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
FinnGen provides genetic insights from a well-phenotyped isolated population.
Nature
Kurki, Mitja I MI; Karjalainen, Juha J; Palta, Priit P; Sipilä, Timo P TP; Kristiansson, Kati K; Donner, Kati M KM; Reeve, Mary P MP; Laivuori, Hannele H; Aavikko, Mervi M; Kaunisto, Mari A MA; Loukola, Anu A; Lahtela, Elisa E; Mattsson, Hannele H; Laiho, Päivi P; Della Briotta Parolo, Pietro P; Lehisto, Arto A AA; Kanai, Masahiro M; Mars, Nina N; Rämö, Joel J; Kiiskinen, Tuomo T; Heyne, Henrike O HO; Veerapen, Kumar K; Rüeger, Sina S; Lemmelä, Susanna S; Zhou, Wei W; Ruotsalainen, Sanni S; Pärn, Kalle K; Hiekkalinna, Tero T; Koskelainen, Sami S; Paajanen, Teemu T; Llorens, Vincent V; Gracia-Tabuenca, Javier J; Siirtola, Harri H; Reis, Kadri K; Elnahas, Abdelrahman G AG; Sun, Benjamin B; Foley, Christopher N CN; Aalto-Setälä, Katriina K; Alasoo, Kaur K; Arvas, Mikko M; Auro, Kirsi K; Biswas, Shameek S; Bizaki-Vallaskangas, Argyro A; Carpen, Olli O; Chen, Chia-Yen CY; Dada, Oluwaseun A OA; Ding, Zhihao Z; Ehm, Margaret G MG; Eklund, Kari K; Färkkilä, Martti M; Finucane, Hilary H; Ganna, Andrea A; Ghazal, Awaisa A; Graham, Robert R RR; Green, Eric M EM; Hakanen, Antti A; Hautalahti, Marco M; Hedman, Åsa K ÅK; Hiltunen, Mikko M; Hinttala, Reetta R; Hovatta, Iiris I; Hu, Xinli X; Huertas-Vazquez, Adriana A; Huilaja, Laura L; Hunkapiller, Julie J; Jacob, Howard H; Jensen, Jan-Nygaard JN; Joensuu, Heikki H; John, Sally S; Julkunen, Valtteri V; Jung, Marc M; Junttila, Juhani J; Kaarniranta, Kai K; Kähönen, Mika M; Kajanne, Risto R; Kallio, Lila L; Kälviäinen, Reetta R; Kaprio, Jaakko J; , ; Kerimov, Nurlan N; Kettunen, Johannes J; Kilpeläinen, Elina E; Kilpi, Terhi T; Klinger, Katherine K; Kosma, Veli-Matti VM; Kuopio, Teijo T; Kurra, Venla V; Laisk, Triin T; Laukkanen, Jari J; Lawless, Nathan N; Liu, Aoxing A; Longerich, Simonne S; Mägi, Reedik R; Mäkelä, Johanna J; Mäkitie, Antti A; Malarstig, Anders A; Mannermaa, Arto A; Maranville, Joseph J; Matakidou, Athena A; Meretoja, Tuomo T; Mozaffari, Sahar V SV; Niemi, Mari E K MEK; Niemi, Marianna M; Niiranen, Teemu T; O Donnell, Christopher J CJ; Obeidat, Ma En ME; Okafo, George G; Ollila, Hanna M HM; Palomäki, Antti A; Palotie, Tuula T; Partanen, Jukka J; Paul, Dirk S DS; Pelkonen, Margit M; Pendergrass, Rion K RK; Petrovski, Slavé S; Pitkäranta, Anne A; Platt, Adam A; Pulford, David D; Punkka, Eero E; Pussinen, Pirkko P; Raghavan, Neha N; Rahimov, Fedik F; Rajpal, Deepak D; Renaud, Nicole A NA; Riley-Gillis, Bridget B; Rodosthenous, Rodosthenis R; Saarentaus, Elmo E; Salminen, Aino A; Salminen, Eveliina E; Salomaa, Veikko V; Schleutker, Johanna