Publications:

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Clinical features and prognosis of pediatric acute lymphocytic leukemia with JAK-STAT pathway genetic abnormalities: a case series.

Annals Of Hematology

Hu, Mengze M; Liu, Rong R; Li, Juanjuan J; Zhang, Lei L; Cao, Jing J; Yue, Mei M; Zhong, Dixiao D; Tang, Ruihong R

Publication Date: 2023-05-20

Variant appearance in text: JAK2: R683S

PubMed Link: 37209119

Variant Present in the following documents:

• Main text
• 277_2023_Article_5245.pdf

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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: R683S

PubMed Link: 36497424

Variant Present in the following documents:

• Main text
• cancers-14-05942.pdf

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RaScALL: Rapid (Ra) screening (Sc) of RNA-seq data for prognostically significant genomic alterations in acute lymphoblastic leukaemia (ALL).

Plos Genetics

Rehn, Jacqueline J; Mayoh, Chelsea C; Heatley, Susan L SL; McClure, Barbara J BJ; Eadie, Laura N LN; Schutz, Caitlin C; Yeung, David T DT; Cowley, Mark J MJ; Breen, James J; White, Deborah L DL

Publication Date: 2022-10

Variant appearance in text: JAK2: R683S

PubMed Link: 36251721

Variant Present in the following documents:

• Main text
• pgen.1010300.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: R683S

PubMed Link: 35903543

Variant Present in the following documents:

• Main text

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Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Nature Genetics

Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS

Publication Date: 2022-08

Variant appearance in text: JAK2: R683S

PubMed Link: 35835912

Variant Present in the following documents:

• 41588_2022_1121_MOESM3_ESM.xlsx, sheet 3

View BVdb publication page

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Outcomes of allogeneic hematopoietic cell transplantation in adults with fusions associated with Ph-like ALL.

Blood Advances

Aldoss, Ibrahim I; Yang, Dongyun D; Tomasian, Vanina V; Mokhtari, Sally S; Jackson, Ryan R; Gu, Zhaohui Z; Telatar, Milhan M; Yew, Hooi H; Al Malki, Monzr M MM; Salhotra, Amandeep A; Khaled, Samer S; Ali, Haris H; Aribi, Ahmed A; Sandhu, Karamjeet S KS; Mei, Matthew M; Arslan, Shukaib S; Koller, Paul P; Artz, Andrew A; Aoun, Patricia P; Gu, Dongqing D; Snyder, David D; Stewart, Forrest M FM; Curtin, Peter P; Stein, Anthony S AS; Pillai, Raju R; Marcucci, Guido G; Forman, Stephen J SJ; Pullarkat, Vinod V; Nakamura, Ryotaro R; Afkhami, Michelle M

Publication Date: 2022-09-13

Variant appearance in text: JAK2: 2049A>T; R683S

PubMed Link: 35816633

Variant Present in the following documents:

• advancesADV2022007597-suppl1.xlsx, sheet 1

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Simultaneous monitoring of disease and microbe dynamics through plasma DNA sequencing in pediatric patients with acute lymphoblastic leukemia.

Science Advances

Barsan, Valentin V; Xia, Yuntao Y; Klein, David D; Gonzalez-Pena, Veronica V; Youssef, Sarah S; Inaba, Yuki Y; Mahmud, Ousman O; Natarajan, Sivaraman S; Agarwal, Vibhu V; Pang, Yakun Y; Autry, Robert R; Pui, Ching-Hon CH; Inaba, Hiroto H; Evans, William W; Gawad, Charles C

Publication Date: 2022-04-22

Variant appearance in text: JAK2: R683S

PubMed Link: 35442732

Variant Present in the following documents:

• sciadv.abj1360.pdf

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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

Publication Date: 2021

Variant appearance in text: JAK2: R683S

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

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Clinical application of whole transcriptome sequencing for the classification of patients with acute lymphoblastic leukemia.

Bmc Cancer

Walter, Wencke W; Shahswar, Rabia R; Stengel, Anna A; Meggendorfer, Manja M; Kern, Wolfgang W; Haferlach, Torsten T; Haferlach, Claudia C

Publication Date: 2021-08-02

Variant appearance in text: JAK2: 2049A>T

PubMed Link: 34340673

Variant Present in the following documents:

• 12885_2021_8635_MOESM9_ESM.xlsx, sheet 1

View BVdb publication page

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Integration of intra-sample contextual error modeling for improved detection of somatic mutations from deep sequencing.

