Publications:

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Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer's Disease.

International Journal Of Molecular Sciences

Yang, Youngsoon Y; Bagyinszky, Eva E; An, Seong Soo A SSA

Publication Date: 2023-05-08

Variant appearance in text: PSEN1: Ala79Val

PubMed Link: 37176125

Variant Present in the following documents:

• Main text
• ijms-24-08417.pdf

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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: 236C>T; Ala79Val

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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Single-cell and single-nuclei RNA sequencing as powerful tools to decipher cellular heterogeneity and dysregulation in neurodegenerative diseases.

Frontiers In Cell And Developmental Biology

Cuevas-Diaz Duran, Raquel R; González-Orozco, Juan Carlos JC; Velasco, Iván I; Wu, Jia Qian JQ

Publication Date: 2022

Variant appearance in text: PSEN1: A79V

PubMed Link: 36353512

Variant Present in the following documents:

• Main text
• fcell-10-884748.pdf

View BVdb publication page

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Metabolomic and lipidomic signatures in autosomal dominant and late-onset Alzheimer's disease brains.

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

Novotny, Brenna C BC; Fernandez, Maria Victoria MV; Wang, Ciyang C; Budde, John P JP; Bergmann, Kristy K; Eteleeb, Abdallah M AM; Bradley, Joseph J; Webster, Carol C; Ebl, Curtis C; Norton, Joanne J; Gentsch, Jen J; Dube, Umber U; Wang, Fengxian F; Morris, John C JC; Bateman, Randall J RJ; Perrin, Richard J RJ; McDade, Eric E; Xiong, Chengjie C; Chhatwal, Jasmeer J; , ; , ; , ; Goate, Alison A; Farlow, Martin M; Schofield, Peter P; Chui, Helena H; Karch, Celeste M CM; Cruchaga, Carlos C; Benitez, Bruno A BA; Harari, Oscar O

Publication Date: 2022-10-17

Variant appearance in text: PSEN1: A79V

PubMed Link: 36251323

Variant Present in the following documents:

• NIHMS1865189-supplement-SUPPORTING_INFORMATION_3.xlsx, sheet 1

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: Ala79Val

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: A79V

PubMed Link: 35959289

Variant Present in the following documents:

• Main text
• fnagi-14-860529.pdf

View BVdb publication page

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Mapping the genetic landscape of early-onset Alzheimer's disease in a cohort of 36 families.

Alzheimer'S Research & Therapy

Mol, Merel O MO; van der Lee, Sven J SJ; Hulsman, Marc M; Pijnenburg, Yolande A L YAL; Scheltens, Phillip P; , ; Seelaar, Harro H; van Swieten, John C JC; Kaat, Laura Donker LD; Holstege, Henne H; van Rooij, Jeroen G J JGJ

Publication Date: 2022-06-01

Variant appearance in text: PSEN1: A79V

PubMed Link: 35650585

Variant Present in the following documents:

• Main text
• 13195_2022_Article_1018.pdf

View BVdb publication page

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Are transient protein-protein interactions more dispensable?

Plos Computational Biology

Ghadie, Mohamed Ali MA; Xia, Yu Y

Publication Date: 2022-04

Variant appearance in text: PSEN1: 236C>T; Ala79Val

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 2
• pcbi.1010013.s002.xlsx, sheet 4

View BVdb publication page

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Aβ profiles generated by Alzheimer's disease causing PSEN1 variants determine the pathogenicity of the mutation and predict age at disease onset.

Molecular Psychiatry

Petit, Dieter D; Fernández, Sara Gutiérrez SG; Zoltowska, Katarzyna Marta KM; Enzlein, Thomas T; Ryan, Natalie S NS; O'Connor, Antoinette A; Szaruga, Maria M; Hill, Elizabeth E; Vandenberghe, Rik R; Fox, Nick C NC; Chávez-Gutiérrez, Lucía L

Publication Date: 2022-06

Variant appearance in text: PSEN1: A79V

PubMed Link: 35365805

Variant Present in the following documents:

• Main text
• 41380_2022_Article_1518.pdf

View BVdb publication page

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The National Institute on Aging Late-Onset Alzheimer's Disease Family Based Study: A resource for genetic discovery.