J; Serpi, Raisa R; Shen, Huei-Yi HY; Siegel, Richard R; Silander, Kaisa K; Siltanen, Sanna S; Soini, Sirpa S; Soininen, Hilkka H; Sul, Jae Hoon JH; Tachmazidou, Ioanna I; Tasanen, Kaisa K; Tienari, Pentti P; Toppila-Salmi, Sanna S; Tukiainen, Taru T; Tuomi, Tiinamaija T; Turunen, Joni A JA; Ulirsch, Jacob C JC; Vaura, Felix F; Virolainen, Petri P; Waring, Jeffrey J; Waterworth, Dawn D; Yang, Robert R; Nelis, Mari M; Reigo, Anu A; Metspalu, Andres A; Milani, Lili L; Esko, Tõnu T; Fox, Caroline C; Havulinna, Aki S AS; Perola, Markus M; Ripatti, Samuli S; Jalanko, Anu A; Laitinen, Tarja T; Mäkelä, Tomi P TP; Plenge, Robert R; McCarthy, Mark M; Runz, Heiko H; Daly, Mark J MJ; Palotie, Aarno A
Publication Date: 2023-01
Variant appearance in text: GSDMB: Gly304Arg; rs2305479
Inflammatory and infectious upper respiratory diseases associate with 41 genomic loci and type 2 inflammation.
Nature Communications
Saarentaus, Elmo C EC; Karjalainen, Juha J; Rämö, Joel T JT; Kiiskinen, Tuomo T; Havulinna, Aki S AS; Mehtonen, Juha J; Hautakangas, Heidi H; Ruotsalainen, Sanni S; Tamlander, Max M; Mars, Nina N; , ; Toppila-Salmi, Sanna S; Pirinen, Matti M; Kurki, Mitja M; Ripatti, Samuli S; Daly, Mark M; Palotie, Tuula T; Mäkitie, Antti A; Palotie, Aarno A
JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.
Cancer Research
Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K
Publication Date: 2022-11-21
Variant appearance in text: GSDMB: 910G>A; G304R; rs2305479
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: GSDMB: 910G>A; Gly304Arg; rs2305479
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
Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways.
Nature Communications
Young, William J WJ; Lahrouchi, Najim N; Isaacs, Aaron A; Duong, ThuyVy T; Foco, Luisa L; Ahmed, Farah F; Brody, Jennifer A JA; Salman, Reem R; Noordam, Raymond R; Benjamins, Jan-Walter JW; Haessler, Jeffrey J; Lyytikäinen, Leo-Pekka LP; Repetto, Linda L; Concas, Maria Pina MP; van den Berg, Marten E ME; Weiss, Stefan S; Baldassari, Antoine R AR; Bartz, Traci M TM; Cook, James P JP; Evans, Daniel S DS; Freudling, Rebecca R; Hines, Oliver O; Isaksen, Jonas L JL; Lin, Honghuang H; Mei, Hao H; Moscati, Arden A; Müller-Nurasyid, Martina M; Nursyifa, Casia C; Qian, Yong Y; Richmond, Anne A; Roselli, Carolina C; Ryan, Kathleen A KA; Tarazona-Santos, Eduardo E; Thériault, Sébastien S; van Duijvenboden, Stefan S; Warren, Helen R HR; Yao, Jie J; Raza, Dania D; Aeschbacher, Stefanie S; Ahlberg, Gustav G; Alonso, Alvaro A; Andreasen, Laura L; Bis, Joshua C JC; Boerwinkle, Eric E; Campbell, Archie A; Catamo, Eulalia E; Cocca, Massimiliano M; Cutler, Michael J MJ; Darbar, Dawood D; De