Science Advances

Abelson, Sagi S; Zeng, Andy G X AGX; Nofech-Mozes, Ido I; Wang, Ting Ting TT; Ng, Stanley W K SWK; Minden, Mark D MD; Pugh, Trevor J TJ; Awadalla, Philip P; Shlush, Liran I LI; Murphy, Tracy T; Chan, Steven M SM; Dick, John E JE; Bratman, Scott V SV

Publication Date: 2020-12

Variant appearance in text: JAK2: R683S

PubMed Link: 33298453

Variant Present in the following documents:

• abe3722_Table_S3.xlsx, sheet 3

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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: 2049A>T; R683S

PubMed Link: 32967112

Variant Present in the following documents:

• Main text
• jpm-10-00137.pdf
• jpm-10-00137-s001.pdf

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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

Publication Date: 2020-07

Variant appearance in text: JAK2: R683S

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

View BVdb publication page

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Genetic Signature of Acute Lymphoblastic Leukemia and Netherton Syndrome Co-incidence-First Report in the Literature.

Frontiers In Oncology

Skoczen, Szymon S; Stepien, Konrad K; Mlynarski, Wojciech W; Centkowski, Piotr P; Kwiecinska, Kinga K; Korostynski, Michal M; Piechota, Marcin M; Wyrobek, Elzbieta E; Moryl-Bujakowska, Angelina A; Strojny, Wojciech W; Rej, Magdalena M; Kowalczyk, Jerzy J; Balwierz, Walentyna W

Publication Date: 2019

Variant appearance in text: JAK2: R683S

PubMed Link: 32010610

Variant Present in the following documents:

• fonc-09-01477.pdf

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Characterization of JAK1 Pseudokinase Domain in Cytokine Signaling.

Cancers

Raivola, Juuli J; Haikarainen, Teemu T; Silvennoinen, Olli O

Publication Date: 2019-12-27

Variant appearance in text: JAK2: R683S

PubMed Link: 31892268

Variant Present in the following documents:

• Main text

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Comparative Tumor RNA Sequencing Analysis for Difficult-to-Treat Pediatric and Young Adult Patients With Cancer.

Jama Network Open

Vaske, Olena M OM; Bjork, Isabel I; Salama, Sofie R SR; Beale, Holly H; Tayi Shah, Avanthi A; Sanders, Lauren L; Pfeil, Jacob J; Lam, Du L DL; Learned, Katrina K; Durbin, Ann A; Kephart, Ellen T ET; Currie, Rob R; Newton, Yulia Y; Swatloski, Teresa T; McColl, Duncan D; Vivian, John J; Zhu, Jingchun J; Lee, Alex G AG; Leung, Stanley G SG; Spillinger, Aviv A; Liu, Heng-Yi HY; Liang, Winnie S WS; Byron, Sara A SA; Berens, Michael E ME; Resnick, Adam C AC; Lacayo, Norman N; Spunt, Sheri L SL; Rangaswami, Arun A; Huynh, Van V; Torno, Lilibeth L; Plant, Ashley A; Kirov, Ivan I; Zabokrtsky, Keri B KB; Rassekh, S Rod SR; Deyell, Rebecca J RJ; Laskin, Janessa J; Marra, Marco A MA; Sender, Leonard S LS; Mueller, Sabine S; Sweet-Cordero, E Alejandro EA; Goldstein, Theodore C TC; Haussler, David D

Publication Date: 2019-10-02

Variant appearance in text: JAK2: R683S

PubMed Link: 31651965

Variant Present in the following documents:

• jamanetwopen-2-e1913968-s001.pdf

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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: R683S

PubMed Link: 31385395

Variant Present in the following documents:

• CAS-110-3358-s023.xlsx, sheet 1
• CAS-110-3358-s024.xlsx, sheet 1

View BVdb publication page

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Clinical utility of custom-designed NGS panel testing in pediatric tumors.

Genome Medicine

Surrey, Lea F LF; MacFarland, Suzanne P SP; Chang, Fengqi F; Cao, Kajia K; Rathi, Komal S KS; Akgumus, Gozde T GT; Gallo, Daniel D; Lin, Fumin F; Gleason, Adam A; Raman, Pichai P; Aplenc, Richard R; Bagatell, Rochelle R; Minturn, Jane J; Mosse, Yael Y; Santi, Mariarita M; Tasian, Sarah K SK; Waanders, Angela J AJ; Sarmady, Mahdi M; Maris, John M JM; Hunger, Stephen P SP; Li, Marilyn M MM

Publication Date: 2019-05-28

Variant appearance in text: JAK2: 2049A>T; Arg683Ser

PubMed Link: 31133068

Variant Present in the following documents:

• 13073_2019_644_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Janus kinase 2 activation mechanisms revealed by analysis of suppressing mutations.

