Alzheimer's disease associated AKAP9 I2558M mutation alters posttranslational modification and interactome of tau and cellular functions in CRISPR-edited human neuronal cells.
Aging Cell
You, Yang Y; Hersh, Samuel W SW; Aslebagh, Roshanak R; Shaffer, Scott A SA; Ikezu, Seiko S; Mez, Jesse J; Lunetta, Kathryn L KL; Logue, Mark W MW; Farrer, Lindsay A LA; Ikezu, Tsuneya T
Comparative genomics of primary prostate cancer and paired metastases: insights from 12 molecular case studies.
The Journal Of Pathology
Cyrta, Joanna J; Prandi, Davide D; Arora, Arshi A; Hovelson, Daniel H DH; Sboner, Andrea A; Rodriguez, Antonio A; Fedrizzi, Tarcisio T; Beltran, Himisha H; Robinson, Dan R DR; Gopalan, Anuradha A; True, Lawrence L; Nelson, Peter S PS; Robinson, Brian D BD; Mosquera, Juan Miguel JM; Tomlins, Scott A SA; Shen, Ronglai R; Demichelis, Francesca F; Rubin, Mark A MA
Association of low-frequency and rare coding variants with information processing speed.
Translational Psychiatry
Bressler, Jan J; Davies, Gail G; Smith, Albert V AV; Saba, Yasaman Y; Bis, Joshua C JC; Jian, Xueqiu X; Hayward, Caroline C; Yanek, Lisa L; Smith, Jennifer A JA; Mirza, Saira S SS; Wang, Ruiqi R; Adams, Hieab H H HHH; Becker, Diane D; Boerwinkle, Eric E; Campbell, Archie A; Cox, Simon R SR; Eiriksdottir, Gudny G; Fawns-Ritchie, Chloe C; Gottesman, Rebecca F RF; Grove, Megan L ML; Guo, Xiuqing X; Hofer, Edith E; Kardia, Sharon L R SLR; Knol, Maria J MJ; Koini, Marisa M; Lopez, Oscar L OL; Marioni, Riccardo E RE; Nyquist, Paul P; Pattie, Alison A; Polasek, Ozren O; Porteous, David J DJ; Rudan, Igor I; Satizabal, Claudia L CL; Schmidt, Helena H; Schmidt, Reinhold R; Sidney, Stephen S; Simino, Jeannette J; Smith, Blair H BH; Turner, Stephen T ST; van der Lee, Sven J SJ; Ware, Erin B EB; Whitmer, Rachel A RA; Yaffe, Kristine K; Yang, Qiong Q; Zhao, Wei W; Gudnason, Vilmundur V; Launer, Lenore J LJ; Fitzpatrick, Annette L AL; Psaty, Bruce M BM; Fornage, Myriam M; Arfan Ikram, M M; van Duijn, Cornelia M CM; Seshadri, Sudha S; Mosley, Thomas H TH; Deary, Ian J IJ
Association of low-frequency and rare coding variants with information processing speed.
Translational Psychiatry
Bressler, Jan J; Davies, Gail G; Smith, Albert V AV; Saba, Yasaman Y; Bis, Joshua C JC; Jian, Xueqiu X; Hayward, Caroline C; Yanek, Lisa L; Smith, Jennifer A JA; Mirza, Saira S SS; Wang, Ruiqi R; Adams, Hieab H H HHH; Becker, Diane D; Boerwinkle, Eric E; Campbell, Archie A; Cox, Simon R SR; Eiriksdottir, Gudny G; Fawns-Ritchie, Chloe C; Gottesman, Rebecca F RF; Grove, Megan L ML; Guo, Xiuqing X; Hofer, Edith E; Kardia, Sharon L R SLR; Knol, Maria J MJ; Koini, Marisa M; Lopez, Oscar L OL; Marioni, Riccardo E RE; Nyquist, Paul P; Pattie, Alison A; Polasek, Ozren O; Porteous, David J DJ; Rudan, Igor I; Satizabal, Claudia L CL; Schmidt, Helena H; Schmidt, Reinhold R; Sidney, Stephen S; Simino, Jeannette J; Smith, Blair H BH; Turner, Stephen T ST; van der Lee, Sven J SJ; Ware, Erin B EB; Whitmer, Rachel A RA; Yaffe, Kristine K; Yang, Qiong Q; Zhao, Wei W; Gudnason, Vilmundur V; Launer, Lenore J LJ; Fitzpatrick, Annette L AL; Psaty, Bruce M BM; Fornage, Myriam M; Arfan Ikram, M M; van Duijn, Cornelia M CM; Seshadri, Sudha S; Mosley, Thomas H TH; Deary, Ian J IJ
Novel Alzheimer Disease Risk Loci and Pathways in African American Individuals Using the African Genome Resources Panel: A Meta-analysis.
