Varaico: Literature-Extracted Genetic Variants

Gene:TREM2
Variant:p.W198*
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TREM2

NM_018965.4:p.W198*

Associated Papers

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

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

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

Acosta-Uribe J et al.

Genome Medicine, 2022

35260199 (PubMed )
Supplement: 13073_2022_1035_MOESM12_ESM.xlsx › Additional_file_10__Table_S10

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

Duran-Aniotz C et al.

Frontiers in Neurology, 2021

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

Ashton NJ et al.

Alzheimer's Research & Therapy, 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

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

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

Walter J

The Journal of Biological Chemistry, 2016

TREM2 in CNS homeostasis and neurodegenerative disease.

Painter MM et al.

Molecular Neurodegeneration, 2015

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

Guerreiro R et al.

Neurobiology of Aging, 2013

Variants in triggering receptor expressed on myeloid cells 2 are associated with both behavioral variant frontotemporal lobar degeneration and Alzheimer's disease.

Giraldo M et al.

Neurobiology of Aging, 2013

Genetics of dementia: insights from Latin America.

Ramos C et al.

Dementia & Neuropsychologia, 0

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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."