The Journal Of Allergy And Clinical Immunology

Hammarén, Henrik M HM; Virtanen, Anniina T AT; Abraham, Bobin George BG; Peussa, Heidi H; Hubbard, Stevan R SR; Silvennoinen, Olli O

Publication Date: 2019-04

Variant appearance in text: JAK2: R683S

PubMed Link: 30092288

Variant Present in the following documents:

• Main text

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Distinct age-associated molecular profiles in acute myeloid leukemia defined by comprehensive clinical genomic profiling.

Oncotarget

Tarlock, Katherine K; Zhong, Shan S; He, Yuting Y; Ries, Rhonda R; Severson, Eric E; Bailey, Mark M; Morley, Samantha S; Balasubramanian, Sohail S; Erlich, Rachel R; Lipson, Doron D; Otto, Geoff A GA; Vergillo, Jo-Anne JA; Kolb, E Anders EA; Ross, Jeffrey S JS; Mughal, Tariq T; Stephens, Philip J PJ; Miller, Vincent V; Meshinchi, Soheil S; He, Jie J

Publication Date: 2018-05-29

Variant appearance in text: JAK2: 2049A>T; R683S

PubMed Link: 29899868

Variant Present in the following documents:

• oncotarget-09-26417-s005.xlsx, sheet 1

View BVdb publication page

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Importance of Comprehensive Molecular Profiling for Clinical Outcome in Children With Recurrent Cancer.

Frontiers In Pediatrics

Østrup, Olga O; Nysom, Karsten K; Scheie, David D; Schmidt, Ane Y AY; Mathiasen, Rene R; Hjalgrim, Lisa L LL; Olsen, Tina E TE; Skjøth-Rasmussen, Jane J; Henriksen, Birthe M BM; Nielsen, Finn C FC; Wehner, Peder S PS; Schrøder, Henrik H; Sehested, Astrid M AM; Rechnitzer, Catherine C; Rossing, Maria M

Publication Date: 2018

Variant appearance in text: JAK2: R683S

PubMed Link: 29732366

Variant Present in the following documents:

• Main text
• fped-06-00114.pdf

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New Challenges in Targeting Signaling Pathways in Acute Lymphoblastic Leukemia by NGS Approaches: An Update.

Cancers

Montaño, Adrián A; Forero-Castro, Maribel M; Marchena-Mendoza, Darnel D; Benito, Rocío R; Hernández-Rivas, Jesús María JM

Publication Date: 2018-04-07

Variant appearance in text: JAK2: R683S

PubMed Link: 29642462

Variant Present in the following documents:

• cancers-10-00110.pdf

View BVdb publication page

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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: R683S

PubMed Link: 29562441

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: R683S

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

View BVdb publication page

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Inhibition of mTORC1/C2 signaling improves anti-leukemia efficacy of JAK/STAT blockade in CRLF2 rearranged and/or JAK driven Philadelphia chromosome-like acute B-cell lymphoblastic leukemia.

Oncotarget

Zhang, Qi Q; Shi, Ce C; Han, Lina L; Jain, Nitin N; Roberts, Kathryn G KG; Ma, Helen H; Cai, Tianyu T; Cavazos, Antonio A; Tabe, Yoko Y; Jacamo, Rodrigo O RO; Mu, Hong H; Zhao, Yang Y; Wang, Jing J; Wu, Shuo-Chieh SC; Cao, Fenglin F; Zeng, Zhihong Z; Zhou, Jin J; Mi, Yingchang Y; Jabbour, Elias J EJ; Levine, Ross R; Tasian, Sarah K SK; Mullighan, Charles G CG; Weinstock, David M DM; Fruman, David A DA; Konopleva, Marina M

Publication Date: 2018-01-30

Variant appearance in text: JAK2: R683S

PubMed Link: 29487712

Variant Present in the following documents:

• Main text
• oncotarget-09-8027.pdf
• oncotarget-09-8027-s001.pdf

View BVdb publication page

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JAK2 aberrations in childhood B-cell precursor acute lymphoblastic leukemia.

