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
A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER
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: BRWD1: 247C>G; Gln83Glu
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: BRWD1: 247C>G; Gln83Glu; rs2056844
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
Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways.
Nature Communications
Young, William J WJ; Lahrouchi, Najim N; Isaacs, Aaron A; Duong, ThuyVy T; Foco, Luisa L; Ahmed, Farah F; Brody, Jennifer A JA; Salman, Reem R; Noordam, Raymond R; Benjamins, Jan-Walter JW; Haessler, Jeffrey J; Lyytikäinen, Leo-Pekka LP; Repetto, Linda L; Concas, Maria Pina MP; van den Berg, Marten E ME; Weiss, Stefan S; Baldassari, Antoine R AR; Bartz, Traci M TM; Cook, James P JP; Evans, Daniel S DS; Freudling, Rebecca R; Hines, Oliver O; Isaksen, Jonas L JL; Lin, Honghuang H; Mei, Hao H; Moscati, Arden A; Müller-Nurasyid, Martina M; Nursyifa, Casia C; Qian, Yong Y; Richmond, Anne A; Roselli, Carolina C; Ryan, Kathleen A KA; Tarazona-Santos, Eduardo E; Thériault, Sébastien S; van Duijvenboden, Stefan S; Warren, Helen R HR; Yao, Jie J; Raza, Dania D; Aeschbacher, Stefanie S; Ahlberg, Gustav G; Alonso, Alvaro A; Andreasen, Laura L; Bis, Joshua C JC; Boerwinkle, Eric E; Campbell, Archie A; Catamo, Eulalia E; Cocca, Massimiliano M; Cutler, Michael J MJ; Darbar, Dawood D; De Grandi, Alessandro A; De Luca, Antonio A; Ding, Jun J; Ellervik, Christina C; Ellinor, Patrick T PT; Felix, Stephan B SB; Froguel, Philippe P; Fuchsberger, Christian C; Gögele, Martin M; Graff, Claus C; Graff, Mariaelisa M; Guo, Xiuqing X; Hansen, Torben T; Heckbert, Susan R SR; Huang, Paul L PL; Huikuri, Heikki V HV; Hutri-Kähönen, Nina N; Ikram, M Arfan MA; Jackson, Rebecca D RD; Junttila, Juhani J; Kavousi, Maryam M; Kors, Jan A JA; Leal, Thiago P TP; Lemaitre, Rozenn N RN; Lin, Henry J HJ; Lind, Lars L; Linneberg, Allan A; Liu, Simin S; MacFarlane, Peter W PW; Mangino, Massimo M; Meitinger, Thomas T; Mezzavilla, Massimo M; Mishra, Pashupati P PP; Mitchell, Rebecca N RN; Mononen, Nina N; Montasser, May E ME; Morrison, Alanna C AC; Nauck, Matthias M; Nauffal, Victor V; Navarro, Pau P; Nikus, Kjell K; Pare, Guillaume G; Patton, Kristen K KK; Pelliccione, Giulia G; Pittman, Alan A; Porteous, David J DJ; Pramstaller, Peter P PP; Preuss, Michael H MH; Raitakari, Olli T OT; Reiner, Alexander P AP; Ribeiro, Antonio Luiz P ALP; Rice, Kenneth M KM; Risch, Lorenz L; Schlessinger, David D; Schotten, Ulrich U; Schurmann, Claudia C; Shen, Xia X; Shoemaker, M Benjamin MB; Sinagra, Gianfranco G; Sinner, Moritz F MF; Soliman, Elsayed Z EZ; Stoll, Monika M; Strauch, Konstantin K; Tarasov, Kirill K; Taylor, Kent D KD; Tinker, Andrew A; Trompet, Stella S; Uitterlinden, André A; Völker, Uwe U; Völzke, Henry H; Waldenberger, Melanie M; Weng, Lu-Chen LC; Whitsel, Eric A EA; Wilson, James G JG; Avery, Christy L CL; Conen, David D; Correa, Adolfo A; Cucca, Francesco F; Dörr, Marcus M; Gharib, Sina A SA; Girotto, Giorgia G; Grarup, Niels N; Hayward, Caroline C; Jamshidi, Yalda Y; Järvelin, Marjo-Riitta MR; Jukema, J Wouter JW; Kääb, Stefan S; Kähönen, Mika M; Kanters, Jørgen K JK; Kooperberg, Charles C; Lehtimäki, Terho T; Lima-Costa, Maria Fernanda MF; Liu, Yongmei Y; Loos, Ruth J F RJF; Lubitz, Steven A SA; Mook-Kanamori, Dennis O DO; Morris, Andrew P AP; O'Connell, Jeffrey R JR; Olesen, Morten Salling MS; Orini, Michele M; Padmanabhan, Sandosh S; Pattaro, Cristian C; Peters, Annette A; Psaty, Bruce M BM; Rotter, Jerome I JI; Stricker, Bruno B; van der Harst, Pim P; van Duijn, Cornelia M CM; Verweij, Niek N; Wilson, James F JF; Arking, Dan E DE; Ramirez, Julia J; Lambiase, Pier D PD; Sotoodehnia, Nona N; Mifsud, Borbala B; Newton-Cheh, Christopher C; Munroe, Patricia B PB
