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
Genetic Factors for Coronary Heart Disease and Their Mechanisms: A Meta-Analysis and Comprehensive Review of Common Variants from Genome-Wide Association Studies.
Diagnostics (Basel, Switzerland)
Zarkasi, Khairul Anwar KA; Abdullah, Noraidatulakma N; Abdul Murad, Nor Azian NA; Ahmad, Norfazilah N; Jamal, Rahman R
Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C
Publication Date: 2022-10-21
Variant appearance in text: ZC3HC1: 1088G>A; Arg363His; rs11556924
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
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
Publication Date: 2022-06-29
Variant appearance in text: ZC3HC1: R363H; rs11556924
The Impact of Genetic Polymorphisms in Glutamate-Cysteine Ligase, a Key Enzyme of Glutathione Biosynthesis, on Ischemic Stroke Risk and Brain Infarct Size.
Life (Basel, Switzerland)
Polonikov, Alexey A; Bocharova, Iuliia I; Azarova, Iuliia I; Klyosova, Elena E; Bykanova, Marina M; Bushueva, Olga O; Polonikova, Anna A; Churnosov, Mikhail M; Solodilova, Maria M
The Pharmacogenetics of Statin Therapy on Clinical Events: No Evidence that Genetic Variation Affects Statin Response on Myocardial Infarction.
Frontiers In Pharmacology
Trompet, Stella S; Postmus, Iris I; Warren, Helen R HR; Noordam, Raymond R; Smit, Roelof A J RAJ; Theusch, Elizabeth E; Li, Xiaohui X; Arsenault, Benoit B; Chasman, Daniel I DI; Hitman, Graham A GA; Munroe, Patricia B PB; Rotter, Jerome I JI; Psaty, Bruce M BM; Caulfield, Mark J MJ; Krauss, Ron M RM; Cupples, Adrienne L AL; Jukema, Wouter J WJ
Coronary Heart Disease in Type 2 Diabetes Mellitus: Genetic Factors and Their Mechanisms, Gene-Gene, and Gene-Environment Interactions in the Asian Populations.
International Journal Of Environmental Research And Public Health
Zarkasi, Khairul Anwar KA; Abdul Murad, Nor Azian NA; Ahmad, Norfazilah N; Jamal, Rahman R; Abdullah, Noraidatulakma N
Coronary Heart Disease in Type 2 Diabetes Mellitus: Genetic Factors and Their Mechanisms, Gene-Gene, and Gene-Environment Interactions in the Asian Populations.
International Journal Of Environmental Research And Public Health
Zarkasi, Khairul Anwar KA; Abdul Murad, Nor Azian NA; Ahmad, Norfazilah N; Jamal, Rahman R; Abdullah, Noraidatulakma N
Polygenic basis and biomedical consequences of telomere length variation.
Nature Genetics
Codd, Veryan V; Wang, Qingning Q; Allara, Elias E; Musicha, Crispin C; Kaptoge, Stephen S; Stoma, Svetlana S; Jiang, Tao T; Hamby, Stephen E SE; Braund, Peter S PS; Bountziouka, Vasiliki V; Budgeon, Charley A CA; Denniff, Matthew M; Swinfield, Chloe C; Papakonstantinou, Manolo M; Sheth, Shilpi S; Nanus, Dominika E DE; Warner, Sophie C SC; Wang, Minxian M; Khera, Amit V AV; Eales, James J; Ouwehand, Willem H WH; Thompson, John R JR; Di Angelantonio, Emanuele E; Wood, Angela M AM; Butterworth, Adam S AS; Danesh, John N JN; Nelson, Christopher P CP; Samani, Nilesh J NJ
Polygenic basis and biomedical consequences of telomere length variation.
Nature Genetics
Codd, Veryan V; Wang, Qingning Q; Allara, Elias E; Musicha, Crispin C; Kaptoge, Stephen S; Stoma, Svetlana S; Jiang, Tao T; Hamby, Stephen E SE; Braund, Peter S PS; Bountziouka, Vasiliki V; Budgeon, Charley A CA; Denniff, Matthew M; Swinfield, Chloe C; Papakonstantinou, Manolo M; Sheth, Shilpi S; Nanus, Dominika E DE; Warner, Sophie C SC; Wang, Minxian M; Khera, Amit V AV; Eales, James J; Ouwehand, Willem H WH; Thompson, John R JR; Di Angelantonio, Emanuele E; Wood, Angela M AM; Butterworth, Adam S AS; Danesh, John N JN; Nelson, Christopher P CP; Samani, Nilesh J NJ
Epicardial Adipose Tissue: The Genetics Behind an Emerging Cardiovascular Risk Marker.
Clinical Medicine Insights. Cardiology
Sousa, João Adriano JA; Mendonça, Maria Isabel MI; Serrão, Marco M; Borges, Sofia S; Henriques, Eva E; Freitas, Sónia S; Tentem, Margarida M; Santos, Marina M; Freitas, Pedro P; Ferreira, António A; Guerra, Graça G; Drumond, António A; Palma Reis, Roberto R
Discovery and prioritization of variants and genes for kidney function in >1.2 million individuals.