Oncotarget

Steeghs, Elisabeth M P EMP; Jerchel, Isabel S IS; de Goffau-Nobel, Willemieke W; Hoogkamer, Alex Q AQ; Boer, Judith M JM; Boeree, Aurélie A; van de Ven, Cesca C; Koudijs, Marco J MJ; Besselink, Nicolle J M NJM; de Groot-Kruseman, Hester A HA; Zwaan, Christian Michel CM; Horstmann, Martin A MA; Pieters, Rob R; den Boer, Monique L ML

Publication Date: 2017-10-27

Variant appearance in text: JAK2: R683S

PubMed Link: 29163799

Variant Present in the following documents:

• Main text
• oncotarget-08-89923.pdf

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Prevalence and detection of low-allele-fraction variants in clinical cancer samples.

Nature Communications

Shin, Hyun-Tae HT; Choi, Yoon-La YL; Yun, Jae Won JW; Kim, Nayoung K D NKD; Kim, Sook-Young SY; Jeon, Hyo Jeong HJ; Nam, Jae-Yong JY; Lee, Chung C; Ryu, Daeun D; Kim, Sang Cheol SC; Park, Kyunghee K; Lee, Eunjin E; Bae, Joon Seol JS; Son, Dae Soon DS; Joung, Je-Gun JG; Lee, Jeeyun J; Kim, Seung Tae ST; Ahn, Myung-Ju MJ; Lee, Se-Hoon SH; Ahn, Jin Seok JS; Lee, Woo Yong WY; Oh, Bo Young BY; Park, Yeon Hee YH; Lee, Jeong Eon JE; Lee, Kwang Hyuk KH; Kim, Hee Cheol HC; Kim, Kyoung-Mee KM; Im, Young-Hyuck YH; Park, Keunchil K; Park, Peter J PJ; Park, Woong-Yang WY

Publication Date: 2017-11-09

Variant appearance in text: JAK2: R683S

PubMed Link: 29123093

Variant Present in the following documents:

• 41467_2017_1470_MOESM11_ESM.xlsx, sheet 1

View BVdb publication page

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Ruxolitinib-induced defects in DNA repair cause sensitivity to PARP inhibitors in myeloproliferative neoplasms.

Blood

Nieborowska-Skorska, Margaret M; Maifrede, Silvia S; Dasgupta, Yashodhara Y; Sullivan, Katherine K; Flis, Sylwia S; Le, Bac Viet BV; Solecka, Martyna M; Belyaeva, Elizaveta A EA; Kubovcakova, Lucia L; Nawrocki, Morgan M; Kirschner, Martin M; Zhao, Huaqing H; Prchal, Josef T JT; Piwocka, Katarzyna K; Moliterno, Alison R AR; Wasik, Mariusz M; Koschmieder, Steffen S; Green, Tony R TR; Skoda, Radek C RC; Skorski, Tomasz T

Publication Date: 2017-12-28

Variant appearance in text: JAK2: R683S

PubMed Link: 29042365

Variant Present in the following documents:

• Main text

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Co-occurrence of CRLF2-rearranged and Ph+ acute lymphoblastic leukemia: a report of four patients.

Haematologica

Jain, Nitin N; Lu, Xinyan X; Daver, Naval N; Thakral, Beenu B; Wang, Sa A SA; Konoplev, Sergej S; Patel, Keyur K; Kanagal-Shamanna, Rashmi R; Valentine, Marcus M; Tang, Guilin G; Pemmaraju, Naveen N; Jorgensen, Jeffrey J; Kebriaei, Partow P; Nunez, Cesar A CA; Wierda, William W; Jabbour, Elias E; Roberts, Kathryn G KG; Mullighan, Charles G CG; Kantarjian, Hagop H; Konopleva, Marina M

Publication Date: 2017-12

Variant appearance in text: JAK2: R683S

PubMed Link: 28860345

Variant Present in the following documents:

• Main text

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Dysregulation of BCL-2 family proteins by leukemia fusion genes.

The Journal Of Biological Chemistry

Brown, Lauren M LM; Hanna, Diane T DT; Khaw, Seong L SL; Ekert, Paul G PG

Publication Date: 2017-09-01

Variant appearance in text: JAK2: R683S

PubMed Link: 28717011

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutations in TP53 and JAK2 are independent prognostic biomarkers in B-cell precursor acute lymphoblastic leukaemia.