Grandi, Alessandro A; De Luca, Antonio A; Ding, Jun J; Ellervik, Christina C; Ellinor, Patrick T PT; Felix, Stephan B SB; Froguel, Philippe P; Fuchsberger, Christian C; Gögele, Martin M; Graff, Claus C; Graff, Mariaelisa M; Guo, Xiuqing X; Hansen, Torben T; Heckbert, Susan R SR; Huang, Paul L PL; Huikuri, Heikki V HV; Hutri-Kähönen, Nina N; Ikram, M Arfan MA; Jackson, Rebecca D RD; Junttila, Juhani J; Kavousi, Maryam M; Kors, Jan A JA; Leal, Thiago P TP; Lemaitre, Rozenn N RN; Lin, Henry J HJ; Lind, Lars L; Linneberg, Allan A; Liu, Simin S; MacFarlane, Peter W PW; Mangino, Massimo M; Meitinger, Thomas T; Mezzavilla, Massimo M; Mishra, Pashupati P PP; Mitchell, Rebecca N RN; Mononen, Nina N; Montasser, May E ME; Morrison, Alanna C AC; Nauck, Matthias M; Nauffal, Victor V; Navarro, Pau P; Nikus, Kjell K; Pare, Guillaume G; Patton, Kristen K KK; Pelliccione, Giulia G; Pittman, Alan A; Porteous, David J DJ; Pramstaller, Peter P PP; Preuss, Michael H MH; Raitakari, Olli T OT; Reiner, Alexander P AP; Ribeiro, Antonio Luiz P ALP; Rice, Kenneth M KM; Risch, Lorenz L; Schlessinger, David D; Schotten, Ulrich U; Schurmann, Claudia C; Shen, Xia X; Shoemaker, M Benjamin MB; Sinagra, Gianfranco G; Sinner, Moritz F MF; Soliman, Elsayed Z EZ; Stoll, Monika M; Strauch, Konstantin K; Tarasov, Kirill K; Taylor, Kent D KD; Tinker, Andrew A; Trompet, Stella S; Uitterlinden, André A; Völker, Uwe U; Völzke, Henry H; Waldenberger, Melanie M; Weng, Lu-Chen LC; Whitsel, Eric A EA; Wilson, James G JG; Avery, Christy L CL; Conen, David D; Correa, Adolfo A; Cucca, Francesco F; Dörr, Marcus M; Gharib, Sina A SA; Girotto, Giorgia G; Grarup, Niels N; Hayward, Caroline C; Jamshidi, Yalda Y; Järvelin, Marjo-Riitta MR; Jukema, J Wouter JW; Kääb, Stefan S; Kähönen, Mika M; Kanters, Jørgen K JK; Kooperberg, Charles C; Lehtimäki, Terho T; Lima-Costa, Maria Fernanda MF; Liu, Yongmei Y; Loos, Ruth J F RJF; Lubitz, Steven A SA; Mook-Kanamori, Dennis O DO; Morris, Andrew P AP; O'Connell, Jeffrey R JR; Olesen, Morten Salling MS; Orini, Michele M; Padmanabhan, Sandosh S; Pattaro, Cristian C; Peters, Annette A; Psaty, Bruce M BM; Rotter, Jerome I JI; Stricker, Bruno B; van der Harst, Pim P; van Duijn, Cornelia M CM; Verweij, Niek N; Wilson, James F JF; Arking, Dan E DE; Ramirez, Julia J; Lambiase, Pier D PD; Sotoodehnia, Nona N; Mifsud, Borbala B; Newton-Cheh, Christopher C; Munroe, Patricia B PB
Publication Date: 2022-09-01
Variant appearance in text: GSDMB: 910G>A; Gly304Arg; rs2305479
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
Identification of Genomic Variants Associated with the Risk of Acute Lymphoblastic Leukemia in Native Americans from Brazilian Amazonia.
