Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C
Publication Date: 2022-10-21
Variant appearance in text: TOMM40: 393C>T; rs11556505
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
Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.
Npj Parkinson'S Disease
Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD
Publication Date: 2022-06-29
Variant appearance in text: TOMM40: F131F; rs11556505
Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders.
Nature Neuroscience
Yang, Chengran C; Farias, Fabiana H G FHG; Ibanez, Laura L; Suhy, Adam A; Sadler, Brooke B; Fernandez, Maria Victoria MV; Wang, Fengxian F; Bradley, Joseph L JL; Eiffert, Brett B; Bahena, Jorge A JA; Budde, John P JP; Li, Zeran Z; Dube, Umber U; Sung, Yun Ju YJ; Mihindukulasuriya, Kathie A KA; Morris, John C JC; Fagan, Anne M AM; Perrin, Richard J RJ; Benitez, Bruno A BA; Rhinn, Herve H; Harari, Oscar O; Cruchaga, Carlos C
Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders.
Nature Neuroscience
Yang, Chengran C; Farias, Fabiana H G FHG; Ibanez, Laura L; Suhy, Adam A; Sadler, Brooke B; Fernandez, Maria Victoria MV; Wang, Fengxian F; Bradley, Joseph L JL; Eiffert, Brett B; Bahena, Jorge A JA; Budde, John P JP; Li, Zeran Z; Dube, Umber U; Sung, Yun Ju YJ; Mihindukulasuriya, Kathie A KA; Morris, John C JC; Fagan, Anne M AM; Perrin, Richard J RJ; Benitez, Bruno A BA; Rhinn, Herve H; Harari, Oscar O; Cruchaga, Carlos C
Genome-wide analysis identifies a novel LINC-PINT splice variant associated with vascular amyloid pathology in Alzheimer's disease.
Acta Neuropathologica Communications
Reddy, Joseph S JS; Allen, Mariet M; Ho, Charlotte C G CCG; Oatman, Stephanie R SR; İş, Özkan Ö; Quicksall, Zachary S ZS; Wang, Xue X; Jin, Jiangli J; Patel, Tulsi A TA; Carnwath, Troy P TP; Nguyen, Thuy T TT; Malphrus, Kimberly G KG; Lincoln, Sarah J SJ; Carrasquillo, Minerva M MM; Crook, Julia E JE; Kanekiyo, Takahisa T; Murray, Melissa E ME; Bu, Guojun G; Dickson, Dennis W DW; Ertekin-Taner, Nilüfer N
Impact of variant-level batch effects on identification of genetic risk factors in large sequencing studies.
Plos One
Wickland, Daniel P DP; Ren, Yingxue Y; Sinnwell, Jason P JP; Reddy, Joseph S JS; Pottier, Cyril C; Sarangi, Vivekananda V; Carrasquillo, Minerva M MM; Ross, Owen A OA; Younkin, Steven G SG; Ertekin-Taner, Nilüfer N; Rademakers, Rosa R; Hudson, Matthew E ME; Mainzer, Liudmila Sergeevna LS; Biernacka, Joanna M JM; Asmann, Yan W YW
Integrated genetic analyses revealed novel human longevity loci and reduced risks of multiple diseases in a cohort study of 15,651 Chinese individuals.
Aging Cell
Liu, Xiaomin X; Song, Zijun Z; Li, Yan Y; Yao, Yao Y; Fang, Mingyan M; Bai, Chen C; An, Peng P; Chen, Huashuai H; Chen, Zhihua Z; Tang, Biyao B; Shen, Juan J; Gao, Xiaotong X; Zhang, Mingrong M; Chen, Pengyu P; Zhang, Tao T; Jia, Huijue H; Liu, Xiao X; Hou, Yong Y; Yang, Huanming H; Wang, Jian J; Wang, Fudi F; Xu, Xun X; Min, Junxia J; Nie, Chao C; Zeng, Yi Y
EBF1 drives hallmark B cell gene expression by enabling the interaction of PAX5 with the MLL H3K4 methyltransferase complex.
Scientific Reports
Bullerwell, Charles E CE; Robichaud, Philippe Pierre PP; Deprez, Pierre M L PML; Joy, Andrew P AP; Wajnberg, Gabriel G; D'Souza, Darwin D; Chacko, Simi S; Fournier, Sébastien S; Crapoulet, Nicolas N; Barnett, David A DA; Lewis, Stephen M SM; Ouellette, Rodney J RJ
Publication Date: 2021-01-15
Variant appearance in text: TOMM40: F131F; rs11556505
Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.
Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08
Variant appearance in text: TOMM40: 393C>T; rs11556505
An integrated personal and population-based Egyptian genome reference.
