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: Trp165Cys

PubMed Link: 36142879

Variant Present in the following documents:

• Main text
• ijms-23-10970.pdf

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Clinical Phenotype and Mutation Spectrum of Alzheimer's Disease with Causative Genetic Mutation in a Chinese Cohort.

Current Alzheimer Research

Mao, Chenhui C; Li, Jie J; Dong, Liling L; Huang, Xinying X; Lei, Dan D; Wang, Jie J; Chu, Shanshan S; Liu, Caiyan C; Peng, Bin B; Román, Gustavo C GC; Cui, Liying L; Gao, Jing J

Publication Date: 2021

Variant appearance in text: PSEN1: 495G>C; W165C

PubMed Link: 34102969

Variant Present in the following documents:

• CAR-18-265_SD1.pdf

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An Analysis of the Neurological and Molecular Alterations Underlying the Pathogenesis of Alzheimer's Disease.

Cells

Vidal, Chantal C; Zhang, Li L

Publication Date: 2021-03-04

Variant appearance in text: PSEN1: Trp165Cys

PubMed Link: 33806317

Variant Present in the following documents:

• cells-10-00546.pdf

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Modulatory Effects of Autophagy on APP Processing as a Potential Treatment Target for Alzheimer's Disease.

Biomedicines

Rahman, Md Ataur MA; Rahman, Md Saidur MS; Rahman, M D Hasanur MDH; Rasheduzzaman, Mohammad M; Mamun-Or-Rashid, Anm A; Uddin, Md Jamal MJ; Rahman, Md Rezanur MR; Hwang, Hongik H; Pang, Myung-Geol MG; Rhim, Hyewhon H

Publication Date: 2020-12-24

Variant appearance in text: PSEN1: trp165cys

PubMed Link: 33374126

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of a Rare PSEN1 Mutation (Thr119Ile) in Late-Onset Alzheimer's Disease With Early Presentation of Behavioral Disturbance.

Frontiers In Psychiatry

Zhang, Shouzi S; Li, Xiang X; Zhang, Li L; Meng, Xiangyan X; Ma, Li L; Zhang, Guangze G; Wu, Haiyan H; Liang, Ling L; Cao, Meng M; Mei, Fan F

Publication Date: 2020

Variant appearance in text: PSEN1: W165C

PubMed Link: 32477171

Variant Present in the following documents:

• Main text
• fpsyt-11-00347.pdf

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Potential Therapeutic Approaches to Alzheimer's Disease By Bioinformatics, Cheminformatics And Predicted Adme-Tox Tools.

Current Neuropharmacology

Avram, Speranta S; Mernea, Maria M; Limban, Carmen C; Borcan, Florin F; Chifiriuc, Carmen C

Publication Date: 2020

Variant appearance in text: PSEN1: Trp165Cys

PubMed Link: 31885353

Variant Present in the following documents:

• Main text
• CN-18-696.pdf

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APP, PSEN1, and PSEN2 Mutations in Asian Patients with Early-Onset Alzheimer Disease.

International Journal Of Molecular Sciences

Giau, Vo Van VV; Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2019-09-25

Variant appearance in text: PSEN1: Trp165Cys

PubMed Link: 31557888

Variant Present in the following documents:

• Main text
• ijms-20-04757.pdf

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A pathogenic PSEN1 Trp165Cys mutation associated with early-onset Alzheimer's disease.

Bmc Neurology

Van Giau, Vo V; Pyun, Jung-Min JM; Suh, Jeewon J; Bagyinszky, Eva E; An, Seong Soo A SSA; Kim, Sang Yun SY

Publication Date: 2019-08-07

Variant appearance in text: PSEN1: W165C

PubMed Link: 31391004

Variant Present in the following documents:

• Main text
• 12883_2019_Article_1419.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: W165C

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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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: Trp165Cys

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

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