Publications:

---

Case report: Double L611S/V617L JAK2 mutation in a patient with polycythemia vera originally diagnosed with essential thrombocythemia.

Frontiers In Oncology

Li, Xiao-Qing XQ; Liu, Jia-Jun JJ; Liu, Cheng-Cheng CC

Publication Date: 2022

Variant appearance in text: JAK2: 1832T>C; L611S

PubMed Link: 36483035

Variant Present in the following documents:

• Main text
• fonc-12-937362.pdf

View BVdb publication page

---

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: L611S

PubMed Link: 35903543

Variant Present in the following documents:

• Main text
• fcell-10-942053.pdf

View BVdb publication page

---

Genetic Background of Polycythemia Vera.

Genes

Regimbeau, Mathilde M; Mary, Romain R; Hermetet, François F; Girodon, François F

Publication Date: 2022-04-02

Variant appearance in text: JAK2: L611S

PubMed Link: 35456443

Variant Present in the following documents:

• Main text
• genes-13-00637.pdf

View BVdb publication page

---

A Rare Co-Occurrence of Triple Mutations in JAK2, CALR, and MPL in the Same Patient with Myelofibrosis.

Case Reports In Hematology

Thomas, Sherine J SJ; Dash, D P DP

Publication Date: 2022

Variant appearance in text: JAK2: 1832T>C; L611S

PubMed Link: 35237453

Variant Present in the following documents:

• CRIHEM2022-4579122.pdf

View BVdb publication page

---

Oncogenic TYK2P760L kinase is effectively targeted by combinatorial TYK2, mTOR and CDK4/6 kinase blockade.

Haematologica

Woess, Katharina K; Macho-Maschler, Sabine S; Van Ingen Schenau, Dorette S DS; Butler, Miriam M; Lassnig, Caroline C; Valcanover, Daniel D; Poelzl, Andrea A; Meissl, Katrin K; Maurer, Barbara B; Brandstoetter, Tania T; Vogl, Claus C; Koren, Anna A; Kubicek, Stefan S; Orlova, Anna A; Moriggl, Richard R; Strobl, Birgit B; Sexl, Veronika V; Van Leeuwen, Frank N FN; Kuiper, Roland P RP; Mueller, Mathias M

Publication Date: 2022-01-13

Variant appearance in text: JAK2: L611S

PubMed Link: 35021603

Variant Present in the following documents:

• 108993.pdf

View BVdb publication page

---

Thrombocytosis in children and adolescents-classification, diagnostic approach, and clinical management.

Annals Of Hematology

Stockklausner, Clemens C; Duffert, C M CM; Cario, H H; Knöfler, R R; Streif, W W; Kulozik, A E AE; ,

Publication Date: 2021-07

Variant appearance in text: JAK2: L611S

PubMed Link: 33712866

Variant Present in the following documents:

• Main text
• 277_2021_Article_4485.pdf

View BVdb publication page

---

EBP2, a novel NPM-ALK-interacting protein in the nucleolus, contributes to the proliferation of ALCL cells by regulating tumor suppressor p53.

Molecular Oncology

Uchihara, Yuki Y; Tago, Kenji K; Tamura, Hiroomi H; Funakoshi-Tago, Megumi M

Publication Date: 2021-01

Variant appearance in text: JAK2: L611S

PubMed Link: 33040459

Variant Present in the following documents:

• MOL2-15-167.pdf

View BVdb publication page

---

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: L611S

PubMed Link: 32956452

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Clinical utility of target capture-based panel sequencing in hematological malignancies: A multicenter feasibility study.

Cancer Science

Yasuda, Takahiko T; Sanada, Masashi M; Nishijima, Dai D; Kanamori, Takashi T; Iijima, Yuka Y; Hattori, Hiroyoshi H; Saito, Akiko A; Miyoshi, Hiroaki H; Ishikawa, Yuichi Y; Asou, Norio N; Usuki, Kensuke K; Hirabayashi, Shinsuke S; Kato, Motohiro M; Ri, Masaki M; Handa, Hiroshi H; Ishida, Tadao T; Shibayama, Hirohiko H; Abe, Masahiro M; Iriyama, Chisako C; Karube, Kennosuke K; Nishikori, Momoko M; Ohshima, Koichi K; Kataoka, Keisuke K; Yoshida, Kenichi K; Shiraishi, Yuichi Y; Goto, Hiroaki H; Adachi, Souichi S; Kobayashi, Ryoji R; Kiyoi, Hitoshi H; Miyazaki, Yasushi Y; Ogawa, Seishi S; Kurahashi, Hiroki H; Yokoyama, Hisayuki H; Manabe, Atsushi A; Iida, Shinsuke S; Tomita, Akihiro A; Horibe, Keizo K