Nature Communications
Wohlers, Inken I; Künstner, Axel A; Munz, Matthias M; Olbrich, Michael M; Fähnrich, Anke A; Calonga-Solís, Verónica V; Ma, Caixia C; Hirose, Misa M; El-Mosallamy, Shaaban S; Salama, Mohamed M; Busch, Hauke H; Ibrahim, Saleh S
Genetic and polygenic risk score analysis for Alzheimer's disease in the Chinese population.
Alzheimer'S & Dementia (Amsterdam, Netherlands)
Zhou, Xiaopu X; Chen, Yu Y; Ip, Fanny C F FCF; Lai, Nicole C H NCH; Li, Yolanda Y T YYT; Jiang, Yuanbing Y; Zhong, Huan H; Chen, Yuewen Y; Zhang, Yulin Y; Ma, Shuangshuang S; Lo, Ronnie M N RMN; Cheung, Kit K; Tong, Estella P S EPS; Ko, Ho H; Shoai, Maryam M; Mok, Kin Y KY; Hardy, John J; Mok, Vincent C T VCT; Kwok, Timothy C Y TCY; Fu, Amy K Y AKY; Ip, Nancy Y NY
Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities.
Nature Communications
Nichols, Caitlin A CA; Gibson, William J WJ; Brown, Meredith S MS; Kosmicki, Jack A JA; Busanovich, John P JP; Wei, Hope H; Urbanski, Laura M LM; Curimjee, Naomi N; Berger, Ashton C AC; Gao, Galen F GF; Cherniack, Andrew D AD; Dhe-Paganon, Sirano S; Paolella, Brenton R BR; Beroukhim, Rameen R
Publication Date: 2020-05-20
Variant appearance in text: TOMM40: 393C>T; rs11556505
Genetic analysis of hsCRP in American Indians: The Strong Heart Family Study.
Plos One
Best, Lyle G LG; Balakrishnan, Poojitha P; Cole, Shelley A SA; Haack, Karin K; Kocarnik, Jonathan M JM; Pankratz, Nathan N; Anderson, Matthew Z MZ; Franceschini, Nora N; Howard, Barbara V BV; Lee, Elisa T ET; North, Kari E KE; Umans, Jason G JG; Yracheta, Joseph M JM; Navas-Acien, Ana A; Voruganti, V Saroja VS
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09
Variant appearance in text: TOMM40: F131F; rs11556505
Non-coding variability at the APOE locus contributes to the Alzheimer's risk.
Nature Communications
Zhou, Xiaopu X; Chen, Yu Y; Mok, Kin Y KY; Kwok, Timothy C Y TCY; Mok, Vincent C T VCT; Guo, Qihao Q; Ip, Fanny C FC; Chen, Yuewen Y; Mullapudi, Nandita N; , ; Giusti-Rodríguez, Paola P; Sullivan, Patrick F PF; Hardy, John J; Fu, Amy K Y AKY; Li, Yun Y; Ip, Nancy Y NY
Genetic variants and cognitive functions in patients with brain tumors.
Neuro-Oncology
Correa, Denise D DD; Satagopan, Jaya J; Martin, Axel A; Braun, Erica E; Kryza-Lacombe, Maria M; Cheung, Kenneth K; Sharma, Ajay A; Dimitriadoy, Sofia S; O'Connell, Kelli K; Leong, Siok S; Karimi, Sasan S; Lyo, John J; DeAngelis, Lisa M LM; Orlow, Irene I
Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk.
Nature Genetics
Jansen, Iris E IE; Savage, Jeanne E JE; Watanabe, Kyoko K; Bryois, Julien J; Williams, Dylan M DM; Steinberg, Stacy S; Sealock, Julia J; Karlsson, Ida K IK; Hägg, Sara S; Athanasiu, Lavinia L; Voyle, Nicola N; Proitsi, Petroula P; Witoelar, Aree A; Stringer, Sven S; Aarsland, Dag D; Almdahl, Ina S IS; Andersen, Fred F; Bergh, Sverre S; Bettella, Francesco F; Bjornsson, Sigurbjorn S; Brækhus, Anne A; Bråthen, Geir G; de Leeuw, Christiaan C; Desikan, Rahul S RS; Djurovic, Srdjan S; Dumitrescu, Logan L; Fladby, Tormod T; Hohman, Timothy J TJ; Jonsson, Palmi V PV; Kiddle, Steven J SJ; Rongve, Arvid A; Saltvedt, Ingvild I; Sando, Sigrid B SB; Selbæk, Geir G; Shoai, Maryam M; Skene, Nathan G NG; Snaedal, Jon J; Stordal, Eystein E; Ulstein, Ingun D ID; Wang, Yunpeng Y; White, Linda R LR; Hardy, John J; Hjerling-Leffler, Jens J; Sullivan, Patrick F PF; van der Flier, Wiesje M WM; Dobson, Richard R; Davis, Lea K LK; Stefansson, Hreinn H; Stefansson, Kari K; Pedersen, Nancy L NL; Ripke, Stephan S; Andreassen, Ole A OA; Posthuma, Danielle D
Biothiols and oxidative stress markers and polymorphisms of TOMM40 and APOC1 genes in Alzheimer's disease patients.
