Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: JAK3: 1715C>T; Ala572Val
Clonal hematopoiesis is not significantly associated with COVID-19 disease severity.
Blood
Zhou, Yifan Y; Shalhoub, Ruba R; Rogers, Stephanie N SN; Yu, Shiqin S; Gu, Muxin M; Fabre, Margarete A MA; Quiros, Pedro M PM; Shin, Tae-Hoon TH; Diangson, Arch A; Deng, Wenhan W; Anand, Shubha S; Lu, Wenhua W; Cullen, Matthew M; Godfrey, Anna L AL; Preller, Jacobus J; Hadjadj, Jerome J; Jouanguy, Emmanuelle E; Cobat, Aurélie A; Abel, Laurent L; Rieux-Laucat, Frederic F; Terrier, Benjamin B; Fischer, Alain A; Novik, Lara L; Gordon, Ingelise J IJ; Strom, Larisa L; Gaudinski, Martin R MR; Lisco, Andrea A; Sereti, Irini I; Gniadek, Thomas J TJ; Biondi, Andrea A; Bonfanti, Paolo P; Imberti, Luisa L; Dalgard, Clifton L CL; Zhang, Yu Y; Dobbs, Kerry K; Su, Helen C HC; Notarangelo, Luigi D LD; Wu, Colin O CO; Openshaw, Peter J M PJM; Semple, Malcolm G MG; Mallat, Ziad Z; Baillie, Kenneth K; Dunbar, Cynthia E CE; Vassiliou, George S GS
Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.
Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Janus Kinase Mutations in Mice Lacking PU.1 and Spi-B Drive B Cell Leukemia through Reactive Oxygen Species-Induced DNA Damage.
Molecular And Cellular Biology
Lim, Michelle M; Batista, Carolina R CR; de Oliveira, Bruno R BR; Creighton, Rachel R; Ferguson, Jacob J; Clemmer, Kurt K; Knight, Devon D; Iansavitchous, James J; Mahmood, Danish D; Avino, Mariano M; DeKoter, Rodney P RP
Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.
Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Development and validation of a targeted gene sequencing panel for application to disparate cancers.
Scientific Reports
McCabe, Mark J MJ; Gauthier, Marie-Emilie A MA; Chan, Chia-Ling CL; Thompson, Tanya J TJ; De Sousa, Sunita M C SMC; Puttick, Clare C; Grady, John P JP; Gayevskiy, Velimir V; Tao, Jiang J; Ying, Kevin K; Cipponi, Arcadi A; Deng, Niantao N; Swarbrick, Alex A; Thomas, Melissa L ML; Lord, Reginald V RV; Johns, Amber L AL; Kohonen-Corish, Maija M; O'Toole, Sandra A SA; Clark, Jonathan J; Mueller, Simon A SA; Gupta, Ruta R; McCormack, Ann I AI; Dinger, Marcel E ME; Cowley, Mark J MJ; ,
The LL-100 panel: 100 cell lines for blood cancer studies.
Scientific Reports
Quentmeier, Hilmar H; Pommerenke, Claudia C; Dirks, Wilhelm G WG; Eberth, Sonja S; Koeppel, Max M; MacLeod, Roderick A F RAF; Nagel, Stefan S; Steube, Klaus K; Uphoff, Cord C CC; Drexler, Hans G HG
Integrative omics analyses broaden treatment targets in human cancer.
Genome Medicine
Sengupta, Sohini S; Sun, Sam Q SQ; Huang, Kuan-Lin KL; Oh, Clara C; Bailey, Matthew H MH; Varghese, Rajees R; Wyczalkowski, Matthew A MA; Ning, Jie J; Tripathi, Piyush P; McMichael, Joshua F JF; Johnson, Kimberly J KJ; Kandoth, Cyriac C; Welch, John J; Ma, Cynthia C; Wendl, Michael C MC; Payne, Samuel H SH; Fenyö, David D; Townsend, Reid R RR; Dipersio, John F JF; Chen, Feng F; Ding, Li L
Partial trisomy 21 contributes to T-cell malignancies induced by JAK3-activating mutations in murine models.
