Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.
Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
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; ,
Investigating APOE, APP-Aβ metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease.
Scientific Reports
Blumenau, Sonja S; Foddis, Marco M; Müller, Susanne S; Holtgrewe, Manuel M; Bentele, Kajetan K; Berchtold, Daniel D; Beule, Dieter D; Dirnagl, Ulrich U; Sassi, Celeste C
Publication Date: 2020-04-28
Variant appearance in text: PSEN2: 185G>A; R62H; rs58973334
Alternative splicing in a presenilin 2 variant associated with Alzheimer disease.
Annals Of Clinical And Translational Neurology
Braggin, Jacquelyn E JE; Bucks, Stephanie A SA; Course, Meredith M MM; Smith, Carole L CL; Sopher, Bryce B; Osnis, Leah L; Shuey, Kiel D KD; Domoto-Reilly, Kimiko K; Caso, Christina C; Kinoshita, Chizuru C; Scherpelz, Kathryn P KP; Cross, Chloe C; Grabowski, Thomas T; Nik, Seyyed H M SHM; Newman, Morgan M; Garden, Gwenn A GA; Leverenz, James B JB; Tsuang, Debby D; Latimer, Caitlin C; Gonzalez-Cuyar, Luis F LF; Keene, Christopher Dirk CD; Morrison, Richard S RS; Rhoads, Kristoffer K; Wijsman, Ellen M EM; Dorschner, Michael O MO; Lardelli, Michael M; Young, Jessica E JE; Valdmanis, Paul N PN; Bird, Thomas D TD; Jayadev, Suman S
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
TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.
Nature Communications
Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N
Publication Date: 2018-11-01
Variant appearance in text: PSEN2: R62H; rs58973334
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
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
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
Presenilin Mutation Suppresses Lung Tumorigenesis via Inhibition of Peroxiredoxin 6 Activity and Expression.
Theranostics
Park, Mi Hee MH; Yun, Hyung-Mun HM; Hwang, Chul Ju CJ; Park, Sang Ick SI; Han, Sang Bae SB; Hwang, Dae Youn DY; Yoon, Do-Young DY; Kim, Sanghyeon S; Hong, Jin Tae JT
Comprehensive Screening for Disease Risk Variants in Early-Onset Alzheimer's Disease Genes in African Americans Identifies Novel PSEN Variants.
Journal Of Alzheimer'S Disease : Jad
N'Songo, Aurelie A; Carrasquillo, Minerva M MM; Wang, Xue X; Nguyen, Thuy T; Asmann, Yan Y; Younkin, Steven G SG; Allen, Mariet M; Duara, Ranjan R; Custo, Maria T Greig MT; Graff-Radford, Neill N; Ertekin-Taner, Nilüfer N
Publication Date: 2017
Variant appearance in text: PSEN2: Arg62His; rs58973334
Rare variants in β-Amyloid precursor protein (APP) and Parkinson's disease.
European Journal Of Human Genetics : Ejhg
Schulte, Eva C EC; Fukumori, Akio A; Mollenhauer, Brit B; Hor, Hyun H; Arzberger, Thomas T; Perneczky, Robert R; Kurz, Alexander A; Diehl-Schmid, Janine J; Hüll, Michael M; Lichtner, Peter P; Eckstein, Gertrud G; Zimprich, Alexander A; Haubenberger, Dietrich D; Pirker, Walter W; Brücke, Thomas T; Bereznai, Benjamin B; Molnar, Maria J MJ; Lorenzo-Betancor, Oswaldo O; Pastor, Pau P; Peters, Annette A; Gieger, Christian C; Estivill, Xavier X; Meitinger, Thomas T; Kretzschmar, Hans A HA; Trenkwalder, Claudia C; Haass, Christian C; Winkelmann, Juliane J
Publication Date: 2015-10
Variant appearance in text: PSEN2: 185G>A; R62H; rs58973334
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
Age-related mutations associated with clonal hematopoietic expansion and malignancies.
Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
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; ,
Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease.
Neurobiology Of Aging
Sassi, Celeste C; Guerreiro, Rita R; Gibbs, Raphael R; Ding, Jinhui J; Lupton, Michelle K MK; Troakes, Claire C; Al-Sarraj, Safa S; Niblock, Michael M; Gallo, Jean-Marc JM; Adnan, Jihad J; Killick, Richard R; Brown, Kristelle S KS; Medway, Christopher C; Lord, Jenny J; Turton, James J; Bras, Jose J; , ; Morgan, Kevin K; Powell, John F JF; Singleton, Andrew A; Hardy, John J
Publication Date: 2014-12
Variant appearance in text: PSEN2: 185G>A; R62H; rs58973334
Loss of presenilin 2 is associated with increased iPLA2 activity and lung tumor development.
Oncogene
Yun, H-M HM; Park, M H MH; Kim, D H DH; Ahn, Y J YJ; Park, K-R KR; Kim, T M TM; Yun, N Y NY; Jung, Y S YS; Hwang, D Y DY; Yoon, D Y DY; Han, S B SB; Hong, J T JT
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
Publication Date: 2013-11
Variant appearance in text: PSEN2: R62H; rs58973334
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: PSEN2: R62H; rs58973334
C9ORF72 repeat expansions and other FTD gene mutations in a clinical AD patient series from Mayo Clinic.
American Journal Of Neurodegenerative Disease
Wojtas, Aleksandra A; Heggeli, Kristin A KA; Finch, Nicole N; Baker, Matt M; Dejesus-Hernandez, Mariely M; Younkin, Steven G SG; Dickson, Dennis W DW; Graff-Radford, Neill R NR; Rademakers, Rosa R
Publication Date: 2012
Variant appearance in text: PSEN2: 185G>A; Arg62His; rs58973334