Publication Date: 2022-09-01
Variant appearance in text: BRWD1: 247C>G; Gln83Glu; rs2056844
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: BRWD1: Q83E; rs2056844
Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A
Publication Date: 2022-08-15
Variant appearance in text: BRWD1: Q83E; rs2056844
A stop-gain mutation in GXYLT1 promotes metastasis of colorectal cancer via the MAPK pathway.
Cell Death & Disease
Peng, Lin L; Zhao, Min M; Liu, Tianqi T; Chen, Jiangbo J; Gao, Pin P; Chen, Lei L; Xing, Pu P; Wang, Zaozao Z; Di, Jiabo J; Xu, Qiang Q; Qu, Hong H; Jiang, Beihai B; Su, Xiangqian X
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: BRWD1: 247C>G; Gln83Glu; rs2056844
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: BRWD1: 247C>G; Q83E; rs2056844
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: BRWD1: Q83E; rs2056844
The role of myoglobin in epithelial cancers: Insights from transcriptomics.
International Journal Of Molecular Medicine
Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T
Publication Date: 2020-02
Variant appearance in text: BRWD1: 247C>G; Gln83Glu
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: BRWD1: Q83E; rs2056844
A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.
Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20
Variant appearance in text: BRWD1: Q83E; rs2056844
Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.
Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
Scientific Reports
Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN
Publication Date: 2018-11-02
Variant appearance in text: BRWD1: Q83E; rs2056844
Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.
The Journal Of Pathology
Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R
Publication Date: 2016-11
Variant appearance in text: BRWD1: Q83E; rs2056844
Proteogenomics connects somatic mutations to signalling in breast cancer.
Nature
Mertins, Philipp P; Mani, D R DR; Ruggles, Kelly V KV; Gillette, Michael A MA; Clauser, Karl R KR; Wang, Pei P; Wang, Xianlong X; Qiao, Jana W JW; Cao, Song S; Petralia, Francesca F; Kawaler, Emily E; Mundt, Filip F; Krug, Karsten K; Tu, Zhidong Z; Lei, Jonathan T JT; Gatza, Michael L ML; Wilkerson, Matthew M; Perou, Charles M CM; Yellapantula, Venkata V; Huang, Kuan-lin KL; Lin, Chenwei C; McLellan, Michael D MD; Yan, Ping P; Davies, Sherri R SR; Townsend, R Reid RR; Skates, Steven J SJ; Wang, Jing J; Zhang, Bing B; Kinsinger, Christopher R CR; Mesri, Mehdi M; Rodriguez, Henry H; Ding, Li L; Paulovich, Amanda G AG; Fenyö, David D; Ellis, Matthew J MJ; Carr, Steven A SA; ,
Publication Date: 2016-06-02
Variant appearance in text: BRWD1: Q83E; rs2056844
Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.
Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08
Variant appearance in text: BRWD1: Q83E; rs2056844
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: BRWD1: Q83E; rs2056844