British Journal Of Cancer

Forero-Castro, Maribel M; Robledo, Cristina C; Benito, Rocío R; Bodega-Mayor, Irene I; Rapado, Inmaculada I; Hernández-Sánchez, María M; Abáigar, María M; Maria Hernández-Sánchez, Jesús J; Quijada-Álamo, Miguel M; María Sánchez-Pina, José J; Sala-Valdés, Mónica M; Araujo-Silva, Fernanda F; Kohlmann, Alexander A; Luis Fuster, José J; Arefi, Maryam M; de Las Heras, Natalia N; Riesco, Susana S; Rodríguez, Juan N JN; Hermosín, Lourdes L; Ribera, Jordi J; Camos Guijosa, Mireia M; Ramírez, Manuel M; de Heredia Rubio, Cristina Díaz CD; Barragán, Eva E; Martínez, Joaquín J; Ribera, José M JM; Fernández-Ruiz, Elena E; Hernández-Rivas, Jesús-María JM

Publication Date: 2017-07-11

Variant appearance in text: JAK2: R683S

PubMed Link: 28557976

Variant Present in the following documents:

• Main text
• bjc2017152a.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: R683S

PubMed Link: 28277287

Variant Present in the following documents:

• Main text

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Ph-like acute lymphoblastic leukemia: a high-risk subtype in adults.

Blood

Jain, Nitin N; Roberts, Kathryn G KG; Jabbour, Elias E; Patel, Keyur K; Eterovic, Agda Karina AK; Chen, Ken K; Zweidler-McKay, Patrick P; Lu, Xinyan X; Fawcett, Gloria G; Wang, Sa A SA; Konoplev, Sergej S; Harvey, Richard C RC; Chen, I-Ming IM; Payne-Turner, Debbie D; Valentine, Marcus M; Thomas, Deborah D; Garcia-Manero, Guillermo G; Ravandi, Farhad F; Cortes, Jorge J; Kornblau, Steven S; O'Brien, Susan S; Pierce, Sherry S; Jorgensen, Jeffrey J; Shaw, Kenna R Mills KR; Willman, Cheryl L CL; Mullighan, Charles G CG; Kantarjian, Hagop H; Konopleva, Marina M

Publication Date: 2017-02-02

Variant appearance in text: JAK2: R683S

PubMed Link: 27919910

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genomic and transcriptional landscape of P2RY8-CRLF2-positive childhood acute lymphoblastic leukemia.

Leukemia

Vesely, C C; Frech, C C; Eckert, C C; Cario, G G; Mecklenbräuker, A A; Zur Stadt, U U; Nebral, K K; Kraler, F F; Fischer, S S; Attarbaschi, A A; Schuster, M M; Bock, C C; Cavé, H H; von Stackelberg, A A; Schrappe, M M; Horstmann, M A MA; Mann, G G; Haas, O A OA; Panzer-Grümayer, R R

Publication Date: 2017-07

Variant appearance in text: JAK2: R683S

PubMed Link: 27899802

Variant Present in the following documents:

• leu2016365x3.xlsx, sheet 1

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Mutational Landscape of Pediatric Acute Lymphoblastic Leukemia.

Cancer Research

Ding, Ling-Wen LW; Sun, Qiao-Yang QY; Tan, Kar-Tong KT; Chien, Wenwen W; Mayakonda, Anand A; Yeoh, Allen Eng Juh AEJ; Kawamata, Norihiko N; Nagata, Yasunobu Y; Xiao, Jin-Fen JF; Loh, Xin-Yi XY; Lin, De-Chen DC; Garg, Manoj M; Jiang, Yan-Yi YY; Xu, Liang L; Lim, Su-Lin SL; Liu, Li-Zhen LZ; Madan, Vikas V; Sanada, Masashi M; Fernández, Lucia Torres LT; Hema Preethi, S S SS; Lill, Michael M; Kantarjian, Hagop M HM; Kornblau, Steven M SM; Miyano, Satoru S; Liang, Der-Cherng DC; Ogawa, Seishi S; Shih, Lee-Yung LY; Yang, Henry H; Koeffler, H Phillip HP

Publication Date: 2017-01-15

Variant appearance in text: JAK2: R683S

PubMed Link: 27872090

Variant Present in the following documents:

• Main text

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The biology, pathogenesis and clinical aspects of acute lymphoblastic leukemia in children with Down syndrome.

Leukemia

Lee, P P; Bhansali, R R; Izraeli, S S; Hijiya, N N; Crispino, J D JD

Publication Date: 2016-09

Variant appearance in text: JAK2: R683S

PubMed Link: 27285583

Variant Present in the following documents:

• Main text

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Characterization of pediatric Philadelphia-negative B-cell precursor acute lymphoblastic leukemia with kinase fusions in Japan.