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

Reyes-Dumeyer, Dolly D; Faber, Kelley K; Vardarajan, Badri B; Goate, Alison A; Renton, Alan A; Chao, Michael M; Boeve, Brad B; Cruchaga, Carlos C; Pericak-Vance, Margaret M; Haines, Jonathan L JL; Rosenberg, Roger R; Tsuang, Debby D; Sweet, Robert A RA; Bennett, David A DA; Wilson, Robert S RS; Foroud, Tatiana T; Mayeux, Richard R

Publication Date: 2022-10

Variant appearance in text: PSEN1: A79V

PubMed Link: 34978149

Variant Present in the following documents:

• Main text
• ALZ-18-1889.pdf

View BVdb publication page

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Neural Derivates of Canine Induced Pluripotent Stem Cells-Like Cells From a Mild Cognitive Impairment Dog.

Frontiers In Veterinary Science

Chandrasekaran, Abinaya A; Thomsen, Barbara Blicher BB; Agerholm, Jørgen Steen JS; Pessôa, Laís Vicari de Figueiredo LVF; Godoy Pieri, Naira Caroline NC; Sabaghidarmiyan, Vahideh V; Langley, Katarina K; Kolko, Miriam M; de Andrade, André Furugen Cesar AFC; Bressan, Fabiana Fernandes FF; Hyttel, Poul P; Berendt, Mette M; Freude, Kristine K

Publication Date: 2021

Variant appearance in text: PSEN1: 236C>T; A79V

PubMed Link: 34805331

Variant Present in the following documents:

• Main text
• fvets-08-725386.pdf

View BVdb publication page

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Gene Editing and Alzheimer's Disease: Is There Light at the End of the Tunnel?

Frontiers In Genome Editing

Stepanichev, Mikhail M

Publication Date: 2020

Variant appearance in text: PSEN1: A79V

PubMed Link: 34713213

Variant Present in the following documents:

• fgeed-02-00004.pdf

View BVdb publication page

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Replacing the SpCas9 HNH domain by deaminases generates compact base editors with an alternative targeting scope.

Molecular Therapy. Nucleic Acids

Villiger, Lukas L; Schmidheini, Lukas L; Mathis, Nicolas N; Rothgangl, Tanja T; Marquart, Kim K; Schwank, Gerald G

Publication Date: 2021-12-03

Variant appearance in text: PSEN1: 236C>T; Ala79Val

PubMed Link: 34631280

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Genetic Architecture and Molecular, Imaging and Prodromic Markers in Dementia with Lewy Bodies: State of the Art, Opportunities and Challenges.

International Journal Of Molecular Sciences

Combi, Romina R; Salsone, Maria M; Villa, Chiara C; Ferini-Strambi, Luigi L

Publication Date: 2021-04-12

Variant appearance in text: PSEN1: Ala79Val

PubMed Link: 33921279

Variant Present in the following documents:

• Main text

View BVdb publication page

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CRISPR-Cas9: A Preclinical and Clinical Perspective for the Treatment of Human Diseases.

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

Sharma, Garima G; Sharma, Ashish Ranjan AR; Bhattacharya, Manojit M; Lee, Sang-Soo SS; Chakraborty, Chiranjib C

Publication Date: 2021-02-03

Variant appearance in text: PSEN1: A79V

PubMed Link: 33238136

Variant Present in the following documents:

• Main text

View BVdb publication page

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CRISPR-Cas9: A Promising Genome Editing Therapeutic Tool for Alzheimer's Disease-A Narrative Review.

Neurology And Therapy

Barman, Nirmal Chandra NC; Khan, Niuz Morshed NM; Islam, Maidul M; Nain, Zulkar Z; Roy, Rajib Kanti RK; Haque, Anwarul A; Barman, Shital Kumar SK

Publication Date: 2020-12

Variant appearance in text: PSEN1: A79V

PubMed Link: 33089409

Variant Present in the following documents:

• 40120_2020_Article_218.pdf

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Presenilin1 familial Alzheimer disease mutants inactivate EFNB1- and BDNF-dependent neuroprotection against excitotoxicity by affecting neuroprotective complexes of N-methyl-d-aspartate receptor.

Brain Communications

Al Rahim, Md M; Yoon, Yonejung Y; Dimovasili, Christina C; Shao, Zhiping Z; Huang, Qian Q; Zhang, Emily E; Kezunovic, Nebojsa N; Chen, Lei L; Schaffner, Adam A; Huntley, George W GW; Ubarretxena-Belandia, Iban I; Georgakopoulos, Anastasios A; Robakis, Nikolaos K NK

Publication Date: 2020

Variant appearance in text: PS1: A79V

PubMed Link: 33005890

Variant Present in the following documents:

• Main text

View BVdb publication page

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Lack of APOE Christchurch variant in five age of onset outliers with PSEN1, PSEN2 Alzheimer's disease and MAPT frontotemporal dementia.

