Varaico: Literature-Extracted Genetic Variants

Gene:TREM2
Variant:p.R47H
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TREM2

NM_018965.4:p.R47H

Associated Papers

Targeting Inflammation in Alzheimer's Disease: Insights Into Pathophysiology and Therapeutic Avenues-A Comprehensive Review.

Topalis V et al.

Journal of Geriatric Psychiatry and Neurology, 2026

Decoding TREM2 Signaling Pathways: Linking Macrophage Glycolysis to Inflammatory Diseases in the CNS.

Che Y et al.

Neurology(r) Neuroimmunology & Neuroinflammation, 2026

A ligand-mimetic anti-TREM2 agonist antibody elevates soluble TREM2 and ameliorates pathology in mouse models of Alzheimer's disease and multiple sclerosis.

Chen B et al.

Journal of Neuroinflammation, 2026

Dysregulated Lipid Metabolism and Neurovascular Unit Dysfunction: Novel Mechanisms Linking Alzheimer's Disease and Vascular Dementia.

Li M et al.

Aging and Disease, 2026

Understanding Neurodegenerative Diseases From the -Omics Perspective: Lessons Learnt.

Ibanez L et al.

Annals of Neurology, 2026

TREM2 Drives Neutrophil Extracellular Traps-Induced Dendritic Cell Maturation and Contributes to Lupus Progression.

Shu J et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2026

Sterile innate immune mechanisms in neurodegenerative diseases.

Ealy A et al.

The Journal of Biological Chemistry, 2026

Protective PLCG2 variants associate with a delayed onset of Alzheimer's disease among heterozygous APOE ε4 carriers.

Jeskanen H et al.

Alzheimer's Research & Therapy, 2026

InCytokine, an Open-Source Software, Reveals a TREM2 Variant-Specific Cytokine Signature.

Jha D et al.

International Journal of Molecular Sciences, 2026

Integrative Multiomics Insights into the Genetic and Epigenetic Architecture of Alzheimer's Disease.

Mishra AK et al.

Acs Chemical Neuroscience, 2026

The TREM2 T96K paradox: Stronger signaling in vitro, weaker microglia in vivo.

Penati S et al.

Neuron, 2026

TREM2 activation by first-in-class direct small molecule agonists: DEL screening, optimization, biophysical validation, and functional characterization.

Nada H et al.

European Journal of Medicinal Chemistry, 2026

The gain-of-function TREM2-T96K mutation increases risk for Alzheimer's disease by impairing microglial function.

Pilat DJ et al.

Neuron, 2026

Plasma soluble TREM2 is associated with plasma pTau-181 and pTau-231 in cognitively normal older adults at risk of Alzheimer's disease.

Asih PR et al.

Journal of Alzheimer's Disease : Jad, 2026

Alterations in the brain lipidome of Alzheimer's disease donors with rare TREM2 risk variants.

Proitsi P et al.

Brain Communications, 2026

Mechanistic Disruption of the TREM2-DAP12 Transmembrane Complex by Alzheimer's Disease Mutations: A Multiscale Simulation Study.

Zhong Z et al.

Journal of Chemical Information and Modeling, 2025

Multi-ancestry exome-wide study identifies variants associated with Alzheimer's disease protection.

Khurshid Z et al.

Journal of Alzheimer's Disease : Jad, 2025

Trem2R47H and reduced TREM2 expression both mimic human Alzheimer's disease signatures in mice.

Abel TR et al.

Biorxiv : the Preprint Server for Biology, 2025

STING-IFN-CH25H lipid axis links innate immune activation to tau pathology.

Chen H et al.

Biorxiv : the Preprint Server for Biology, 2025

Structural Analysis of Missense Mutations on the Stability of APOE3 and APOE4.

Anthony M et al.

Genes, 2025

Alzheimer's Disease Risk Variants Interact with Amyloid-Beta to Modulate Monocyte Function.

Chatila ZK et al.

