Varaico: Literature-Extracted Genetic Variants

Gene:TREM2
Variant:p.Y38C
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TREM2

NM_018965.4:p.Y38C

Associated Papers

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

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

Yang H et al.

International Journal of Molecular Sciences, 2025

The impact of rare genetic variants on Alzheimer disease.

De Deyn L et al.

Nature Reviews. Neurology, 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

Microglia and TREM2.

Pocock J et al.

Neuropharmacology, 2024

CYP1B1-RMDN2 Alzheimer's disease endophenotype locus identified for cerebral tau PET.

Nho K et al.

Nature Communications, 2024

39304655 (PubMed )
Supplement: 41467_2024_52298_MOESM1_ESM.pdf

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

Homozygous TREM2 c.549del; p.(Leu184Serfs*5) variant causing Nasu-Hakola disease in three siblings in a consanguineous Iraqi family: Case report and review of literature.

Gilani N et al.

Molecular Genetics & Genomic Medicine, 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

Decoding sTREM2: its impact on Alzheimer's disease - a comprehensive review of mechanisms and implications.

Lin C et al.

Frontiers in Aging Neuroscience, 2024

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

Barczak A et al.

Folia Neuropathologica, 2024

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

Ogonowski N et al.

Journal of Medical Genetics, 2023

Defects in lysosomal function and lipid metabolism in human microglia harboring a TREM2 loss of function mutation.

Filipello F et al.

Acta Neuropathologica, 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

The role of TREM2 N-glycans in trafficking to the cell surface and signal transduction of TREM2.

Shirotani K et al.

Journal of Biochemistry, 2022

The role of triggering receptor expressed on myeloid cells 2 in Parkinson's disease and other neurodegenerative disorders.

Schwarz H et al.

Behavioural Brain Research, 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

An association test of the spatial distribution of rare missense variants within protein structures identifies Alzheimer's disease-related patterns.

Jin B et al.

Genome Research, 2022

Loss of TREM2 rescues hyperactivation of microglia, but not lysosomal deficits and neurotoxicity in models of progranulin deficiency.

Reifschneider A et al.

The Embo Journal, 2022

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

Kulkarni B et al.

Molecular Neurobiology, 2021

TREM2 variants as a possible cause of frontotemporal dementia with distinct neuroimaging features.

Samanci B et al.

European Journal of Neurology, 2021

How understudied populations have contributed to our understanding of Alzheimer's disease genetics.

Dehghani N et al.

Brain : a Journal of Neurology, 2021

Proteolytic Shedding of Human Colony-Stimulating Factor 1 Receptor and its implication.

Wei Y et al.

Journal of Cellular and Molecular Medicine, 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

Neurodegenerative Disease Risk in Carriers of Autosomal Recessive Disease.

Vieira SRL et al.

Frontiers in Neurology, 2021

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

Duran-Aniotz C et al.

Frontiers in Neurology, 2021

Insights Into the Role of CSF1R in the Central Nervous System and Neurological Disorders.

Hu B et al.

Frontiers in Aging Neuroscience, 2021

Trem2 Y38C mutation and loss of Trem2 impairs neuronal synapses in adult mice.

Jadhav VS et al.

Molecular Neurodegeneration, 2020

Trem2 Splicing and Expression are Preserved in a Human Aβ-producing, Rat Knock-in Model of Trem2-R47H Alzheimer's Risk Variant.

Tambini MD et al.

Scientific Reports, 2020

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

Dash R et al.

Scientific Reports, 2020

Analysis of Cerebrospinal Fluid Soluble TREM2 and Polymorphisms in Sporadic Parkinson's Disease in a Chinese Population.

Peng G et al.

Journal of Molecular Neuroscience : Mn, 2020

A rare heterozygous TREM2 coding variant identified in familial clustering of dementia affects an intrinsically disordered protein region and function of TREM2.

Karsak M et al.

Human Mutation, 2020

Triggering Receptor Expressed on Myeloid Cell 2 R47H Exacerbates Immune Response in Alzheimer's Disease Brain.

Korvatska O et al.

Frontiers in Immunology, 2020

Plasma levels of soluble TREM2 and neurofilament light chain in TREM2 rare variant carriers.

Ashton NJ et al.

Alzheimer's Research & Therapy, 2019

The MS4A gene cluster is a key modulator of soluble TREM2 and Alzheimer's disease risk.

Deming Y et al.

Science Translational Medicine, 2019

TREM2 brain transcript-specific studies in AD and TREM2 mutation carriers.

Del-Aguila JL et al.

Molecular Neurodegeneration, 2019

Neurodegenerative Disease-Associated Variants in TREM2 Destabilize the Apical Ligand-Binding Region of the Immunoglobulin Domain.

Dean HB et al.

Frontiers in Neurology, 2019

The Role of APOE and TREM2 in Alzheimer's Disease-Current Understanding and Perspectives.

Wolfe CM et al.

International Journal of Molecular Sciences, 2018

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