Journal Of The Neurological Sciences

Yu, Chang-En CE; Chen, Sunny S; Jayadev, Suman S; Bird, Thomas T

Publication Date: 2020-11-15

Variant appearance in text: PSEN1: A79V

PubMed Link: 32977230

Variant Present in the following documents:

• Main text

View BVdb publication page

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Amyloid-β1-43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations.

Alzheimer'S Research & Therapy

Perrone, Federica F; Bjerke, Maria M; Hens, Elisabeth E; Sieben, Anne A; Timmers, Maarten M; De Roeck, Arne A; Vandenberghe, Rik R; Sleegers, Kristel K; Martin, Jean-Jacques JJ; De Deyn, Peter P PP; Engelborghs, Sebastiaan S; van der Zee, Julie J; Van Broeckhoven, Christine C; Cacace, Rita R; ,

Publication Date: 2020-09-11

Variant appearance in text: PSEN1: A79V

PubMed Link: 32917274

Variant Present in the following documents:

• Main text
• 13195_2020_Article_676.pdf

View BVdb publication page

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The Impact of CRISPR-Cas9 on Age-related Disorders: From Pathology to Therapy.

Aging And Disease

Caobi, Allen A; Dutta, Rajib Kumar RK; Garbinski, Luis D LD; Esteban-Lopez, Maria M; Ceyhan, Yasemin Y; Andre, Mickensone M; Manevski, Marko M; Ojha, Chet Raj CR; Lapierre, Jessica J; Tiwari, Sneham S; Parira, Tiyash T; El-Hage, Nazira N

Publication Date: 2020-07

Variant appearance in text: PSEN1: A79V

PubMed Link: 32765953

Variant Present in the following documents:

• Main text
• ad-11-4-895.pdf

View BVdb publication page

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Applying gene-editing technology to elucidate the functional consequence of genetic and epigenetic variation in Alzheimer's disease.

Brain Pathology (Zurich, Switzerland)

Schrauben, Michael M; Dempster, Emma E; Lunnon, Katie K

Publication Date: 2020-09

Variant appearance in text: PSEN1: A79V

PubMed Link: 32654206

Variant Present in the following documents:

• Main text

View BVdb publication page

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Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2.

Neurobiology Of Disease

Hsu, Simon S; Pimenova, Anna A AA; Hayes, Kimberly K; Villa, Juan A JA; Rosene, Matthew J MJ; Jere, Madhavi M; Goate, Alison M AM; Karch, Celeste M CM

Publication Date: 2020-06

Variant appearance in text: PSEN1: A79V

PubMed Link: 32087291

Variant Present in the following documents:

• Main text
• nihms-1588025.pdf
• NIHMS1588025-supplement-Supplemental_Table.xlsx, sheet 2

View BVdb publication page

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Current status and future prospects of stem cell therapy in Alzheimer's disease.

Neural Regeneration Research

Zhang, Fu-Qiang FQ; Jiang, Jin-Lan JL; Zhang, Jing-Tian JT; Niu, Han H; Fu, Xue-Qi XQ; Zeng, Lin-Lin LL

Publication Date: 2020-02

Variant appearance in text: PSEN1: A79V

PubMed Link: 31552889

Variant Present in the following documents:

• NRR-15-242.pdf

View BVdb publication page

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A single-nuclei RNA sequencing study of Mendelian and sporadic AD in the human brain.

Alzheimer'S Research & Therapy

Del-Aguila, Jorge L JL; Li, Zeran Z; Dube, Umber U; Mihindukulasuriya, Kathie A KA; Budde, John P JP; Fernandez, Maria Victoria MV; Ibanez, Laura L; Bradley, Joseph J; Wang, Fengxian F; Bergmann, Kristy K; Davenport, Richard R; Morris, John C JC; Holtzman, David M DM; Perrin, Richard J RJ; Benitez, Bruno A BA; Dougherty, Joseph J; Cruchaga, Carlos C; Harari, Oscar O

Publication Date: 2019-08-09

Variant appearance in text: PSEN1: A79V

PubMed Link: 31399126

Variant Present in the following documents:

• Main text
• 13195_2019_Article_524.pdf

View BVdb publication page

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Estimating dispensable content in the human interactome.

Nature Communications

Ghadie, Mohamed M; Xia, Yu Y

Publication Date: 2019-07-19

Variant appearance in text: PSEN1: 236C>T; Ala79Val

PubMed Link: 31324802

Variant Present in the following documents:

• 41467_2019_11180_MOESM8_ESM.xlsx, sheet 4
• 41467_2019_11180_MOESM6_ESM.xlsx, sheet 4

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: A79V

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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Association of Rare Coding Mutations With Alzheimer Disease and Other Dementias Among Adults of European Ancestry.