Blood Cancer Journal

Imamura, T T; Kiyokawa, N N; Kato, M M; Imai, C C; Okamoto, Y Y; Yano, M M; Ohki, K K; Yamashita, Y Y; Kodama, Y Y; Saito, A A; Mori, M M; Ishimaru, S S; Deguchi, T T; Hashii, Y Y; Shimomura, Y Y; Hori, T T; Kato, K K; Goto, H H; Ogawa, C C; Koh, K K; Taki, T T; Manabe, A A; Sato, A A; Kikuta, A A; Adachi, S S; Horibe, K K; Ohara, A A; Watanabe, A A; Kawano, Y Y; Ishii, E E; Shimada, H H

Publication Date: 2016-05-13

Variant appearance in text: JAK2: R683S

PubMed Link: 27176795

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• Main text
• bcj201628a.pdf

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Uncoupling JAK2 V617F activation from cytokine-induced signalling by modulation of JH2 αC helix.

The Biochemical Journal

Leroy, Emilie E; Dusa, Alexandra A; Colau, Didier D; Motamedi, Amir A; Cahu, Xavier X; Mouton, Céline C; Huang, Lily J LJ; Shiau, Andrew K AK; Constantinescu, Stefan N SN

Publication Date: 2016-06-01

Variant appearance in text: JAK2: R683S

PubMed Link: 27029346

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Prognostic and therapeutic role of targetable lesions in B-lineage acute lymphoblastic leukemia without recurrent fusion genes.

Oncotarget

Messina, Monica M; Chiaretti, Sabina S; Wang, Jiguang J; Fedullo, Anna Lucia AL; Peragine, Nadia N; Gianfelici, Valentina V; Piciocchi, Alfonso A; Brugnoletti, Fulvia F; Di Giacomo, Filomena F; Pauselli, Simona S; Holmes, Antony B AB; Puzzolo, Maria Cristina MC; Ceglie, Giulia G; Apicella, Valerio V; Mancini, Marco M; Te Kronnie, Geertruy G; Testi, Anna Maria AM; Vitale, Antonella A; Vignetti, Marco M; Guarini, Anna A; Rabadan, Raul R; Foà, Robin R

Publication Date: 2016-03-22

Variant appearance in text: JAK2: R683S

PubMed Link: 26883104

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• Main text
• oncotarget-07-13886.pdf

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KRAS and CREBBP mutations: a relapse-linked malicious liaison in childhood high hyperdiploid acute lymphoblastic leukemia.

Leukemia

Malinowska-Ozdowy, K K; Frech, C C; Schönegger, A A; Eckert, C C; Cazzaniga, G G; Stanulla, M M; zur Stadt, U U; Mecklenbräuker, A A; Schuster, M M; Kneidinger, D D; von Stackelberg, A A; Locatelli, F F; Schrappe, M M; Horstmann, M A MA; Attarbaschi, A A; Bock, C C; Mann, G G; Haas, O A OA; Panzer-Grümayer, R R

Publication Date: 2015-08

Variant appearance in text: JAK2: R683S

PubMed Link: 25917266

Variant Present in the following documents:

• leu2015107x5.xls, sheet 1

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ATP binding to the pseudokinase domain of JAK2 is critical for pathogenic activation.

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

Hammarén, Henrik M HM; Ungureanu, Daniela D; Grisouard, Jean J; Skoda, Radek C RC; Hubbard, Stevan R SR; Silvennoinen, Olli O

Publication Date: 2015-04-14

Variant appearance in text: JAK2: R683S

PubMed Link: 25825724

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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: R683S

PubMed Link: 25824690

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• Main text

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Rise and fall of subclones from diagnosis to relapse in pediatric B-acute lymphoblastic leukaemia.

Nature Communications

Ma, Xiaotu X; Edmonson, Michael M; Yergeau, Donald D; Muzny, Donna M DM; Hampton, Oliver A OA; Rusch, Michael M; Song, Guangchun G; Easton, John J; Harvey, Richard C RC; Wheeler, David A DA; Ma, Jing J; Doddapaneni, HarshaVardhan H; Vadodaria, Bhavin B; Wu, Gang G; Nagahawatte, Panduka P; Carroll, William L WL; Chen, I-Ming IM; Gastier-Foster, Julie M JM; Relling, Mary V MV; Smith, Malcolm A MA; Devidas, Meenakshi M; Guidry Auvil, Jaime M JM; Downing, James R JR; Loh, Mignon L ML; Willman, Cheryl L CL; Gerhard, Daniela S DS; Mullighan, Charles G CG; Hunger, Stephen P SP; Zhang, Jinghui J

Publication Date: 2015-03-19

Variant appearance in text: JAK2: R683S

PubMed Link: 25790293

Variant Present in the following documents:

• Main text
• ncomms7604-s3.xls, sheet 1
• ncomms7604.pdf
• ncomms7604-s6.xls, sheet 1

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The molecular regulation of Janus kinase (JAK) activation.

