Publications:

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PSEN2 Thr421Met Mutation in a Patient with Early Onset Alzheimer's Disease.

International Journal Of Molecular Sciences

Yang, YoungSoon Y; Bagyinszky, Eva E; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2022-11-01

Variant appearance in text: PSEN1: Pro436Ser

PubMed Link: 36362122

Variant Present in the following documents:

• Main text
• ijms-23-13331.pdf

View BVdb publication page

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Recent Advances in the Modeling of Alzheimer's Disease.

Frontiers In Neuroscience

Sasaguri, Hiroki H; Hashimoto, Shoko S; Watamura, Naoto N; Sato, Kaori K; Takamura, Risa R; Nagata, Kenichi K; Tsubuki, Satoshi S; Ohshima, Toshio T; Yoshiki, Atsushi A; Sato, Kenya K; Kumita, Wakako W; Sasaki, Erika E; Kitazume, Shinobu S; Nilsson, Per P; Winblad, Bengt B; Saito, Takashi T; Iwata, Nobuhisa N; Saido, Takaomi C TC

Publication Date: 2022

Variant appearance in text: PSEN1: P436S

PubMed Link: 35431779

Variant Present in the following documents:

• Main text
• fnins-16-807473.pdf

View BVdb publication page

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Gene Editing and Alzheimer's Disease: Is There Light at the End of the Tunnel?

Frontiers In Genome Editing

Stepanichev, Mikhail M

Publication Date: 2020

Variant appearance in text: PSEN1: P436S

PubMed Link: 34713213

Variant Present in the following documents:

• Main text
• fgeed-02-00004.pdf

View BVdb publication page

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Brain somatic mutations observed in Alzheimer's disease associated with aging and dysregulation of tau phosphorylation.

Nature Communications

Park, Jun Sung JS; Lee, Junehawk J; Jung, Eun Sun ES; Kim, Myeong-Heui MH; Kim, Il Bin IB; Son, Hyeonju H; Kim, Sangwoo S; Kim, Sanghyeon S; Park, Young Mok YM; Mook-Jung, Inhee I; Yu, Seok Jong SJ; Lee, Jeong Ho JH

Publication Date: 2019-07-12

Variant appearance in text: PSEN1: P436S

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

View BVdb publication page

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Introduction of pathogenic mutations into the mouse Psen1 gene by Base Editor and Target-AID.

Nature Communications

Sasaguri, Hiroki H; Nagata, Kenichi K; Sekiguchi, Misaki M; Fujioka, Ryo R; Matsuba, Yukio Y; Hashimoto, Shoko S; Sato, Kaori K; Kurup, Deepika D; Yokota, Takanori T; Saido, Takaomi C TC

Publication Date: 2018-07-24

Variant appearance in text: PS1: P436S

PubMed Link: 30042426

Variant Present in the following documents:

• Main text
• 41467_2018_5262_MOESM1_ESM.pdf
• 41467_2018_Article_5262.pdf

View BVdb publication page

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Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.

Genome Research

Keogh, Michael J MJ; Wei, Wei W; Wilson, Ian I; Coxhead, Jon J; Ryan, Sarah S; Rollinson, Sara S; Griffin, Helen H; Kurzawa-Akanbi, Marzena M; Santibanez-Koref, Mauro M; Talbot, Kevin K; Turner, Martin R MR; McKenzie, Chris-Anne CA; Troakes, Claire C; Attems, Johannes J; Smith, Colin C; Al Sarraj, Safa S; Morris, Chris M CM; Ansorge, Olaf O; Pickering-Brown, Stuart S; Ironside, James W JW; Chinnery, Patrick F PF

Publication Date: 2017-01

Variant appearance in text: PSEN1: 1306C>T; P436S

PubMed Link: 28003435

Variant Present in the following documents:

• supp_gr.210609.116_Supplemental_Clinical_data.xlsx, sheet 2
• supp_gr.210609.116_Supplemental_Variant_data.xlsx, sheet 2

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The genetics of Alzheimer's disease.

Clinical Interventions In Aging

Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SS; Kim, SangYun S

Publication Date: 2014

Variant appearance in text: PSEN1: P436S

PubMed Link: 24729694

Variant Present in the following documents:

• Main text

View BVdb publication page

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A presenilin-1 mutation identified in familial Alzheimer disease with cotton wool plaques causes a nearly complete loss of gamma-secretase activity.

The Journal Of Biological Chemistry

Heilig, Elizabeth A EA; Xia, Weiming W; Shen, Jie J; Kelleher, Raymond J RJ

Publication Date: 2010-07-16

Variant appearance in text: PS1: P436S

PubMed Link: 20460383

Variant Present in the following documents:

• Main text

View BVdb publication page

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