Varaico: Literature-Extracted Genetic Variants

Gene:TREM2
Variant:p.D87N
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TREM2

NM_018965.4:p.D87N

Associated Papers

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

Proitsi P et al.

Brain Communications, 2026

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

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

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

Longitudinal analysis of a dominantly inherited Alzheimer disease mutation carrier protected from dementia.

Llibre-Guerra JJ et al.

Nature Medicine, 2025

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

Dijkstra JIR et al.

Alzheimer's Research & Therapy, 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

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

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

Greven JA et al.

Research Square, 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

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

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

Winfree RL et al.

Molecular Neurodegeneration, 2024

Innate immune activation in neurodegenerative diseases.

Castro-Gomez S et al.

Immunity, 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

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

TREM2 receptor protects against complement-mediated synaptic loss by binding to complement C1q during neurodegeneration.

Zhong L et al.

Immunity, 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

TREM2 risk variants are associated with atypical Alzheimer's disease.

Kim B et al.

Acta Neuropathologica, 2022

Microglial TYROBP/DAP12 in Alzheimer's disease: Transduction of physiological and pathological signals across TREM2.

Haure-Mirande JV et al.

Molecular Neurodegeneration, 2022

Dynamic insights into the effects of nonsynonymous polymorphisms (nsSNPs) on loss of TREM2 function.

Dash R et al.

Scientific Reports, 2022

TREM2 coding variants in Slovak Alzheimer's disease patients.

Durmanova V et al.

Journal of Integrative Neuroscience, 2022

Soluble TREM2: Innocent bystander or active player in neurological diseases?

Filipello F et al.

Neurobiology of Disease, 2022

Soluble TREM2 inhibits secondary nucleation of Aβ fibrillization and enhances cellular uptake of fibrillar Aβ.

Belsare KD et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

Microglial TREM2 in amyotrophic lateral sclerosis.

Xie M et al.

Developmental Neurobiology, 2022

TREM2 Gene Compound Heterozygosity in Neurodegenerative Disorders.

Berdyński M et al.

Journal of Alzheimer's Disease : Jad, 2022

Role of TREM2 in Alzheimer's Disease: A Long Road Ahead.

Kulkarni B et al.

Molecular Neurobiology, 2021

The most prevalent rare coding variants of TREM2 conferring risk of Alzheimer's disease: A systematic review and meta-analysis.

Li R et al.

Experimental and Therapeutic Medicine, 2021

African Americans Have Differences in CSF Soluble TREM2 and Associated Genetic Variants.

Schindler SE et al.

Neurology. Genetics, 2021

Insight into the genetic etiology of Alzheimer's disease: A comprehensive review of the role of rare variants.

Hoogmartens J et al.

Alzheimer's & Dementia (amsterdam, Netherlands), 2021

Systematic Review: Genetic, Neuroimaging, and Fluids Biomarkers for Frontotemporal Dementia Across Latin America Countries.

Duran-Aniotz C et al.

Frontiers in Neurology, 2021

Association of APOE With Primary Open-Angle Glaucoma Suggests a Protective Effect for APOE ε4.

Margeta MA et al.

Investigative Ophthalmology & Visual Science, 2020

Genetic factors related to the immune system in subjects at risk of developing Alzheimer's disease.

Prendecki M et al.

Journal of Integrative Neuroscience, 2020

Heterozygous TREM2 Mutation in Semantic Variant of Primary Progressive Aphasia.

Ji MJ et al.

Journal of Clinical Neurology (seoul, Korea), 2020

Mechanistic insights into the deleterious roles of Nasu-Hakola disease associated TREM2 variants.

Dash R et al.

Scientific Reports, 2020

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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."