Publications:

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Familial Alzheimer's Disease Mutations in PSEN1 Lead to Premature Human Stem Cell Neurogenesis.

Cell Reports

Arber, Charles C; Lovejoy, Christopher C; Harris, Lachlan L; Willumsen, Nanet N; Alatza, Argyro A; Casey, Jackie M JM; Lines, Georgie G; Kerins, Caoimhe C; Mueller, Anika K AK; Zetterberg, Henrik H; Hardy, John J; Ryan, Natalie S NS; Fox, Nick C NC; Lashley, Tammaryn T; Wray, Selina S

Publication Date: 2021-01-12

Variant appearance in text: PSEN1: S169del

PubMed Link: 33440141

Variant Present in the following documents:

• Main text
• mmc3.pdf

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Human Pluripotent Stem Cell-Derived Neural Cells as a Relevant Platform for Drug Screening in Alzheimer's Disease.

International Journal Of Molecular Sciences

Garcia-Leon, Juan Antonio JA; Caceres-Palomo, Laura L; Sanchez-Mejias, Elisabeth E; Mejias-Ortega, Marina M; Nuñez-Diaz, Cristina C; Fernandez-Valenzuela, Juan Jose JJ; Sanchez-Varo, Raquel R; Davila, Jose Carlos JC; Vitorica, Javier J; Gutierrez, Antonia A

Publication Date: 2020-09-18

Variant appearance in text: PSEN1: Ser169del

PubMed Link: 32962164

Variant Present in the following documents:

• Main text
• ijms-21-06867.pdf

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miR-204-3p/Nox4 Mediates Memory Deficits in a Mouse Model of Alzheimer's Disease.

Molecular Therapy : The Journal Of The American Society Of Gene Therapy

Tao, Wenyuan W; Yu, Linjie L; Shu, Shu S; Liu, Ying Y; Zhuang, Zi Z; Xu, Siyi S; Bao, Xinyu X; Gu, Yue Y; Cai, Fang F; Song, Weihong W; Xu, Yun Y; Zhu, Xiaolei X

Publication Date: 2021-01-06

Variant appearance in text: PSEN1: S169del

PubMed Link: 32950103

Variant Present in the following documents:

• Main text

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Gene mutations associated with early onset familial Alzheimer's disease in China: An overview and current status.

Molecular Genetics & Genomic Medicine

Qin, Qi Q; Yin, Yunsi Y; Wang, Yan Y; Lu, Yuanyuan Y; Tang, Yi Y; Jia, Jianping J

Publication Date: 2020-10

Variant appearance in text: PS1: Ser169del

PubMed Link: 32767553

Variant Present in the following documents:

• Main text
• MGG3-8-e1443.pdf

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The Genetics of Alzheimer's Disease in the Chinese Population.

International Journal Of Molecular Sciences

Gan, Chen-Ling CL; Zhang, Tao T; Lee, Tae Ho TH

Publication Date: 2020-03-30

Variant appearance in text: PSEN1: S169del

PubMed Link: 32235595

Variant Present in the following documents:

• Main text
• ijms-21-02381.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: Ser169del

PubMed Link: 31557888

Variant Present in the following documents:

• Main text
• ijms-20-04757.pdf

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Modeling Alzheimer's disease with iPSC-derived brain cells.

Molecular Psychiatry

Penney, Jay J; Ralvenius, William T WT; Tsai, Li-Huei LH

Publication Date: 2020-01

Variant appearance in text: PSEN1: S169del

PubMed Link: 31391546

Variant Present in the following documents:

• Main text

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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: S169del

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: S169del

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

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Modeling Alzheimer's disease with human iPS cells: advancements, lessons, and applications.

Neurobiology Of Disease

Essayan-Perez, Sofia S; Zhou, Bo B; Nabet, Amber M AM; Wernig, Marius M; Huang, Yu-Wen Alvin YA

Publication Date: 2019-10

Variant appearance in text: PSEN1: S169del

PubMed Link: 31202913

Variant Present in the following documents:

• Main text

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Opportunities and challenges for the use of induced pluripotent stem cells in modelling neurodegenerative disease.

Open Biology

Wu, Yi-Ying YY; Chiu, Feng-Lan FL; Yeh, Chan-Shien CS; Kuo, Hung-Chih HC

Publication Date: 2019-01-31

Variant appearance in text: PSEN1: S169del

PubMed Link: 30958120

Variant Present in the following documents:

• Main text
• rsob-9-180177.pdf

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The Use of Pluripotent Stem Cell-Derived Organoids to Study Extracellular Matrix Development during Neural Degeneration.

Cells

Yan, Yuanwei Y; Bejoy, Julie J; Marzano, Mark M; Li, Yan Y

Publication Date: 2019-03-14

Variant appearance in text: PSEN1: S169del

PubMed Link: 30875781

Variant Present in the following documents:

• Main text
• cells-08-00242.pdf

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Representing Diversity in the Dish: Using Patient-Derived in Vitro Models to Recreate the Heterogeneity of Neurological Disease.

Frontiers In Neuroscience

Ghaffari, Layla T LT; Starr, Alexander A; Nelson, Andrew T AT; Sattler, Rita R

Publication Date: 2018

Variant appearance in text: PSEN1: S169del

PubMed Link: 29479303

Variant Present in the following documents:

• Main text
• fnins-12-00056.pdf

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Early pathogenic event of Alzheimer's disease documented in iPSCs from patients with PSEN1 mutations.

Oncotarget

Yang, Juan J; Zhao, Hanzhi H; Ma, Yu Y; Shi, Guilai G; Song, Jian J; Tang, Yu Y; Li, Song S; Li, Ting T; Liu, Nan N; Tang, Fan F; Gu, Junjie J; Zhang, Lingling L; Zhang, Zhuohua Z; Zhang, Xiaohui X; Jin, Ying Y; Le, Weidong W

Publication Date: 2017-01-31

Variant appearance in text: PSEN1: S169del

PubMed Link: 27926491

Variant Present in the following documents:

• Main text
• oncotarget-08-7900-s001.pdf
• oncotarget-08-7900.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: Ser169del

PubMed Link: 27799753

Variant Present in the following documents:

• Main text
• cia-11-1467.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: Ser169del

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

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