The Biochemical Journal

Babon, Jeffrey J JJ; Lucet, Isabelle S IS; Murphy, James M JM; Nicola, Nicos A NA; Varghese, Leila N LN

Publication Date: 2014-08-15

Variant appearance in text: JAK2: R683S

PubMed Link: 25057888

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• Main text

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Outcomes of children with BCR-ABL1–like acute lymphoblastic leukemia treated with risk-directed therapy based on the levels of minimal residual disease.

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

Roberts, Kathryn G KG; Pei, Deqing D; Campana, Dario D; Payne-Turner, Debbie D; Li, Yongjin Y; Cheng, Cheng C; Sandlund, John T JT; Jeha, Sima S; Easton, John J; Becksfort, Jared J; Zhang, Jinghui J; Coustan-Smith, Elaine E; Raimondi, Susana C SC; Leung, Wing H WH; Relling, Mary V MV; Evans, William E WE; Downing, James R JR; Mullighan, Charles G CG; Pui, Ching-Hon CH

Publication Date: 2014-09-20

Variant appearance in text: JAK2: Arg683Ser

PubMed Link: 25049327

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• 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: R683S

PubMed Link: 24918548

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Mutations in epigenetic regulators including SETD2 are gained during relapse in paediatric acute lymphoblastic leukaemia.

Nature Communications

Mar, Brenton G BG; Bullinger, Lars B LB; McLean, Kathleen M KM; Grauman, Peter V PV; Harris, Marian H MH; Stevenson, Kristen K; Neuberg, Donna S DS; Sinha, Amit U AU; Sallan, Stephen E SE; Silverman, Lewis B LB; Kung, Andrew L AL; Lo Nigro, Luca L; Ebert, Benjamin L BL; Armstrong, Scott A SA

Publication Date: 2014-03-24

Variant appearance in text: JAK2: R683S

PubMed Link: 24662245

Variant Present in the following documents:

• NIHMS568254-supplement-1.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: 2049A>T; R683S

PubMed Link: 24354892

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• Main text

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: JAK2: R683S

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 1

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Tyrosine kinome sequencing of pediatric acute lymphoblastic leukemia: a report from the Children's Oncology Group TARGET Project.

Blood

Loh, Mignon L ML; Zhang, Jinghui J; Harvey, Richard C RC; Roberts, Kathryn K; Payne-Turner, Debbie D; Kang, Huining H; Wu, Gang G; Chen, Xiang X; Becksfort, Jared J; Edmonson, Michael M; Buetow, Kenneth H KH; Carroll, William L WL; Chen, I-Ming IM; Wood, Brent B; Borowitz, Michael J MJ; Devidas, Meenakshi M; Gerhard, Daniela S DS; Bowman, Paul P; Larsen, Eric E; Winick, Naomi N; Raetz, Elizabeth E; Smith, Malcolm M; Downing, James R JR; Willman, Cheryl L CL; Mullighan, Charles G CG; Hunger, Stephen P SP

Publication Date: 2013-01-17

Variant appearance in text: JAK2: Arg683Ser

PubMed Link: 23212523

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• Main text

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Differences in signaling through the B-cell leukemia oncoprotein CRLF2 in response to TSLP and through mutant JAK2.

Blood

van Bodegom, Diederik D; Zhong, Jun J; Kopp, Nadja N; Dutta, Chaitali C; Kim, Min-Sik MS; Bird, Liat L; Weigert, Oliver O; Tyner, Jeffrey J; Pandey, Akhilesh A; Yoda, Akinori A; Weinstock, David M DM

Publication Date: 2012-10-04

Variant appearance in text: JAK2: R683S

PubMed Link: 22915648

Variant Present in the following documents:

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Genetic resistance to JAK2 enzymatic inhibitors is overcome by HSP90 inhibition.

