Olaparib-Resistant BRCA2MUT Ovarian Cancer Cells with Restored BRCA2 Abrogate Olaparib-Induced DNA Damage and G2/M Arrest Controlled by the ATR/CHK1 Pathway for Survival.
Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.
Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
Embo Molecular Medicine
El-Gazzar, Ahmed A; Voraberger, Barbara B; Rauch, Frank F; Mairhofer, Mario M; Schmidt, Katy K; Guillemyn, Brecht B; Mitulović, Goran G; Reiterer, Veronika V; Haun, Margot M; Mayr, Michaela M MM; Mayr, Johannes A JA; Kimeswenger, Susanne S; Drews, Oliver O; Saraff, Vrinda V; Shaw, Nick N; Fratzl-Zelman, Nadja N; Symoens, Sofie S; Farhan, Hesso H; Högler, Wolfgang W
Publication Date: 2023-03-14
Variant appearance in text: PARP1: 2285T>C; Val762Ala
Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.
Cell Reports. Medicine
Álvarez-Prado, Ángel F ÁF; Maas, Roeltje R RR; Soukup, Klara K; Klemm, Florian F; Kornete, Mara M; Krebs, Fanny S FS; Zoete, Vincent V; Berezowska, Sabina S; Brouland, Jean-Philippe JP; Hottinger, Andreas F AF; Daniel, Roy T RT; Hegi, Monika E ME; Joyce, Johanna A JA
Publication Date: 2023-01-17
Variant appearance in text: PARP1: 2285T>C; Val762Ala
Common and rare variant associations with clonal haematopoiesis phenotypes.
Nature
Kessler, Michael D MD; Damask, Amy A; O'Keeffe, Sean S; Banerjee, Nilanjana N; Li, Dadong D; Watanabe, Kyoko K; Marketta, Anthony A; Van Meter, Michael M; Semrau, Stefan S; Horowitz, Julie J; Tang, Jing J; Kosmicki, Jack A JA; Rajagopal, Veera M VM; Zou, Yuxin Y; Houvras, Yariv Y; Ghosh, Arkopravo A; Gillies, Christopher C; Mbatchou, Joelle J; White, Ryan R RR; Verweij, Niek N; Bovijn, Jonas J; Parikshak, Neelroop N NN; LeBlanc, Michelle G MG; Jones, Marcus M; , ; , ; Glass, David J DJ; Lotta, Luca A LA; Cantor, Michael N MN; Atwal, Gurinder S GS; Locke, Adam E AE; Ferreira, Manuel A R MAR; Deering, Raquel R; Paulding, Charles C; Shuldiner, Alan R AR; Thurston, Gavin G; Ferrando, Adolfo A AA; Salerno, Will W; Reid, Jeffrey G JG; Overton, John D JD; Marchini, Jonathan J; Kang, Hyun M HM; Baras, Aris A; Abecasis, Gonçalo R GR; Jorgenson, Eric E
Publication Date: 2022-12
Variant appearance in text: PARP1: V762A; rs1136410
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: PARP1: 2285T>C; Val762Ala; rs1136410
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
Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.
Nature Genetics
Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS
Publication Date: 2022-08
Variant appearance in text: PARP1: Val762Ala; rs1136410
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: PARP1: V762A; rs1136410
Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed.
Cell Genomics
Taub, Margaret A MA; Conomos, Matthew P MP; Keener, Rebecca R; Iyer, Kruthika R KR; Weinstock, Joshua S JS; Yanek, Lisa R LR; Lane, John J; Miller-Fleming, Tyne W TW; Brody, Jennifer A JA; Raffield, Laura M LM; McHugh, Caitlin P CP; Jain, Deepti D; Gogarten, Stephanie M SM; Laurie, Cecelia A CA; Keramati, Ali A; Arvanitis, Marios M; Smith, Albert V AV; Heavner, Benjamin B; Barwick, Lucas L; Becker, Lewis C LC; Bis, Joshua C JC; Blangero, John J; Bleecker, Eugene R ER; Burchard, Esteban G EG; Celedón, Juan C JC; Chang, Yen Pei C YPC; Custer, Brian B; Darbar, Dawood D; de Las Fuentes, Lisa L; DeMeo, Dawn L DL; Freedman, Barry I BI; Garrett, Melanie E ME; Gladwin, Mark T MT; Heckbert, Susan R SR; Hidalgo, Bertha A BA; Irvin, Marguerite R MR; Islam, Talat T; Johnson, W Craig WC; Kaab, Stefan S; Launer, Lenore L; Lee, Jiwon J; Liu, Simin S; Moscati, Arden A; North, Kari E KE; Peyser, Patricia A PA; Rafaels, Nicholas N; Seidman, Christine C; Weeks, Daniel E DE; Wen, Fayun F; Wheeler, Marsha M MM; Williams, L Keoki LK; Yang, Ivana V IV; Zhao, Wei W; Aslibekyan, Stella S; Auer, Paul L PL; Bowden, Donald W DW; Cade, Brian E BE; Chen, Zhanghua Z; Cho, Michael H MH; Cupples, L Adrienne LA; Curran, Joanne E JE; Daya, Michelle M; Deka, Ranjan R; Eng, Celeste C; Fingerlin, Tasha E TE; Guo, Xiuqing X; Hou, Lifang L; Hwang, Shih-Jen SJ; Johnsen, Jill M JM; Kenny, Eimear E EE; Levin, Albert M AM; Liu, Chunyu C; Minster, Ryan L RL; Naseri, Take T; Nouraie, Mehdi M; Reupena, Muagututi'a Sefuiva MS; Sabino, Ester C EC; Smith, Jennifer