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
Common and rare variants in patients with early onset drusen maculopathy.
Clinical Genetics
de Breuk, Anita A; Lechanteur, Yara T E YTE; Astuti, Galuh G; Galbany, Jordi Corominas JC; Klaver, Caroline C W CCW; Hoyng, Carel B CB; den Hollander, Anneke I AI
Publication Date: 2022-11
Variant appearance in text: CFHR5: 832G>A; Gly278Ser
FHR-5 Serum Levels and CFHR5 Genetic Variations in Patients With Immune Complex-Mediated Membranoproliferative Glomerulonephritis and C3-Glomerulopathy.
Frontiers In Immunology
Garam, Nóra N; Cserhalmi, Marcell M; Prohászka, Zoltán Z; Szilágyi, Ágnes Á; Veszeli, Nóra N; Szabó, Edina E; Uzonyi, Barbara B; Iliás, Attila A; Aigner, Christof C; Schmidt, Alice A; Gaggl, Martina M; Sunder-Plassmann, Gere G; Bajcsi, Dóra D; Brunner, Jürgen J; Dumfarth, Alexandra A; Cejka, Daniel D; Flaschberger, Stefan S; Flögelova, Hana H; Haris, Ágnes Á; Hartmann, Ágnes Á; Heilos, Andreas A; Mueller, Thomas T; Rusai, Krisztina K; Arbeiter, Klaus K; Hofer, Johannes J; Jakab, Dániel D; Sinkó, Mária M; Szigeti, Erika E; Bereczki, Csaba C; Janko, Viktor V; Kelen, Kata K; Reusz, György S GS; Szabó, Attila J AJ; Klenk, Nóra N; Kóbor, Krisztina K; Kojc, Nika N; Knechtelsdorfer, Maarten M; Laganovic, Mario M; Lungu, Adrian Catalin AC; Meglic, Anamarija A; Rus, Rina R; Kersnik Levart, Tanja T; Macioniene, Ernesta E; Miglinas, Marius M; Pawłowska, Anna A; Stompór, Tomasz T; Podracka, Ludmila L; Rudnicki, Michael M; Mayer, Gert G; Rysava, Romana R; Reiterova, Jana J; Saraga, Marijan M; Seeman, Tomáš T; Zieg, Jakub J; Sládková, Eva E; Stajic, Natasa N; Szabó, Tamás T; Capitanescu, Andrei A; Stancu, Simona S; Tisljar, Miroslav M; Galesic, Kresimir K; Tislér, András A; Vainumäe, Inga I; Windpessl, Martin M; Zaoral, Tomas T; Zlatanova, Galia G; Józsi, Mihály M; Csuka, Dorottya D
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
Publication Date: 2018-02-15
Variant appearance in text: CFHR5: G278S; rs139017763
Welte, Thomas T; Arnold, Frederic F; Kappes, Julia J; Seidl, Maximilian M; Häffner, Karsten K; Bergmann, Carsten C; Walz, Gerd G; Neumann-Haefelin, Elke E
Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.
Oncotarget
Kürschner, Gerrit G; Zhang, Qingzhou Q; Clima, Rosanna R; Xiao, Yi Y; Busch, Jonas Felix JF; Kilic, Ergin E; Jung, Klaus K; Berndt, Nikolaus N; Bulik, Sascha S; Holzhütter, Hermann-Georg HG; Gasparre, Giuseppe G; Attimonelli, Marcella M; Babu, Mohan M; Meierhofer, David D
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
NCI-60 whole exome sequencing and pharmacological CellMiner analyses.
Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014
Variant appearance in text: CFHR5: G278S; rs139017763
Integrated analysis of germline and somatic variants in ovarian cancer.
Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
Publication Date: 2013-11
Variant appearance in text: CFHR5: G278S; rs139017763