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
Relationships between indicators of prothrombotic activity and coronary microvascular dysfunction in patients with myocardial infarction with obstructive and non-obstructive coronary artery disease.
Bmc Cardiovascular Disorders
Vorobeva, Darya A DA; Ryabov, Vyacheslav V VV; Lugacheva, Julia G JG; Zavadovsky, Konstantin V KV; Mochula, Andrew V AV
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
Early Postoperative Immunothrombosis of Bioprosthetic Mitral Valve and Left Atrium: A Case Report.
International Journal Of Molecular Sciences
Kostyunin, Alexander A; Glushkova, Tatiana T; Stasev, Alexander A; Mukhamadiyarov, Rinat R; Velikanova, Elena E; Bogdanov, Leo L; Sinitskaya, Anna A; Asanov, Maxim M; Ovcharenko, Evgeny E; Barbarash, Leonid L; Kutikhin, Anton A
Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.
Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Resolving Differential Diagnostic Problems in von Willebrand Disease, in Fibrinogen Disorders, in Prekallikrein Deficiency and in Hereditary Hemorrhagic Telangiectasia by Next-Generation Sequencing.
Life (Basel, Switzerland)
Gindele, Réka R; Kerényi, Adrienne A; Kállai, Judit J; Pfliegler, György G; Schlammadinger, Ágota Á; Szegedi, István I; Major, Tamás T; Szabó, Zsuzsanna Z; Bagoly, Zsuzsa Z; Kiss, Csongor C; Kappelmayer, János J; Bereczky, Zsuzsanna Z
Implementation of a Renal Precision Medicine Program: Clinician Attitudes and Acceptance.
Life (Basel, Switzerland)
Spiech, Katherine M KM; Tripathy, Purnima R PR; Woodcock, Alex M AM; Sheth, Nehal A NA; Collins, Kimberly S KS; Kannegolla, Karthik K; Sinha, Arjun D AD; Sharfuddin, Asif A AA; Pratt, Victoria M VM; Khalid, Myda M; Hains, David S DS; Moe, Sharon M SM; Skaar, Todd C TC; Moorthi, Ranjani N RN; Eadon, Michael T MT
Introducing the first whole genomes of nationals from the United Arab Emirates.
Scientific Reports
AlSafar, Habiba S HS; Al-Ali, Mariam M; Elbait, Gihan Daw GD; Al-Maini, Mustafa H MH; Ruta, Dymitr D; Peramo, Braulio B; Henschel, Andreas A; Tay, Guan K GK
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
Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction strategies in factor VII deficiency.
Haematologica
Ferraresi, Paolo P; Balestra, Dario D; Guittard, Caroline C; Buthiau, Delphine D; Pan-Petesh, Brigitte B; Maestri, Iva I; Farah, Roula R; Pinotti, Mirko M; Giansily-Blaizot, Muriel M
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
Publication Date: 2019-02-27
Variant appearance in text: F7: 1172G>A; Arg391Gln; rs6046
Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.
Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
Sex-Specific Genetic Susceptibility to Adverse Neurodevelopmental Outcome in Offspring of Pregnancies at Risk of Early Preterm Delivery.
American Journal Of Perinatology
Varner, Michael W MW; Costantine, Maged M MM; Jablonski, Kathleen A KA; Rouse, Dwight J DJ; Mercer, Brian M BM; Leveno, Kenneth J KJ; Reddy, Uma M UM; Buhimschi, Catalin C; Wapner, Ronald J RJ; Sorokin, Yoram Y; Thorp, John M JM; Ramin, Susan M SM; Malone, Fergal D FD; Carpenter, Marshall M; O'sullivan, Mary J MJ; Peaceman, Alan M AM; Dudley, Donald J DJ; Caritis, Steve N SN; ,
Analytical validity of a genotyping assay for use with personalized antihypertensive and chronic kidney disease therapy.
Pharmacogenetics And Genomics
Collins, Kimberly S KS; Pratt, Victoria M VM; Stansberry, Wesley M WM; Medeiros, Elizabeth B EB; Kannegolla, Karthik K; Swart, Marelize M; Skaar, Todd C TC; Chapman, Arlene B AB; Decker, Brian S BS; Moorthi, Ranjani N RN; Eadon, Michael T MT
Genetic Variation, Magnesium Sulfate Exposure, and Adverse Neurodevelopmental Outcomes Following Preterm Birth.