Oncotarget
Prendecki, Michal M; Florczak-Wyspianska, Jolanta J; Kowalska, Marta M; Ilkowski, Jan J; Grzelak, Teresa T; Bialas, Katarzyna K; Wiszniewska, Malgorzata M; Kozubski, Wojciech W; Dorszewska, Jolanta J
Genome-wide association study of brain amyloid deposition as measured by Pittsburgh Compound-B (PiB)-PET imaging.
Molecular Psychiatry
Yan, Qi Q; Nho, Kwangsik K; Del-Aguila, Jorge L JL; Wang, Xingbin X; Risacher, Shannon L SL; Fan, Kang-Hsien KH; Snitz, Beth E BE; Aizenstein, Howard J HJ; Mathis, Chester A CA; Lopez, Oscar L OL; Demirci, F Yesim FY; Feingold, Eleanor E; Klunk, William E WE; Saykin, Andrew J AJ; , ; Cruchaga, Carlos C; Kamboh, M Ilyas MI
Genetic variants specific to aging-related verbal memory: Insights from GWASs in a population-based cohort.
Plos One
Arpawong, Thalida E TE; Pendleton, Neil N; Mekli, Krisztina K; McArdle, John J JJ; Gatz, Margaret M; Armoskus, Chris C; Knowles, James A JA; Prescott, Carol A CA
Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases.
Journal Of Neurology, Neurosurgery, And Psychiatry
Ferrari, Raffaele R; Wang, Yunpeng Y; Vandrovcova, Jana J; Guelfi, Sebastian S; Witeolar, Aree A; Karch, Celeste M CM; Schork, Andrew J AJ; Fan, Chun C CC; Brewer, James B JB; , ; , ; , ; Momeni, Parastoo P; Schellenberg, Gerard D GD; Dillon, William P WP; Sugrue, Leo P LP; Hess, Christopher P CP; Yokoyama, Jennifer S JS; Bonham, Luke W LW; Rabinovici, Gil D GD; Miller, Bruce L BL; Andreassen, Ole A OA; Dale, Anders M AM; Hardy, John J; Desikan, Rahul S RS
Candidate gene resequencing to identify rare, pedigree-specific variants influencing healthy aging phenotypes in the long life family study.
Bmc Geriatrics
Druley, Todd E TE; Wang, Lihua L; Lin, Shiow J SJ; Lee, Joseph H JH; Zhang, Qunyuan Q; Daw, E Warwick EW; Abel, Haley J HJ; Chasnoff, Sara E SE; Ramos, Enrique I EI; Levinson, Benjamin T BT; Thyagarajan, Bharat B; Newman, Anne B AB; Christensen, Kaare K; Mayeux, Richard R; Province, Michael A MA
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014
Variant appearance in text: TOMM40: F131F; rs11556505
Association of exome sequences with plasma C-reactive protein levels in >9000 participants.
Human Molecular Genetics
Schick, Ursula M UM; Auer, Paul L PL; Bis, Joshua C JC; Lin, Honghuang H; Wei, Peng P; Pankratz, Nathan N; Lange, Leslie A LA; Brody, Jennifer J; Stitziel, Nathan O NO; Kim, Daniel S DS; Carlson, Christopher S CS; Fornage, Myriam M; Haessler, Jeffery J; Hsu, Li L; Jackson, Rebecca D RD; Kooperberg, Charles C; Leal, Suzanne M SM; Psaty, Bruce M BM; Boerwinkle, Eric E; Tracy, Russell R; Ardissino, Diego D; Shah, Svati S; Willer, Cristen C; Loos, Ruth R; Melander, Olle O; Mcpherson, Ruth R; Hovingh, Kees K; Reilly, Muredach M; Watkins, Hugh H; Girelli, Domenico D; Fontanillas, Pierre P; Chasman, Daniel I DI; Gabriel, Stacey B SB; Gibbs, Richard R; Nickerson, Deborah A DA; Kathiresan, Sekar S; Peters, Ulrike U; Dupuis, Josée J; Wilson, James G JG; Rich, Stephen S SS; Morrison, Alanna C AC; Benjamin, Emelia J EJ; Gross, Myron D MD; Reiner, Alex P AP; , ; ,
Publication Date: 2015-01-15
Variant appearance in text: TOMM40: Phe131=; rs11556505
TOMM40 in Cerebral Amyloid Angiopathy Related Intracerebral Hemorrhage: Comparative Genetic Analysis with Alzheimer's Disease.
