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: 617G>C; Gly206Ala
The Caribbean-Hispanic Alzheimer's disease brain transcriptome reveals ancestry-specific disease mechanisms.
Neurobiology Of Disease
Felsky, Daniel D; Santa-Maria, Ismael I; Cosacak, Mehmet Ilyas MI; French, Leon L; Schneider, Julie A JA; Bennett, David A DA; De Jager, Philip L PL; Kizil, Caghan C; Tosto, Giuseppe G
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
Familial Alzheimer's Disease and Recessive Modifiers.
Molecular Neurobiology
Vélez, Jorge I JI; Lopera, Francisco F; Silva, Claudia T CT; Villegas, Andrés A; Espinosa, Lady G LG; Vidal, Oscar M OM; Mastronardi, Claudio A CA; Arcos-Burgos, Mauricio M
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
Rare Variants Imputation in Admixed Populations: Comparison Across Reference Panels and Bioinformatics Tools.
Frontiers In Genetics
Sariya, Sanjeev S; Lee, Joseph H JH; Mayeux, Richard R; Vardarajan, Badri N BN; Reyes-Dumeyer, Dolly D; Manly, Jennifer J JJ; Brickman, Adam M AM; Lantigua, Rafael R; Medrano, Martin M; Jimenez-Velazquez, Ivonne Z IZ; Tosto, Giuseppe G
Publication Date: 2019
Variant appearance in text: PSEN1: G206A; rs63750082
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
Targeting Neuroplasticity, Cardiovascular, and Cognitive-Associated Genomic Variants in Familial Alzheimer's Disease.
Molecular Neurobiology
Vélez, Jorge I JI; Lopera, Francisco F; Creagh, Penelope K PK; Piñeros, Laura B LB; Das, Debjani D; Cervantes-Henríquez, Martha L ML; Acosta-López, Johan E JE; Isaza-Ruget, Mario A MA; Espinosa, Lady G LG; Easteal, Simon S; Quintero, Gustavo A GA; Silva, Claudia Tamar CT; Mastronardi, Claudio A CA; Arcos-Burgos, Mauricio M
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
Excess Synaptojanin 1 Contributes to Place Cell Dysfunction and Memory Deficits in the Aging Hippocampus in Three Types of Alzheimer's Disease.
Cell Reports
Miranda, Andre M AM; Herman, Mathieu M; Cheng, Rong R; Nahmani, Eden E; Barrett, Geoffrey G; Micevska, Elizabeta E; Fontaine, Gaelle G; Potier, Marie-Claude MC; Head, Elizabeth E; Schmitt, Frederick A FA; Lott, Ira T IT; Jiménez-Velázquez, Ivonne Z IZ; Antonarakis, Stylianos E SE; Di Paolo, Gilbert G; Lee, Joseph H JH; Hussaini, S Abid SA; Marquer, Catherine C
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
Impairment of memory generalization in preclinical autosomal dominant Alzheimer's disease mutation carriers.
Neurobiology Of Aging
Petok, Jessica R JR; Myers, Catherine E CE; Pa, Judy J; Hobel, Zachary Z; Wharton, David M DM; Medina, Luis D LD; Casado, Maria M; Coppola, Giovanni G; Gluck, Mark A MA; Ringman, John M JM
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
TYROBP genetic variants in early-onset Alzheimer's disease.
Neurobiology Of Aging
Pottier, Cyril C; Ravenscroft, Thomas A TA; Brown, Patricia H PH; Finch, NiCole A NA; Baker, Matt M; Parsons, Meeia M; Asmann, Yan W YW; Ren, Yingxue Y; Christopher, Elizabeth E; Levitch, Denise D; van Blitterswijk, Marka M; Cruchaga, Carlos C; Campion, Dominique D; Nicolas, Gaël G; Richard, Anne-Claire AC; Guerreiro, Rita R; Bras, Jose T JT; Zuchner, Stephan S; Gonzalez, Michael A MA; Bu, Guojun G; Younkin, Steven S; Knopman, David S DS; Josephs, Keith A KA; Parisi, Joseph E JE; Petersen, Ronald C RC; Ertekin-Taner, Nilüfer N; Graff-Radford, Neill R NR; Boeve, Bradley F BF; Dickson, Dennis W DW; Rademakers, Rosa R
Next-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodies.
Neurobiology Of Disease
Geiger, Joshua T JT; Ding, Jinhui J; Crain, Barbara B; Pletnikova, Olga O; Letson, Christopher C; Dawson, Ted M TM; Rosenthal, Liana S LS; Pantelyat, Alexander A; Gibbs, J Raphael JR; Albert, Marilyn S MS; Hernandez, Dena G DG; Hillis, Argye E AE; Stone, David J DJ; Singleton, Andrew B AB; , ; Hardy, John A JA; Troncoso, Juan C JC; Scholz, Sonja W SW
Publication Date: 2016-10
Variant appearance in text: PSEN1: 617G>C; G206A; rs63750082
The presenilin 1 p.Gly206Ala mutation is a frequent cause of early-onset Alzheimer's disease in Hispanics in Florida.
