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: Thr116Ile

PubMed Link: 36142879

Variant Present in the following documents:

• ijms-23-10970.pdf

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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: Thr116ile

PubMed Link: 35017413

Variant Present in the following documents:

• NRR-17-1666.pdf

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Research Criteria for the Behavioral Variant of Alzheimer Disease: A Systematic Review and Meta-analysis.

Jama Neurology

Ossenkoppele, Rik R; Singleton, Ellen H EH; Groot, Colin C; Dijkstra, Anke A AA; Eikelboom, Willem S WS; Seeley, William W WW; Miller, Bruce B; Laforce, Robert Jr RJ; Scheltens, Philip P; Papma, Janne M JM; Rabinovici, Gil D GD; Pijnenburg, Yolande A L YAL

Publication Date: 2022-01-01

Variant appearance in text: PSEN1: Thr116Ile

PubMed Link: 34870696

Variant Present in the following documents:

• Main text
• jamaneurol-e214417-s001.pdf

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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: Thr116Ile

PubMed Link: 32545847

Variant Present in the following documents:

• Main text
• diagnostics-10-00405.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: Thr116Ile

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: Thr116Ile

PubMed Link: 31391004

Variant Present in the following documents:

• 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: T116I

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

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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: Thr116Ile

PubMed Link: 31182772

Variant Present in the following documents:

• Main text
• 41598_2019_Article_44848.pdf

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Analysis of 50 Neurodegenerative Genes in Clinically Diagnosed Early-Onset Alzheimer's Disease.

International Journal Of Molecular Sciences

Giau, Vo Van VV; Senanarong, Vorapun V; Bagyinszky, Eva E; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2019-03-26

Variant appearance in text: PSEN1: Thr116Ile

PubMed Link: 30917570

Variant Present in the following documents:

• ijms-20-01514.pdf

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Genetic analysis of neurodegenerative diseases in a pathology cohort.

Neurobiology Of Aging

Blauwendraat, Cornelis C; Pletnikova, Olga O; Geiger, Joshua T JT; Murphy, Natalie A NA; Abramzon, Yevgeniya Y; Rudow, Gay G; Mamais, Adamantios A; Sabir, Marya S MS; Crain, Barbara B; Ahmed, Sarah S; Rosenthal, Liana S LS; Bakker, Catherine C CC; Faghri, Faraz F; Chia, Ruth R; Ding, Jinhui J; Dawson, Ted M TM; Pantelyat, Alexander A; Albert, Marilyn S MS; Nalls, Mike A MA; Resnick, Susan M SM; Ferrucci, Luigi L; Cookson, Mark R MR; Hillis, Argye E AE; Troncoso, Juan C JC; Scholz, Sonja W SW

Publication Date: 2019-04

Variant appearance in text: PSEN1: T116I

PubMed Link: 30528841

Variant Present in the following documents:

• Main text

View BVdb publication page

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Serum neurofilament light levels correlate with severity measures and neurodegeneration markers in autosomal dominant Alzheimer's disease.

Alzheimer'S Research & Therapy

Sánchez-Valle, Raquel R; Heslegrave, Amanda A; Foiani, Martha S MS; Bosch, Beatriz B; Antonell, Anna A; Balasa, Mircea M; Lladó, Albert A; Zetterberg, Henrik H; Fox, Nick C NC

Publication Date: 2018-11-03

Variant appearance in text: PSEN1: T116I

PubMed Link: 30390718

Variant Present in the following documents:

• Main text
• 13195_2018_Article_439.pdf

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PSEN1 p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer's Disease.

International Journal Of Molecular Sciences

Bagyinszky, Eva E; Lee, Hye-Mi HM; Van Giau, Vo V; Koh, Seong-Beom SB; Jeong, Jee Hyang JH; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2018-09-02

Variant appearance in text: PSEN1: Thr116Ile

PubMed Link: 30200536

Variant Present in the following documents:

• Main text

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: T116I

PubMed Link: 30042426

Variant Present in the following documents:

• Main text
• 41467_2018_Article_5262.pdf

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A genetic screen of the mutations in the Korean patients with early-onset Alzheimer's disease.

Clinical Interventions In Aging

An, Seong Soo SS; Park, Sun Ah SA; Bagyinszky, Eva E; Bae, Sun Oh SO; Kim, Yoon-Jeong YJ; Im, Ji Young JY; Park, Kyung Won KW; Park, Kee Hyung KH; Kim, Eun-Joo EJ; Jeong, Jee Hyang JH; Kim, Jong Hun JH; Han, Hyun Jeong HJ; Choi, Seong Hye SH; Kim, SangYun S

Publication Date: 2016

Variant appearance in text: PSEN1: T116I

PubMed Link: 28008242

Variant Present in the following documents:

• Main text
• cia-11-1817.pdf

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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: Thr116Ile

PubMed Link: 27799753

Variant Present in the following documents:

• Main text
• cia-11-1467.pdf

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Genetic heterogeneity in Alzheimer disease and implications for treatment strategies.

Current Neurology And Neuroscience Reports

Ringman, John M JM; Goate, Alison A; Masters, Colin L CL; Cairns, Nigel J NJ; Danek, Adrian A; Graff-Radford, Neill N; Ghetti, Bernardino B; Morris, John C JC; ,

Publication Date: 2014-11

Variant appearance in text: PSEN1: Thr116Ile

PubMed Link: 25217249

Variant Present in the following documents:

• Main text

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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: PS1: Thr116Ile

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

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Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP.

Neurobiology Of Aging

Guerreiro, Rita Joao RJ; Baquero, Miquel M; Blesa, Rafael R; Boada, Mercè M; Brás, Jose Miguel JM; Bullido, Maria J MJ; Calado, Ana A; Crook, Richard R; Ferreira, Carla C; Frank, Ana A; Gómez-Isla, Teresa T; Hernández, Isabel I; Lleó, Alberto A; Machado, Alvaro A; Martínez-Lage, Pablo P; Masdeu, José J; Molina-Porcel, Laura L; Molinuevo, José L JL; Pastor, Pau P; Pérez-Tur, Jordi J; Relvas, Rute R; Oliveira, Catarina Resende CR; Ribeiro, Maria Helena MH; Rogaeva, Ekaterina E; Sa, Alfredo A; Samaranch, Lluís L; Sánchez-Valle, Raquel R; Santana, Isabel I; Tàrraga, Lluís L; Valdivieso, Fernando F; Singleton, Andrew A; Hardy, John J; Clarimón, Jordi J

Publication Date: 2010-05

Variant appearance in text: PSEN1: 347C>T; T116I

PubMed Link: 18667258

Variant Present in the following documents:

• Main text

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Reply to Dr Raux et al.: Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update (J Med Genet 2005;42:793-5).

Journal Of Medical Genetics

Larner, A J AJ; Doran, M M

Publication Date: 2006-08

Variant appearance in text: PSEN1: T116I

PubMed Link: 16882738

Variant Present in the following documents:

• Main text

View BVdb publication page

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