Publications:

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Identification of Altered Primary Immunodeficiency-Associated Genes and Their Implications in Pediatric Cancers.

Cancers

Standing, Shaelene S; Tran, Son S; Murguia-Favela, Luis L; Kovalchuk, Olga O; Bose, Pinaki P; Narendran, Aru A

Publication Date: 2022-11-30

Variant appearance in text: JAK2: D873N

PubMed Link: 36497424

Variant Present in the following documents:

• Main text
• cancers-14-05942.pdf

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JAK2 Alterations in Acute Lymphoblastic Leukemia: Molecular Insights for Superior Precision Medicine Strategies.

Frontiers In Cell And Developmental Biology

Downes, Charlotte Ej CE; McClure, Barbara J BJ; McDougal, Daniel P DP; Heatley, Susan L SL; Bruning, John B JB; Thomas, Daniel D; Yeung, David T DT; White, Deborah L DL

Publication Date: 2022

Variant appearance in text: JAK2: D873N

PubMed Link: 35903543

Variant Present in the following documents:

• Main text
• fcell-10-942053.pdf

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Janus Kinase Signaling: Oncogenic Criminal of Lymphoid Cancers.

Cancers

Li, Boheng B; Wan, Qin Q; Li, Zhubo Z; Chng, Wee-Joo WJ

Publication Date: 2021-10-14

Variant appearance in text: JAK2: D873N

PubMed Link: 34680295

Variant Present in the following documents:

• Main text
• cancers-13-05147.pdf

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Comprehensive Custom NGS Panel Validation for the Improvement of the Stratification of B-Acute Lymphoblastic Leukemia Patients.

Journal Of Personalized Medicine

Montaño, Adrián A; Hernández-Sánchez, Jesús J; Forero-Castro, Maribel M; Matorra-Miguel, María M; Lumbreras, Eva E; Miguel, Cristina C; Santos, Sandra S; Ramírez-Maldonado, Valentina V; Fuster, José Luís JL; de Las Heras, Natalia N; García-de Coca, Alfonso A; Sierra, Magdalena M; Dávila, Julio J; de la Fuente, Ignacio I; Olivier, Carmen C; Olazabal, Juan J; Martínez, Joaquín J; Vega-García, Nerea N; González, Teresa T; Hernández-Rivas, Jesús María JM; Benito, Rocío R

Publication Date: 2020-09-21

Variant appearance in text: JAK2: D873N

PubMed Link: 32967112

Variant Present in the following documents:

• jpm-10-00137-s001.pdf

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JAK2S523L, a novel gain-of-function mutation in a critical autoregulatory residue in JAK2V617F- MPNs.

Blood Advances

Pastore, Friederike F; Krishnan, Aishwarya A; Hammarén, Henrik M HM; Silvennoinen, Olli O; Yan, Benedict B; Levine, Ross L RL

Publication Date: 2020-09-22

Variant appearance in text: JAK2: D873N

PubMed Link: 32956452

Variant Present in the following documents:

• Main text

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Frequency and prognostic impact of ZEB2 H1038 and Q1072 mutations in childhood B-other acute lymphoblastic leukemia.

Haematologica

Zaliova, Marketa M; Potuckova, Eliska E; Lukes, Julius J; Winkowska, Lucie L; Starkova, Julia J; Janotova, Iveta I; Sramkova, Lucie L; Stary, Jan J; Zuna, Jan J; Stanulla, Martin M; Zimmermann, Martin M; Bornhauser, Beat B; Bourquin, Jean-Pierre JP; Eckert, Cornelia C; Cario, Gunnar G; Trka, Jan J

Publication Date: 2021-03-01

Variant appearance in text: JAK2: D873N

PubMed Link: 32499245

Variant Present in the following documents:

• 2020_249094_ZALIOVA_SUPPL.pdf
• 106886.pdf

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A novel targeted RNA-Seq panel identifies a subset of adult patients with acute lymphoblastic leukemia with BCR-ABL1-like characteristics.

Blood Cancer Journal

Sánchez, Ricardo R; Ribera, Jordi J; Morgades, Mireia M; Ayala, Rosa R; Onecha, Esther E; Ruiz-Heredia, Yanira Y; Juárez-Rufián, Alexandra A; de Nicolás, Rodrigo R; Sánchez-Pina, José J; Vives, Susana S; Zamora, Lurdes L; Mercadal, Santiago S; Coll, Rosa R; Cervera, Marta M; García, Olga O; Ribera, Josep-Maria JM; Martínez-López, Joaquín J

Publication Date: 2020-04-24

Variant appearance in text: JAK2: 2617G>A; D873N

PubMed Link: 32332702

Variant Present in the following documents:

• 41408_2020_308_MOESM2_ESM.xlsx, sheet 1

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Integrated genetic and epigenetic analysis revealed heterogeneity of acute lymphoblastic leukemia in Down syndrome.