Publication Date: 2020-09

Variant appearance in text: JAK2: L611S

PubMed Link: 32619037

Variant Present in the following documents:

• CAS-111-3367-s004.xlsx, sheet 4

View BVdb publication page

---

White blood cell and cell-free DNA analyses for detection of residual disease in gastric cancer.

Nature Communications

Leal, Alessandro A; van Grieken, Nicole C T NCT; Palsgrove, Doreen N DN; Phallen, Jillian J; Medina, Jamie E JE; Hruban, Carolyn C; Broeckaert, Mark A M MAM; Anagnostou, Valsamo V; Adleff, Vilmos V; Bruhm, Daniel C DC; Canzoniero, Jenna V JV; Fiksel, Jacob J; Nordsmark, Marianne M; Warmerdam, Fabienne A R M FARM; Verheul, Henk M W HMW; van Spronsen, Dick Johan DJ; Beerepoot, Laurens V LV; Geenen, Maud M MM; Portielje, Johanneke E A JEA; Jansen, Edwin P M EPM; van Sandick, Johanna J; Meershoek-Klein Kranenbarg, Elma E; van Laarhoven, Hanneke W M HWM; van der Peet, Donald L DL; van de Velde, Cornelis J H CJH; Verheij, Marcel M; Fijneman, Remond R; Scharpf, Robert B RB; Meijer, Gerrit A GA; Cats, Annemieke A; Velculescu, Victor E VE

Publication Date: 2020-01-27

Variant appearance in text: JAK2: L611S

PubMed Link: 31988276

Variant Present in the following documents:

• 41467_2020_14310_MOESM1_ESM.pdf
• 41467_2020_14310_MOESM11_ESM.xlsx, sheet 1
• 41467_2020_14310_MOESM8_ESM.xlsx, sheet 1
• 41467_2020_14310_MOESM6_ESM.xlsx, sheet 6
• 41467_2020_14310_MOESM6_ESM.xlsx, sheet 9

View BVdb publication page

---

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: L611S

PubMed Link: 30850748

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Germline JAK2 L611S mutation in a child with thrombocytosis.

Haematologica

Aral, Bernard B; Courtois, Martine M; Ragot, Sylviane S; Bourgeois, Valentin V; Bottolier-Lemallaz, Elodie E; Briandet, Claire C; Girodon, François F

Publication Date: 2018-08

Variant appearance in text: JAK2: Leu611Ser

PubMed Link: 29567786

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Mechanistic Insights into Regulation of JAK2 Tyrosine Kinase.

Frontiers In Endocrinology

Hubbard, Stevan R SR

Publication Date: 2017

Variant appearance in text: JAK2: L611S

PubMed Link: 29379470

Variant Present in the following documents:

• Main text
• fendo-08-00361.pdf

View BVdb publication page

---

Identification of a novel functional JAK1 S646P mutation in acute lymphoblastic leukemia.

Oncotarget

Li, Qian Q; Li, Botao B; Hu, Liangding L; Ning, Hongmei H; Jiang, Min M; Wang, Danhong D; Liu, Tingting T; Zhang, Bin B; Chen, Hu H

Publication Date: 2017-05-23

Variant appearance in text: JAK2: L611S

PubMed Link: 28410228

Variant Present in the following documents:

• Main text
• oncotarget-08-34687.pdf

View BVdb publication page

---

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: L611S

PubMed Link: 28277287

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: L611S

PubMed Link: 27919910

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: L611S

PubMed Link: 27899802

Variant Present in the following documents:

• leu2016365x3.xlsx, sheet 1

View BVdb publication page

---

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: L611S

PubMed Link: 25057888

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: L611S

PubMed Link: 24843152

Variant Present in the following documents:

• Main text

View BVdb publication page

---

A Novel Homozygous Nucleotide Deletion in the JAK2 Gene in a Pediatric Patient with B-cell Precursor Acute Lymphoblastic Leukemia.

