Associated Papers
Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.
Khani M et al.
Nature Communications, 2025
Predicting the impact of missense mutations on an unresolved protein's stability, structure, and function: A case study of Alzheimer's disease-associated TREM2 R47H variant.
Pillai J et al.
Computational and Structural Biotechnology Journal, 2025
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
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
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
Defects in lysosomal function and lipid metabolism in human microglia harboring a TREM2 loss of function mutation.
Filipello F et al.
Acta Neuropathologica, 2023
Dynamic insights into the effects of nonsynonymous polymorphisms (nsSNPs) on loss of TREM2 function.
Dash R et al.
Scientific Reports, 2022
Soluble TREM2: Innocent bystander or active player in neurological diseases?
Filipello F et al.
Neurobiology of Disease, 2022
Mechanistic insights into the deleterious roles of Nasu-Hakola disease associated TREM2 variants.
Dash R et al.
Scientific Reports, 2020
Triggering Receptor Expressed on Myeloid Cell 2 R47H Exacerbates Immune Response in Alzheimer's Disease Brain.
Korvatska O et al.
Frontiers in Immunology, 2020
TREM2 brain transcript-specific studies in AD and TREM2 mutation carriers.
Del-Aguila JL et al.
Molecular Neurodegeneration, 2019
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
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
Clinical and genetic characterization of leukoencephalopathies in adults.
Lynch DS et al.
Brain : a Journal of Neurology, 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
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
Nasu-Hakola disease with a splicing mutation of TREM2 in a Japanese family.
Numasawa Y et al.
European Journal of Neurology, 2011
Immunohistochemical characterization of microglia in Nasu-Hakola disease brains.
Satoh J et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2011
A Japanese case with Nasu-Hakola disease of DAP12 gene mutation exhibiting precuneus hypoperfusion.
Nakamagoe K et al.
Internal Medicine (tokyo, Japan), 2011
Transcript profiles of dendritic cells of PLOSL patients link demyelinating CNS disorders with abnormalities in pathways of actin bundling and immune response.
Kiialainen A et al.
Journal of Molecular Medicine (berlin, Germany), 2007
Absence of TREM2 polymorphisms in patients with Alzheimer's disease and Frontotemporal Lobar Degeneration.
Fenoglio C et al.
Neuroscience Letters, 2007
The TREM2-DAP12 signaling pathway in Nasu-Hakola disease: a molecular genetics perspective.
Xing J et al.
Research and Reports in Biochemistry, 0
Primary Microgliopathy Presenting as Degenerative Dementias: A Case Series of Novel Gene Mutations from India.
Ramakrishnan S et al.
Dementia and Geriatric Cognitive Disorders Extra, 0