American Journal Of Neurodegenerative Disease
Ravenscroft, Thomas A TA; Pottier, Cyril C; Murray, Melissa E ME; Baker, Matt M; Christopher, Elizabeth E; Levitch, Denise D; Brown, Patricia H PH; Barker, Warren W; Duara, Ranjan R; Greig-Custo, Maria M; Betancourt, Ana A; English, Mara M; Sun, Xiaoyan X; Ertekin-Taner, Nilüfer N; Graff-Radford, Neill R NR; Dickson, Dennis W DW; Rademakers, Rosa R
Publication Date: 2016
Variant appearance in text: PSEN1: 617G>C; rs63750082
A Mutation in DAOA Modifies the Age of Onset in PSEN1 E280A Alzheimer's Disease.
Neural Plasticity
Vélez, Jorge I JI; Rivera, Dora D; Mastronardi, Claudio A CA; Patel, Hardip R HR; Tobón, Carlos C; Villegas, Andrés A; Cai, Yeping Y; Easteal, Simon S; Lopera, Francisco F; Arcos-Burgos, Mauricio M
Neuropathology of Autosomal Dominant Alzheimer Disease in the National Alzheimer Coordinating Center Database.
Journal Of Neuropathology And Experimental Neurology
Ringman, John M JM; Monsell, Sarah S; Ng, Denise W DW; Zhou, Yan Y; Nguyen, Andy A; Coppola, Giovanni G; Van Berlo, Victoria V; Mendez, Mario F MF; Tung, Spencer S; Weintraub, Sandra S; Mesulam, Marek-Marsel MM; Bigio, Eileen H EH; Gitelman, Darren R DR; Fisher-Hubbard, Amanda O AO; Albin, Roger L RL; Vinters, Harry V HV
Genetic Modifiers of Age at Onset in Carriers of the G206A Mutation in PSEN1 With Familial Alzheimer Disease Among Caribbean Hispanics.
Jama Neurology
Lee, Joseph H JH; Cheng, Rong R; Vardarajan, Badri B; Lantigua, Rafael R; Reyes-Dumeyer, Dolly D; Ortmann, Ward W; Graham, Robert R RR; Bhangale, Tushar T; Behrens, Timothy W TW; Medrano, Martin M; Jiménez-Velázquez, Ivonne Z IZ; Mayeux, Richard R
Memory binding and white matter integrity in familial Alzheimer's disease.
Brain : A Journal Of Neurology
Parra, Mario A MA; Saarimäki, Heini H; Bastin, Mark E ME; Londoño, Ana C AC; Pettit, Lewis L; Lopera, Francisco F; Della Sala, Sergio S; Abrahams, Sharon S
Disease-related mutations among Caribbean Hispanics with familial dementia.
Molecular Genetics & Genomic Medicine
Lee, Joseph H JH; Kahn, Amanda A; Cheng, Rong R; Reitz, Christiane C; Vardarajan, Badri B; Lantigua, Rafael R; Medrano, Martin M; Jiménez-Velázquez, Ivonne Z IZ; Williamson, Jennifer J; Nagy, Peter P; Mayeux, Richard R
Publication Date: 2014-09
Variant appearance in text: PSEN1: 617G>C; Gly206Ala
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; ,
Symptom onset in autosomal dominant Alzheimer disease: a systematic review and meta-analysis.
Neurology
Ryman, Davis C DC; Acosta-Baena, Natalia N; Aisen, Paul S PS; Bird, Thomas T; Danek, Adrian A; Fox, Nick C NC; Goate, Alison A; Frommelt, Peter P; Ghetti, Bernardino B; Langbaum, Jessica B S JB; Lopera, Francisco F; Martins, Ralph R; Masters, Colin L CL; Mayeux, Richard P RP; McDade, Eric E; Moreno, Sonia S; Reiman, Eric M EM; Ringman, John M JM; Salloway, Steve S; Schofield, Peter R PR; Sperling, Reisa R; Tariot, Pierre N PN; Xiong, Chengjie C; Morris, John C JC; Bateman, Randall J RJ; ,
Convergence of pathology in dementia with Lewy bodies and Alzheimer's disease: a role for the novel interaction of alpha-synuclein and presenilin 1 in disease.
Brain : A Journal Of Neurology
Winslow, Ashley R AR; Moussaud, Simon S; Zhu, Liya L; Post, Kathryn L KL; Post, Katherine L KL; Dickson, Dennis W DW; Berezovska, Oksana O; McLean, Pamela J PJ
Regional distribution of synaptic markers and APP correlate with distinct clinicopathological features in sporadic and familial Alzheimer's disease.
Brain : A Journal Of Neurology
Shinohara, Mitsuru M; Fujioka, Shinsuke S; Murray, Melissa E ME; Wojtas, Aleksandra A; Baker, Matthew M; Rovelet-Lecrux, Anne A; Rademakers, Rosa R; Das, Pritam P; Parisi, Joseph E JE; Graff-Radford, Neill R NR; Petersen, Ronald C RC; Dickson, Dennis W DW; Bu, Guojun G
Evidence of recessive Alzheimer disease loci in a Caribbean Hispanic data set: genome-wide survey of runs of homozygosity.
Jama Neurology
Ghani, Mahdi M; Sato, Christine C; Lee, Joseph H JH; Reitz, Christiane C; Moreno, Danielle D; Mayeux, Richard R; St George-Hyslop, Peter P; Rogaeva, Ekaterina E
Acetylated tau neuropathology in sporadic and hereditary tauopathies.
The American Journal Of Pathology
Irwin, David J DJ; Cohen, Todd J TJ; Grossman, Murray M; Arnold, Steven E SE; McCarty-Wood, Elisabeth E; Van Deerlin, Vivianna M VM; Lee, Virginia M-Y VM; Trojanowski, John Q JQ