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 common genetic variation in GZMB may associate with cancer risk in patients with Lynch syndrome.
Frontiers In Oncology
Grolmusz, Vince Kornél VK; Nagy, Petra P; Likó, István I; Butz, Henriett H; Pócza, Tímea T; Bozsik, Anikó A; Papp, János J; Oláh, Edit E; Patócs, Attila A
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
A comprehensive meta-analysis and prioritization study to identify vitiligo associated coding and non-coding SNV candidates using web-based bioinformatics tools.
Germline Variation in PDCD1 Is Associated with Overall Survival in Patients with Metastatic Melanoma Treated with Anti-PD-1 Monotherapy.
Cancers
de With, Mirjam M; Hurkmans, Daan P DP; Oomen-de Hoop, Esther E; Lalouti, Ayoub A; Bins, Sander S; El Bouazzaoui, Samira S; van Brakel, Mandy M; Debets, Reno R; Aerts, Joachim G J V JGJV; van Schaik, Ron H N RHN; Mathijssen, Ron H J RHJ; van der Veldt, Astrid A M AAM
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: GZMB: 164G>A; R55Q; rs8192917
Influence of single nucleotide polymorphisms among cigarette smoking and non-smoking patients with coronary artery disease, urinary bladder cancer and lung cancer.
Plos One
Laytragoon Lewin, Nongnit N; Karlsson, Jan-Erik JE; Robinsson, David D; Fagerberg, Matida M; Kentsson, Magnus M; Sayardoust, Shariel S; Nilsson, Mats M; Shamoun, Levar L; Andersson, Bengt-Åke BÅ; Löfgren, Sture S; Rutqvist, Lars Erik LE; Lewin, Freddi F
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: GZMB: 164G>A; R55Q; rs8192917
Granzyme B is correlated with clinical outcome after PD-1 blockade in patients with stage IV non-small-cell lung cancer.
Journal For Immunotherapy Of Cancer
Hurkmans, Daan P DP; Basak, Edwin A EA; Schepers, Nina N; Oomen-De Hoop, Esther E; Van der Leest, Cor H CH; El Bouazzaoui, Samira S; Bins, Sander S; Koolen, Stijn L W SLW; Sleijfer, Stefan S; Van der Veldt, Astrid A M AAM; Debets, Reno R; Van Schaik, Ron H N RHN; Aerts, Joachim G J V JGJV; Mathijssen, Ron H J RHJ
Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.
Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
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
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
Early-onset autoimmune vitiligo associated with an enhancer variant haplotype that upregulates class II HLA expression.
Nature Communications
Jin, Ying Y; Roberts, Genevieve H L GHL; Ferrara, Tracey M TM; Ben, Songtao S; van Geel, Nanja N; Wolkerstorfer, Albert A; Ezzedine, Khaled K; Siebert, Janet J; Neff, Charles P CP; Palmer, Brent E BE; Santorico, Stephanie A SA; Spritz, Richard A RA
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
Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia.
Genome Research
Bhattacharya, Sanchita S; Li, Jian J; Sockell, Alexandra A; Kan, Matthew J MJ; Bava, Felice A FA; Chen, Shann-Ching SC; Ávila-Arcos, María C MC; Ji, Xuhuai X; Smith, Emery E; Asadi, Narges B NB; Lachman, Ralph S RS; Lam, Hugo Y K HYK; Bustamante, Carlos D CD; Butte, Atul J AJ; Nolan, Garry P GP
The phosphatidylinositide 3-kinase (PI3K) signaling pathway is a determinant of zileuton response in adults with asthma.
The Pharmacogenomics Journal
Dahlin, Amber A; Qiu, Weiliang W; Litonjua, Augusto A AA; Lima, John J JJ; Tamari, Mayumi M; Kubo, Michiaki M; Irvin, Charles G CG; Peters, Stephen P SP; Wu, Ann C AC; Weiss, Scott T ST; Tantisira, Kelan G KG
Replication of associations between genetic polymorphisms and chronic graft-versus-host disease.
Blood
Martin, Paul J PJ; Fan, Wenhong W; Storer, Barry E BE; Levine, David M DM; Zhao, Lue Ping LP; Warren, Edus H EH; Flowers, Mary E D ME; Lee, Stephanie J SJ; Carpenter, Paul A PA; Boeckh, Michael M; Hingorani, Sangeeta S; Yan, Li L; Hu, Qiang Q; Preus, Leah L; Liu, Song S; Spellman, Stephen S; Zhu, Xiaochun X; Pasquini, Marcelo M; McCarthy, Philip P; Stram, Daniel D; Sheng, Xin X; Pooler, Loreall L; Haiman, Christopher A CA; Sucheston-Campbell, Lara L; Hahn, Theresa T; Hansen, John A JA