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
Decoding type 2 diabetes mellitus genetic risk variants in Pakistani Pashtun ethnic population using the nascent whole exome sequencing and MassARRAY genotyping: A case-control association study.
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
New methodology of TMB assessment from tissue and liquid biopsy in NSCLC.
Plos One
Křížová, Ľudmila Ľ; Šafaříková, Markéta M; Kalousová, Marta M; Pfeiferová, Lucie L; Kuběna, Aleš Antonín AA; Vočka, Michal M; Ulrych, Jan J; Franková, Věra V; Petruželka, Luboš L; Zima, Tomáš T; Feltl, David D
Publication Date: 2022
Variant appearance in text: HLA-B: 363C>G; Ser121Arg; rs1140412
Generation of patient-derived models from a metastatic pediatric diffuse leptomeningeal glioneuronal tumor with KIAA1549::BRAF fusion.
Acta Neuropathologica
Messiaen, Julie J; Claeys, Annelies A; Shetty, Aniket A; Spans, Lien L; Derweduwe, Marleen M; Uyttebroeck, Anne A; Depreitere, Bart B; Vanden Bempt, Isabelle I; Sciot, Raf R; Ligon, Keith L KL; Jones, David T W DTW; Jacobs, Sandra A SA; De Smet, Frederik F
Publication Date: 2022-10
Variant appearance in text: HLA-B: 363C>G; Ser121Arg; rs1140412
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
Construction and validation of an immunoediting-based optimized neoantigen load (ioTNL) model to predict the response and prognosis of immune checkpoint therapy in various cancers.
MHC Variants Associated With Symptomatic Versus Asymptomatic SARS-CoV-2 Infection in Highly Exposed Individuals.
Frontiers In Immunology
Castelli, Erick C EC; de Castro, Mateus V MV; Naslavsky, Michel S MS; Scliar, Marilia O MO; Silva, Nayane S B NSB; Andrade, Heloisa S HS; Souza, Andreia S AS; Pereira, Raphaela N RN; Castro, Camila F B CFB; Mendes-Junior, Celso T CT; Meyer, Diogo D; Nunes, Kelly K; Matos, Larissa R B LRB; Silva, Monize V R MVR; Wang, Jaqueline Y T JYT; Esposito, Joyce J; Coria, Vivian R VR; Bortolin, Raul H RH; Hirata, Mario H MH; Magawa, Jhosiene Y JY; Cunha-Neto, Edecio E; Coelho, Verônica V; Santos, Keity S KS; Marin, Maria Lucia C MLC; Kalil, Jorge J; Mitne-Neto, Miguel M; Maciel, Rui M B RMB; Passos-Bueno, Maria Rita MR; Zatz, Mayana M
Association of HLA-B Gene Polymorphisms with Type 2 Diabetes in Pashtun Ethnic Population of Khyber Pakhtunkhwa, Pakistan.
Journal Of Diabetes Research
Jan, Asif A; Saeed, Muhammad M; Afridi, Muhammad Hussain MH; Khuda, Fazli F; Shabbir, Muhammad M; Khan, Hamayun H; Ali, Sajid S; Hassan, Muhammad M; Samiullah, ; Akbar, Rani R; Zakiullah,
Publication Date: 2021
Variant appearance in text: HLA-B: 363C>G; Ser121Arg; rs1140412
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: HLA-B: 363C>G; S121R; rs1140412
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: HLA-B: 363C>G; Ser121Arg
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.
A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemia.
Cold Spring Harbor Molecular Case Studies
Lu, Charles C; Riedell, Peter P; Miller, Christopher A CA; Hagemann, Ian S IS; Westervelt, Peter P; Ozenberger, Bradley A BA; O'Laughlin, Michelle M; Magrini, Vincent V; Demeter, Ryan T RT; Duncavage, Eric J EJ; Griffith, Malachi M; Griffith, Obi L OL; Wartman, Lukas D LD
Study of Alzheimer family case reveals hemochromotosis-associated HFE mutation.
Human Genome Variation
Artemov, Artem V AV; Boulygina, Eugenia S ES; Tsygankova, Svetlana V SV; Nedoluzhko, Artem V AV; Chekanov, Nikolay N NN; Gruzdeva, Natalia M NM; Selezneva, Natalia D ND; Roshchina, Irina F IF; Gavrilova, Svetlana I SI; Velichkovsky, Boris B BB; Skryabin, Konstantin G KG; Prokhortchouk, Egor B EB
Major histocompatibility complex associations of ankylosing spondylitis are complex and involve further epistasis with ERAP1.
Nature Communications
Cortes, Adrian A; Pulit, Sara L SL; Leo, Paul J PJ; Pointon, Jenny J JJ; Robinson, Philip C PC; Weisman, Michael H MH; Ward, Michael M; Gensler, Lianne S LS; Zhou, Xiaodong X; Garchon, Henri-Jean HJ; Chiocchia, Gilles G; Nossent, Johannes J; Lie, Benedicte A BA; Førre, Øystein Ø; Tuomilehto, Jaakko J; Laiho, Kari K; Bradbury, Linda A LA; Elewaut, Dirk D; Burgos-Vargas, Ruben R; Stebbings, Simon S; Appleton, Louise L; Farrah, Claire C; Lau, Jonathan J; Haroon, Nigil N; Mulero, Juan J; Blanco, Francisco J FJ; Gonzalez-Gay, Miguel A MA; Lopez-Larrea, C C; Bowness, Paul P; Gaffney, Karl K; Gaston, Hill H; Gladman, Dafna D DD; Rahman, Proton P; Maksymowych, Walter P WP; Crusius, J Bart A JB; van der Horst-Bruinsma, Irene E IE; Valle-Oñate, Raphael R; Romero-Sánchez, Consuelo C; Hansen, Inger Myrnes IM; Pimentel-Santos, Fernando M FM; Inman, Robert D RD; Martin, Javier J; Breban, Maxime M; Wordsworth, Bryan Paul BP; Reveille, John D JD; Evans, David M DM; de Bakker, Paul I W PI; Brown, Matthew A MA
Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.
Febs Open Bio
Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M
Deep Sequence Analysis of Non-Small Cell Lung Cancer: Integrated Analysis of Gene Expression, Alternative Splicing, and Single Nucleotide Variations in Lung Adenocarcinomas with and without Oncogenic KRAS Mutations.
Frontiers In Oncology
Kalari, Krishna R KR; Rossell, David D; Necela, Brian M BM; Asmann, Yan W YW; Nair, Asha A; Baheti, Saurabh S; Kachergus, Jennifer M JM; Younkin, Curtis S CS; Baker, Tiffany T; Carr, Jennifer M JM; Tang, Xiaojia X; Walsh, Michael P MP; Chai, High-Seng HS; Sun, Zhifu Z; Hart, Steven N SN; Leontovich, Alexey A AA; Hossain, Asif A; Kocher, Jean-Pierre JP; Perez, Edith A EA; Reisman, David N DN; Fields, Alan P AP; Thompson, E Aubrey EA