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: Leu232Pro

PubMed Link: 36142879

Variant Present in the following documents:

• Main text
• ijms-23-10970.pdf

View BVdb publication page

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Amyloid-beta peptide and tau protein crosstalk in Alzheimer's disease.

Neural Regeneration Research

Roda, Alejandro R AR; Serra-Mir, Gabriel G; Montoliu-Gaya, Laia L; Tiessler, Lidia L; Villegas, Sandra S

Publication Date: 2022-08

Variant appearance in text: PSEN1: Leu232Pro

PubMed Link: 35017413

Variant Present in the following documents:

• NRR-17-1666.pdf

View BVdb publication page

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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: L232P

PubMed Link: 34207526

Variant Present in the following documents:

• Main text
• ijms-22-06215.pdf

View BVdb publication page

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Pathogenic PSEN1 Thr119Ile Mutation in Two Korean Patients with Early-Onset Alzheimer's Disease.

Diagnostics (Basel, Switzerland)

Bagyinszky, Eva E; Lee, Hyon H; Pyun, Jung Min JM; Suh, Jeewon J; Kang, Min Ju MJ; Vo, Van Giau VG; An, Seong Soo A SSA; Park, Kee Hyung KH; Kim, SangYun S

Publication Date: 2020-06-14

Variant appearance in text: PSEN1: Leu232Pro

PubMed Link: 32545847

Variant Present in the following documents:

• Main text
• diagnostics-10-00405.pdf

View BVdb publication page

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Pathogenic PSEN1 Glu184Gly Mutation in a Family from Thailand with Probable Autosomal Dominant Early Onset Alzheimer's Disease.

Diagnostics (Basel, Switzerland)

Senanarong, Vorapun V; An, Seong Soo A SSA; Vo Van, Giau G; Limwongse, Chanin C; Bagyinszky, Eva E; Kim, SangYun S

Publication Date: 2020-03-01

Variant appearance in text: PSEN1: Leu232Pro

PubMed Link: 32121568

Variant Present in the following documents:

• Main text
• diagnostics-10-00135.pdf

View BVdb publication page

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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: 695T>C; Leu232Pro

PubMed Link: 31557888

Variant Present in the following documents:

• Main text
• ijms-20-04757.pdf

View BVdb publication page

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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: Leu232Pro

PubMed Link: 31391004

Variant Present in the following documents:

• 12883_2019_Article_1419.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: L232P

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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Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.

Scientific Reports

Giau, Vo Van VV; Bagyinszky, Eva E; Yang, Young Soon YS; Youn, Young Chul YC; An, Seong Soo A SSA; Kim, Sang Yun SY

Publication Date: 2019-06-10

Variant appearance in text: PSEN1: Leu232Pro

PubMed Link: 31182772

Variant Present in the following documents:

• 41598_2019_Article_44848.pdf

View BVdb publication page

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Disease Pathway Cut for Multi-Target drugs.

Bmc Bioinformatics

Bang, Sunjoo S; Son, Sangjoon S; Kim, Sooyoung S; Shin, Hyunjung H

Publication Date: 2019-02-13

Variant appearance in text: PSEN1: Leu232Pro

PubMed Link: 30760209

Variant Present in the following documents:

• 12859_2019_Article_2638.pdf

View BVdb publication page

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Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.

Clinical Interventions In Aging

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

Publication Date: 2016

Variant appearance in text: PSEN1: Leu232Pro

PubMed Link: 27799753

Variant Present in the following documents:

• Main text
• cia-11-1467.pdf

View BVdb publication page

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