Translational Stroke Research
Valant, Valerie V; Keenan, Brendan T BT; Anderson, Christopher D CD; Shulman, Joshua M JM; Devan, William J WJ; Ayres, Alison M AM; Schwab, Kristin K; Goldstein, Joshua N JN; Viswanathan, Anand A; Greenberg, Steven M SM; Bennett, David A DA; De Jager, Philip L PL; Rosand, Jonathan J; Biffi, Alessandro A; ,
GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease.
Neuron
Cruchaga, Carlos C; Kauwe, John S K JS; Harari, Oscar O; Jin, Sheng Chih SC; Cai, Yefei Y; Karch, Celeste M CM; Benitez, Bruno A BA; Jeng, Amanda T AT; Skorupa, Tara T; Carrell, David D; Bertelsen, Sarah S; Bailey, Matthew M; McKean, David D; Shulman, Joshua M JM; De Jager, Philip L PL; Chibnik, Lori L; Bennett, David A DA; Arnold, Steve E SE; Harold, Denise D; Sims, Rebecca R; Gerrish, Amy A; Williams, Julie J; Van Deerlin, Vivianna M VM; Lee, Virginia M-Y VM; Shaw, Leslie M LM; Trojanowski, John Q JQ; Haines, Jonathan L JL; Mayeux, Richard R; Pericak-Vance, Margaret A MA; Farrer, Lindsay A LA; Schellenberg, Gerard D GD; Peskind, Elaine R ER; Galasko, Douglas D; Fagan, Anne M AM; Holtzman, David M DM; Morris, John C JC; , ; , ; , ; Goate, Alison M AM
A genome-wide association study implicates the APOE locus in nonpathological cognitive ageing.
Molecular Psychiatry
Davies, G G; Harris, S E SE; Reynolds, C A CA; Payton, A A; Knight, H M HM; Liewald, D C DC; Lopez, L M LM; Luciano, M M; Gow, A J AJ; Corley, J J; Henderson, R R; Murray, C C; Pattie, A A; Fox, H C HC; Redmond, P P; Lutz, M W MW; Chiba-Falek, O O; Linnertz, C C; Saith, S S; Haggarty, P P; McNeill, G G; Ke, X X; Ollier, W W; Horan, M M; Roses, A D AD; Ponting, C P CP; Porteous, D J DJ; Tenesa, A A; Pickles, A A; Starr, J M JM; Whalley, L J LJ; Pedersen, N L NL; Pendleton, N N; Visscher, P M PM; Deary, I J IJ
Cerebrospinal fluid APOE levels: an endophenotype for genetic studies for Alzheimer's disease.
Human Molecular Genetics
Cruchaga, Carlos C; Kauwe, John S K JS; Nowotny, Petra P; Bales, Kelly K; Pickering, Eve H EH; Mayo, Kevin K; Bertelsen, Sarah S; Hinrichs, Anthony A; , ; Fagan, Anne M AM; Holtzman, David M DM; Morris, John C JC; Goate, Alison M AM
Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease.
Plos One
Potkin, Steven G SG; Guffanti, Guia G; Lakatos, Anita A; Turner, Jessica A JA; Kruggel, Frithjof F; Fallon, James H JH; Saykin, Andrew J AJ; Orro, Alessandro A; Lupoli, Sara S; Salvi, Erika E; Weiner, Michael M; Macciardi, Fabio F; ,
APOE mRNA and protein expression in postmortem brain are modulated by an extended haplotype structure.
American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics
Bekris, Lynn M LM; Galloway, Nichole M NM; Montine, Thomas J TJ; Schellenberg, Gerard D GD; Yu, Chang-En CE
Multiple SNPs within and surrounding the apolipoprotein E gene influence cerebrospinal fluid apolipoprotein E protein levels.
Journal Of Alzheimer'S Disease : Jad
Bekris, Lynn M LM; Millard, Steven P SP; Galloway, Nichole M NM; Vuletic, Simona S; Albers, John J JJ; Li, Ge G; Galasko, Douglas R DR; DeCarli, Charles C; Farlow, Martin R MR; Clark, Chris M CM; Quinn, Joseph F JF; Kaye, Jeffrey A JA; Schellenberg, Gerard D GD; Tsuang, Debby D; Peskind, Elaine R ER; Yu, Chang-En CE
Comprehensive analysis of APOE and selected proximate markers for late-onset Alzheimer's disease: patterns of linkage disequilibrium and disease/marker association.
Genomics
Yu, Chang-En CE; Seltman, Howard H; Peskind, Elaine R ER; Galloway, Nichole N; Zhou, Peter X PX; Rosenthal, Elisabeth E; Wijsman, Ellen M EM; Tsuang, Debby W DW; Devlin, Bernie B; Schellenberg, Gerard D GD