Publications:

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Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.

International Journal Of Molecular Sciences

Bagaria, Jaya J; Bagyinszky, Eva E; An, Seong Soo A SSA

Publication Date: 2022-09-19

Variant appearance in text: PSEN1: Cys263Arg

PubMed Link: 36142879

Variant Present in the following documents:

• Main text
• ijms-23-10970.pdf

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A New Presenilin 1 (Psen1) Mutation (p.Cys263Trp) as a Cause of Both Early and Late-Onset Alzheimer's Disease in a Large Italian Family.

International Journal Of Molecular Sciences

Tortelli, Rosanna R; Seripa, Davide D; Zecca, Chiara C; Dell'Abate, Maria Teresa MT; Bisceglia, Paola P; Barulli, Maria Rosaria MR; De Blasi, Roberto R; Logroscino, Giancarlo G

Publication Date: 2021-06-09

Variant appearance in text: PSEN1: C263R

PubMed Link: 34207526

Variant Present in the following documents:

• Main text
• ijms-22-06215.pdf

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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: C263R

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

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Effect of Presenilin Mutations on APP Cleavage; Insights into the Pathogenesis of FAD.

Frontiers In Aging Neuroscience

Li, Nuomin N; Liu, Kefu K; Qiu, Yunjie Y; Ren, Zehui Z; Dai, Rongji R; Deng, Yulin Y; Qing, Hong H

Publication Date: 2016

Variant appearance in text: PS1: C263R

PubMed Link: 27014058

Variant Present in the following documents:

• Main text
• fnagi-08-00051.pdf

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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: Cys263Arg

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

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The presenilin hypothesis of Alzheimer's disease: evidence for a loss-of-function pathogenic mechanism.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Shen, Jie J; Kelleher, Raymond J RJ

Publication Date: 2007-01-09

Variant appearance in text: PS1: C263R

PubMed Link: 17197420

Variant Present in the following documents:

• Main text

View BVdb publication page

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