Varaico: Literature-Extracted Genetic Variants

Gene:TREM2
Variant:p.W78*
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TREM2

NM_018965.4:p.W78*

Associated Papers

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

Yang H et al.

International Journal of Molecular Sciences, 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

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

Computational saturation mutagenesis to explore the effect of pathogenic mutations on extra-cellular domains of TREM2 associated with Alzheimer's and Nasu-Hakola disease.

Swain PS et al.

Journal of Molecular Modeling, 2023

Assessment of TREM2 rs75932628 variant's association with Parkinson's disease in a Greek population and Meta-analysis of current data.

Dardiotis E et al.

The International Journal of Neuroscience, 2021

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

Mutation analysis of the MS4A and TREM gene clusters in a case-control Alzheimer's disease data set.

Ghani M et al.

Neurobiology of Aging, 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

Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement.

Guerreiro RJ et al.

Jama Neurology, 2013

Absence of TREM2 polymorphisms in patients with Alzheimer's disease and Frontotemporal Lobar Degeneration.

Fenoglio C et al.

Neuroscience Letters, 2007

Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype.

Paloneva J et al.

American Journal of Human Genetics, 2002

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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."