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: PAPPA: 3671C>A; Ser1224Tyr
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
Structure of the PAPP-ABP5 complex reveals mechanism of substrate recognition.
Nature Communications
Judge, Russell A RA; Sridar, Janani J; Tunyasuvunakool, Kathryn K; Jain, Rinku R; Wang, John C K JCK; Ouch, Christna C; Xu, Jun J; Mafi, Amirhossein A; Nile, Aaron H AH; Remarcik, Clint C; Smith, Corey L CL; Ghosh, Crystal C; Xu, Chen C; Stoll, Vincent V; Jumper, John J; Singh, Amoolya H AH; Eaton, Dan D; Hao, Qi Q
Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank.
Nature Genetics
Jurgens, Sean J SJ; Choi, Seung Hoan SH; Morrill, Valerie N VN; Chaffin, Mark M; Pirruccello, James P JP; Halford, Jennifer L JL; Weng, Lu-Chen LC; Nauffal, Victor V; Roselli, Carolina C; Hall, Amelia W AW; Oetjens, Matthew T MT; Lagerman, Braxton B; vanMaanen, David P DP; , ; Aragam, Krishna G KG; Lunetta, Kathryn L KL; Haggerty, Christopher M CM; Lubitz, Steven A SA; Ellinor, Patrick T PT
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: PAPPA: 3671C>A; Ser1224Tyr; rs7020782
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: PAPPA: 3671C>A; S1224Y; rs7020782
Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.
Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08
Variant appearance in text: PAPPA: 3671C>A; S1224Y; rs7020782
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: PAPPA: S1224Y; rs7020782
A common variant of the pregnancy-associated plasma protein-A (PAPPA) gene encodes a protein with reduced proteolytic activity towards IGF-binding proteins.
Scientific Reports
Bøtkjær, Jane Alrø JA; Noer, Pernille Rimmer PR; Oxvig, Claus C; Yding Andersen, Claus C
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: PAPPA: S1224Y; rs7020782
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
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
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: PAPPA: S1224Y; rs7020782
The Immunosignature of Mother/Fetus Couples in Gestational Diabetes Mellitus: Role of HLA-G 14 bp ins/del and PAPP-A A/C Polymorphisms in the Uterine Inflammatory Milieu.
Disease Markers
Martinetti, Miryam M; Beneventi, Fausta F; Capittini, Cristina C; Locatelli, Elena E; Simonetta, Margherita M; Cavagnoli, Chiara C; De Maggio, Irene I; De Silvestri, Annalisa A; Pasi, Annamaria A; Spinillo, Arsenio A
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: PAPPA: S1224Y; rs7020782
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: PAPPA: S1224Y; rs7020782
Genetic relationship between serum pregnancy-associated plasma protein-A gene polymorphism and ischemic cerebrovascular disease in a Northern Han Chinese population.
Neural Regeneration Research
Wang, Haiping H; Song, Yan Y; Zhang, Chen C; Zhan, Jingjing J; Zhang, Rui R; Wang, Haiji H
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: PAPPA: S1224Y; rs7020782
Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height.
American Journal Of Human Genetics
Lanktree, Matthew B MB; Guo, Yiran Y; Murtaza, Muhammed M; Glessner, Joseph T JT; Bailey, Swneke D SD; Onland-Moret, N Charlotte NC; Lettre, Guillaume G; Ongen, Halit H; Rajagopalan, Ramakrishnan R; Johnson, Toby T; Shen, Haiqing H; Nelson, Christopher P CP; Klopp, Norman N; Baumert, Jens J; Padmanabhan, Sandosh S; Pankratz, Nathan N; Pankow, James S JS; Shah, Sonia S; Taylor, Kira K; Barnard, John J; Peters, Bas J BJ; Maloney, Cliona M CM; Lobmeyer, Maximilian T MT; Stanton, Alice A; Zafarmand, M Hadi MH; Romaine, Simon P R SP; Mehta, Amar A; van Iperen, Erik P A EP; Gong, Yan Y; Price, Tom