Journal Of Personalized Medicine
Leitão, Luciana P C LPC; de Carvalho, Darlen C DC; Rodrigues, Juliana C G JCG; Fernandes, Marianne R MR; Wanderley, Alayde V AV; Vinagre, Lui W M S LWMS; da Silva, Natasha M NM; Pastana, Lucas F LF; Gellen, Laura P A LPA; Assunção, Matheus C E MCE; Fernandes, Sweny S M SSM; Pereira, Esdras E B EEB; Ribeiro-Dos-Santos, André M AM; Guerreiro, João F JF; Ribeiro-Dos-Santos, Ândrea Â; de Assumpção, Paulo P PP; Dos Santos, Sidney E B SEB; Dos Santos, Ney P C NPC
Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.
Nature Genetics
Robertson, Catherine C CC; Inshaw, Jamie R J JRJ; Onengut-Gumuscu, Suna S; Chen, Wei-Min WM; Santa Cruz, David Flores DF; Yang, Hanzhi H; Cutler, Antony J AJ; Crouch, Daniel J M DJM; Farber, Emily E; Bridges, S Louis SL; Edberg, Jeffrey C JC; Kimberly, Robert P RP; Buckner, Jane H JH; Deloukas, Panos P; Divers, Jasmin J; Dabelea, Dana D; Lawrence, Jean M JM; Marcovina, Santica S; Shah, Amy S AS; Greenbaum, Carla J CJ; Atkinson, Mark A MA; Gregersen, Peter K PK; Oksenberg, Jorge R JR; Pociot, Flemming F; Rewers, Marian J MJ; Steck, Andrea K AK; Dunger, David B DB; , ; Wicker, Linda S LS; Concannon, Patrick P; Todd, John A JA; Rich, Stephen S SS
Publication Date: 2021-07
Variant appearance in text: GSDMB: G304R; rs2305479
Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.
Nature Genetics
Robertson, Catherine C CC; Inshaw, Jamie R J JRJ; Onengut-Gumuscu, Suna S; Chen, Wei-Min WM; Santa Cruz, David Flores DF; Yang, Hanzhi H; Cutler, Antony J AJ; Crouch, Daniel J M DJM; Farber, Emily E; Bridges, S Louis SL; Edberg, Jeffrey C JC; Kimberly, Robert P RP; Buckner, Jane H JH; Deloukas, Panos P; Divers, Jasmin J; Dabelea, Dana D; Lawrence, Jean M JM; Marcovina, Santica S; Shah, Amy S AS; Greenbaum, Carla J CJ; Atkinson, Mark A MA; Gregersen, Peter K PK; Oksenberg, Jorge R JR; Pociot, Flemming F; Rewers, Marian J MJ; Steck, Andrea K AK; Dunger, David B DB; , ; Wicker, Linda S LS; Concannon, Patrick P; Todd, John A JA; Rich, Stephen S SS
Publication Date: 2021-07
Variant appearance in text: GSDMB: G304R; rs2305479
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: GSDMB: 910G>A; G304R; rs2305479
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: GSDMB: 910G>A; rs2305479
High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.
Ebiomedicine
Toulmonde, Maud M; Lucchesi, Carlo C; Verbeke, Stéphanie S; Crombe, Amandine A; Adam, Julien J; Geneste, Damien D; Chaire, Vanessa V; Laroche-Clary, Audrey A; Perret, Raul R; Bertucci, François F; Bertolo, Frederic F; Bianchini, Laurence L; Dadone-Montaudie, Bérengère B; Hembrough, Todd T; Sweet, Steve S; Kim, Yeoun Jin YJ; Cecchi, Fabiola F; Le Loarer, François F; Italiano, Antoine A
Publication Date: 2020-12
Variant appearance in text: GSDMB: 910G>A; G304R; rs2305479
Mapping the 17q12-21.1 Locus for Variants Associated with Early-Onset Asthma in African Americans.