Jama Network Open

Patel, Devanshi D; Mez, Jesse J; Vardarajan, Badri N BN; Staley, Lyndsay L; Chung, Jaeyoon J; Zhang, Xiaoling X; Farrell, John J JJ; Rynkiewicz, Michael J MJ; Cannon-Albright, Lisa A LA; Teerlink, Craig C CC; Stevens, Jeffery J; Corcoran, Christopher C; Gonzalez Murcia, Josue D JD; Lopez, Oscar L OL; Mayeux, Richard R; Haines, Jonathan L JL; Pericak-Vance, Margaret A MA; Schellenberg, Gerard G; Kauwe, John S K JSK; Lunetta, Kathryn L KL; Farrer, Lindsay A LA; ,

Publication Date: 2019-03-01

Variant appearance in text: rs63749824

PubMed Link: 30924900

Variant Present in the following documents:

• Main text

View BVdb publication page

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Important advances in Alzheimer's disease from the use of induced pluripotent stem cells.

Journal Of Biomedical Science

Majolo, Fernanda F; Marinowic, Daniel Rodrigo DR; Machado, Denise Cantarelli DC; Da Costa, Jaderson Costa JC

Publication Date: 2019-02-06

Variant appearance in text: PSEN1: A79V

PubMed Link: 30728025

Variant Present in the following documents:

• Main text
• 12929_2019_Article_501.pdf

View BVdb publication page

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Early-onset Alzheimer Disease and Its Variants.

Continuum (Minneapolis, Minn.)

Mendez, Mario F MF

Publication Date: 2019-02

Variant appearance in text: PSEN1: A79V

PubMed Link: 30707186

Variant Present in the following documents:

• Main text

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: PSEN1: A79V; rs63749824

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Dementia with Lewy bodies: an update and outlook.

Molecular Neurodegeneration

Outeiro, Tiago Fleming TF; Koss, David J DJ; Erskine, Daniel D; Walker, Lauren L; Kurzawa-Akanbi, Marzena M; Burn, David D; Donaghy, Paul P; Morris, Christopher C; Taylor, John-Paul JP; Thomas, Alan A; Attems, Johannes J; McKeith, Ian I

Publication Date: 2019-01-21

Variant appearance in text: PSEN1: A79V; rs63749824

PubMed Link: 30665447

Variant Present in the following documents:

• Main text

View BVdb publication page

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Integrative system biology analyses of CRISPR-edited iPSC-derived neurons and human brains reveal deficiencies of presynaptic signaling in FTLD and PSP.

Translational Psychiatry

Jiang, Shan S; Wen, Natalie N; Li, Zeran Z; Dube, Umber U; Del Aguila, Jorge J; Budde, John J; Martinez, Rita R; Hsu, Simon S; Fernandez, Maria V MV; Cairns, Nigel J NJ; , ; , ; Harari, Oscar O; Cruchaga, Carlos C; Karch, Celeste M CM

Publication Date: 2018-12-13

Variant appearance in text: PSEN1: A79V

PubMed Link: 30546007

Variant Present in the following documents:

• Main text

View BVdb publication page

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The role of de novo mutations in adult-onset neurodegenerative disorders.

Acta Neuropathologica

Nicolas, Gaël G; Veltman, Joris A JA

Publication Date: 2019-02

Variant appearance in text: PSEN1: A79V

PubMed Link: 30478624

Variant Present in the following documents:

• Main text

View BVdb publication page

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Modelling Sporadic Alzheimer's Disease Using Induced Pluripotent Stem Cells.

Neurochemical Research

Rowland, Helen A HA; Hooper, Nigel M NM; Kellett, Katherine A B KAB

Publication Date: 2018-12

Variant appearance in text: PSEN1: A79V

PubMed Link: 30387070

Variant Present in the following documents:

• 11064_2018_Article_2663.pdf

View BVdb publication page

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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: A79V

PubMed Link: 30045758

Variant Present in the following documents:

• Main text
• 13195_2018_Article_400.pdf

View BVdb publication page

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Discovery and validation of autosomal dominant Alzheimer's disease mutations.

