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
SERPING1 Variants and C1-INH Biological Function: A Close Relationship With C1-INH-HAE.
Frontiers In Allergy
Drouet, Christian C; López-Lera, Alberto A; Ghannam, Arije A; López-Trascasa, Margarita M; Cichon, Sven S; Ponard, Denise D; Parsopoulou, Faidra F; Grombirikova, Hana H; Freiberger, Tomáš T; Rijavec, Matija M; Veronez, Camila L CL; Pesquero, João Bosco JB; Germenis, Anastasios E AE
Publication Date: 2022
Variant appearance in text: KNG1: 591T>G; Ile197Met
Integrated molecular profiling of patient-derived ovarian cancer models identifies clinically relevant signatures and tumor vulnerabilities.
International Journal Of Cancer
Lupia, Michela M; Melocchi, Valentina V; Bizzaro, Francesca F; Lo Riso, Pietro P; Dama, Elisa E; Baronio, Micol M; Ranghiero, Alberto A; Barberis, Massimo M; Bernard, Loris L; Bertalot, Giovanni G; Giavazzi, Raffaella R; Testa, Giuseppe G; Bianchi, Fabrizio F; Cavallaro, Ugo U
Publication Date: 2022-07-15
Variant appearance in text: KNG1: Ile197Met; rs2304456
Genetic Profile of Endotoxemia Reveals an Association With Thromboembolism and Stroke.
Journal Of The American Heart Association
Leskelä, Jaakko J; Toppila, Iiro I; Härma, Mari-Anne MA; Palviainen, Teemu T; Salminen, Aino A; Sandholm, Niina N; Pietiäinen, Milla M; Kopra, Elisa E; Pais de Barros, Jean-Paul JP; , ; Lassenius, Mariann I MI; Kumar, Anmol A; Harjutsalo, Valma V; Roslund, Kajsa K; Forsblom, Carol C; Loukola, Anu A; Havulinna, Aki S AS; Lagrost, Laurent L; Salomaa, Veikko V; Groop, Per-Henrik PH; Perola, Markus M; Kaprio, Jaakko J; Lehto, Markku M; Pussinen, Pirkko J PJ
Genetic Profile of Endotoxemia Reveals an Association With Thromboembolism and Stroke.
Journal Of The American Heart Association
Leskelä, Jaakko J; Toppila, Iiro I; Härma, Mari-Anne MA; Palviainen, Teemu T; Salminen, Aino A; Sandholm, Niina N; Pietiäinen, Milla M; Kopra, Elisa E; Pais de Barros, Jean-Paul JP; , ; Lassenius, Mariann I MI; Kumar, Anmol A; Harjutsalo, Valma V; Roslund, Kajsa K; Forsblom, Carol C; Loukola, Anu A; Havulinna, Aki S AS; Lagrost, Laurent L; Salomaa, Veikko V; Groop, Per-Henrik PH; Perola, Markus M; Kaprio, Jaakko J; Lehto, Markku M; Pussinen, Pirkko J PJ
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
Publication Date: 2021-05-29
Variant appearance in text: KNG1: 591T>G; Ile197Met; rs2304456
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: KNG1: I197M; rs2304456
Prospective study of plasma high molecular weight kininogen and prekallikrein and incidence of coronary heart disease, ischemic stroke and heart failure.
Thrombosis Research
Parikh, Romil R RR; Folsom, Aaron R AR; Misialek, Jeffrey R JR; Rosamond, Wayne D WD; Chang, Patricia P PP; Tang, Weihong W; Cushman, Mary 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
Publication Date: 2019-03-20
Variant appearance in text: KNG1: I197M; rs2304456
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: KNG1: I197M; rs2304456
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.
Connecting genetic risk to disease end points through the human blood plasma proteome.
Nature Communications
Suhre, Karsten K; Arnold, Matthias M; Bhagwat, Aditya Mukund AM; Cotton, Richard J RJ; Engelke, Rudolf R; Raffler, Johannes J; Sarwath, Hina H; Thareja, Gaurav G; Wahl, Annika A; DeLisle, Robert Kirk RK; Gold, Larry L; Pezer, Marija M; Lauc, Gordan G; El-Din Selim, Mohammed A MA; Mook-Kanamori, Dennis O DO; Al-Dous, Eman K EK; Mohamoud, Yasmin A YA; Malek, Joel J; Strauch, Konstantin K; Grallert, Harald H; Peters, Annette A; Kastenmüller, Gabi G; Gieger, Christian C; Graumann, Johannes J
Whole-exome sequencing reveals genetic variants associated with chronic kidney disease characterized by tubulointerstitial damages in North Central Region, Sri Lanka.
Environmental Health And Preventive Medicine
Nanayakkara, Shanika S; Senevirathna, S T M L D ST; Parahitiyawa, Nipuna B NB; Abeysekera, Tilak T; Chandrajith, Rohana R; Ratnatunga, Neelakanthi N; Hitomi, Toshiaki T; Kobayashi, Hatasu H; Harada, Kouji H KH; Koizumi, Akio A
Publication Date: 2015-09
Variant appearance in text: KNG1: 591T>G; I197M; rs2304456
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: KNG1: I197M; rs2304456
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
Publication Date: 2014
Variant appearance in text: KNG1: I197M; rs2304456
Common variants of large effect in F12, KNG1, and HRG are associated with activated partial thromboplastin time.
American Journal Of Human Genetics
Houlihan, Lorna M LM; Davies, Gail G; Tenesa, Albert A; Harris, Sarah E SE; Luciano, Michelle M; Gow, Alan J AJ; McGhee, Kevin A KA; Liewald, David C DC; Porteous, David J DJ; Starr, John M JM; Lowe, Gordon D GD; Visscher, Peter M PM; Deary, Ian J IJ