American Journal Of Respiratory And Critical Care Medicine
Gui, Hongsheng H; Levin, Albert M AM; Hu, Donglei D; Sleiman, Patrick P; Xiao, Shujie S; Mak, Angel C Y ACY; Yang, Mao M; Barczak, Andrea J AJ; Huntsman, Scott S; Eng, Celeste C; Hochstadt, Samantha S; Zhang, Ellen E; Whitehouse, Kyle K; Simons, Samantha S; Cabral, Whitney W; Takriti, Sami S; Abecasis, Gonçalo G; Blackwell, Thomas W TW; Kang, Hyun Min HM; Nickerson, Deborah A DA; Germer, Soren S; Lanfear, David E DE; Gilliland, Frank F; Gauderman, W James WJ; Kumar, Rajesh R; Erle, David J DJ; Martinez, Fernando D FD; Hakonarson, Hakon H; Burchard, Esteban G EG; Williams, L Keoki LK
Age-of-onset information helps identify 76 genetic variants associated with allergic disease.
Plos Genetics
Ferreira, Manuel A R MAR; Vonk, Judith M JM; Baurecht, Hansjörg H; Marenholz, Ingo I; Tian, Chao C; Hoffman, Joshua D JD; Helmer, Quinta Q; Tillander, Annika A; Ullemar, Vilhelmina V; Lu, Yi Y; Grosche, Sarah S; Rüschendorf, Franz F; Granell, Raquel R; Brumpton, Ben M BM; Fritsche, Lars G LG; Bhatta, Laxmi L; Gabrielsen, Maiken E ME; Nielsen, Jonas B JB; Zhou, Wei W; Hveem, Kristian K; Langhammer, Arnulf A; Holmen, Oddgeir L OL; Løset, Mari M; Abecasis, Gonçalo R GR; Willer, Cristen J CJ; Emami, Nima C NC; Cavazos, Taylor B TB; Witte, John S JS; Szwajda, Agnieszka A; , ; , ; Hinds, David A DA; Hübner, Norbert N; Weidinger, Stephan S; Magnusson, Patrik Ke PK; Jorgenson, Eric E; Karlsson, Robert R; Paternoster, Lavinia L; Boomsma, Dorret I DI; Almqvist, Catarina C; Lee, Young-Ae YA; Koppelman, Gerard H GH
Publication Date: 2020-06
Variant appearance in text: GSDMB: G304R; rs2305479
Influence of Second-Hand Smoke and Prenatal Tobacco Smoke Exposure on Biomarkers, Genetics and Physiological Processes in Children-An Overview in Research Insights of the Last Few Years.
International Journal Of Environmental Research And Public Health
Braun, Markus M; Klingelhöfer, Doris D; Oremek, Gerhard M GM; Quarcoo, David D; Groneberg, David A DA
Transcript specific regulation of expression influences susceptibility to multiple sclerosis.
European Journal Of Human Genetics : Ejhg
Ban, Maria M; Liao, Wenjia W; Baker, Amie A; Compston, Alastair A; Thorpe, John J; Molyneux, Paul P; Fraser, Mary M; Khadake, Jyoti J; Jones, Joanne J; Coles, Alasdair A; Sawcer, Stephen S
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: GSDMB: G304R; rs2305479
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
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: GSDMB: G304R; rs2305479
A functional splice variant associated with decreased asthma risk abolishes the ability of gasdermin B to induce epithelial cell pyroptosis.
The Journal Of Allergy And Clinical Immunology
Panganiban, Ronald A RA; Sun, Maoyun M; Dahlin, Amber A; Park, Hae-Ryung HR; Kan, Mengyuan M; Himes, Blanca E BE; Mitchel, Jennifer A JA; Iribarren, Carlos C; Jorgenson, Eric E; Randell, Scott H SH; Israel, Elliot E; Tantisira, Kelan K; Shore, Stephanie S; Park, Jin-Ah JA; Weiss, Scott T ST; Wu, Ann Chen AC; Lu, Quan Q
Publication Date: 2018-11
Variant appearance in text: GSDMB: G304R; rs2305479
Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks.