American Journal Of Perinatology
Clark, Erin A S EAS; Weiner, Steven J SJ; Rouse, Dwight J DJ; Mercer, Brian M BM; Reddy, Uma M UM; Iams, Jay D JD; Wapner, Ronald J RJ; Sorokin, Yoram Y; Malone, Fergal D FD; O'Sullivan, Mary J MJ; Peaceman, Alan M AM; Hankins, Gary D V GDV; Dudley, Donald J DJ; Caritis, Steve N SN; ,
Associations of activated coagulation factor VII and factor VIIa-antithrombin levels with genome-wide polymorphisms and cardiovascular disease risk.
Journal Of Thrombosis And Haemostasis : Jth
Olson, N C NC; Raffield, L M LM; Lange, L A LA; Lange, E M EM; Longstreth, W T WT; Chauhan, G G; Debette, S S; Seshadri, S S; Reiner, A P AP; Tracy, R P RP
Candidate SNP Markers of Familial and Sporadic Alzheimer's Diseases Are Predicted by a Significant Change in the Affinity of TATA-Binding Protein for Human Gene Promoters.
Frontiers In Aging Neuroscience
Ponomarenko, Petr P; Chadaeva, Irina I; Rasskazov, Dmitry A DA; Sharypova, Ekaterina E; Kashina, Elena V EV; Drachkova, Irina I; Zhechev, Dmitry D; Ponomarenko, Mikhail P MP; Savinkova, Ludmila K LK; Kolchanov, Nikolay N
Inherited Variation in Cytokine, Acute Phase Response, and Calcium Metabolism Genes Affects Susceptibility to Infective Endocarditis.
Mediators Of Inflammation
Ponasenko, Anastasia V AV; Kutikhin, Anton G AG; Khutornaya, Maria V MV; Rutkovskaya, Natalia V NV; Kondyukova, Natalia V NV; Odarenko, Yuri N YN; Kazachek, Yana V YV; Tsepokina, Anna V AV; Barbarash, Leonid S LS; Yuzhalin, Arseniy E AE
Integrative genomic and functional analysis of human oral squamous cell carcinoma cell lines reveals synergistic effects of FAT1 and CASP8 inactivation.
Cancer Letters
Hayes, Tyler F TF; Benaich, Nathan N; Goldie, Stephen J SJ; Sipilä, Kalle K; Ames-Draycott, Ashley A; Cai, Wenjun W; Yin, Guangliang G; Watt, Fiona M FM
A Genomics-Based Model for Prediction of Severe Bioprosthetic Mitral Valve Calcification.
International Journal Of Molecular Sciences
Ponasenko, Anastasia V AV; Khutornaya, Maria V MV; Kutikhin, Anton G AG; Rutkovskaya, Natalia V NV; Tsepokina, Anna V AV; Kondyukova, Natalia V NV; Yuzhalin, Arseniy E AE; Barbarash, Leonid S LS
The effects of genes implicated in cardiovascular disease on blood pressure response to treatment among treatment-naive hypertensive African Americans in the GenHAT study.
Journal Of Human Hypertension
Do, A N AN; Lynch, A I AI; Claas, S A SA; Boerwinkle, E E; Davis, B R BR; Ford, C E CE; Eckfeldt, J H JH; Tiwari, H K HK; Arnett, D K DK; Irvin, M R MR
Can Genetic Analysis of Putative Blood Alzheimer's Disease Biomarkers Lead to Identification of Susceptibility Loci?
Plos One
Barber, Robert C RC; Phillips, Nicole R NR; Tilson, Jeffrey L JL; Huebinger, Ryan M RM; Shewale, Shantanu J SJ; Koenig, Jessica L JL; Mitchel, Jeffrey S JS; O'Bryant, Sid E SE; Waring, Stephen C SC; Diaz-Arrastia, Ramon R; Chasse, Scott S; Wilhelmsen, Kirk C KC; , ; ,
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
Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF.