Blood Advances
Rivera-Munoz, Paola P; Laurent, Anouchka P AP; Siret, Aurelie A; Lopez, Cecile K CK; Ignacimouttou, Cathy C; Cornejo, Melanie G MG; Bawa, Olivia O; Rameau, Philippe P; Bernard, Olivier A OA; Dessen, Philippe P; Gilliland, Gary D GD; Mercher, Thomas T; Malinge, Sébastien S
Clinical and molecular characteristics of unicentric mediastinal Castleman disease.
Journal Of Thoracic Disease
Legras, Antoine A; Tallet, Anne A; Didelot, Audrey A; Cazes, Aurélie A; Danel, Claire C; Hin, Angela A; Borie, Raphaël R; Crestani, Bruno B; Castier, Yves Y; Bagan, Patrick P; Le Pimpec-Barthes, Françoise F; Riquet, Marc M; Blons, Hélène H; Mordant, Pierre P
Oncogenic activation of JAK3-STAT signaling confers clinical sensitivity to PRN371, a novel selective and potent JAK3 inhibitor, in natural killer/T-cell lymphoma.
Leukemia
Nairismägi, M -L M-; Gerritsen, M E ME; Li, Z M ZM; Wijaya, G C GC; Chia, B K H BKH; Laurensia, Y Y; Lim, J Q JQ; Yeoh, K W KW; Yao, X S XS; Pang, W L WL; Bisconte, A A; Hill, R J RJ; Bradshaw, J M JM; Huang, D D; Song, T L L TLL; Ng, C C Y CCY; Rajasegaran, V V; Tang, T T; Tang, Q Q QQ; Xia, X J XJ; Kang, T B TB; Teh, B T BT; Lim, S T ST; Ong, C K CK; Tan, J J
An Activating Janus Kinase-3 Mutation Is Associated with Cytotoxic T Lymphocyte Antigen-4-Dependent Immune Dysregulation Syndrome.
Frontiers In Immunology
Sic, Heiko H; Speletas, Matthaios M; Cornacchione, Vanessa V; Seidl, Maximillian M; Beibel, Martin M; Linghu, Bolan B; Yang, Fan F; Sevdali, Eirini E; Germenis, Anastasios E AE; Oakeley, Edward J EJ; Vangrevelinghe, Eric E; Sailer, Andreas W AW; Traggiai, Elisabetta E; Gram, Hermann H; Eibel, Hermann H
Mutant JAK3 signaling is increased by loss of wild-type JAK3 or by acquisition of secondary JAK3 mutations in T-ALL.
Blood
Degryse, Sandrine S; Bornschein, Simon S; de Bock, Charles E CE; Leroy, Emilie E; Vanden Bempt, Marlies M; Demeyer, Sofie S; Jacobs, Kris K; Geerdens, Ellen E; Gielen, Olga O; Soulier, Jean J; Harrison, Christine J CJ; Constantinescu, Stefan N SN; Cools, Jan J
Performance comparison of two commercial human whole-exome capture systems on formalin-fixed paraffin-embedded lung adenocarcinoma samples.
Bmc Cancer
Bonfiglio, Silvia S; Vanni, Irene I; Rossella, Valeria V; Truini, Anna A; Lazarevic, Dejan D; Dal Bello, Maria Giovanna MG; Alama, Angela A; Mora, Marco M; Rijavec, Erika E; Genova, Carlo C; Cittaro, Davide D; Grossi, Francesco F; Coco, Simona S
JAK-STAT signaling in cancer: From cytokines to non-coding genome.
Cytokine
Pencik, Jan J; Pham, Ha Thi Thanh HT; Schmoellerl, Johannes J; Javaheri, Tahereh T; Schlederer, Michaela M; Culig, Zoran Z; Merkel, Olaf O; Moriggl, Richard R; Grebien, Florian F; Kenner, Lukas L
PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.
Plos Computational Biology
Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J
Concurrent Mutations in ATM and Genes Associated with Common γ Chain Signaling in Peripheral T Cell Lymphoma.
