Identification of a rare coding variant in TREM2 in a Chinese individual with Alzheimer's disease

LW Bonham, DW Sirkis, J Fan, RE Aparicio, M Tse… - Neurocase, 2017 - Taylor & Francis
Rare variation in the TREM2 gene is associated with a broad spectrum of
neurodegenerative disorders including Alzheimer's disease (AD). TREM2 encodes a …

Rare TREM2 variants associated with Alzheimer's disease display reduced cell surface expression

DW Sirkis, LW Bonham, RE Aparicio, EG Geier… - Acta Neuropathologica …, 2016 - Springer
Rare variation in TREM2 has been associated with greater risk for Alzheimer's disease (AD).
TREM2 encodes a cell surface receptor expressed on microglia and related cells, and the …

TREM2 Variants in Alzheimer's Disease

R Guerreiro, A Wojtas, J Bras… - … England Journal of …, 2013 - Mass Medical Soc
Background Homozygous loss-of-function mutations in TREM2, encoding the triggering
receptor expressed on myeloid cells 2 protein, have previously been associated with an …

Investigating the role of rare heterozygous TREM2 variants in Alzheimer's disease and frontotemporal dementia

E Cuyvers, K Bettens, S Philtjens… - Neurobiology of …, 2014 - Elsevier
Homozygous mutations in exon 2 of TREM2, a gene involved in Nasu-Hakola disease, can
cause frontotemporal dementia (FTD). Moreover, a rare TREM2 exon 2 variant (p. R47H) …

Lack of genetic association between TREM2 and late-onset Alzheimer's disease in a Japanese population

A Miyashita, Y Wen, N Kitamura… - Journal of …, 2014 - content.iospress.com
Rare non-synonymous variants of TREM2 have recently been shown to be associated with
Alzheimer's disease (AD) in Caucasians. We here conducted a replication study using a well …

Frequency of the TREM2 R47H variant in various neurodegenerative disorders

AH Ayer, K Wojta, EM Ramos, D Dokuru… - Alzheimer Disease & …, 2019 - journals.lww.com
Objective: A rare variant in TREM2 (p. R47H, rs75932628) has been consistently reported to
increase the risk for Alzheimer disease (AD), while mixed evidence has been reported for …

TREM2: a new risk factor for Alzheimer's disease

F Aβ - Clin Genet, 2013 - search.ebscohost.com
TREM2: a new risk factor for Alzheimers disease Page 1 Clin Genet 2013: 83: 525–529 Printed
in Singapore. All rights reserved © 2013 John Wiley & Sons A/S. Published by Blackwell …

Coding variants in TREM2 increase risk for Alzheimer's disease

SC Jin, BA Benitez, CM Karch, B Cooper… - Human molecular …, 2014 - academic.oup.com
The triggering receptor expressed on myeloid 2 (TREM2) is an immune phagocytic receptor
expressed on brain microglia known to trigger phagocytosis and regulate the inflammatory …

An alternatively spliced TREM2 isoform lacking the ligand binding domain is expressed in human brain

BC Shaw, HC Snider, AK Turner… - Journal of …, 2022 - content.iospress.com
Background: Genetic variants in TREM2 are strongly associated with Alzheimer's disease
(AD) risk but alternative splicing in TREM2 transcripts has not been comprehensively …

A rare coding variant in TREM2 increases risk for Alzheimer's disease in Han Chinese

T Jiang, L Tan, Q Chen, MS Tan, JS Zhou, XC Zhu… - Neurobiology of …, 2016 - Elsevier
Two recent studies have identified that a rare coding variant (p. R47H) in exon 2 of triggering
receptor expressed on myeloid cells 2 (TREM2) gene is associated with Alzheimer's disease …