Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: PSEN1: 360A>T; Glu120Asp

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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PICALM and Alzheimer's Disease: An Update and Perspectives.

Cells

Ando, Kunie K; Nagaraj, Siranjeevi S; Küçükali, Fahri F; de Fisenne, Marie-Ange MA; Kosa, Andreea-Claudia AC; Doeraene, Emilie E; Lopez Gutierrez, Lidia L; Brion, Jean-Pierre JP; Leroy, Karelle K

Publication Date: 2022-12-10

Variant appearance in text: PSEN1: E120D

PubMed Link: 36552756

Variant Present in the following documents:

• cells-11-03994.pdf

View BVdb publication page

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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: Glu120Asp

PubMed Link: 36142879

Variant Present in the following documents:

• Main text
• ijms-23-10970.pdf

View BVdb publication page

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PSEN1 c.1292C<A Variant and Early-Onset Alzheimer's Disease: A Scoping Review.

Frontiers In Aging Neuroscience

Orozco-Barajas, Maribel M; Oropeza-Ruvalcaba, Yulisa Y; Canales-Aguirre, Alejandro A AA; Sánchez-González, Victor J VJ

Publication Date: 2022

Variant appearance in text: PSEN1: E120D

PubMed Link: 35959289

Variant Present in the following documents:

• Main text
• fnagi-14-860529.pdf

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The lipid phosphatase Synaptojanin 1 undergoes a significant alteration in expression and solubility and is associated with brain lesions in Alzheimer's disease.

Acta Neuropathologica Communications

Ando, Kunie K; Ndjim, Marième M; Turbant, Sabrina S; Fontaine, Gaëlle G; Pregoni, Gustavo G; Dauphinot, Luce L; Yilmaz, Zehra Z; Suain, Valérie V; Mansour, Salwa S; Authelet, Michèle M; De Dekker, Robert R; Leroy, Karelle K; Delatour, Benoît B; , ; Duyckaerts, Charles C; Potier, Marie-Claude MC; Brion, Jean-Pierre JP

Publication Date: 2020-06-03

Variant appearance in text: PSEN1: E120D

PubMed Link: 32493451

Variant Present in the following documents:

• 40478_2020_954_MOESM1_ESM.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: E120D

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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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: Glu120Asp

PubMed Link: 30200536

Variant Present in the following documents:

• Main text
• ijms-19-02604.pdf

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: Glu120Asp

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

View BVdb publication page

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Clinical, biological, and imaging features of monogenic Alzheimer's Disease.

Biomed Research International

Pilotto, Andrea A; Padovani, Alessandro A; Borroni, Barbara B

Publication Date: 2013

Variant appearance in text: PSEN1: E120D

PubMed Link: 24377094

Variant Present in the following documents:

• Main text

View BVdb publication page

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Using a genetically targeted sensor to investigate the role of presenilin-1 in ER Ca2+ levels and dynamics.

Molecular Biosystems

McCombs, Janet E JE; Gibson, Emily A EA; Palmer, Amy E AE

Publication Date: 2010-09

Variant appearance in text: PS1: E120D

PubMed Link: 20379593

Variant Present in the following documents:

• Main text

View BVdb publication page

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