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: M535I

PubMed Link: 36497424

Variant Present in the following documents:

• cancers-14-05942.pdf

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Integrative Genomic Analysis of Pediatric Myeloid-Related Acute Leukemias Identifies Novel Subtypes and Prognostic Indicators.

Blood Cancer Discovery

Fornerod, Maarten M; Ma, Jing J; Noort, Sanne S; Liu, Yu Y; Walsh, Michael P MP; Shi, Lei L; Nance, Stephanie S; Liu, Yanling Y; Wang, Yuanyuan Y; Song, Guangchun G; Lamprecht, Tamara T; Easton, John J; Mulder, Heather L HL; Yergeau, Donald D; Myers, Jacquelyn J; Kamens, Jennifer L JL; Obeng, Esther A EA; Pigazzi, Martina M; Jarosova, Marie M; Kelaidi, Charikleia C; Polychronopoulou, Sophia S; Lamba, Jatinder K JK; Baker, Sharyn D SD; Rubnitz, Jeffrey E JE; Reinhardt, Dirk D; van den Heuvel-Eibrink, Marry M MM; Locatelli, Franco F; Hasle, Henrik H; Klco, Jeffery M JM; Downing, James R JR; Zhang, Jinghui J; Pounds, Stanley S; Zwaan, C Michel CM; Gruber, Tanja A TA; , ; , ; , ; , ; , ; ,

Publication Date: 2021-11

Variant appearance in text: JAK2: M535I

PubMed Link: 34778799

Variant Present in the following documents:

• bloodcandisc-2-586-s001.xlsx, sheet 11

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Janus Kinases in Leukemia.

Cancers

Raivola, Juuli J; Haikarainen, Teemu T; Abraham, Bobin George BG; Silvennoinen, Olli O

Publication Date: 2021-02-14

Variant appearance in text: JAK2: M535I

PubMed Link: 33672930

Variant Present in the following documents:

• Main text
• cancers-13-00800.pdf

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Mechanism of homodimeric cytokine receptor activation and dysregulation by oncogenic mutations.

Science (New York, N.Y.)

Wilmes, Stephan S; Hafer, Maximillian M; Vuorio, Joni J; Tucker, Julie A JA; Winkelmann, Hauke H; Löchte, Sara S; Stanly, Tess A TA; Pulgar Prieto, Katiuska D KD; Poojari, Chetan C; Sharma, Vivek V; Richter, Christian P CP; Kurre, Rainer R; Hubbard, Stevan R SR; Garcia, K Christopher KC; Moraga, Ignacio I; Vattulainen, Ilpo I; Hitchcock, Ian S IS; Piehler, Jacob J

Publication Date: 2020-02-07

Variant appearance in text: JAK2: M535I

PubMed Link: 32029621

Variant Present in the following documents:

• Main text

View BVdb publication page

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appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)

Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M

Publication Date: 2018-12-15

Variant appearance in text: JAK2: 1605G>T; Met535Ile

PubMed Link: 29945233

Variant Present in the following documents:

• bty518_supplementary_data_s3.xlsx, sheet 9
• bty518_supplementary_data_s2.xlsx, sheet 9
• bty518_supplementary_data_s4.xlsx, sheet 9
• bty518_supplementary_data_s6.xlsx, sheet 9

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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: M535I

PubMed Link: 29489755

Variant Present in the following documents:

• NIHMS939556-supplement-Table_2-7.xlsx, sheet 4

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The mutation profile of JAK2 and CALR in Chinese Han patients with Philadelphia chromosome-negative myeloproliferative neoplasms.

Journal Of Hematology & Oncology

Wu, Zhiyuan Z; Zhang, Xinju X; Xu, Xiao X; Chen, Yuming Y; Hu, Tingting T; Kang, Zhihua Z; Li, Shibao S; Wang, Hua H; Liu, Weiwei W; Ma, Xiaochao X; Guan, Ming M

Publication Date: 2014-07-15

Variant appearance in text: JAK2: M535I

PubMed Link: 25023898

Variant Present in the following documents:

• Main text
• s13045-014-0048-6.pdf

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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: M535I

PubMed Link: 19638629

Variant Present in the following documents:

• Main text

View BVdb publication page

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