Turkish Journal Of Haematology : Official Journal Of Turkish Society Of Haematology

Akın, Dilara Fatma DF; Akkaya, Emel E; Kürekçi, A Emin AE; Arslan, Ciğdem C; Ezer, Ustün U; Akar, Nejat N

Publication Date: 2012-06

Variant appearance in text: JAK2: L611S

PubMed Link: 24744653

Variant Present in the following documents:

• TJH-29-185.pdf

View BVdb publication page

---

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: JAK2: L611S

PubMed Link: 24583800

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Investigation of genetic disturbances in oxygen sensing and erythropoietin signaling pathways in cases of idiopathic erythrocytosis.

Genetics Research International

Dinardo, Carla Luana CL; Santos, Paulo Caleb Junior Lima PC; Schettert, Isolmar Tadeu IT; Soares, Renata Alonso Gadi RA; Krieger, Jose Eduardo JE; Pereira, Alexandre Costa AC

Publication Date: 2013

Variant appearance in text: JAK2: L611S

PubMed Link: 24363938

Variant Present in the following documents:

• GRI2013-495724.pdf

View BVdb publication page

---

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: 1832T>C; L611S

PubMed Link: 24354892

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: L611S

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 1

View BVdb publication page

---

Critical roles of Myc-ODC axis in the cellular transformation induced by myeloproliferative neoplasm-associated JAK2 V617F mutant.

Plos One

Funakoshi-Tago, Megumi M; Sumi, Kazuya K; Kasahara, Tadashi T; Tago, Kenji K

Publication Date: 2013

Variant appearance in text: JAK2: L611S

PubMed Link: 23300995

Variant Present in the following documents:

• pone.0052844.pdf

View BVdb publication page

---

Janus kinase deregulation in leukemia and lymphoma.

Immunity

Chen, Edwin E; Staudt, Louis M LM; Green, Anthony R AR

Publication Date: 2012-04-20

Variant appearance in text: JAK2: L611S

PubMed Link: 22520846

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: L611S

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

View BVdb publication page

---

ZFP36L1 negatively regulates erythroid differentiation of CD34+ hematopoietic stem cells by interfering with the Stat5b pathway.

Molecular Biology Of The Cell

Vignudelli, Tatiana T; Selmi, Tommaso T; Martello, Andrea A; Parenti, Sandra S; Grande, Alexis A; Gemelli, Claudia C; Zanocco-Marani, Tommaso T; Ferrari, Sergio S

Publication Date: 2010-10-01

Variant appearance in text: JAK2: L611S

PubMed Link: 20702587

Variant Present in the following documents:

• zmk3340.pdf

View BVdb publication page

---

STAT5 activation is critical for the transformation mediated by myeloproliferative disorder-associated JAK2 V617F mutant.

The Journal Of Biological Chemistry

Funakoshi-Tago, Megumi M; Tago, Kenji K; Abe, Miyuki M; Sonoda, Yoshiko Y; Kasahara, Tadashi T

Publication Date: 2010-02-19

Variant appearance in text: JAK2: L611S

PubMed Link: 20028972

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: L611S

PubMed Link: 19638629

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The acute lymphoblastic leukemia-associated JAK2 L611S mutant induces tumorigenesis in nude mice.

The Journal Of Biological Chemistry

Funakoshi-Tago, Megumi M; Tago, Kenji K; Sumi, Kazuya K; Abe, Miyuki M; Aizu-Yokota, Eriko E; Oshio, Tomoyuki T; Sonoda, Yoshiko Y; Kasahara, Tadashi T

Publication Date: 2009-05-08

Variant appearance in text: JAK2: L611S

PubMed Link: 19289461

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: L611S

PubMed Link: 19175693

Variant Present in the following documents:

• Main text
• jcmm0013-0215.pdf

View BVdb publication page

---

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: JAK2: L611S

PubMed Link: 18528425

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Jak2 FERM domain interaction with the erythropoietin receptor regulates Jak2 kinase activity.

Molecular And Cellular Biology

Funakoshi-Tago, Megumi M; Pelletier, Stéphane S; Moritake, Hiroshi H; Parganas, Evan E; Ihle, James N JN

Publication Date: 2008-03

Variant appearance in text: JAK2: L611S

PubMed Link: 18160720

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: JAK2: L611S

PubMed Link: 16931578

Variant Present in the following documents:

• Main text

View BVdb publication page

---