Nature Genetics
Demenais, Florence F; Margaritte-Jeannin, Patricia P; Barnes, Kathleen C KC; Cookson, William O C WOC; Altmüller, Janine J; Ang, Wei W; Barr, R Graham RG; Beaty, Terri H TH; Becker, Allan B AB; Beilby, John J; Bisgaard, Hans H; Bjornsdottir, Unnur Steina US; Bleecker, Eugene E; Bønnelykke, Klaus K; Boomsma, Dorret I DI; Bouzigon, Emmanuelle E; Brightling, Christopher E CE; Brossard, Myriam M; Brusselle, Guy G GG; Burchard, Esteban E; Burkart, Kristin M KM; Bush, Andrew A; Chan-Yeung, Moira M; Chung, Kian Fan KF; Couto Alves, Alexessander A; Curtin, John A JA; Custovic, Adnan A; Daley, Denise D; de Jongste, Johan C JC; Del-Rio-Navarro, Blanca E BE; Donohue, Kathleen M KM; Duijts, Liesbeth L; Eng, Celeste C; Eriksson, Johan G JG; Farrall, Martin M; Fedorova, Yuliya Y; Feenstra, Bjarke B; Ferreira, Manuel A MA; , ; Freidin, Maxim B MB; Gajdos, Zofia Z; Gauderman, Jim J; Gehring, Ulrike U; Geller, Frank F; Genuneit, Jon J; Gharib, Sina A SA; Gilliland, Frank F; Granell, Raquel R; Graves, Penelope E PE; Gudbjartsson, Daniel F DF; Haahtela, Tari T; Heckbert, Susan R SR; Heederik, Dick D; Heinrich, Joachim J; Heliövaara, Markku M; Henderson, John J; Himes, Blanca E BE; Hirose, Hiroshi H; Hirschhorn, Joel N JN; Hofman, Albert A; Holt, Patrick P; Hottenga, Jouke J; Hudson, Thomas J TJ; Hui, Jennie J; Imboden, Medea M; Ivanov, Vladimir V; Jaddoe, Vincent W V VWV; James, Alan A; Janson, Christer C; Jarvelin, Marjo-Riitta MR; Jarvis, Deborah D; Jones, Graham G; Jonsdottir, Ingileif I; Jousilahti, Pekka P; Kabesch, Michael M; Kähönen, Mika M; Kantor, David B DB; Karunas, Alexandra S AS; Khusnutdinova, Elza E; Koppelman, Gerard H GH; Kozyrskyj, Anita L AL; Kreiner, Eskil E; Kubo, Michiaki M; Kumar, Rajesh R; Kumar, Ashish A; Kuokkanen, Mikko M; Lahousse, Lies L; Laitinen, Tarja T; Laprise, Catherine C; Lathrop, Mark M; Lau, Susanne S; Lee, Young-Ae YA; Lehtimäki, Terho T; Letort, Sébastien S; Levin, Albert M AM; Li, Guo G; Liang, Liming L; Loehr, Laura R LR; London, Stephanie J SJ; Loth, Daan W DW; Manichaikul, Ani A; Marenholz, Ingo I; Martinez, Fernando J FJ; Matheson, Melanie C MC; Mathias, Rasika A RA; Matsumoto, Kenji K; Mbarek, Hamdi H; McArdle, Wendy L WL; Melbye, Mads M; Melén, Erik E; Meyers, Deborah D; Michel, Sven S; Mohamdi, Hamida H; Musk, Arthur W AW; Myers, Rachel A RA; Nieuwenhuis, Maartje A E MAE; Noguchi, Emiko E; O'Connor, George T GT; Ogorodova, Ludmila M LM; Palmer, Cameron D CD; Palotie, Aarno A; Park, Julie E JE; Pennell, Craig E CE; Pershagen, Göran G; Polonikov, Alexey A; Postma, Dirkje S DS; Probst-Hensch, Nicole N; Puzyrev, Valery