S TS; Smith, Erin N EN; Kim, Cecilia E CE; Li, Yun R YR; Asselbergs, Folkert W FW; Atwood, Larry D LD; Bailey, Kristian M KM; Bhatt, Deepak D; Bauer, Florianne F; Behr, Elijah R ER; Bhangale, Tushar T; Boer, Jolanda M A JM; Boehm, Bernhard O BO; Bradfield, Jonathan P JP; Brown, Morris M; Braund, Peter S PS; Burton, Paul R PR; Carty, Cara C; Chandrupatla, Hareesh R HR; Chen, Wei W; Connell, John J; Dalgeorgou, Chrysoula C; Boer, Anthonius de Ad; Drenos, Fotios F; Elbers, Clara C CC; Fang, James C JC; Fox, Caroline S CS; Frackelton, Edward C EC; Fuchs, Barry B; Furlong, Clement E CE; Gibson, Quince Q; Gieger, Christian C; Goel, Anuj A; Grobbee, Diederik E DE; Hastie, Claire C; Howard, Philip J PJ; Huang, Guan-Hua GH; Johnson, W Craig WC; Li, Qing Q; Kleber, Marcus E ME; Klein, Barbara E K BE; Klein, Ronald R; Kooperberg, Charles C; Ky, Bonnie B; Lacroix, Andrea A; Lanken, Paul P; Lathrop, Mark M; Li, Mingyao M; Marshall, Vanessa V; Melander, Olle O; Mentch, Frank D FD; Meyer, Nuala J NJ; Monda, Keri L KL; Montpetit, Alexandre A; Murugesan, Gurunathan G; Nakayama, Karen K; Nondahl, Dave D; Onipinla, Abiodun A; Rafelt, Suzanne S; Newhouse, Stephen J SJ; Otieno, F George FG; Patel, Sanjey R SR; Putt, Mary E ME; Rodriguez, Santiago S; Safa, Radwan N RN; Sawyer, Douglas B DB; Schreiner, Pamela J PJ; Simpson, Claire C; Sivapalaratnam, Suthesh S; Srinivasan, Sathanur R SR; Suver, Christine C; Swergold, Gary G; Sweitzer, Nancy K NK; Thomas, Kelly A KA; Thorand, Barbara B; Timpson, Nicholas J NJ; Tischfield, Sam S; Tobin, Martin M; Tomaszewski, Maciej M; Tomaszweski, Maciej M; Verschuren, W M Monique WM; Wallace, Chris C; Winkelmann, Bernhard B; Zhang, Haitao H; Zheng, Dongling D; Zhang, Li L; Zmuda, Joseph M JM; Clarke, Robert R; Balmforth, Anthony J AJ; Danesh, John J; Day, Ian N IN; Schork, Nicholas J NJ; de Bakker, Paul I W PI; Delles, Christian C; Duggan, David D; Hingorani, Aroon D AD; Hirschhorn, Joel N JN; Hofker, Marten H MH; Humphries, Steve E SE; Kivimaki, Mika M; Lawlor, Debbie A DA; Kottke-Marchant, Kandice K; Mega, Jessica L JL; Mitchell, Braxton D BD; Morrow, David A DA; Palmen, Jutta J; Redline, Susan S; Shields, Denis C DC; Shuldiner, Alan R AR; Sleiman, Patrick M PM; Smith, George Davey GD; Farrall, Martin M; Jamshidi, Yalda Y; Christiani, David C DC; Casas, Juan P JP; Hall, Alistair S AS; Doevendans, Pieter A PA; Christie, Jason D JD; Berenson, Gerald S GS; Murray, Sarah S SS; Illig, Thomas T; Dorn, Gerald W GW; Cappola, Thomas P TP; Boerwinkle, Eric E; Sever, Peter P; Rader, Daniel J DJ; Reilly, Muredach P MP; Caulfield, Mark M; Talmud, Philippa J PJ; Topol, Eric E; Engert, James C JC; Wang, Kai K; Dominiczak, Anna A; Hamsten, Anders A; Curtis, Sean P SP; Silverstein, Roy L RL; Lange, Leslie A LA; Sabatine, Marc S MS; Trip, Mieke M; Saleheen, Danish D; Peden, John F JF; Cruickshanks, Karen J KJ; März, Winfried W; O'Connell, Jeffrey R JR; Klungel, Olaf H OH; Wijmenga, Cisca C; Maitland-van der Zee, Anke Hilse AH; Schadt, Eric E EE; Johnson, Julie A JA; Jarvik, Gail P GP; Papanicolaou, George J GJ; , ; Grant, Struan F A SF; Munroe, Patricia B PB; North, Kari E KE; Samani, Nilesh J NJ; Koenig, Wolfgang W; Gaunt, Tom R TR; Anand, Sonia S SS; van der Schouw, Yvonne T YT; , ; Soranzo, Nicole N; Fitzgerald, Garret A GA; Reiner, Alex A; Hegele, Robert A RA; Hakonarson, Hakon H; Keating, Brendan J BJ
Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene.
American Journal Of Human Genetics
Frosk, Patrick P; Weiler, Tracey T; Nylen, Edward E; Sudha, Thangirala T; Greenberg, Cheryl R CR; Morgan, Kenneth K; Fujiwara, T Mary TM; Wrogemann, Klaus K