Cells, 2025

Tangles and Plaques: A deep dive into the pathological hallmarks of Alzheimer's disease.

Vanya et al.

Neuroscience, 2025

DAP12 deletion reduces neuronal SLIT2 and demyelination and enhances brain resilience in female tauopathy mice.

Chen H et al.

Molecular Neurodegeneration, 2025

Development of potent humanized TNFα inhibitory nanobodies for therapeutic applications in TNFα-mediated diseases.

Yin T et al.

Mabs, 2025

Analysis of whole genome sequence data shows association of Alzheimer's disease with rare coding variants in ABCA7, PSEN1, SORL1 and TREM2.

Curtis D et al.

Journal of Neurogenetics, 2025

Microglial TREM2 deficiency causes E/I imbalance and triggers ASD-like behaviors by altering potassium channel Kv1.3 activation.

Wang Y et al.

Neurobiology of Disease, 2025

As48, a first-in-class dual-function TREM2 modulator: Receptor activation and shedding inhibition.

Cho S et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2025

Loss of Nuclear TDP-43 Impairs Lipid Metabolism in Microglia-Like Cells.

Kabra K et al.

Research Square, 2025

Alzheimer's Disease Risk Variants Interact with Amyloid-beta to Modulate Monocyte Function.

Chatila ZK et al.

Biorxiv : the Preprint Server for Biology, 2025

Decoding Alzheimer's Disease: Single-Cell Sequencing Uncovers Brain Cell Heterogeneity and Pathogenesis.

Ma YN et al.

Molecular Neurobiology, 2025

Alzheimer's disease multi-ancestry genome-wide interaction and stratified study with smoking.

Dacey R et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2025

Consensus meta-analysis of genome-wide association studies for Alzheimer's disease and related dementia.

Unknown Author

Medrxiv : the Preprint Server for Health Sciences, 2025

41282675 (PubMed )
Supplement: media-1.pdf

Alzheimer's disease risk factor APOE4 exerts dimorphic effects on female bone.

Schurman CA et al.

Biorxiv : the Preprint Server for Biology, 2025

Genetic testing of common and rare variants in dementia patients from a memory clinic : Dementia-related genetic testing in memory clinic.

de Rojas I et al.

Alzheimer's Research & Therapy, 2025

Phagocytes as Plaque Catalysts: Human Macrophages Actively Generate Pathogenic Aβ42 Fibrils with Seeding and Cross-Seeding Potency.

Konstantoulea K et al.

Biorxiv : the Preprint Server for Biology, 2025

ApoE-calypse tau: ApoE-tau synergy in Alzheimer's disease.

Lennol MP et al.

The Journal of Experimental Medicine, 2025

Cell autonomous microglia defects in a stem cell model of frontotemporal dementia tau.

Iyer AK et al.

Molecular Psychiatry, 2025

Differential associations of APOE and TREM2 variants with glial fibrillary acidic protein and neurofilament light in plasma of UK Biobank participants support distinct disease mechanisms.

Freudenberg-Hua Y et al.

Molecular Psychiatry, 2025

TREM2-apoE3 interactions and Alzheimer's disease: Molecular and structural insights and effects of TREM2 R47H and apoE4 variants.

Greer RA et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2025

Glycosylation in neuroinflammation: mechanisms, implications, and therapeutic strategies for neurodegenerative diseases.

Cheng S et al.

Translational Neurodegeneration, 2025

Loss of Nuclear TDP-43 Impairs Lipid Metabolism in Microglia-Like Cells.

Kabra K et al.

Biorxiv : the Preprint Server for Biology, 2025

Microglial Dysfunction and Amyloid-Beta Pathology in Alzheimer's Disease and HIV-Associated Neurocognitive Disorders.

Njoku GC et al.

International Journal of Molecular Sciences, 2025

The flexible stalk domain of sTREM2 modulates its interactions with brain-based phospholipids.

Saeb D et al.

Elife, 2025

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