Varaico: Literature-Extracted Genetic Variants

Gene:TREM2
Variant:p.T96K
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TREM2

NM_018965.4:p.T96K

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

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

Penati S et al.

Neuron, 2026

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

Pilat DJ 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

Alternative splicing and the aging brain in AfrAbia: New frontiers in dementia research.

Aremu SA

Ibro Neuroscience Reports, 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

41088469 (PubMed )
Supplement: 13195_2025_1854_MOESM2_ESM.xlsx › SuppTable2

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

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

Genetic association study between rs2234253 (p.T96K) variant of TREM2 and Alzheimer's disease in a Tunisian population.

Achouri-Rassas A et al.

Neurological Research, 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

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

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 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

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

Rare genetic variation in fibronectin 1 (FN1) protects against APOEε4 in Alzheimer's disease.

Bhattarai P et al.

Acta Neuropathologica, 2024

38598053 (PubMed )
Supplement: 401_2024_2721_MOESM5_ESM.xlsx › S_Table_2

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

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

Cárdenas WA et al.

Plos One, 2024

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

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

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

35672339 (PubMed )
Supplement: 41598_2022_13120_MOESM6_ESM.doc

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

A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects.

Acosta-Uribe J et al.

Genome Medicine, 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

Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.

Bartoletti-Stella A et al.

Frontiers in Aging Neuroscience, 2022

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

Kulkarni B et al.

Molecular Neurobiology, 2021

Harnessing the paradoxical phenotypes of APOE ɛ2 and APOE ɛ4 to identify genetic modifiers in Alzheimer's disease.

Kim YW et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2021

Glial cells and adaptive immunity in frontotemporal dementia with tau pathology.

Hartnell IJ et al.

Brain : a Journal of Neurology, 2021

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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."