Publications:

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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: JAK2: 1821G>C; Lys607Asn

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications

Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX

Publication Date: 2022-06-15

Variant appearance in text: JAK2: K607N

PubMed Link: 35705558

Variant Present in the following documents:

• 41467_2022_30496_MOESM2_ESM.xls, sheet 1

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C/EBPβ regulates the JAK/STAT signaling pathway in triple-negative breast cancer.

Febs Open Bio

Wang, Shu S; Xia, Dian D; Wang, Xianzhi X; Cao, Haowei H; Wu, Chaoshen C; Sun, Zhaoran Z; Zhang, Daoyong D; Liu, Hao H

Publication Date: 2021-04

Variant appearance in text: JAK2: K607N

PubMed Link: 33660927

Variant Present in the following documents:

• FEB4-11-1250.pdf

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Rae1 drives NKG2D binding-dependent tumor development in mice by activating mTOR and STAT3 pathways in tumor cells.

Cancer Science

Zhao, Peiyan P; Yang, Lei L; Li, Xin X; Lu, Wenting W; Lu, Fangjie F; Wang, Shengnan S; Wang, Ying Y; Hua, Li L; Cui, Cuiyun C; Dong, Boqi B; Yu, Yongli Y; Wang, Liying L

Publication Date: 2020-07

Variant appearance in text: JAK2: K607N

PubMed Link: 32333709

Variant Present in the following documents:

• CAS-111-2234.pdf

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Prospects for pharmacological targeting of pseudokinases.

Nature Reviews. Drug Discovery

Kung, Jennifer E JE; Jura, Natalia N

Publication Date: 2019-07

Variant appearance in text: JAK2: K607N

PubMed Link: 30850748

Variant Present in the following documents:

• Main text

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Personalized Medicine in the Oncology Clinic: Implementation and Outcomes of the Johns Hopkins Molecular Tumor Board.

Jco Precision Oncology

Dalton, W Brian WB; Forde, Patrick M PM; Kang, Hyunseok H; Connolly, Roisin M RM; Stearns, Vered V; Gocke, Christopher D CD; Eshleman, James R JR; Axilbund, Jennifer J; Petry, Dana D; Geoghegan, Cindy C; Wolff, Antonio C AC; Loeb, David M DM; Pratilas, Christine A CA; Meyer, Christian F CF; Christenson, Eric S ES; Slater, Shannon A SA; Ensminger, Jennifer J; Parsons, Heather A HA; Park, Ben H BH; Lauring, Josh J

Publication Date: 2017

Variant appearance in text: JAK2: K607N

PubMed Link: 30003184

Variant Present in the following documents:

• Main text

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The New Genomics: What Molecular Databases Can Tell Us About Human Population Variation and Endocrine Disease.

Endocrinology

Rotwein, Peter P

Publication Date: 2017-07-01

Variant appearance in text: JAK2: K607N

PubMed Link: 28498917

Variant Present in the following documents:

• Main text

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The reliable assurance of detecting somatic mutations in cancer-related genes by next-generation sequencing: the results of external quality assessment in China.

Oncotarget

Zhang, Rui R; Ding, Jiansheng J; Han, Yanxi Y; Yi, Lang L; Xie, Jiehong J; Yang, Xin X; Fan, Gaowei G; Wang, Guojing G; Hao, Mingju M; Zhang, Dong D; Zhang, Kuo K; Lin, Guigao G; Li, Jinming J

Publication Date: 2016-09-06

Variant appearance in text: JAK2: 1821G>C; lys607Asn

PubMed Link: 27542269

Variant Present in the following documents:

• Main text
• oncotarget-07-58500.pdf

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: JAK2: K607N

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s4.xls, sheet 1

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Kinome-wide decoding of network-attacking mutations rewiring cancer signaling.

Cell

Creixell, Pau P; Schoof, Erwin M EM; Simpson, Craig D CD; Longden, James J; Miller, Chad J CJ; Lou, Hua Jane HJ; Perryman, Lara L; Cox, Thomas R TR; Zivanovic, Nevena N; Palmeri, Antonio A; Wesolowska-Andersen, Agata A; Helmer-Citterich, Manuela M; Ferkinghoff-Borg, Jesper J; Itamochi, Hiroaki H; Bodenmiller, Bernd B; Erler, Janine T JT; Turk, Benjamin E BE; Linding, Rune R

Publication Date: 2015-09-24

Variant appearance in text: JAK2: K607N

PubMed Link: 26388441

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: JAK2: K607N

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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Molecular basis for pseudokinase-dependent autoinhibition of JAK2 tyrosine kinase.

