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
Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
Embo Molecular Medicine
El-Gazzar, Ahmed A; Voraberger, Barbara B; Rauch, Frank F; Mairhofer, Mario M; Schmidt, Katy K; Guillemyn, Brecht B; Mitulović, Goran G; Reiterer, Veronika V; Haun, Margot M; Mayr, Michaela M MM; Mayr, Johannes A JA; Kimeswenger, Susanne S; Drews, Oliver O; Saraff, Vrinda V; Shaw, Nick N; Fratzl-Zelman, Nadja N; Symoens, Sofie S; Farhan, Hesso H; Högler, Wolfgang W
Publication Date: 2023-03-14
Variant appearance in text: MGA: 4567C>G; Pro1523Ala
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
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: MGA: 4567C>G; Pro1523Ala
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: MGA: P1523A; rs17677991
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: MXD5: 4567C>G; rs17677991
Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution.
Nature Genetics
Justice, Anne E AE; Karaderi, Tugce T; Highland, Heather M HM; Young, Kristin L KL; Graff, Mariaelisa M; Lu, Yingchang Y; Turcot, Valérie V; Auer, Paul L PL; Fine, Rebecca S RS; Guo, Xiuqing X; Schurmann, Claudia C; Lempradl, Adelheid A; Marouli, Eirini E; Mahajan, Anubha A; Winkler, Thomas W TW; Locke, Adam E AE; Medina-Gomez, Carolina C; Esko, Tõnu T; Vedantam, Sailaja S; Giri, Ayush A; Lo, Ken Sin KS; Alfred, Tamuno T; Mudgal, Poorva P; Ng, Maggie C Y MCY; Heard-Costa, Nancy L NL; Feitosa, Mary F MF; Manning, Alisa K AK; Willems, Sara M SM; Sivapalaratnam, Suthesh S; Abecasis, Goncalo G; Alam, Dewan S DS; Allison, Matthew M; Amouyel, Philippe P; Arzumanyan, Zorayr Z; Balkau, Beverley B; Bastarache, Lisa L; Bergmann, Sven S; Bielak, Lawrence F LF; Blüher, Matthias M; Boehnke, Michael M; Boeing, Heiner H; Boerwinkle, Eric E; Böger, Carsten A CA; Bork-Jensen, Jette J; Bottinger, Erwin P EP; Bowden, Donald W DW; Brandslund, Ivan I; Broer, Linda L; Burt, Amber A AA; Butterworth, Adam S AS; Caulfield, Mark J MJ; Cesana, Giancarlo G; Chambers, John C JC; Chasman, Daniel I DI; Chen, Yii-Der Ida YI; Chowdhury, Rajiv R; Christensen, Cramer C; Chu, Audrey Y AY; Collins, Francis S FS; Cook, James P JP; Cox, Amanda J AJ; Crosslin, David S DS; Danesh, John J; de Bakker, Paul I W PIW; Denus, Simon de S; Mutsert, Renée de R; Dedoussis, George G; Demerath, Ellen W EW; Dennis, Joe G JG; Denny, Josh C JC; Di Angelantonio, Emanuele E; Dörr, Marcus M; Drenos, Fotios F; Dubé, Marie-Pierre MP; Dunning, Alison M AM; Easton, Douglas F DF; Elliott, Paul P; Evangelou, Evangelos E; Farmaki, Aliki-Eleni AE; Feng, Shuang S; Ferrannini, Ele E; Ferrieres, Jean J; Florez, Jose C JC; Fornage, Myriam M; Fox, Caroline S CS; Franks, Paul W PW; Friedrich, Nele N; Gan, Wei W; Gandin, Ilaria I; Gasparini, Paolo P; Giedraitis, Vilmantas V; Girotto, Giorgia G; Gorski, Mathias M; Grallert, Harald H; Grarup, Niels N; Grove, Megan L ML; Gustafsson, Stefan S; Haessler, Jeff J; Hansen, Torben T; Hattersley, Andrew T AT; Hayward, Caroline C; Heid, Iris M IM; Holmen, Oddgeir L OL; Hovingh, G Kees GK; Howson, Joanna M M JMM; Hu, Yao Y; Hung, Yi-Jen YJ; Hveem, Kristian K; Ikram, M Arfan MA; Ingelsson, Erik E; Jackson, Anne U AU; Jarvik, Gail P GP; Jia, Yucheng Y; Jørgensen, Torben T; Jousilahti, Pekka P; Justesen, Johanne M JM; Kahali, Bratati B; Karaleftheri, Maria M; Kardia, Sharon L R SLR; Karpe, Fredrik F; Kee, Frank F; Kitajima, Hidetoshi H; Komulainen, Pirjo P; Kooner, Jaspal S JS; Kovacs, Peter P; Krämer, Bernhard