Cancer Science

Kubota, Yasuo Y; Uryu, Kumiko K; Ito, Tatsuya T; Seki, Masafumi M; Kawai, Tomoko T; Isobe, Tomoya T; Kumagai, Tadayuki T; Toki, Tsutomu T; Yoshida, Kenichi K; Suzuki, Hiromichi H; Kataoka, Keisuke K; Shiraishi, Yuichi Y; Chiba, Kenichi K; Tanaka, Hiroko H; Ohki, Kentaro K; Kiyokawa, Nobutaka N; Kagawa, Jiro J; Miyano, Satoru S; Oka, Akira A; Hayashi, Yasuhide Y; Ogawa, Seishi S; Terui, Kiminori K; Sato, Atsushi A; Hata, Kenichiro K; Ito, Etsuro E; Takita, Junko J

Publication Date: 2019-10

Variant appearance in text: JAK2: D873N

PubMed Link: 31385395

Variant Present in the following documents:

• CAS-110-3358-s030.xlsx, sheet 1

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[Spectrum of somatic mutations and their prognostic significance in adult patients with B cell acute lymphoblastic leukemia].

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi

Feng, J J; Gong, X Y XY; Jia, Y J YJ; Liu, K Q KQ; Li, Y Y; Dong, X B XB; Fang, Q Y QY; Ru, K K; Li, Q H QH; Wang, H J HJ; Zhao, X L XL; Jia, Y N YN; Song, Y Y; Tian, Z Z; Wang, M M; Tang, K J KJ; Wang, J X JX; Mi, Y C YC

Publication Date: 2018-02-14

Variant appearance in text: JAK2: D873N

PubMed Link: 29562441

Variant Present in the following documents:

• Main text

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Pan-cancer genome and transcriptome analyses of 1,699 paediatric leukaemias and solid tumours.

Nature

Ma, Xiaotu X; Liu, Yu Y; Liu, Yanling Y; Alexandrov, Ludmil B LB; Edmonson, Michael N MN; Gawad, Charles C; Zhou, Xin X; Li, Yongjin Y; Rusch, Michael C MC; Easton, John J; Huether, Robert R; Gonzalez-Pena, Veronica V; Wilkinson, Mark R MR; Hermida, Leandro C LC; Davis, Sean S; Sioson, Edgar E; Pounds, Stanley S; Cao, Xueyuan X; Ries, Rhonda E RE; Wang, Zhaoming Z; Chen, Xiang X; Dong, Li L; Diskin, Sharon J SJ; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Meltzer, Paul S PS; Lau, Ching C CC; Perlman, Elizabeth J EJ; Maris, John M JM; Meshinchi, Soheil S; Hunger, Stephen P SP; Gerhard, Daniela S DS; Zhang, Jinghui J

Publication Date: 2018-03-15

Variant appearance in text: JAK2: D873N

PubMed Link: 29489755

Variant Present in the following documents:

• Main text
• NIHMS939556-supplement-Table_2-7.xlsx, sheet 6
• NIHMS939556-supplement-Table_2-7.xlsx, sheet 4

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Mechanistic Insights into Regulation of JAK2 Tyrosine Kinase.

Frontiers In Endocrinology

Hubbard, Stevan R SR

Publication Date: 2017

Variant appearance in text: JAK2: D873N

PubMed Link: 29379470

Variant Present in the following documents:

• Main text
• fendo-08-00361.pdf

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The promise of Janus kinase inhibitors in the treatment of hematological malignancies.

Cytokine

Senkevitch, Emilee E; Durum, Scott S

Publication Date: 2017-10

Variant appearance in text: JAK2: D873N

PubMed Link: 28277287

Variant Present in the following documents:

• Main text

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Evaluating Cancer of the Central Nervous System Through Next-Generation Sequencing of Cerebrospinal Fluid.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Pentsova, Elena I EI; Shah, Ronak H RH; Tang, Jiabin J; Boire, Adrienne A; You, Daoqi D; Briggs, Samuel S; Omuro, Antonio A; Lin, Xuling X; Fleisher, Martin M; Grommes, Christian C; Panageas, Katherine S KS; Meng, Fanli F; Selcuklu, S Duygu SD; Ogilvie, Shahiba S; Distefano, Natalie N; Shagabayeva, Larisa L; Rosenblum, Marc M; DeAngelis, Lisa M LM; Viale, Agnes A; Mellinghoff, Ingo K IK; Berger, Michael F MF

Publication Date: 2016-07-10

Variant appearance in text: JAK2: 2617G>A; D873N

PubMed Link: 27161972

Variant Present in the following documents:

• supp_JCO.2016.66.6487_DS_2016.666487.xlsx, sheet 1

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Molecular insights into regulation of JAK2 in myeloproliferative neoplasms.

