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: 1276G>C; Ala426Pro

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Hybrid PET/MRI enables high-spatial resolution, quantitative imaging of amyloid plaques in an Alzheimer's disease mouse model.

Scientific Reports

Frost, Georgia R GR; Longo, Valerie V; Li, Thomas T; Jonas, Lauren A LA; Judenhofer, Martin M; Cherry, Simon S; Koutcher, Jason J; Lekaye, Carl C; Zanzonico, Pat P; Li, Yue-Ming YM

Publication Date: 2020-06-25

Variant appearance in text: PS1: A426P

PubMed Link: 32587315

Variant Present in the following documents:

• Main text

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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: A426P

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

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Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network.

Alzheimer'S Research & Therapy

Karch, Celeste M CM; Hernández, Damián D; Wang, Jen-Chyong JC; Marsh, Jacob J; Hewitt, Alex W AW; Hsu, Simon S; Norton, Joanne J; Levitch, Denise D; Donahue, Tamara T; Sigurdson, Wendy W; Ghetti, Bernardino B; Farlow, Martin M; Chhatwal, Jasmeer J; Berman, Sarah S; Cruchaga, Carlos C; Morris, John C JC; Bateman, Randall J RJ; , ; Pébay, Alice A; Goate, Alison M AM

Publication Date: 2018-07-25

Variant appearance in text: PSEN1: A426P

PubMed Link: 30045758

Variant Present in the following documents:

• Main text
• 13195_2018_Article_400.pdf

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Increased CSF neurogranin concentration is specific to Alzheimer disease.

Neurology

Wellington, Henrietta H; Paterson, Ross W RW; Portelius, Erik E; Törnqvist, Ulrika U; Magdalinou, Nadia N; Fox, Nick C NC; Blennow, Kaj K; Schott, Jonathan M JM; Zetterberg, Henrik H

Publication Date: 2016-03-01

Variant appearance in text: PSEN1: A426P

PubMed Link: 26826204

Variant Present in the following documents:

• Main text

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2014 Update of the Alzheimer's Disease Neuroimaging Initiative: A review of papers published since its inception.

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association

Weiner, Michael W MW; Veitch, Dallas P DP; Aisen, Paul S PS; Beckett, Laurel A LA; Cairns, Nigel J NJ; Cedarbaum, Jesse J; Green, Robert C RC; Harvey, Danielle D; Jack, Clifford R CR; Jagust, William W; Luthman, Johan J; Morris, John C JC; Petersen, Ronald C RC; Saykin, Andrew J AJ; Shaw, Leslie L; Shen, Li L; Schwarz, Adam A; Toga, Arthur W AW; Trojanowski, John Q JQ; ,

Publication Date: 2015-06

Variant appearance in text: PSEN1: A426P

PubMed Link: 26073027

Variant Present in the following documents:

• Main text

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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: Ala426Pro

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: PSEN1: Ala426Pro

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

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Reduced synaptic STIM2 expression and impaired store-operated calcium entry cause destabilization of mature spines in mutant presenilin mice.

Neuron

Sun, Suya S; Zhang, Hua H; Liu, Jie J; Popugaeva, Elena E; Xu, Nan-Jie NJ; Feske, Stefan S; White, Charles L CL; Bezprozvanny, Ilya I

Publication Date: 2014-04-02

Variant appearance in text: PS1: A426P

PubMed Link: 24698269

Variant Present in the following documents:

• Main text

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The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriers.

Plos Genetics

Benitez, Bruno A BA; Karch, Celeste M CM; Cai, Yefei Y; Jin, Sheng Chih SC; Cooper, Breanna B; Carrell, David D; Bertelsen, Sarah S; Chibnik, Lori L; Schneider, Julie A JA; Bennett, David A DA; , ; , ; Fagan, Anne M AM; Holtzman, David D; Morris, John C JC; Goate, Alison M AM; Cruchaga, Carlos C

Publication Date: 2013

Variant appearance in text: PSEN1: A426P; rs63751223

PubMed Link: 23990795

Variant Present in the following documents:

• Main text
• pgen.1003685.pdf

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Presenilins function in ER calcium leak and Alzheimer's disease pathogenesis.

Cell Calcium

Supnet, Charlene C; Bezprozvanny, Ilya I

Publication Date: 2011-09

Variant appearance in text: PS1: A426P

PubMed Link: 21663966

Variant Present in the following documents:

• Main text

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Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes.

Journal Of Alzheimer'S Disease : Jad

Nelson, Omar O; Supnet, Charlene C; Liu, Huarui H; Bezprozvanny, Ilya I

Publication Date: 2010

Variant appearance in text: PS1: A426P

PubMed Link: 20634584

Variant Present in the following documents:

• Main text

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Amyloid deposition begins in the striatum of presenilin-1 mutation carriers from two unrelated pedigrees.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience

Klunk, William E WE; Price, Julie C JC; Mathis, Chester A CA; Tsopelas, Nicholas D ND; Lopresti, Brian J BJ; Ziolko, Scott K SK; Bi, Wenzhu W; Hoge, Jessica A JA; Cohen, Ann D AD; Ikonomovic, Milos D MD; Saxton, Judith A JA; Snitz, Beth E BE; Pollen, Daniel A DA; Moonis, Majaz M; Lippa, Carol F CF; Swearer, Joan M JM; Johnson, Keith A KA; Rentz, Dorene M DM; Fischman, Alan J AJ; Aizenstein, Howard J HJ; DeKosky, Steven T ST

Publication Date: 2007-06-06

Variant appearance in text: PS1: A426P

PubMed Link: 17553989

Variant Present in the following documents:

• Main text

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