P VP; Raby, Benjamin A BA; Raitakari, Olli T OT; Ramasamy, Adaikalavan A; Rich, Stephen S SS; Robertson, Colin F CF; Romieu, Isabelle I; Salam, Muhammad T MT; Salomaa, Veikko V; Schlünssen, Vivi V; Scott, Robert R; Selivanova, Polina A PA; Sigsgaard, Torben T; Simpson, Angela A; Siroux, Valérie V; Smith, Lewis J LJ; Solodilova, Maria M; Standl, Marie M; Stefansson, Kari K; Strachan, David P DP; Stricker, Bruno H BH; Takahashi, Atsushi A; Thompson, Philip J PJ; Thorleifsson, Gudmar G; Thorsteinsdottir, Unnur U; Tiesler, Carla M T CMT; Torgerson, Dara G DG; Tsunoda, Tatsuhiko T; Uitterlinden, André G AG; van der Valk, Ralf J P RJP; Vaysse, Amaury A; Vedantam, Sailaja S; von Berg, Andrea A; von Mutius, Erika E; Vonk, Judith M JM; Waage, Johannes J; Wareham, Nick J NJ; Weiss, Scott T ST; White, Wendy B WB; Wickman, Magnus M; Widén, Elisabeth E; Willemsen, Gonneke G; Williams, L Keoki LK; Wouters, Inge M IM; Yang, James J JJ; Zhao, Jing Hua JH; Moffatt, Miriam F MF; Ober, Carole C; Nicolae, Dan L DL
Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.
Nature Genetics
Ferreira, Manuel A MA; Vonk, Judith M JM; Baurecht, Hansjörg H; Marenholz, Ingo I; Tian, Chao C; Hoffman, Joshua D JD; Helmer, Quinta Q; Tillander, Annika A; Ullemar, Vilhelmina V; van Dongen, Jenny J; Lu, Yi Y; Rüschendorf, Franz F; Esparza-Gordillo, Jorge J; Medway, Chris W CW; Mountjoy, Edward E; Burrows, Kimberley K; Hummel, Oliver O; Grosche, Sarah S; Brumpton, Ben M BM; Witte, John S JS; Hottenga, Jouke-Jan JJ; Willemsen, Gonneke G; Zheng, Jie J; Rodríguez, Elke E; Hotze, Melanie M; Franke, Andre A; Revez, Joana A JA; Beesley, Jonathan J; Matheson, Melanie C MC; Dharmage, Shyamali C SC; Bain, Lisa M LM; Fritsche, Lars G LG; Gabrielsen, Maiken E ME; Balliu, Brunilda B; , ; , ; , ; , ; Nielsen, Jonas B JB; Zhou, Wei W; Hveem, Kristian K; Langhammer, Arnulf A; Holmen, Oddgeir L OL; Løset, Mari M; Abecasis, Gonçalo R GR; Willer, Cristen J CJ; Arnold, Andreas A; Homuth, Georg G; Schmidt, Carsten O CO; Thompson, Philip J PJ; Martin, Nicholas G NG; Duffy, David L DL; Novak, Natalija N; Schulz, Holger H; Karrasch, Stefan S; Gieger, Christian C; Strauch, Konstantin K; Melles, Ronald B RB; Hinds, David A DA; Hübner, Norbert N; Weidinger, Stephan S; Magnusson, Patrik K E PKE; Jansen, Rick R; Jorgenson, Eric E; Lee, Young-Ae YA; Boomsma, Dorret I DI; Almqvist, Catarina C; Karlsson, Robert R; Koppelman, Gerard H GH; Paternoster, Lavinia L
Publication Date: 2017-12
Variant appearance in text: GSDMB: G304R; rs2305479
Target highlights from the first post-PSI CASP experiment (CASP12, May-August 2016).