The Journal Of Experimental Medicine

Weigert, Oliver O; Lane, Andrew A AA; Bird, Liat L; Kopp, Nadja N; Chapuy, Bjoern B; van Bodegom, Diederik D; Toms, Angela V AV; Marubayashi, Sachie S; Christie, Amanda L AL; McKeown, Michael M; Paranal, Ronald M RM; Bradner, James E JE; Yoda, Akinori A; Gaul, Christoph C; Vangrevelinghe, Eric E; Romanet, Vincent V; Murakami, Masato M; Tiedt, Ralph R; Ebel, Nicolas N; Evrot, Emeline E; De Pover, Alain A; Régnier, Catherine H CH; Erdmann, Dirk D; Hofmann, Francesco F; Eck, Michael J MJ; Sallan, Stephen E SE; Levine, Ross L RL; Kung, Andrew L AL; Baffert, Fabienne F; Radimerski, Thomas T; Weinstock, David M DM

Publication Date: 2012-02-13

Variant appearance in text: JAK2: R683S

PubMed Link: 22271575

Variant Present in the following documents:

• Main text
• JEM_20111694.pdf

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Understanding the biology of CRLF2-overexpressing acute lymphoblastic leukemia.

Critical Reviews In Oncogenesis

Tasian, Sarah K SK; Loh, Mignon L ML

Publication Date: 2011

Variant appearance in text: JAK2: R683S

PubMed Link: 22150304

Variant Present in the following documents:

• Main text

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The pseudokinase domain of JAK2 is a dual-specificity protein kinase that negatively regulates cytokine signaling.

Nature Structural & Molecular Biology

Ungureanu, Daniela D; Wu, Jinhua J; Pekkala, Tuija T; Niranjan, Yashavanthi Y; Young, Clifford C; Jensen, Ole N ON; Xu, Chong-Feng CF; Neubert, Thomas A TA; Skoda, Radek C RC; Hubbard, Stevan R SR; Silvennoinen, Olli O

Publication Date: 2011-08-14

Variant appearance in text: JAK2: R683S

PubMed Link: 21841788

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: R683S

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

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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: R683S

PubMed Link: 20139093

Variant Present in the following documents:

• Main text

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Functional screening identifies CRLF2 in precursor B-cell acute lymphoblastic leukemia.

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

Yoda, Akinori A; Yoda, Yuka Y; Chiaretti, Sabina S; Bar-Natan, Michal M; Mani, Kartik K; Rodig, Scott J SJ; West, Nathan N; Xiao, Yun Y; Brown, Jennifer R JR; Mitsiades, Constantine C; Sattler, Martin M; Kutok, Jeffrey L JL; DeAngelo, Daniel J DJ; Wadleigh, Martha M; Piciocchi, Alfonso A; Dal Cin, Paola P; Bradner, James E JE; Griffin, James D JD; Anderson, Kenneth C KC; Stone, Richard M RM; Ritz, Jerome J; Foà, Robin R; Aster, Jon C JC; Frank, David A DA; Weinstock, David M DM

Publication Date: 2010-01-05

Variant appearance in text: JAK2: Arg683Ser

PubMed Link: 20018760

Variant Present in the following documents:

• Main text

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Rearrangement of CRLF2 in B-progenitor- and Down syndrome-associated acute lymphoblastic leukemia.

Nature Genetics

Mullighan, Charles G CG; Collins-Underwood, J Racquel JR; Phillips, Letha A A LA; Loudin, Michael G MG; Liu, Wei W; Zhang, Jinghui J; Ma, Jing J; Coustan-Smith, Elaine E; Harvey, Richard C RC; Willman, Cheryl L CL; Mikhail, Fady M FM; Meyer, Julia J; Carroll, Andrew J AJ; Williams, Richard T RT; Cheng, Jinjun J; Heerema, Nyla A NA; Basso, Giuseppe G; Pession, Andrea A; Pui, Ching-Hon CH; Raimondi, Susana C SC; Hunger, Stephen P SP; Downing, James R JR; Carroll, William L WL; Rabin, Karen R KR

Publication Date: 2009-11

Variant appearance in text: JAK2: R683S

PubMed Link: 19838194

Variant Present in the following documents:

• Main text

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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: JAK2: R683S

PubMed Link: 19638629

Variant Present in the following documents:

• Main text

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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: R683S

PubMed Link: 19470474

Variant Present in the following documents:

• Main text

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Insights into the manifestations, outcomes, and mechanisms of leukemogenesis in Down syndrome.

Blood

Malinge, Sébastien S; Izraeli, Shai S; Crispino, John D JD

Publication Date: 2009-03-19

Variant appearance in text: JAK2: R683S

PubMed Link: 19139078

Variant Present in the following documents:

• Main text

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