Nature Structural & Molecular Biology

Shan, Yibing Y; Gnanasambandan, Kavitha K; Ungureanu, Daniela D; Kim, Eric T ET; Hammarén, Henrik H; Yamashita, Kazuo K; Silvennoinen, Olli O; Shaw, David E DE; Hubbard, Stevan R SR

Publication Date: 2014-07

Variant appearance in text: N/A

PubMed Link: 24918548

Variant Present in the following documents:

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Molecular pathways: molecular basis for sensitivity and resistance to JAK kinase inhibitors.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Meyer, Sara C SC; Levine, Ross L RL

Publication Date: 2014-04-15

Variant appearance in text: N/A

PubMed Link: 24583800

Variant Present in the following documents:

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Mechanistic insights into activation and SOCS3-mediated inhibition of myeloproliferative neoplasm-associated JAK2 mutants from biochemical and structural analyses.

The Biochemical Journal

Varghese, Leila N LN; Ungureanu, Daniela D; Liau, Nicholas P D NP; Young, Samuel N SN; Laktyushin, Artem A; Hammaren, Henrik H; Lucet, Isabelle S IS; Nicola, Nicos A NA; Silvennoinen, Olli O; Babon, Jeffrey J JJ; Murphy, James M JM

Publication Date: 2014-03-01

Variant appearance in text: JAK2: 1821G>C; K607N

PubMed Link: 24354892

Variant Present in the following documents:

• Main text

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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research

Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C

Publication Date: 2011-09-01

Variant appearance in text: JAK2: K607N

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

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A JAK2 interdomain linker relays Epo receptor engagement signals to kinase activation.

The Journal Of Biological Chemistry

Zhao, Lequn L; Dong, Hongyun H; Zhang, Cheng Cheng CC; Kinch, Lisa L; Osawa, Mitsujiro M; Iacovino, Michelina M; Grishin, Nikolai V NV; Kyba, Michael M; Huang, Lily Jun-shen LJ

Publication Date: 2009-09-25

Variant appearance in text: N/A

PubMed Link: 19638629

Variant Present in the following documents:

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Molecular drug targets in myeloproliferative neoplasms: mutant ABL1, JAK2, MPL, KIT, PDGFRA, PDGFRB and FGFR1.

Journal Of Cellular And Molecular Medicine

Tefferi, Ayalew A

Publication Date: 2009-02

Variant appearance in text: JAK2: K607N

PubMed Link: 19175693

Variant Present in the following documents:

• Main text
• jcmm0013-0215.pdf

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Consistent up-regulation of Stat3 Independently of Jak2 mutations in a new murine model of essential thrombocythemia.

Cancer Research

Senyuk, Vitalyi V; Rinaldi, Ciro Roberto CR; Li, Donglan D; Cattaneo, Francesca F; Stojanovic, Aleksandra A; Pane, Fabrizio F; Du, Xiaoping X; Mahmud, Nadim N; Dickstein, Jerome J; Nucifora, Giuseppina G

Publication Date: 2009-01-01

Variant appearance in text: N/A

PubMed Link: 19118011

Variant Present in the following documents:

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Comparison of mutated ABL1 and JAK2 as oncogenes and drug targets in myeloproliferative disorders.

Leukemia

Walz, C C; Cross, N C P NC; Van Etten, R A RA; Reiter, A A

Publication Date: 2008-07

Variant appearance in text: N/A

PubMed Link: 18528425

Variant Present in the following documents:

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JAK2 V617F in myeloid disorders: molecular diagnostic techniques and their clinical utility: a paper from the 2005 William Beaumont Hospital Symposium on Molecular Pathology.

The Journal Of Molecular Diagnostics : Jmd

Steensma, David P DP

Publication Date: 2006-09

Variant appearance in text: N/A

PubMed Link: 16931578

Variant Present in the following documents:

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