Proteins
Kryshtafovych, Andriy A; Albrecht, Reinhard R; Baslé, Arnaud A; Bule, Pedro P; Caputo, Alessandro T AT; Carvalho, Ana Luisa AL; Chao, Kinlin L KL; Diskin, Ron R; Fidelis, Krzysztof K; Fontes, Carlos M G A CMGA; Fredslund, Folmer F; Gilbert, Harry J HJ; Goulding, Celia W CW; Hartmann, Marcus D MD; Hayes, Christopher S CS; Herzberg, Osnat O; Hill, Johan C JC; Joachimiak, Andrzej A; Kohring, Gert-Wieland GW; Koning, Roman I RI; Lo Leggio, Leila L; Mangiagalli, Marco M; Michalska, Karolina K; Moult, John J; Najmudin, Shabir S; Nardini, Marco M; Nardone, Valentina V; Ndeh, Didier D; Nguyen, Thanh-Hong TH; Pintacuda, Guido G; Postel, Sandra S; van Raaij, Mark J MJ; Roversi, Pietro P; Shimon, Amir A; Singh, Abhimanyu K AK; Sundberg, Eric J EJ; Tars, Kaspars K; Zitzmann, Nicole N; Schwede, Torsten T
Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits.
Genome Medicine
Grassmann, Felix F; Kiel, Christina C; Zimmermann, Martina E ME; Gorski, Mathias M; Grassmann, Veronika V; Stark, Klaus K; , ; Heid, Iris M IM; Weber, Bernhard H F BH
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: GSDMB: G304R; rs2305479
Allele-specific transcription factor binding to common and rare variants associated with disease and gene expression.
Human Genetics
Cavalli, Marco M; Pan, Gang G; Nord, Helena H; Wallerman, Ola O; Wallén Arzt, Emelie E; Berggren, Olof O; Elvers, Ingegerd I; Eloranta, Maija-Leena ML; Rönnblom, Lars L; Lindblad Toh, Kerstin K; Wadelius, Claes C
Dense genotyping of immune-related loci in idiopathic inflammatory myopathies confirms HLA alleles as the strongest genetic risk factor and suggests different genetic background for major clinical subgroups.
Annals Of The Rheumatic Diseases
Rothwell, Simon S; Cooper, Robert G RG; Lundberg, Ingrid E IE; Miller, Frederick W FW; Gregersen, Peter K PK; Bowes, John J; Vencovsky, Jiri J; Danko, Katalin K; Limaye, Vidya V; Selva-O'Callaghan, Albert A; Hanna, Michael G MG; Machado, Pedro M PM; Pachman, Lauren M LM; Reed, Ann M AM; Rider, Lisa G LG; Cobb, Joanna J; Platt, Hazel H; Molberg, Øyvind Ø; Benveniste, Olivier O; Mathiesen, Pernille P; Radstake, Timothy T; Doria, Andrea A; De Bleecker, Jan J; De Paepe, Boel B; Maurer, Britta B; Ollier, William E WE; Padyukov, Leonid L; O'Hanlon, Terrance P TP; Lee, Annette A; Amos, Christopher I CI; Gieger, Christian C; Meitinger, Thomas T; Winkelmann, Juliane J; Wedderburn, Lucy R LR; Chinoy, Hector H; Lamb, Janine A JA; ,
Ethnic-specific associations of rare and low-frequency DNA sequence variants with asthma.
Nature Communications
Igartua, Catherine C; Myers, Rachel A RA; Mathias, Rasika A RA; Pino-Yanes, Maria M; Eng, Celeste C; Graves, Penelope E PE; Levin, Albert M AM; Del-Rio-Navarro, Blanca E BE; Jackson, Daniel J DJ; Livne, Oren E OE; Rafaels, Nicholas N; Edlund, Christopher K CK; Yang, James J JJ; Huntsman, Scott S; Salam, Muhammad T MT; Romieu, Isabelle I; Mourad, Raphael R; Gern, James E JE; Lemanske, Robert F RF; Wyss, Annah A; Hoppin, Jane A JA; Barnes, Kathleen C KC; Burchard, Esteban G EG; Gauderman, W James WJ; Martinez, Fernando D FD; Raby, Benjamin A BA; Weiss, Scott T ST; Williams, L Keoki LK; London, Stephanie J SJ; Gilliland, Frank D FD; Nicolae, Dan L DL; Ober, Carole C