TREM2 c.406_408delinsAGC ;(p.R136S)

Variant ID: 6-41127604-CCG-GCT

NM_018965.3(TREM2):c.406_408delinsAGC;(p.R136S)

This variant was identified in 16 publications

View GRCh38 version.




Publications:


Large multi-ethnic genetic analyses of amyloid imaging identify new genes for Alzheimer disease.

Acta Neuropathologica Communications
Ali, Muhammad M; Archer, Derek B DB; Gorijala, Priyanka P; Western, Daniel D; Timsina, Jigyasha J; Fernández, Maria V MV; Wang, Ting-Chen TC; Satizabal, Claudia L CL; Yang, Qiong Q; Beiser, Alexa S AS; Wang, Ruiqi R; Chen, Gengsheng G; Gordon, Brian B; Benzinger, Tammie L S TLS; Xiong, Chengjie C; Morris, John C JC; Bateman, Randall J RJ; Karch, Celeste M CM; McDade, Eric E; Goate, Alison A; Seshadri, Sudha S; Mayeux, Richard P RP; Sperling, Reisa A RA; Buckley, Rachel F RF; Johnson, Keith A KA; Won, Hong-Hee HH; Jung, Sang-Hyuk SH; Kim, Hang-Rai HR; Seo, Sang Won SW; Kim, Hee Jin HJ; Mormino, Elizabeth E; Laws, Simon M SM; Fan, Kang-Hsien KH; Kamboh, M Ilyas MI; Vemuri, Prashanthi P; Ramanan, Vijay K VK; Yang, Hyun-Sik HS; Wenzel, Allen A; Rajula, Hema Sekhar Reddy HSR; Mishra, Aniket A; Dufouil, Carole C; Debette, Stephanie S; Lopez, Oscar L OL; DeKosky, Steven T ST; Tao, Feifei F; Nagle, Michael W MW; , ; , ; , ; , ; , ; Hohman, Timothy J TJ; Sung, Yun Ju YJ; Dumitrescu, Logan L; Cruchaga, Carlos C
Publication Date: 2023-04-26

Variant appearance in text: TREM2: R136S
PubMed Link: 37101235
Variant Present in the following documents:
  • Main text
  • 40478_2023_Article_1563.pdf
View BVdb publication page



APOE in the bullseye of neurodegenerative diseases: impact of the APOE genotype in Alzheimer's disease pathology and brain diseases.

Molecular Neurodegeneration
Fernández-Calle, Rosalía R; Konings, Sabine C SC; Frontiñán-Rubio, Javier J; García-Revilla, Juan J; Camprubí-Ferrer, Lluís L; Svensson, Martina M; Martinson, Isak I; Boza-Serrano, Antonio A; Venero, José Luís JL; Nielsen, Henrietta M HM; Gouras, Gunnar K GK; Deierborg, Tomas T
Publication Date: 2022-09-24

Variant appearance in text: TREM2: R136S
PubMed Link: 36153580
Variant Present in the following documents:
  • Main text
  • 13024_2022_Article_566.pdf
View BVdb publication page



Alzheimer's disease - the journey of a healthy brain into organ failure.

Molecular Neurodegeneration
Golde, Todd E TE
Publication Date: 2022-03-05

Variant appearance in text: TREM2: R136S
PubMed Link: 35248124
Variant Present in the following documents:
  • Main text
  • 13024_2022_Article_523.pdf
View BVdb publication page



Advances in Genetic and Molecular Understanding of Alzheimer's Disease.

Genes
Ibanez, Laura L; Cruchaga, Carlos C; Fernández, Maria Victoria MV
Publication Date: 2021-08-15

Variant appearance in text: TREM2: R136S
PubMed Link: 34440421
Variant Present in the following documents:
  • Main text
View BVdb publication page



The informed road map to prevention of Alzheimer Disease: A call to arms.

Molecular Neurodegeneration
McDade, Eric E; Llibre-Guerra, Jorge J JJ; Holtzman, David M DM; Morris, John C JC; Bateman, Randall J RJ
Publication Date: 2021-07-21

Variant appearance in text: TREM2: R136S
PubMed Link: 34289882
Variant Present in the following documents:
  • Main text
  • 13024_2021_Article_467.pdf
View BVdb publication page



Cholesterol and Alzheimer's Disease; From Risk Genes to Pathological Effects.

Frontiers In Aging Neuroscience
Feringa, Femke M FM; van der Kant, Rik R
Publication Date: 2021

Variant appearance in text: TREM2: R136S
PubMed Link: 34248607
Variant Present in the following documents:
  • Main text
View BVdb publication page



CSF1R inhibition rescues tau pathology and neurodegeneration in an A/T/N model with combined AD pathologies, while preserving plaque associated microglia.