Alzheimer'S Research & Therapy

Hsu, Simon S; Gordon, Brian A BA; Hornbeck, Russ R; Norton, Joanne B JB; Levitch, Denise D; Louden, Adia A; Ziegemeier, Ellen E; Laforce, Robert R; Chhatwal, Jasmeer J; Day, Gregory S GS; McDade, Eric E; Morris, John C JC; Fagan, Anne M AM; Benzinger, Tammie L S TLS; Goate, Alison M AM; Cruchaga, Carlos C; Bateman, Randall J RJ; , ; Karch, Celeste M CM

Publication Date: 2018-07-18

Variant appearance in text: PSEN1: A79V

PubMed Link: 30021643

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variants associated with Alzheimer's disease confer different cerebral cortex cell-type population structure.

Genome Medicine

Li, Zeran Z; Del-Aguila, Jorge L JL; Dube, Umber U; Budde, John J; Martinez, Rita R; Black, Kathleen K; Xiao, Qingli Q; Cairns, Nigel J NJ; , ; Dougherty, Joseph D JD; Lee, Jin-Moo JM; Morris, John C JC; Bateman, Randall J RJ; Karch, Celeste M CM; Cruchaga, Carlos C; Harari, Oscar O

Publication Date: 2018-06-08

Variant appearance in text: PSEN1: A79V

PubMed Link: 29880032

Variant Present in the following documents:

• Main text

View BVdb publication page

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Reduced penetrance of the PSEN1 H163Y autosomal dominant Alzheimer mutation: a 22-year follow-up study.

Alzheimer'S Research & Therapy

Thordardottir, Steinunn S; Rodriguez-Vieitez, Elena E; Almkvist, Ove O; Ferreira, Daniel D; Saint-Aubert, Laure L; Kinhult-Ståhlbom, Anne A; Thonberg, Håkan H; Schöll, Michael M; Westman, Eric E; Wall, Anders A; Eriksdotter, Maria M; Zetterberg, Henrik H; Blennow, Kaj K; Nordberg, Agneta A; Graff, Caroline C

Publication Date: 2018-05-10

Variant appearance in text: PSEN1: A79V

PubMed Link: 29747683

Variant Present in the following documents:

• Main text
• 13195_2018_Article_374.pdf

View BVdb publication page

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Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease.

Frontiers In Neuroscience

Ibanez, Laura L; Dube, Umber U; Davis, Albert A AA; Fernandez, Maria V MV; Budde, John J; Cooper, Breanna B; Diez-Fairen, Monica M; Ortega-Cubero, Sara S; Pastor, Pau P; Perlmutter, Joel S JS; Cruchaga, Carlos C; Benitez, Bruno A BA

Publication Date: 2018

Variant appearance in text: PSEN1: A79V

PubMed Link: 29692703

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of missing variants by combining multiple analytic pipelines.

Bmc Bioinformatics

Ren, Yingxue Y; Reddy, Joseph S JS; Pottier, Cyril C; Sarangi, Vivekananda V; Tian, Shulan S; Sinnwell, Jason P JP; McDonnell, Shannon K SK; Biernacka, Joanna M JM; Carrasquillo, Minerva M MM; Ross, Owen A OA; Ertekin-Taner, Nilüfer N; Rademakers, Rosa R; Hudson, Matthew M; Mainzer, Liudmila Sergeevna LS; Asmann, Yan W YW

Publication Date: 2018-04-16

Variant appearance in text: PSEN1: A79V

PubMed Link: 29661148

Variant Present in the following documents:

• Main text
• 12859_2018_Article_2151.pdf
• 12859_2018_2151_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Genome-editing applications of CRISPR-Cas9 to promote in vitro studies of Alzheimer's disease.

Clinical Interventions In Aging

Giau, Vo Van VV; Lee, Hyon H; Shim, Kyu Hwan KH; Bagyinszky, Eva E; An, Seong Soo A SSA

Publication Date: 2018

Variant appearance in text: PSEN1: A79V

PubMed Link: 29445268

Variant Present in the following documents:

• Main text
• cia-13-221.pdf

View BVdb publication page

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Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease.

Plos Genetics

Fernández, Maria Victoria MV; Kim, Jong Hun JH; Budde, John P JP; Black, Kathleen K; Medvedeva, Alexandra A; Saef, Ben B; Deming, Yuetiva Y; Del-Aguila, Jorge J; Ibañez, Laura L; Dube, Umber U; Harari, Oscar O; Norton, Joanne J; Chasse, Rachel R; Morris, John C JC; Goate, Alison A; , ; , ; Cruchaga, Carlos C

Publication Date: 2017-11

Variant appearance in text: PSEN1: Ala79Val; rs63749824

PubMed Link: 29091718

Variant Present in the following documents:

• Main text
• pgen.1007045.pdf

View BVdb publication page

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