Jama Neurology
Kunkle, Brian W BW; Schmidt, Michael M; Klein, Hans-Ulrich HU; Naj, Adam C AC; Hamilton-Nelson, Kara L KL; Larson, Eric B EB; Evans, Denis A DA; De Jager, Phil L PL; Crane, Paul K PK; Buxbaum, Joe D JD; Ertekin-Taner, Nilufer N; Barnes, Lisa L LL; Fallin, M Daniele MD; Manly, Jennifer J JJ; Go, Rodney C P RCP; Obisesan, Thomas O TO; Kamboh, M Ilyas MI; Bennett, David A DA; Hall, Kathleen S KS; Goate, Alison M AM; Foroud, Tatiana M TM; Martin, Eden R ER; Wang, Li-Sao LS; Byrd, Goldie S GS; Farrer, Lindsay A LA; Haines, Jonathan L JL; Schellenberg, Gerard D GD; Mayeux, Richard R; Pericak-Vance, Margaret A MA; Reitz, Christiane C; , ; Graff-Radford, Neill R NR; Martinez, Izri I; Ayodele, Temitope T; Logue, Mark W MW; Cantwell, Laura B LB; Jean-Francois, Melissa M; Kuzma, Amanda B AB; Adams, L D LD; Vance, Jeffery M JM; Cuccaro, Michael L ML; Chung, Jaeyoon J; Mez, Jesse J; Lunetta, Kathryn L KL; Jun, Gyungah R GR; Lopez, Oscar L OL; Hendrie, Hugh C HC; Reiman, Eric M EM; Kowall, Neil W NW; Leverenz, James B JB; Small, Scott A SA; Levey, Allan I AI; Golde, Todd E TE; Saykin, Andrew J AJ; Starks, Takiyah D TD; Albert, Marilyn S MS; Hyman, Bradley T BT; Petersen, Ronald C RC; Sano, Mary M; Wisniewski, Thomas T; Vassar, Robert R; Kaye, Jeffrey A JA; Henderson, Victor W VW; DeCarli, Charles C; LaFerla, Frank M FM; Brewer, James B JB; Miller, Bruce L BL; Swerdlow, Russell H RH; Van Eldik, Linda J LJ; Paulson, Henry L HL; Trojanowski, John Q JQ; Chui, Helena C HC; Rosenberg, Roger N RN; Craft, Suzanne S; Grabowski, Thomas J TJ; Asthana, Sanjay S; Morris, John C JC; Strittmatter, Stephen M SM; Kukull, Walter A WA
Transcriptome of iPSC-derived neuronal cells reveals a module of co-expressed genes consistently associated with autism spectrum disorder.
Molecular Psychiatry
Griesi-Oliveira, K K; Fogo, M S MS; Pinto, B G G BGG; Alves, A Y AY; Suzuki, A M AM; Morales, A G AG; Ezquina, S S; Sosa, O J OJ; Sutton, G J GJ; Sunaga-Franze, D Y DY; Bueno, A P AP; Seabra, G G; Sardinha, L L; Costa, S S SS; Rosenberg, C C; Zachi, E C EC; Sertie, A L AL; Martins-de-Souza, D D; Reis, E M EM; Voineagu, I I; Passos-Bueno, M R MR
Publication Date: 2021-05
Variant appearance in text: AKAP9: S3767L; rs149979685
Whole genome sequencing of Caribbean Hispanic families with late-onset Alzheimer's disease.
Annals Of Clinical And Translational Neurology
Vardarajan, Badri N BN; Barral, Sandra S; Jaworski, James J; Beecham, Gary W GW; Blue, Elizabeth E; Tosto, Giuseppe G; Reyes-Dumeyer, Dolly D; Medrano, Martin M; Lantigua, Rafael R; Naj, Adam A; Thornton, Timothy T; DeStefano, Anita A; Martin, Eden E; Wang, Li-San LS; Brown, Lisa L; Bush, William W; van Duijn, Cornelia C; Goate, Allison A; Farrer, Lindsay L; Haines, Jonathan L JL; Boerwinkle, Eric E; Schellenberg, Gerard G; Wijsman, Ellen E; Pericak-Vance, Margaret A MA; Mayeux, Richard R; , ; Wang, Li-San LS
Tau Phosphorylation is Impacted by Rare AKAP9 Mutations Associated with Alzheimer Disease in African Americans.
Journal Of Neuroimmune Pharmacology : The Official Journal Of The Society On Neuroimmune Pharmacology
Ikezu, Tsuneya T; Chen, Cidi C; DeLeo, Annina M AM; Zeldich, Ella E; Fallin, M Daniele MD; Kanaan, Nicholas M NM; Lunetta, Kathryn L KL; Abraham, Carmela R CR; Logue, Mark W MW; Farrer, Lindsay A LA
Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.
Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21
Variant appearance in text: AKAP9: 11300C>T; S3767L; rs149979685
Two rare AKAP9 variants are associated with Alzheimer's disease in African Americans.
Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association
Logue, Mark W MW; Schu, Matthew M; Vardarajan, Badri N BN; Farrell, John J; Bennett, David A DA; Buxbaum, Joseph D JD; Byrd, Goldie S GS; Ertekin-Taner, Nilufer N; Evans, Denis D; Foroud, Tatiana T; Goate, Alison A; Graff-Radford, Neill R NR; Kamboh, M Ilyas MI; Kukull, Walter A WA; Manly, Jennifer J JJ; , ; ,