Varaico: Literature-Extracted Genetic Variants

Gene:TREM2
Variant:p.K186N
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TREM2

NM_018965.4:p.K186N

Associated Papers

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

Yang H et al.

International Journal of Molecular Sciences, 2025

Biophysical characterization of TREM2 missense variants implicated in neurodegenerative disease.

Pillai J et al.

Computational and Structural Biotechnology Journal, 2025

DAP12 interacts with RER1 and is retained in the secretory pathway before assembly with TREM2.

Liu Y et al.

Cellular and Molecular Life Sciences : Cmls, 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

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

Soluble TREM2: Innocent bystander or active player in neurological diseases?

Filipello F et al.

Neurobiology of Disease, 2022

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

Korvatska O et al.

Frontiers in Immunology, 2020

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

Wolfe CM et al.

International Journal of Molecular Sciences, 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

Neurodegenerative disease mutations in TREM2 reveal a functional surface and distinct loss-of-function mechanisms.

Kober DL et al.

Elife, 2016

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

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

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."