A JA; Smith, Nicholas L NL; Su, Jessica Lasky JL; Taylor, James G JG; Telen, Marilyn J MJ; Tiwari, Hemant K HK; Tracy, Russell P RP; White, Marquitta J MJ; Zhang, Yingze Y; Wiggins, Kerri L KL; Weiss, Scott T ST; Vasan, Ramachandran S RS; Taylor, Kent D KD; Sinner, Moritz F MF; Silverman, Edwin K EK; Shoemaker, M Benjamin MB; Sheu, Wayne H-H WH; Sciurba, Frank F; Schwartz, David A DA; Rotter, Jerome I JI; Roden, Daniel D; Redline, Susan S; Raby, Benjamin A BA; Psaty, Bruce M BM; Peralta, Juan M JM; Palmer, Nicholette D ND; Nekhai, Sergei S; Montgomery, Courtney G CG; Mitchell, Braxton D BD; Meyers, Deborah A DA; McGarvey, Stephen T ST; , ; Mak, Angel Cy AC; Loos, Ruth Jf RJ; Kumar, Rajesh R; Kooperberg, Charles C; Konkle, Barbara A BA; Kelly, Shannon S; Kardia, Sharon Lr SL; Kaplan, Robert R; He, Jiang J; Gui, Hongsheng H; Gilliland, Frank D FD; Gelb, Bruce D BD; Fornage, Myriam M; Ellinor, Patrick T PT; de Andrade, Mariza M; Correa, Adolfo A; Chen, Yii-Der Ida YI; Boerwinkle, Eric E; Barnes, Kathleen C KC; Ashley-Koch, Allison E AE; Arnett, Donna K DK; , ; , ; , ; Laurie, Cathy C CC; Abecasis, Goncalo G; Nickerson, Deborah A DA; Wilson, James G JG; Rich, Stephen S SS; Levy, Daniel D; Ruczinski, Ingo I; Aviv, Abraham A; Blackwell, Thomas W TW; Thornton, Timothy T; O'Connell, Jeff J; Cox, Nancy J NJ; Perry, James A JA; Armanios, Mary M; Battle, Alexis A; Pankratz, Nathan N; Reiner, Alexander P AP; Mathias, Rasika A RA
Coronary Heart Disease in Type 2 Diabetes Mellitus: Genetic Factors and Their Mechanisms, Gene-Gene, and Gene-Environment Interactions in the Asian Populations.
International Journal Of Environmental Research And Public Health
Zarkasi, Khairul Anwar KA; Abdul Murad, Nor Azian NA; Ahmad, Norfazilah N; Jamal, Rahman R; Abdullah, Noraidatulakma N
Coronary Heart Disease in Type 2 Diabetes Mellitus: Genetic Factors and Their Mechanisms, Gene-Gene, and Gene-Environment Interactions in the Asian Populations.
International Journal Of Environmental Research And Public Health
Zarkasi, Khairul Anwar KA; Abdul Murad, Nor Azian NA; Ahmad, Norfazilah N; Jamal, Rahman R; Abdullah, Noraidatulakma N
An integrated multi-omic analysis of iPSC-derived motor neurons from C9ORF72 ALS patients.
Iscience
, ; Li, Jonathan J; Lim, Ryan G RG; Kaye, Julia A JA; Dardov, Victoria V; Coyne, Alyssa N AN; Wu, Jie J; Milani, Pamela P; Cheng, Andrew A; Thompson, Terri G TG; Ornelas, Loren L; Frank, Aaron A; Adam, Miriam M; Banuelos, Maria G MG; Casale, Malcolm M; Cox, Veerle V; Escalante-Chong, Renan R; Daigle, J Gavin JG; Gomez, Emilda E; Hayes, Lindsey L; Holewenski, Ronald R; Lei, Susan S; Lenail, Alex A; Lima, Leandro L; Mandefro, Berhan B; Matlock, Andrea A; Panther, Lindsay L; Patel-Murray, Natasha Leanna NL; Pham, Jacqueline J; Ramamoorthy, Divya D; Sachs, Karen K; Shelley, Brandon B; Stocksdale, Jennifer J; Trost, Hannah H; Wilhelm, Mark M; Venkatraman, Vidya V; Wassie, Brook T BT; Wyman, Stacia S; Yang, Stephanie S; , ; Van Eyk, Jennifer E JE; Lloyd, Thomas E TE; Finkbeiner, Steven S; Fraenkel, Ernest E; Rothstein, Jeffrey D JD; Sareen, Dhruv D; Svendsen, Clive N CN; Thompson, Leslie M LM
The Role of Biofactors in Diabetic Microvascular Complications.
Current Diabetes Reviews
Ziegler, Dan D; Porta, Massimo M; Papanas, Nikolaos N; Mota, Maria M; Jermendy, György G; Beltramo, Elena E; Mazzeo, Aurora A; Caccioppo, Andrea A; Striglia, Elio E; Serhiyenko, Victoria V; Serhiyenko, Alexandr A; Rosta, László L; Stirban, Ovidiu Alin OA; Putz, Zsuzsanna Z; Istenes, Ildikó I; Horváth, Viktor V; Kempler, Peter P
Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.
Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Publication Date: 2021-05-29
Variant appearance in text: PARP1: 2285T>C; Val762Ala; rs1136410
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021
Variant appearance in text: PARP1: 2285T>C; V762A; rs1136410
Dynamics of the HD regulatory subdomain of PARP-1; substrate access and allostery in PARP activation and inhibition.
Nucleic Acids Research
Ogden, Tom E H TEH; Yang, Ji-Chun JC; Schimpl, Marianne M; Easton, Laura E LE; Underwood, Elizabeth E; Rawlins, Philip B PB; McCauley, Michael M MM; Langelier, Marie-France MF; Pascal, John M JM; Embrey, Kevin J KJ; Neuhaus, David D