Varaico: Literature-Extracted Genetic Variants

Gene:TREM2
Variant:p.H157Y
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TREM2

NM_018965.4:p.H157Y

Associated Papers

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

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

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

Penati S et al.

Neuron, 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

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

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

Recent Advances and Future Directions in Alzheimer's Disease Genetic Research.

Stancheva M et al.

International Journal of Molecular Sciences, 2025

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

Genetic profiling of synchronous pituitary corticotroph adenomas.

Zhang D et al.

Pituitary, 2025

40544420 (PubMed )
Supplement: 11102_2025_1549_MOESM3_ESM.xlsx › Suppl_Table3

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

Biobank-scale characterization of Alzheimer's disease and related dementias identifies potential disease-causing variants, risk factors, and genetic modifiers across diverse ancestries.

Khani M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39606324 (PubMed )
Supplement: media-14.xlsx › Supplementary_Table_1

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

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

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

Variants in the MS4A cluster interact with soluble TREM2 expression on biomarkers of neuropathology.

Winfree RL et al.

Molecular Neurodegeneration, 2024

Functional BRI2-TREM2 interactions in microglia: implications for Alzheimer's and related dementias.

Yin T et al.

Embo Reports, 2024

iPSC-derived microglia carrying the TREM2 R47H/+ mutation are proinflammatory and promote synapse loss.

Penney J et al.

Glia, 2024

Proteo-genomics of soluble TREM2 in cerebrospinal fluid provides novel insights and identifies novel modulators for Alzheimer's disease.

Wang L et al.

Molecular Neurodegeneration, 2024

Behavioral variant of frontotemporal dementia in carriers of biallelic TREM2 variants: cases study.

Barczak A et al.

Folia Neuropathologica, 2024

Ancestral origins of TYR and OCA2 gene mutations in oculocutaneous albinism from two admixed populations in Colombia.

Cárdenas WA et al.

Plos One, 2024

Proximity Proteome Analysis Reveals Novel TREM2 Interactors in the ER-Mitochondria Interface of Human Microglia.

Kwak C et al.

Biorxiv : the Preprint Server for Biology, 2023

Computational saturation mutagenesis to explore the effect of pathogenic mutations on extra-cellular domains of TREM2 associated with Alzheimer's and Nasu-Hakola disease.

Swain PS et al.

Journal of Molecular Modeling, 2023

The VCAM1-ApoE pathway directs microglial chemotaxis and alleviates Alzheimer's disease pathology.

Lau SF et al.

Nature Aging, 2023

Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2.

Ogonowski N et al.

Journal of Medical Genetics, 2023

BRI2-mediated regulation of TREM2 processing in microglia and its potential implications for Alzheimer's disease and related dementias.

Yin T et al.

Biorxiv : the Preprint Server for Biology, 2023

Metabolomic and lipidomic signatures in autosomal dominant and late-onset Alzheimer's disease brains.

Novotny BC et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2023

36251323 (PubMed )
Supplement: NIHMS1865189-supplement-SUPPORTING_INFORMATION_3.xlsx › Table_S1

Single-nucleus RNA-sequencing of autosomal dominant Alzheimer disease and risk variant carriers.

Brase L et al.

Nature Communications, 2023

The TREM2 H157Y Variant Influences Microglial Phagocytosis, Polarization, and Inflammatory Cytokine Release.

Fu XX et al.

Brain Sciences, 2023

Insights from new in vivo models of TREM2 variants.

Jain N et al.

Molecular Neurodegeneration, 2023

Genetics of Alzheimer's disease: an East Asian perspective.

Miyashita A et al.

Journal of Human Genetics, 2023

Profiling TREM2 expression in amyotrophic lateral sclerosis.

Jericó I et al.

Brain, Behavior, and Immunity, 2023

Trem2 H157Y increases soluble TREM2 production and reduces amyloid pathology.

Qiao W et al.

Molecular Neurodegeneration, 2023

Untangling the Role of TREM2 in Conjugation with Microglia in Neuronal Dysfunction: A Hypothesis on a Novel Pathway in the Pathophysiology of Alzheimer's Disease.

Basha SC et al.

Journal of Alzheimer's Disease : Jad, 2023

Co-occurring pathogenic variants in 6q27 associated with dementia spectrum disorders in a Peruvian family.

Alvarez KLF et al.

Frontiers in Molecular Neuroscience, 2023

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