Plos One
Simpson, Haley M HM; Khan, Rashid Z RZ; Song, Chang C; Sharma, Deva D; Sadashivaiah, Kavitha K; Furusawa, Aki A; Liu, Xinyue X; Nagaraj, Sushma S; Sengamalay, Naomi N; Sadzewicz, Lisa L; Tallon, Luke J LJ; Chen, Qing C QC; Livak, Ferenc F; Rapoport, Aaron P AP; Kimball, Amy A; Banerjee, Arnob A
Mutational profiling of brain metastasis from breast cancer: matched pair analysis of targeted sequencing between brain metastasis and primary breast cancer.
Oncotarget
Lee, Ji Yun JY; Park, Kyunghee K; Lim, Sung Hee SH; Kim, Hae Su HS; Yoo, Kwai Han KH; Jung, Ki Sun KS; Song, Haa-Na HN; Hong, Mineui M; Do, In-Gu IG; Ahn, TaeJin T; Lee, Se Kyung SK; Bae, Soo Youn SY; Kim, Seok Won SW; Lee, Jeong Eon JE; Nam, Seok Jin SJ; Kim, Duk-Hwan DH; Jung, Hae Hyun HH; Kim, Ji-Yeon JY; Ahn, Jin Seok JS; Im, Young-Hyuck YH; Park, Yeon Hee YH
Distinct Acute Lymphoblastic Leukemia (ALL)-associated Janus Kinase 3 (JAK3) Mutants Exhibit Different Cytokine-Receptor Requirements and JAK Inhibitor Specificities.
The Journal Of Biological Chemistry
Losdyck, Elisabeth E; Hornakova, Tekla T; Springuel, Lorraine L; Degryse, Sandrine S; Gielen, Olga O; Cools, Jan J; Constantinescu, Stefan N SN; Flex, Elisabetta E; Tartaglia, Marco M; Renauld, Jean-Christophe JC; Knoops, Laurent L
Patient-derived cell models as preclinical tools for genome-directed targeted therapy.
Oncotarget
Lee, Ji Yun JY; Kim, Sun Young SY; Park, Charny C; Kim, Nayoung K D NK; Jang, Jiryeon J; Park, Kyunghee K; Yi, Jun Ho JH; Hong, Mineui M; Ahn, Taejin T; Rath, Oliver O; Schueler, Julia J; Kim, Seung Tae ST; Do, In-Gu IG; Lee, Sujin S; Park, Se Hoon SH; Ji, Yong Ick YI; Kim, Dukwhan D; Park, Joon Oh JO; Park, Young Suk YS; Kang, Won Ki WK; Kim, Kyoung-Mee KM; Park, Woong-Yang WY; Lim, Ho Yeong HY; Lee, Jeeyun J
Development of Selective Covalent Janus Kinase 3 Inhibitors.
Journal Of Medicinal Chemistry
Tan, Li L; Akahane, Koshi K; McNally, Randall R; Reyskens, Kathleen M S E KM; Ficarro, Scott B SB; Liu, Suhu S; Herter-Sprie, Grit S GS; Koyama, Shohei S; Pattison, Michael J MJ; Labella, Katherine K; Johannessen, Liv L; Akbay, Esra A EA; Wong, Kwok-Kin KK; Frank, David A DA; Marto, Jarrod A JA; Look, Thomas A TA; Arthur, J Simon C JS; Eck, Michael J MJ; Gray, Nathanael S NS
CHZ868, a Type II JAK2 Inhibitor, Reverses Type I JAK Inhibitor Persistence and Demonstrates Efficacy in Myeloproliferative Neoplasms.
