Articles with "h157y variant" as a keyword



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Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2

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Published in 2023 at "Journal of Medical Genetics"

DOI: 10.1136/jmg-2022-108627

Abstract: Background The triggering receptor expressed on myeloid cell 2 (TREM2) is a major regulator of neuroinflammatory processes in neurodegeneration. To date, the p.H157Y variant of TREM2 has been reported only in patients with Alzheimer’s disease.… read more here.

Keywords: h157y variant; presentation; heterozygous h157y; variant ... See more keywords
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The TREM2 H157Y Variant Influences Microglial Phagocytosis, Polarization, and Inflammatory Cytokine Release

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Published in 2023 at "Brain Sciences"

DOI: 10.3390/brainsci13040642

Abstract: Previously, we reported that H157Y, a rare coding variant on exon 3 of the triggering receptor expressed on myeloid cells 2 gene (TREM2), was associated with Alzheimer’s disease (AD) risk in a Han Chinese population.… read more here.

Keywords: microglial phagocytosis; h157y variant; trem2 h157y;