Varaico: Literature-Extracted Genetic Variants

Gene:TREM2
Variant:p.R62C
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TREM2

NM_018965.4:p.R62C

Associated Papers

Biophysical characterization of TREM2 missense variants implicated in neurodegenerative disease.

Pillai J et al.

Computational and Structural Biotechnology Journal, 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-15.xlsx › Supplementary_Table_2

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

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

Barczak A et al.

Folia Neuropathologica, 2024

Correction: Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes.

Silvaieh S et al.

Human Genomics, 2023

Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes.

Silvaieh S et al.

Human Genomics, 2023

TREM2 Gene Compound Heterozygosity in Neurodegenerative Disorders.

Berdyński M et al.

Journal of Alzheimer's Disease : Jad, 2022

36031890 (PubMed )
Supplement: sj-xlsx-2-alz-10.3233_jad-220210.xlsx › Robocza

TREM2 modulates differential deposition of modified and non-modified Aβ species in extracellular plaques and intraneuronal deposits.

Joshi P et al.

Acta Neuropathologica Communications, 2021

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

Kulkarni B et al.

Molecular Neurobiology, 2021

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

Duran-Aniotz C et al.

Frontiers in Neurology, 2021

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

Endo-lysosomal dysregulations and late-onset Alzheimer's disease: impact of genetic risk factors.

Van Acker ZP et al.

Molecular Neurodegeneration, 2019

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

Del-Aguila JL et al.

Molecular Neurodegeneration, 2019

Loss of TREM2 function increases amyloid seeding but reduces plaque-associated ApoE.

Parhizkar S et al.

Nature Neuroscience, 2019

TREM2 - a key player in microglial biology and Alzheimer disease.

Ulland TK et al.

Nature Reviews. Neurology, 2018

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

Genetic Analysis of TREM2 Variants in Tunisian Patients with Alzheimer's Disease.

Landoulsi Z et al.

Medical Principles and Practice : International Journal of the Kuwait University, Health Science Centre, 2018

Alzheimer's disease-associated TREM2 variants exhibit either decreased or increased ligand-dependent activation.

Song W et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2017

Association Study of the TREM2 Gene and Identification of a Novel Variant in Exon 2 in Iranian Patients with Late-Onset Alzheimer's Disease.

Mehrjoo Z et al.

Medical Principles and Practice : International Journal of the Kuwait University, Health Science Centre, 2015

TREM2 R47H variant as a risk factor for early-onset Alzheimer's disease.

Pottier C et al.

Journal of Alzheimer's Disease : Jad, 2013

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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."