Nature Communications
Stanzick, Kira J KJ; Li, Yong Y; Schlosser, Pascal P; Gorski, Mathias M; Wuttke, Matthias M; Thomas, Laurent F LF; Rasheed, Humaira H; Rowan, Bryce X BX; Graham, Sarah E SE; Vanderweff, Brett R BR; Patil, Snehal B SB; , ; Robinson-Cohen, Cassiane C; Gaziano, John M JM; O'Donnell, Christopher J CJ; Willer, Cristen J CJ; Hallan, Stein S; Åsvold, Bjørn Olav BO; Gessner, Andre A; Hung, Adriana M AM; Pattaro, Cristian C; Köttgen, Anna A; Stark, Klaus J KJ; Heid, Iris M IM; Winkler, Thomas W TW
Publication Date: 2021-07-16
Variant appearance in text: ZC3HC1: Arg363His; rs11556924
Polygenic risk scores predict diabetes complications and their response to intensive blood pressure and glucose control.
Diabetologia
Tremblay, Johanne J; Haloui, Mounsif M; Attaoua, Redha R; Tahir, Ramzan R; Hishmih, Camil C; Harvey, François F; Marois-Blanchet, François-Christophe FC; Long, Carole C; Simon, Paul P; Santucci, Lara L; Hizel, Candan C; Chalmers, John J; Marre, Michel M; Harrap, Stephen S; Cífková, Renata R; Krajčoviechová, Alena A; Matthews, David R DR; Williams, Bryan B; Poulter, Neil N; Zoungas, Sophia S; Colagiuri, Stephen S; Mancia, Giuseppe G; Grobbee, Diederick E DE; Rodgers, Anthony A; Liu, Liusheng L; Agbessi, Mawussé M; Bruat, Vanessa V; Favé, Marie-Julie MJ; Harwood, Michelle P MP; Awadalla, Philip P; Woodward, Mark M; Hussin, Julie G JG; Hamet, Pavel P
Genetic information improves the prediction of major adverse cardiovascular events in the GENEMACOR population.
Genetics And Molecular Biology
Mendonça, Maria Isabel MI; Henriques, Eva E; Borges, Sofia S; Sousa, Ana Célia AC; Pereira, Andreia A; Santos, Marina M; Temtem, Margarida M; Freitas, Sónia S; Monteiro, Joel J; Sousa, João Adriano JA; Rodrigues, Ricardo R; Guerra, Graça G; Reis, Roberto Palma Dos RPD
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: ZC3HC1: 1088G>A; R363H; rs11556924
Integrative Genomic-Epigenomic Analysis of Clozapine-Treated Patients with Refractory Psychosis.
Pharmaceuticals (Basel, Switzerland)
Mayén-Lobo, Yerye Gibrán YG; Martínez-Magaña, José Jaime JJ; Pérez-Aldana, Blanca Estela BE; Ortega-Vázquez, Alberto A; Genis-Mendoza, Alma Delia AD; Dávila-Ortiz de Montellano, David José DJ; Soto-Reyes, Ernesto E; Nicolini, Humberto H; López-López, Marisol M; Monroy-Jaramillo, Nancy N
Publication Date: 2021-02-04
Variant appearance in text: ZC3HC1: Arg363His; rs11556924
Cardiovascular risk factor mediation of the effects of education and Genetic Risk Score on cardiovascular disease: a prospective observational cohort study of the Framingham Heart Study.
Bmj Open
Powell, Katie L KL; Stephens, Sebastien R SR; Stephens, Alexandre S AS
Functionally informed fine-mapping and polygenic localization of complex trait heritability.
Nature Genetics
Weissbrod, Omer O; Hormozdiari, Farhad F; Benner, Christian C; Cui, Ran R; Ulirsch, Jacob J; Gazal, Steven S; Schoech, Armin P AP; van de Geijn, Bryce B; Reshef, Yakir Y; Márquez-Luna, Carla C; O'Connor, Luke L; Pirinen, Matti M; Finucane, Hilary K HK; Price, Alkes L AL
Prioritization of causal genes for coronary artery disease based on cumulative evidence from experimental and in silico studies.
Scientific Reports
Shadrina, Alexandra S AS; Shashkova, Tatiana I TI; Torgasheva, Anna A AA; Sharapov, Sodbo Z SZ; Klarić, Lucija L; Pakhomov, Eugene D ED; Alexeev, Dmitry G DG; Wilson, James F JF; Tsepilov, Yakov A YA; Joshi, Peter K PK; Aulchenko, Yurii S YS
Leveraging Genome and Phenome-Wide Association Studies to Investigate Genetic Risk of Acute Lymphoblastic Leukemia.
Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Semmes, Eleanor C EC; Vijayakrishnan, Jayaram J; Zhang, Chenan C; Hurst, Jillian H JH; Houlston, Richard S RS; Walsh, Kyle M KM
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
Circulating Levels of Insulin-like Growth Factor 1 and Insulin-like Growth Factor Binding Protein 3 Associate With Risk of Colorectal Cancer Based on Serologic and Mendelian Randomization Analyses.
Gastroenterology
Murphy, Neil N; Carreras-Torres, Robert R; Song, Mingyang M; Chan, Andrew T AT; Martin, Richard M RM; Papadimitriou, Nikos N; Dimou, Niki N; Tsilidis, Konstantinos K KK; Banbury, Barbara B; Bradbury, Kathryn E KE; Besevic, Jelena J; Rinaldi, Sabina S; Riboli, Elio E; Cross, Amanda J AJ; Travis, Ruth C RC; Agnoli, Claudia C; Albanes, Demetrius D; Berndt, Sonja I SI; Bézieau, Stéphane S; Bishop, D Timothy DT; Brenner, Hermann H; Buchanan, Daniel D DD; Onland-Moret, N Charlotte NC; Burnett-Hartman, Andrea A; Campbell, Peter T PT; Casey, Graham G; Castellví-Bel, Sergi S; Chang-Claude, Jenny J; Chirlaque, María-Dolores MD; de la Chapelle, Albert A; English, Dallas D; Figueiredo, Jane C JC; Gallinger, Steven J SJ; Giles, Graham G GG; Gruber, Stephen B SB; Gsur, Andrea A; Hampe, Jochen J; Hampel, Heather H; Harrison, Tabitha A TA; Hoffmeister, Michael M; Hsu, Li L; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Keku, Temitope O TO; Kühn, Tilman T; Kweon, Sun-Seog SS; Le Marchand, Loic L; Li, Christopher I CI; Li, Li L; Lindblom, Annika A; Martín, Vicente V; Milne, Roger L RL; Moreno, Victor V; Newcomb, Polly A PA; Offit, Kenneth K; Ogino, Shuji S; Ose, Jennifer J; Perduca, Vittorio V; Phipps, Amanda I AI; Platz, Elizabeth A EA; Potter, John D JD; Qu, Conghui C; Rennert, Gad G; Sakoda, Lori C LC; Schafmayer, Clemens C; Schoen, Robert E RE; Slattery, Martha L ML; Tangen, Catherine M CM; Ulrich, Cornelia M CM; van Duijnhoven, Franzel J B FJB; Van Guelpen, Bethany B; Visvanathan, Kala K; Vodicka, Pavel P; Vodickova, Ludmila L; Vymetalkova, Veronika V; Wang, Hansong H; White, Emily E; Wolk, Alicja A; Woods, Michael O MO; Wu, Anna H AH; Zheng, Wei W; Peters, Ulrike U; Gunter, Marc J MJ
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: ZC3HC1: R363H; rs11556924
A genome-wide association and replication study of blood pressure in Ugandan early adolescents.
Molecular Genetics & Genomic Medicine
Lule, Swaib A SA; Mentzer, Alexander J AJ; Namara, Benigna B; Muwenzi, Allan G AG; Nassanga, Beatrice B; Kizito, Dennison D; Akurut, Helen H; Lubyayi, Lawrence L; Tumusiime, Josephine J; Zziwa, Christopher C; Akello, Florence F; Gurdasani, Deept D; Sandhu, Manjinder M; Smeeth, Liam L; Elliott, Alison M AM; Webb, Emily L EL
Breast cancer quantitative proteome and proteogenomic landscape.
Nature Communications
Johansson, Henrik J HJ; Socciarelli, Fabio F; Vacanti, Nathaniel M NM; Haugen, Mads H MH; Zhu, Yafeng Y; Siavelis, Ioannis I; Fernandez-Woodbridge, Alejandro A; Aure, Miriam R MR; Sennblad, Bengt B; Vesterlund, Mattias M; Branca, Rui M RM; Orre, Lukas M LM; Huss, Mikael M; Fredlund, Erik E; Beraki, Elsa E; Garred, Øystein Ø; Boekel, Jorrit J; Sauer, Torill T; Zhao, Wei W; Nord, Silje S; Höglander, Elen K EK; Jans, Daniel C DC; Brismar, Hjalmar H; Haukaas, Tonje H TH; Bathen, Tone F TF; Schlichting, Ellen E; Naume, Bjørn B; , ; Luders, Torben T; Borgen, Elin E; Kristensen, Vessela N VN; Russnes, Hege G HG; Lingjærde, Ole Christian OC; Mills, Gordon B GB; Sahlberg, Kristine K KK; Børresen-Dale, Anne-Lise AL; Lehtiö, Janne J
Publication Date: 2019-04-08
Variant appearance in text: ZC3HC1: 1088G>A; R363H; rs11556924
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: ZC3HC1: R363H; rs11556924
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: ZC3HC1: 1088G>A; rs11556924