Blood
Huffman, Jennifer E JE; de Vries, Paul S PS; Morrison, Alanna C AC; Sabater-Lleal, Maria M; Kacprowski, Tim T; Auer, Paul L PL; Brody, Jennifer A JA; Chasman, Daniel I DI; Chen, Ming-Huei MH; Guo, Xiuqing X; Lin, Li-An LA; Marioni, Riccardo E RE; Müller-Nurasyid, Martina M; Yanek, Lisa R LR; Pankratz, Nathan N; Grove, Megan L ML; de Maat, Moniek P M MP; Cushman, Mary M; Wiggins, Kerri L KL; Qi, Lihong L; Sennblad, Bengt B; Harris, Sarah E SE; Polasek, Ozren O; Riess, Helene H; Rivadeneira, Fernando F; Rose, Lynda M LM; Goel, Anuj A; Taylor, Kent D KD; Teumer, Alexander A; Uitterlinden, André G AG; Vaidya, Dhananjay D; Yao, Jie J; Tang, Weihong W; Levy, Daniel D; Waldenberger, Melanie M; Becker, Diane M DM; Folsom, Aaron R AR; Giulianini, Franco F; Greinacher, Andreas A; Hofman, Albert A; Huang, Chiang-Ching CC; Kooperberg, Charles C; Silveira, Angela A; Starr, John M JM; Strauch, Konstantin K; Strawbridge, Rona J RJ; Wright, Alan F AF; McKnight, Barbara B; Franco, Oscar H OH; Zakai, Neil N; Mathias, Rasika A RA; Psaty, Bruce M BM; Ridker, Paul M PM; Tofler, Geoffrey H GH; Völker, Uwe U; Watkins, Hugh H; Fornage, Myriam M; Hamsten, Anders A; Deary, Ian J IJ; Boerwinkle, Eric E; Koenig, Wolfgang W; Rotter, Jerome I JI; Hayward, Caroline C; Dehghan, Abbas A; Reiner, Alex P AP; O'Donnell, Christopher J CJ; Smith, Nicholas L NL
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
Functional epistatic interaction between rs6046G>A in F7 and rs5355C>T in SELE modifies systolic blood pressure levels.
Plos One
El Shamieh, Said S; Ndiaye, Ndeye Coumba NC; Stathopoulou, Maria G MG; Murray, Helena A HA; Masson, Christine C; Lamont, John V JV; Fitzgerald, Peter P; Benetos, Athanase A; Visvikis-Siest, Sophie S
Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.
American Journal Of Human Genetics
Tang, Weihong W; Schwienbacher, Christine C; Lopez, Lorna M LM; Ben-Shlomo, Yoav Y; Oudot-Mellakh, Tiphaine T; Johnson, Andrew D AD; Samani, Nilesh J NJ; Basu, Saonli S; Gögele, Martin M; Davies, Gail G; Lowe, Gordon D O GD; Tregouet, David-Alexandre DA; Tan, Adrian A; Pankow, James S JS; Tenesa, Albert A; Levy, Daniel D; Volpato, Claudia B CB; Rumley, Ann A; Gow, Alan J AJ; Minelli, Cosetta C; Yarnell, John W G JW; Porteous, David J DJ; Starr, John M JM; Gallacher, John J; Boerwinkle, Eric E; Visscher, Peter M PM; Pramstaller, Peter P PP; Cushman, Mary M; Emilsson, Valur V; Plump, Andrew S AS; Matijevic, Nena N; Morange, Pierre-Emmanuel PE; Deary, Ian J IJ; Hicks, Andrew A AA; Folsom, Aaron R AR
Relationships of plasma factor VIIa-antithrombin complexes to manifest and future cardiovascular disease.
Thrombosis Research
Silveira, Angela A; Scanavini, Daniela D; Boquist, Susanna S; Ericsson, Carl-Göran CG; Hellénius, Mai-Lis ML; Leander, Karin K; de Faire, Ulf U; Ohrvik, John J; Woodhams, Barry B; Morrissey, James H JH; Hamsten, Anders A
Genetic variants and susceptibility to neurological complications following West Nile virus infection.
The Journal Of Infectious Diseases
Loeb, Mark M; Eskandarian, Sasha S; Rupp, Mark M; Fishman, Neil N; Gasink, Leanne L; Patterson, Jan J; Bramson, Jonathan J; Hudson, Thomas J TJ; Lemire, Mathieu M
A gene-centric association scan for Coagulation Factor VII levels in European and African Americans: the Candidate Gene Association Resource (CARe) Consortium.
Human Molecular Genetics
Taylor, Kira C KC; Lange, Leslie A LA; Zabaneh, Delilah D; Lange, Ethan E; Keating, Brendan J BJ; Tang, Weihong W; Smith, Nicholas L NL; Delaney, Joseph A JA; Kumari, Meena M; Hingorani, Aroon A; North, Kari E KE; Kivimaki, Mika M; Tracy, Russell P RP; O'Donnell, Christopher J CJ; Folsom, Aaron R AR; Green, David D; Humphries, Steve E SE; Reiner, Alexander P AP