Blood

Silvennoinen, Olli O; Hubbard, Stevan R SR

Publication Date: 2015-05-28

Variant appearance in text: JAK2: D873N

PubMed Link: 25824690

Variant Present in the following documents:

• Main text

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Evaluation of the in vitro and in vivo efficacy of the JAK inhibitor AZD1480 against JAK-mutated acute lymphoblastic leukemia.

Molecular Cancer Therapeutics

Suryani, Santi S; Bracken, Lauryn S LS; Harvey, Richard C RC; Sia, Keith C S KC; Carol, Hernan H; Chen, I-Ming IM; Evans, Kathryn K; Dietrich, Philipp A PA; Roberts, Kathryn G KG; Kurmasheva, Raushan T RT; Billups, Catherine A CA; Mullighan, Charles G CG; Willman, Cheryl L CL; Loh, Mignon L ML; Hunger, Stephen P SP; Houghton, Peter J PJ; Smith, Malcolm A MA; Lock, Richard B RB

Publication Date: 2015-02

Variant appearance in text: JAK2: D873N

PubMed Link: 25504635

Variant Present in the following documents:

• Main text

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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: JAK2: D873N

PubMed Link: 24918548

Variant Present in the following documents:

• Main text

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Structure of the pseudokinase-kinase domains from protein kinase TYK2 reveals a mechanism for Janus kinase (JAK) autoinhibition.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Lupardus, Patrick J PJ; Ultsch, Mark M; Wallweber, Heidi H; Bir Kohli, Pawan P; Johnson, Adam R AR; Eigenbrot, Charles C

Publication Date: 2014-06-03

Variant appearance in text: JAK2: D873N

PubMed Link: 24843152

Variant Present in the following documents:

• Main text

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Redox regulation of Janus kinase: The elephant in the room.

Jak-Stat

Duhé, Roy J RJ

Publication Date: 2013-10-01

Variant appearance in text: JAK2: D873N

PubMed Link: 24416654

Variant Present in the following documents:

• Main text
• jkst-2-e26141.pdf

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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: 2617G>A; D873N

PubMed Link: 24354892

Variant Present in the following documents:

• Main text

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Rearrangement of CRLF2 is associated with mutation of JAK kinases, alteration of IKZF1, Hispanic/Latino ethnicity, and a poor outcome in pediatric B-progenitor acute lymphoblastic leukemia.

Blood

Harvey, Richard C RC; Mullighan, Charles G CG; Chen, I-Ming IM; Wharton, Walker W; Mikhail, Fady M FM; Carroll, Andrew J AJ; Kang, Huining H; Liu, Wei W; Dobbin, Kevin K KK; Smith, Malcolm A MA; Carroll, William L WL; Devidas, Meenakshi M; Bowman, W Paul WP; Camitta, Bruce M BM; Reaman, Gregory H GH; Hunger, Stephen P SP; Downing, James R JR; Willman, Cheryl L CL

Publication Date: 2010-07-01

Variant appearance in text: JAK2: D873N

PubMed Link: 20139093

Variant Present in the following documents:

• Main text

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Perspectives for the use of structural information and chemical genetics to develop inhibitors of Janus kinases.

Journal Of Cellular And Molecular Medicine

Haan, Claude C; Behrmann, Iris I; Haan, Serge S

Publication Date: 2010-03

Variant appearance in text: JAK2: D873N

PubMed Link: 20132407

Variant Present in the following documents:

• Main text
• jcmm0014-0504.pdf

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JAK mutations in high-risk childhood acute lymphoblastic leukemia.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Mullighan, Charles G CG; Zhang, Jinghui J; Harvey, Richard C RC; Collins-Underwood, J Racquel JR; Schulman, Brenda A BA; Phillips, Letha A LA; Tasian, Sarah K SK; Loh, Mignon L ML; Su, Xiaoping X; Liu, Wei W; Devidas, Meenakshi M; Atlas, Susan R SR; Chen, I-Ming IM; Clifford, Robert J RJ; Gerhard, Daniela S DS; Carroll, William L WL; Reaman, Gregory H GH; Smith, Malcolm M; Downing, James R JR; Hunger, Stephen P SP; Willman, Cheryl L CL

Publication Date: 2009-06-09

Variant appearance in text: JAK2: D873N

PubMed Link: 19470474

Variant Present in the following documents:

• Main text

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