Cancer Cell
Meyer, Sara C SC; Keller, Matthew D MD; Chiu, Sophia S; Koppikar, Priya P; Guryanova, Olga A OA; Rapaport, Franck F; Xu, Ke K; Manova, Katia K; Pankov, Dmitry D; O'Reilly, Richard J RJ; Kleppe, Maria M; McKenney, Anna Sophia AS; Shih, Alan H AH; Shank, Kaitlyn K; Ahn, Jihae J; Papalexi, Eftymia E; Spitzer, Barbara B; Socci, Nick N; Viale, Agnes A; Mandon, Emeline E; Ebel, Nicolas N; Andraos, Rita R; Rubert, Joëlle J; Dammassa, Ernesta E; Romanet, Vincent V; Dölemeyer, Arno A; Zender, Michael M; Heinlein, Melanie M; Rampal, Raajit R; Weinberg, Rona Singer RS; Hoffman, Ronald R; Sellers, William R WR; Hofmann, Francesco F; Murakami, Masato M; Baffert, Fabienne F; Gaul, Christoph C; Radimerski, Thomas T; Levine, Ross L RL
Whole-genome sequencing reveals oncogenic mutations in mycosis fungoides.
Blood
McGirt, Laura Y LY; Jia, Peilin P; Baerenwald, Devin A DA; Duszynski, Robert J RJ; Dahlman, Kimberly B KB; Zic, John A JA; Zwerner, Jeffrey P JP; Hucks, Donald D; Dave, Utpal U; Zhao, Zhongming Z; Eischen, Christine M CM
Molecular characterization of patients with pathologic complete response or early failure after neoadjuvant chemotherapy for locally advanced breast cancer using next generation sequencing and nCounter assay.
Oncotarget
Park, Kyunghee K; Choi, Moon Ki MK; Jung, Hae Hyun HH; Do, In-Gu IG; Lee, Kwang Hee KH; Ahn, TaeJin T; Kil, Won Ho WH; Kim, Seok Won SW; Lee, Jeong Eon JE; Nam, Seok Jin SJ; Kim, Duk-Hwan DH; Ahn, Jin Seok JS; Im, Young-Hyuck YH; Park, Yeon Hee YH
Genetic alterations of JAK/STAT cascade and histone modification in extranodal NK/T-cell lymphoma nasal type.
Oncotarget
Lee, Seungbok S; Park, Ha Young HY; Kang, So Young SY; Kim, Seok Jin SJ; Hwang, Jinha J; Lee, Seungho S; Kwak, Soo Heon SH; Park, Kyong Soo KS; Yoo, Hae Yong HY; Kim, Won Seog WS; Kim, Jong-Il JI; Ko, Young Hyeh YH
Activating mutations of STAT5B and STAT3 in lymphomas derived from γδ-T or NK cells.
Nature Communications
Küçük, Can C; Jiang, Bei B; Hu, Xiaozhou X; Zhang, Wenyan W; Chan, John K C JK; Xiao, Wenming W; Lack, Nathan N; Alkan, Can C; Williams, John C JC; Avery, Kendra N KN; Kavak, Pınar P; Scuto, Anna A; Sen, Emel E; Gaulard, Philippe P; Staudt, Lou L; Iqbal, Javeed J; Zhang, Weiwei W; Cornish, Adam A; Gong, Qiang Q; Yang, Qunpei Q; Sun, Hong H; d'Amore, Francesco F; Leppä, Sirpa S; Liu, Weiping W; Fu, Kai K; de Leval, Laurence L; McKeithan, Timothy T; Chan, Wing C WC
Intratumoral heterogeneity in a minority of ovarian low-grade serous carcinomas.
Bmc Cancer
Tone, Alicia A AA; McConechy, Melissa K MK; Yang, Winnie W; Ding, Jiarui J; Yip, Stephen S; Kong, Esther E; Wong, Kwong-Kwok KK; Gershenson, David M DM; Mackay, Helen H; Shah, Sohrab S; Gilks, Blake B; Tinker, Anna V AV; Clarke, Blaise B; McAlpine, Jessica N JN; Huntsman, David D
High-throughput sequencing and copy number variation detection using formalin fixed embedded tissue in metastatic gastric cancer.
