journal of geriatric psychiatry · 2023Article
- Crosstalk between Glycogen-Selective Autophagy, Autophagy and Apoptosis as a Road towards Modifier Gene Discovery and New Therapeutic Strategies for Glycogen Storage Diseases.Life (Basel, Switzerland) · 2022Review
- Plasma repressor element 1-silencing transcription factor levels are decreased in patients with Alzheimer's disease.BMC geriatrics · 2022Article
- Untreated PKU patients without intellectual disability:Molecular genetics and metabolism reports · 2021Article
- Protective genes and pathways in Alzheimer's disease: moving towards precision interventions.Molecular neurodegeneration · 2021Review
- Serum metabolites associated with brain amyloid beta deposition, cognition and dementia progression.Brain communications · 2021Article
- Volumetric GWAS of medial temporal lobe structures identifies an ERC1 locus using ADNI high-resolution T2-weighted MRI data.Neurobiology of aging · 2020Article
- Genome-wide transcriptome analysis identifies novel dysregulated genes implicated in Alzheimer's pathology.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2020Article
- Brain-wide structural connectivity alterations under the control of Alzheimer risk genes.International journal of computational biology and drug design · 2020Article
- Brain Imaging Genomics: Integrated Analysis and Machine Learning.Proceedings of the IEEE. Institute of Electrical and Electronics Engineers · 2020Article
- Association of Altered Liver Enzymes With Alzheimer Disease Diagnosis, Cognition, Neuroimaging Measures, and Cerebrospinal Fluid Biomarkers.JAMA network open · 2019Article
- Chronic Metabolic Derangement-Induced Cognitive Deficits and Neurotoxicity Are Associated with REST Inactivation.Molecular neurobiology · 2019Article
- Article
- Altered bile acid profile in mild cognitive impairment and Alzheimer's disease: Relationship to neuroimaging and CSF biomarkers.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2019Article
- Identification of exon skipping events associated with Alzheimer's disease in the human hippocampus.BMC medical genomics · 2019Article
- A Longitudinal Imaging Genetics Study of Neuroanatomical Asymmetry in Alzheimer's Disease.Biological psychiatry · 2018Article
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Authors and funding
38 authors at 14 institutions in 7 countries.
Funding
Abstract
We used whole-exome sequencing to identify variants other than APOE associated with the rate of hippocampal atrophy in amnestic mild cognitive impairment. An in-silico predicted missense variant in REST (rs3796529) was found exclusively in subjects with slow hippocampal volume loss and validated using unbiased whole-brain analysis and meta-analysis across 5 independent cohorts. REST is a master regulator of neurogenesis and neuronal differentiation that has not been previously implicated in Alzheimer's disease. These findings nominate REST and its functional pathways as protective and illustrate the potential of combining next-generation sequencing with neuroimaging to discover novel disease mechanisms and potential therapeutic targets.
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Identifiers
What OpenQuestion holds
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.