Varaico: Literature-Extracted Genetic Variants

Gene:TREM2
Variant:p.D86V
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TREM2

NM_018965.4:p.D86V

Associated Papers

Biophysical characterization of TREM2 missense variants implicated in neurodegenerative disease.

Pillai J et al.

Computational and Structural Biotechnology Journal, 2025

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 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

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

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

Samanci B et al.

European Journal of 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

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

Jadhav VS et al.

Molecular Neurodegeneration, 2020

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

Dean HB et al.

Frontiers in Neurology, 2019

TREM2 variants in neurodegenerative disorders in the Polish population. Homozygosity and compound heterozygosity in FTD patients.

Peplonska B et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2018

Frontotemporal Dementia and Chorea Associated with a Compound Heterozygous TREM2 Mutation.

Redaelli V et al.

Journal of Alzheimer's Disease : Jad, 2018

Neurodegeneration-associated mutant TREM2 proteins abortively cycle between the ER and ER-Golgi intermediate compartment.

Sirkis DW et al.

Molecular Biology of the Cell, 2017

A novel mutation in TREM2 gene causing Nasu-Hakola disease and review of the literature.

Dardiotis E et al.

Neurobiology of Aging, 2017

Targeted sequencing approach to identify genetic mutations in Nasu-Hakola disease.

Satoh JI et al.

Intractable & Rare Diseases Research, 2016

Rare TREM2 variants associated with Alzheimer's disease display reduced cell surface expression.

Sirkis DW et al.

Acta Neuropathologica Communications, 2016

The Triggering Receptor Expressed on Myeloid Cells 2: A Molecular Link of Neuroinflammation and Neurodegenerative Diseases.

Walter J

The Journal of Biological Chemistry, 2016

Novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family.

Guerreiro R et al.

Neurobiology of Aging, 2013

Evaluation of the Clinical Features Accompanied by the Gene Mutations: The 2 Novel PSEN1 Variants in a Turkish Early-onset Alzheimer Disease Cohort.

Eryilmaz IE et al.

Alzheimer Disease and Associated Disorders, 0

Nasu-Hakola Disease With Stroke-like Attack: A Case Report.

Rashid Nezhad A et al.

Alzheimer Disease and Associated Disorders, 0

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