Acta Neuropathologica Communications
Lodder, Chritica C; Scheyltjens, Isabelle I; Stancu, Ilie Cosmin IC; Botella Lucena, Pablo P; Gutiérrez de Ravé, Manuel M; Vanherle, Sarah S; Vanmierlo, Tim T; Cremers, Niels N; Vanrusselt, Hannah H; Brône, Bert B; Hanseeuw, Bernard B; Octave, Jean-Noël JN; Bottelbergs, Astrid A; Movahedi, Kiavash K; Dewachter, Ilse I
Publication Date: 2021-06-08

Variant appearance in text: TREM2: R136S
PubMed Link: 34103079
Variant Present in the following documents:
  • Main text
  • 40478_2021_Article_1204.pdf
View BVdb publication page



Insight into the genetic etiology of Alzheimer's disease: A comprehensive review of the role of rare variants.

Alzheimer'S & Dementia (Amsterdam, Netherlands)
Hoogmartens, Julie J; Cacace, Rita R; Van Broeckhoven, Christine C
Publication Date: 2021

Variant appearance in text: TREM2: R136S
PubMed Link: 33665345
Variant Present in the following documents:
  • Main text
  • DAD2-13-e12155.pdf
View BVdb publication page



APOE and Alzheimer's disease: advances in genetics, pathophysiology, and therapeutic approaches.

The Lancet. Neurology
Serrano-Pozo, Alberto A; Das, Sudeshna S; Hyman, Bradley T BT
Publication Date: 2021-01

Variant appearance in text: TREM2: R136S
PubMed Link: 33340485
Variant Present in the following documents:
  • Main text
  • nihms-1684246.pdf
View BVdb publication page



Review of How Genetic Research on Segmental Progeroid Syndromes Has Documented Genomic Instability as a Hallmark of Aging But Let Us Now Pursue Antigeroid Syndromes!

The Journals Of Gerontology. Series A, Biological Sciences And Medical Sciences
Martin, George M GM; Hisama, Fuki M FM; Oshima, Junko J
Publication Date: 2021-01-18

Variant appearance in text: TREM2: Arg136Ser
PubMed Link: 33295962
Variant Present in the following documents:
  • Main text
View BVdb publication page



Apolipoprotein E: Structural Insights and Links to Alzheimer Disease Pathogenesis.

Neuron
Chen, Yun Y; Strickland, Michael R MR; Soranno, Andrea A; Holtzman, David M DM
Publication Date: 2021-01-20

Variant appearance in text: TREM2: R136S
PubMed Link: 33176118
Variant Present in the following documents:
  • Main text
View BVdb publication page



APOE2: protective mechanism and therapeutic implications for Alzheimer's disease.

Molecular Neurodegeneration
Li, Zonghua Z; Shue, Francis F; Zhao, Na N; Shinohara, Mitsuru M; Bu, Guojun G
Publication Date: 2020-11-04

Variant appearance in text: TREM2: R136S
PubMed Link: 33148290
Variant Present in the following documents:
  • Main text
  • 13024_2020_Article_413.pdf
View BVdb publication page



The Role of HDL and HDL Mimetic Peptides as Potential Therapeutics for Alzheimer's Disease.

Biomolecules
Chernick, Dustin D; Zhong, Rui R; Li, Ling L
Publication Date: 2020-09-04

Variant appearance in text: TREM2: R136S
PubMed Link: 32899606
Variant Present in the following documents:
  • Main text
  • biomolecules-10-01276.pdf
View BVdb publication page



Sex-dependent effect of APOE on Alzheimer's disease and other age-related neurodegenerative disorders.

Disease Models & Mechanisms
Gamache, Julia J; Yun, Young Y; Chiba-Falek, Ornit O
Publication Date: 2020-08-27

Variant appearance in text: TREM2: R136S
PubMed Link: 32859588
Variant Present in the following documents:
  • Main text
View BVdb publication page



APOE and dementia - resequencing and genotyping in 105,597 individuals.

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association
Rasmussen, Katrine L KL; Tybjaerg-Hansen, Anne A; Nordestgaard, Børge G BG; Frikke-Schmidt, Ruth R
Publication Date: 2020-12

Variant appearance in text: TREM2: Arg136Ser
PubMed Link: 32808727
Variant Present in the following documents:
  • Main text
  • ALZ-16-1624.pdf
View BVdb publication page



Using human induced pluripotent stem cells (hiPSCs) to investigate the mechanisms by which Apolipoprotein E (APOE) contributes to Alzheimer's disease (AD) risk.

Neurobiology Of Disease
Raman, Sreedevi S; Brookhouser, Nicholas N; Brafman, David A DA
Publication Date: 2020-05

Variant appearance in text: TREM2: R136S
PubMed Link: 32032733
Variant Present in the following documents:
  • Main text
View BVdb publication page