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: HMMR: 1454C>T; Ala485Val
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
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
A Model of Minor Histocompatibility Antigens in Allogeneic Hematopoietic Cell Transplantation.
Frontiers In Immunology
Martin, Paul J PJ; Levine, David M DM; Storer, Barry E BE; Zheng, Xiuwen X; Jain, Deepti D; Heavner, Ben B; Norris, Brandon M BM; Geraghty, Daniel E DE; Spellman, Stephen R SR; Sather, Cassie L CL; Wu, Feinan F; Hansen, John A JA
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: HMMR: 1454C>T; A485V; rs299295
Advanced bioinformatic analysis and pathway prediction of NSCLC cells upon cisplatin resistance.
Scientific Reports
Hossian, A K M Nawshad AKMN; Zahra, Fatema Tuz FT; Poudel, Sagun S; Abshire, Camille F CF; Polk, Paula P; Garai, Jone J; Zabaleta, Jovanny J; Mikelis, Constantinos M CM; Mattheolabakis, George G
Publication Date: 2021-03-22
Variant appearance in text: HMMR: 1454C>T; Ala485Val
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: HMMR: 1454C>T; Ala485Val
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
DNA methylation loss promotes immune evasion of tumours with high mutation and copy number load.
Nature Communications
Jung, Hyunchul H; Kim, Hong Sook HS; Kim, Jeong Yeon JY; Sun, Jong-Mu JM; Ahn, Jin Seok JS; Ahn, Myung-Ju MJ; Park, Keunchil K; Esteller, Manel M; Lee, Se-Hoon SH; Choi, Jung Kyoon JK
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
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
Campbell, Katie M KM; Lin, Tianxiang T; Zolkind, Paul P; Barnell, Erica K EK; Skidmore, Zachary L ZL; Winkler, Ashley E AE; Law, Jonathan H JH; Mardis, Elaine R ER; Wartman, Lukas D LD; Adkins, Douglas R DR; Chernock, Rebecca D RD; Griffith, Malachi M; Uppaluri, Ravindra R; Griffith, Obi L OL
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
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
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
Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer.
Plos Biology
Maxwell, Christopher A CA; Benítez, Javier J; Gómez-Baldó, Laia L; Osorio, Ana A; Bonifaci, Núria N; Fernández-Ramires, Ricardo R; Costes, Sylvain V SV; Guinó, Elisabet E; Chen, Helen H; Evans, Gareth J R GJ; Mohan, Pooja P; Català, Isabel I; Petit, Anna A; Aguilar, Helena H; Villanueva, Alberto A; Aytes, Alvaro A; Serra-Musach, Jordi J; Rennert, Gad G; Lejbkowicz, Flavio F; Peterlongo, Paolo P; Manoukian, Siranoush S; Peissel, Bernard B; Ripamonti, Carla B CB; Bonanni, Bernardo B; Viel, Alessandra A; Allavena, Anna A; Bernard, Loris L; Radice, Paolo P; Friedman, Eitan E; Kaufman, Bella B; Laitman, Yael Y; Dubrovsky, Maya M; Milgrom, Roni R; Jakubowska, Anna A; Cybulski, Cezary C; Gorski, Bohdan B; Jaworska, Katarzyna K; Durda, Katarzyna K; Sukiennicki, Grzegorz G; Lubiński, Jan J; Shugart, Yin Yao YY; Domchek, Susan M SM; Letrero, Richard R; Weber, Barbara L BL; Hogervorst, Frans B L FB; Rookus, Matti A MA; Collee, J Margriet JM; Devilee, Peter P; Ligtenberg, Marjolijn J MJ; Luijt, Rob B van der RB; Aalfs, Cora M CM; Waisfisz, Quinten Q; Wijnen, Juul J; Roozendaal, Cornelis E P van CE; , ; , ; Easton, Douglas F DF; Peock, Susan S; Cook, Margaret M; Oliver, Clare C; Frost, Debra D; Harrington, Patricia P; Evans, D Gareth DG; Lalloo, Fiona F; Eeles, Rosalind R; Izatt, Louise L; Chu, Carol C; Eccles, Diana D; Douglas, Fiona F; Brewer, Carole C; Nevanlinna, Heli H; Heikkinen, Tuomas T; Couch, Fergus J FJ; Lindor, Noralane M NM; Wang, Xianshu X; Godwin, Andrew K AK; Caligo, Maria A MA; Lombardi, Grazia G; Loman, Niklas N; Karlsson, Per P; Ehrencrona, Hans H; Wachenfeldt, Anna von Av; , ; Barkardottir, Rosa Bjork RB; Hamann, Ute U; Rashid, Muhammad U MU; Lasa, Adriana A; Caldés, Trinidad T; Andrés, Raquel R; Schmitt, Michael M; Assmann, Volker V; Stevens, Kristen K; Offit, Kenneth K; Curado, João J; Tilgner, Hagen H; Guigó, Roderic R; Aiza, Gemma G; Brunet, Joan J; Castellsagué, Joan J; Martrat, Griselda G; Urruticoechea, Ander A; Blanco, Ignacio I; Tihomirova, Laima L; Goldgar, David E DE; Buys, Saundra S; John, Esther M EM; Miron, Alexander A; Southey, Melissa M; Daly, Mary B MB; , ; Schmutzler, Rita K RK; Wappenschmidt, Barbara B; Meindl, Alfons A; Arnold, Norbert N; Deissler, Helmut H; Varon-Mateeva, Raymonda R; Sutter, Christian C; Niederacher, Dieter D; Imyamitov, Evgeny E; Sinilnikova, Olga M OM; Stoppa-Lyonne, Dominique D; Mazoyer, Sylvie S; Verny-Pierre, Carole C; Castera, Laurent L; de Pauw, Antoine A; Bignon, Yves-Jean YJ; Uhrhammer, Nancy N; Peyrat, Jean-Philippe JP; Vennin, Philippe P; Fert Ferrer, Sandra S; Collonge-Rame, Marie-Agnès MA; Mortemousque, Isabelle I; , ; Spurdle, Amanda B AB; Beesley, Jonathan J; Chen, Xiaoqing X; Healey, Sue S; , ; Barcellos-Hoff, Mary Helen MH; Vidal, Marc M; Gruber, Stephen B SB; Lázaro, Conxi C; Capellá, Gabriel G; McGuffog, Lesley L; Nathanson, Katherine L KL; Antoniou, Antonis C AC; Chenevix-Trench, Georgia G; Fleisch, Markus C MC; Moreno, Víctor V; Pujana, Miguel Angel MA
Genetic associations with thalidomide mediated venous thrombotic events in myeloma identified using targeted genotyping.
Blood
Johnson, David C DC; Corthals, Sophie S; Ramos, Christine C; Hoering, Antje A; Cocks, Kim K; Dickens, Nicholas J NJ; Haessler, Jeff J; Goldschmidt, Harmut H; Child, J Anthony JA; Bell, Sue E SE; Jackson, Graham G; Baris, Dalsu D; Rajkumar, S Vincent SV; Davies, Faith E FE; Durie, Brian G M BG; Crowley, John J; Sonneveld, Pieter P; Van Ness, Brian B; Morgan, Gareth J GJ