K BK; Kuulasmaa, Kari K; Kuusisto, Johanna J; Laakso, Markku M; Lakka, Timo A TA; Lamparter, David D; Lange, Leslie A LA; Langenberg, Claudia C; Larson, Eric B EB; Lee, Nanette R NR; Lee, Wen-Jane WJ; Lehtimäki, Terho T; Lewis, Cora E CE; Li, Huaixing H; Li, Jin J; Li-Gao, Ruifang R; Lin, Li-An LA; Lin, Xu X; Lind, Lars L; Lindström, Jaana J; Linneberg, Allan A; Liu, Ching-Ti CT; Liu, Dajiang J DJ; Luan, Jian'an J; Lyytikäinen, Leo-Pekka LP; MacGregor, Stuart S; Mägi, Reedik R; Männistö, Satu S; Marenne, Gaëlle G; Marten, Jonathan J; Masca, Nicholas G D NGD; McCarthy, Mark I MI; Meidtner, Karina K; Mihailov, Evelin E; Moilanen, Leena L; Moitry, Marie M; Mook-Kanamori, Dennis O DO; Morgan, Anna A; Morris, Andrew P AP; Müller-Nurasyid, Martina M; Munroe, Patricia B PB; Narisu, Narisu N; Nelson, Christopher P CP; Neville, Matt M; Ntalla, Ioanna I; O'Connell, Jeffrey R JR; Owen, Katharine R KR; Pedersen, Oluf O; Peloso, Gina M GM; Pennell, Craig E CE; Perola, Markus M; Perry, James A JA; Perry, John R B JRB; Pers, Tune H TH; Ewing, Ailith A; Polasek, Ozren O; Raitakari, Olli T OT; Rasheed, Asif A; Raulerson, Chelsea K CK; Rauramaa, Rainer R; Reilly, Dermot F DF; Reiner, Alex P AP; Ridker, Paul M PM; Rivas, Manuel A MA; Robertson, Neil R NR; Robino, Antonietta A; Rudan, Igor I; Ruth, Katherine S KS; Saleheen, Danish D; Salomaa, Veikko V; Samani, Nilesh J NJ; Schreiner, Pamela J PJ; Schulze, Matthias B MB; Scott, Robert A RA; Segura-Lepe, Marcelo M; Sim, Xueling X; Slater, Andrew J AJ; Small, Kerrin S KS; Smith, Blair H BH; Smith, Jennifer A JA; Southam, Lorraine L; Spector, Timothy D TD; Speliotes, Elizabeth K EK; Stefansson, Kari K; Steinthorsdottir, Valgerdur V; Stirrups, Kathleen E KE; Strauch, Konstantin K; Stringham, Heather M HM; Stumvoll, Michael M; Sun, Liang L; Surendran, Praveen P; Swart, Karin M A KMA; Tardif, Jean-Claude JC; Taylor, Kent D KD; Teumer, Alexander A; Thompson, Deborah J DJ; Thorleifsson, Gudmar G; Thorsteinsdottir, Unnur U; Thuesen, Betina H BH; Tönjes, Anke A; Torres, Mina M; Tsafantakis, Emmanouil E; Tuomilehto, Jaakko J; Uitterlinden, André G AG; Uusitupa, Matti M; van Duijn, Cornelia M CM; Vanhala, Mauno M; Varma, Rohit R; Vermeulen, Sita H SH; Vestergaard, Henrik H; Vitart, Veronique V; Vogt, Thomas F TF; Vuckovic, Dragana D; Wagenknecht, Lynne E LE; Walker, Mark M; Wallentin, Lars L; Wang, Feijie F; Wang, Carol A CA; Wang, Shuai S; Wareham, Nicholas J NJ; Warren, Helen R HR; Waterworth, Dawn M DM; Wessel, Jennifer J; White, Harvey D HD; Willer, Cristen J CJ; Wilson, James G JG; Wood, Andrew R AR; Wu, Ying Y; Yaghootkar, Hanieh H; Yao, Jie J; Yerges-Armstrong, Laura M LM; Young, Robin R; Zeggini, Eleftheria E; Zhan, Xiaowei X; Zhang, Weihua W; Zhao, Jing Hua JH; Zhao, Wei W; Zheng, He H; Zhou, Wei W; Zillikens, M Carola MC; Rivadeneira, Fernando F; Borecki, Ingrid B IB; Pospisilik, J Andrew JA; Deloukas, Panos P; Frayling, Timothy M TM; Lettre, Guillaume G; Mohlke, Karen L KL; Rotter, Jerome I JI; Kutalik, Zoltán Z; Hirschhorn, Joel N JN; Cupples, L Adrienne LA; Loos, Ruth J F RJF; North, Kari E KE; Lindgren, Cecilia M CM; , ; , ; , ; , ; , ; , ; , ; , ; , ; ,
Publication Date: 2019-03
Variant appearance in text: MGA: P1523A; rs17677991
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: MGA: P1523A; rs17677991
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: MGA: P1523A; rs17677991
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: MGA: P1523A; rs17677991