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
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
Combined exome and transcriptome sequencing of non-muscle-invasive bladder cancer: associations between genomic changes, expression subtypes, and clinical outcomes.
Genome Medicine
Goel, Anshita A; Ward, Douglas G DG; Noyvert, Boris B; Yu, Minghao M; Gordon, Naheema S NS; Abbotts, Ben B; Colbourne, John K JK; Kissane, Stephen S; James, Nicholas D ND; Zeegers, Maurice P MP; Cheng, Kar Keung KK; Cazier, Jean-Baptiste JB; Whalley, Celina M CM; Beggs, Andrew D AD; Palles, Claire C; Arnold, Roland R; Bryan, Richard T RT
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: UHRF1BP1: Q454R; rs11755393
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: UHRF1BP1: 1361A>G; Q454R; rs11755393
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: UHRF1BP1: 1361A>G; Gln454Arg
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: UHRF1BP1: Q454R; rs11755393
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: UHRF1BP1: Q454R; rs11755393
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
Publication Date: 2019-02-27
Variant appearance in text: UHRF1BP1: 1361A>G; rs11755393
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: UHRF1BP1: Q454R; rs11755393
Sex influences eQTL effects of SLE and Sjögren's syndrome-associated genetic polymorphisms.
Biology Of Sex Differences
Lindén, Magdalena M; Ramírez Sepúlveda, Jorge I JI; James, Tojo T; Thorlacius, Gudny Ella GE; Brauner, Susanna S; Gómez-Cabrero, David D; Olsson, Tomas T; Kockum, Ingrid I; Wahren-Herlenius, Marie M
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: UHRF1BP1: Q454R; rs11755393
PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.
Plos Computational Biology
Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J
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: UHRF1BP1: Q454R; rs11755393
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: UHRF1BP1: Q454R; rs11755393
Lupus nephritis susceptibility loci in women with systemic lupus erythematosus.
Journal Of The American Society Of Nephrology : Jasn
Chung, Sharon A SA; Brown, Elizabeth E EE; Williams, Adrienne H AH; Ramos, Paula S PS; Berthier, Celine C CC; Bhangale, Tushar T; Alarcon-Riquelme, Marta E ME; Behrens, Timothy W TW; Criswell, Lindsey A LA; Graham, Deborah Cunninghame DC; Demirci, F Yesim FY; Edberg, Jeffrey C JC; Gaffney, Patrick M PM; Harley, John B JB; Jacob, Chaim O CO; Kamboh, M Ilyas MI; Kelly, Jennifer A JA; Manzi, Susan S; Moser-Sivils, Kathy L KL; Russell, Laurie P LP; Petri, Michelle M; Tsao, Betty P BP; Vyse, Tim J TJ; Zidovetzki, Raphael R; Kretzler, Matthias M; Kimberly, Robert P RP; Freedman, Barry I BI; Graham, Robert R RR; Langefeld, Carl D CD; ,
GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.
Genes And Immunity
Armstrong, D L DL; Zidovetzki, R R; Alarcón-Riquelme, M E ME; Tsao, B P BP; Criswell, L A LA; Kimberly, R P RP; Harley, J B JB; Sivils, K L KL; Vyse, T J TJ; Gaffney, P M PM; Langefeld, C D CD; Jacob, C O CO
Derived immune and ancestral pigmentation alleles in a 7,000-year-old Mesolithic European.
Nature
Olalde, Iñigo I; Allentoft, Morten E ME; Sánchez-Quinto, Federico F; Santpere, Gabriel G; Chiang, Charleston W K CW; DeGiorgio, Michael M; Prado-Martinez, Javier J; Rodríguez, Juan Antonio JA; Rasmussen, Simon S; Quilez, Javier J; Ramírez, Oscar O; Marigorta, Urko M UM; Fernández-Callejo, Marcos M; Prada, María Encina ME; Encinas, Julio Manuel Vidal JM; Nielsen, Rasmus R; Netea, Mihai G MG; Novembre, John J; Sturm, Richard A RA; Sabeti, Pardis P; Marquès-Bonet, Tomàs T; Navarro, Arcadi A; Willerslev, Eske E; Lalueza-Fox, Carles C
Publication Date: 2014-03-13
Variant appearance in text: UHRF1BP1: Q454R; rs11755393
A genome-wide integrative genomic study localizes genetic factors influencing antibodies against Epstein-Barr virus nuclear antigen 1 (EBNA-1).
Plos Genetics
Rubicz, Rohina R; Yolken, Robert R; Drigalenko, Eugene E; Carless, Melanie A MA; Dyer, Thomas D TD; Bauman, Lara L; Melton, Phillip E PE; Kent, Jack W JW; Harley, John B JB; Curran, Joanne E JE; Johnson, Matthew P MP; Cole, Shelley A SA; Almasy, Laura L; Moses, Eric K EK; Dhurandhar, Nikhil V NV; Kraig, Ellen E; Blangero, John J; Leach, Charles T CT; Göring, Harald H H HH
Sex-specific differences in the relationship between genetic susceptibility, T cell DNA demethylation and lupus flare severity.
Journal Of Autoimmunity
Sawalha, Amr H AH; Wang, Lu L; Nadig, Ajay A; Somers, Emily C EC; McCune, W Joseph WJ; , ; Hughes, Travis T; Merrill, Joan T JT; Scofield, R Hal RH; Strickland, Faith M FM; Richardson, Bruce B
Study of the common genetic background for rheumatoid arthritis and systemic lupus erythematosus.
Annals Of The Rheumatic Diseases
Orozco, Gisela G; Eyre, Steve S; Hinks, Anne A; Bowes, John J; Morgan, Ann W AW; Wilson, Anthony G AG; Wordsworth, Paul P; Steer, Sophia S; Hocking, Lynne L; , ; Thomson, Wendy W; Worthington, Jane J; Barton, Anne A