Varaico: Literature-Extracted Genetic Variants

Gene:TREM2
Variant:p.R62H
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TREM2

NM_018965.4:p.R62H

Associated Papers

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

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

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

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

Cho S et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2025

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

Ma YN et al.

Molecular Neurobiology, 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

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

Lennol MP et al.

The Journal of Experimental Medicine, 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

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

Saeb D et al.

Elife, 2025

The TREM2 H157Y variant is associated with more severe neurodegeneration in Alzheimer's disease and altered immune-related processes.

Tsui JSM et al.

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

BrainGeneBot: a framework for variant prioritization and generative pretrained transformer-informed interpretation across polygenic risk score studies.

Qu G et al.

Briefings in Bioinformatics, 2025

41148224 (PubMed )
Supplement: bib_supplemetary_r1_clean_bbaf565.pdf

As48, a First-in-Class Dual-Function TREM2 Modulator: Receptor Activation and Shedding Inhibition.

Cho S et al.

Biorxiv : the Preprint Server for Biology, 2025

Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.

Khani M et al.

Nature Communications, 2025

40813364 (PubMed )
Supplement: 41467_2025_62108_MOESM3_ESM.xlsx › Supplementary_Data_1

Neuroimaging-derived biological brain age and its associations with glial reactivity and synaptic dysfunction cerebrospinal fluid biomarkers.

Cumplido-Mayoral I et al.

Molecular Psychiatry, 2025

TREM2 in Neurodegenerative Disorders: Mutation Spectrum, Pathophysiology, and Therapeutic Targeting.

Yang H et al.

International Journal of Molecular Sciences, 2025

Glial Cells in Alzheimer's Disease: Pathogenic Mechanisms and Therapeutic Frontiers.

Sil M et al.

Journal of Molecular Neuroscience : Mn, 2025

Variable and interactive effects of Sex, APOE ε4 and TREM2 on the deposition of tau in entorhinal and neocortical regions.

Giorgio J et al.

Nature Communications, 2025

Cytokines and immune biomarkers in neurodegeneration and cognitive function: A systematic review among individuals of African ancestry.

Antwi MH et al.

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

Novel early-onset Alzheimer-associated genes influence risk through dysregulation of glutamate, immune activation, and intracellular signaling pathways.

Bradley J et al.

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

TREM2 Activation by First-in-Class Direct Small Molecule Agonists: DEL Screening, Optimization, Biophysical Validation, and Functional Characterization.

Nada H et al.

Biorxiv : the Preprint Server for Biology, 2025

Decoding microglial immunometabolism: a new frontier in Alzheimer's disease research.

Jung ES et al.

Molecular Neurodegeneration, 2025

TREM2 risk variants and associated endophenotypes in alzheimer's disease.

Dijkstra JIR et al.

Alzheimer's Research & Therapy, 2025

APOE and TREM2 variants differentially influence glial fibrillary acidic protein and neurofilament light in plasma of UK Biobank participants.

Freudenberg-Hua Y et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

The Spectrum of Genetic Risk in Alzheimer Disease.

Karagas N et al.

Neurology. Genetics, 2025

Biophysical mapping of TREM2-ligand interactions reveals shared surfaces for engagement of multiple Alzheimer's disease ligands.

Greven JA et al.

Molecular Neurodegeneration, 2025

Predicting the impact of missense mutations on an unresolved protein's stability, structure, and function: A case study of Alzheimer's disease-associated TREM2 R47H variant.

Pillai J et al.

Computational and Structural Biotechnology Journal, 2025

Biophysical characterization of TREM2 missense variants implicated in neurodegenerative disease.

Pillai J et al.

Computational and Structural Biotechnology Journal, 2025

Heterozygous TREM2 (p.W44X) and PSEN1 (p.A431T) mutations in two Peruvian families with familial Alzheimer's disease: expanding the genetic landscape in underrepresented populations.

Villegas-Llerena C et al.

Frontiers in Neuroscience, 2025

Plasticity of Human Microglia and Brain Perivascular Macrophages in Aging and Alzheimer's Disease.

Lee D et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Pathophysiologic abnormalities in transgenic mice carrying the Alzheimer disease PSEN1 Δ440 mutation.

Fuller PE et al.

Human Molecular Genetics, 2024

Microglia and TREM2.

Pocock J et al.

Neuropharmacology, 2024

AlzDiscovery: A computational tool to identify Alzheimer's disease-causing missense mutations using protein structure information.

Pan Q et al.

Protein Science : a Publication of the Protein Society, 2024

Biophysical mapping of TREM2-ligand interactions reveals shared surfaces for engagement of multiple Alzheimer's disease ligands.

Greven JA et al.

Research Square, 2024

A Risk Variant rs6922617 in TREM Is Discrepantly Associated With Defining Neuropathological Hallmarks in the Alzheimer's Continuum.

Qian S et al.

The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences, 2024

Multimerization of TREM2 is impaired by Alzheimer's disease-associated variants.

Dean HB et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024

TREM2 on microglia cell surface binds to and forms functional binary complexes with heparan sulfate modified with 6-O-sulfation and iduronic acid.

McMillan IO et al.

The Journal of Biological Chemistry, 2024

Variable and interactive effects of Sex, APOE ε4 and TREM2 on the deposition of tau in entorhinal and neocortical regions.

Giorgio J et al.

Research Square, 2024

TREM2 variants that cause early dementia and increase Alzheimer's disease risk affect gene splicing.

Kiianitsa K et al.

Brain : a Journal of Neurology, 2024

Novel early-onset Alzheimer-associated genes influence risk through dysregulation of glutamate, immune activation, and intracell signaling pathways.

Cruchaga C et al.

Research Square, 2024

1–50 of 245 papers
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."