Plos One
Kim, Seokhwi S; Lee, Jeeyun J; Hong, Min Eui ME; Do, In-Gu IG; Kang, So Young SY; Ha, Sang Yun SY; Kim, Seung Tae ST; Park, Se Hoon SH; Kang, Won Ki WK; Choi, Min-Gew MG; Lee, Jun Ho JH; Sohn, Tae Sung TS; Bae, Jae Moon JM; Kim, Sung S; Kim, Duk-Hwan DH; Kim, Kyoung-Mee KM
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
The Journal Of Molecular Diagnostics : Jmd
MacConaill, Laura E LE; Garcia, Elizabeth E; Shivdasani, Priyanka P; Ducar, Matthew M; Adusumilli, Ravali R; Breneiser, Marc M; Byrne, Mark M; Chung, Lawrence L; Conneely, Jodie J; Crosby, Lauren L; Garraway, Levi A LA; Gong, Xin X; Hahn, William C WC; Hatton, Charlie C; Kantoff, Philip W PW; Kluk, Michael M; Kuo, Frank F; Jia, Yonghui Y; Joshi, Ruchi R; Longtine, Janina J; Manning, Allison A; Palescandolo, Emanuele E; Sharaf, Nematullah N; Sholl, Lynette L; van Hummelen, Paul P; Wade, Jacqueline J; Wollinson, Bruce M BM; Zepf, Dimity D; Rollins, Barrett J BJ; Lindeman, Neal I NI
Functional RNAi screen targeting cytokine and growth factor receptors reveals oncorequisite role for interleukin-2 gamma receptor in JAK3-mutation-positive leukemia.
Oncogene
Agarwal, A A; MacKenzie, R J RJ; Eide, C A CA; Davare, M A MA; Watanabe-Smith, K K; Tognon, C E CE; Mongoue-Tchokote, S S; Park, B B; Braziel, R M RM; Tyner, J W JW; Druker, B J BJ
Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine.
Nature Medicine
Van Allen, Eliezer M EM; Wagle, Nikhil N; Stojanov, Petar P; Perrin, Danielle L DL; Cibulskis, Kristian K; Marlow, Sara S; Jane-Valbuena, Judit J; Friedrich, Dennis C DC; Kryukov, Gregory G; Carter, Scott L SL; McKenna, Aaron A; Sivachenko, Andrey A; Rosenberg, Mara M; Kiezun, Adam A; Voet, Douglas D; Lawrence, Michael M; Lichtenstein, Lee T LT; Gentry, Jeff G JG; Huang, Franklin W FW; Fostel, Jennifer J; Farlow, Deborah D; Barbie, David D; Gandhi, Leena L; Lander, Eric S ES; Gray, Stacy W SW; Joffe, Steven S; Janne, Pasi P; Garber, Judy J; MacConaill, Laura L; Lindeman, Neal N; Rollins, Barrett B; Kantoff, Philip P; Fisher, Sheila A SA; Gabriel, Stacey S; Getz, Gad G; Garraway, Levi A LA
Antagonism of SET using OP449 enhances the efficacy of tyrosine kinase inhibitors and overcomes drug resistance in myeloid leukemia.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Agarwal, Anupriya A; MacKenzie, Ryan J RJ; Pippa, Raffaella R; Eide, Christopher A CA; Oddo, Jessica J; Tyner, Jeffrey W JW; Sears, Rosalie R; Vitek, Michael P MP; Odero, María D MD; Christensen, Dale J DJ; Druker, Brian J BJ
Comprehensive analysis of transcriptome variation uncovers known and novel driver events in T-cell acute lymphoblastic leukemia.
Plos Genetics
Atak, Zeynep Kalender ZK; Gianfelici, Valentina V; Hulselmans, Gert G; De Keersmaecker, Kim K; Devasia, Arun George AG; Geerdens, Ellen E; Mentens, Nicole N; Chiaretti, Sabina S; Durinck, Kaat K; Uyttebroeck, Anne A; Vandenberghe, Peter P; Wlodarska, Iwona I; Cloos, Jacqueline J; Foà, Robin R; Speleman, Frank F; Cools, Jan J; Aerts, Stein S