Publications:

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Molecular Genetics of Thrombotic Myeloproliferative Neoplasms: Implications in Precision Oncology.

Diagnostics (Basel, Switzerland)

Chia, Yuh Cai YC; Siti Asmaa, Mat Jusoh MJ; Ramli, Marini M; Woon, Peng Yeong PY; Johan, Muhammad Farid MF; Hassan, Rosline R; Islam, Md Asiful MA

Publication Date: 2023-01-03

Variant appearance in text: JAK2: E543del

PubMed Link: 36611455

Variant Present in the following documents:

• Main text
• diagnostics-13-00163.pdf

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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: E543del

PubMed Link: 35456443

Variant Present in the following documents:

• Main text
• genes-13-00637.pdf

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[Clinical and laboratory features compared between JAK2 exon12 and JAK2 V617F mutated polycythemia vera].

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi

Liu, D D; Zhang, P H PH; Xu, Z F ZF; Ma, J J; Qin, T J TJ; Qu, S Q SQ; Sun, X J XJ; Li, B B; Pan, L J LJ; Jia, Y J YJ; Xiao, Z J ZJ

Publication Date: 2022-02-14

Variant appearance in text: JAK2: E543del

PubMed Link: 35381670

Variant Present in the following documents:

• Main text
• cjh-43-02-107.pdf

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Genetic Landscape of Myeloproliferative Neoplasms with an Emphasis on Molecular Diagnostic Laboratory Testing.

Life (Basel, Switzerland)

Easwar, Arti A; Siddon, Alexa J AJ

Publication Date: 2021-10-30

Variant appearance in text: JAK2: E543del

PubMed Link: 34833034

Variant Present in the following documents:

• Main text

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Review of Budd-Chiari Syndrome.

Journal Of Interventional Medicine

Zu, Maoheng M; Xu, Hao H; Zhang, Qingqiao Q; Gu, Yuming Y; Wei, Ning N; Xu, Wei W; Cui, Yanfeng Y; Liu, Hongtao H

Publication Date: 2020-05

Variant appearance in text: JAK2: e543del

PubMed Link: 34805910

Variant Present in the following documents:

• Main text
• main.pdf

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Harnessing the Power of Induced Pluripotent Stem Cells and Gene Editing Technology: Therapeutic Implications in Hematological Malignancies.

Cells

Sidhu, Ishnoor I; Barwe, Sonali P SP; Pillai, Raju K RK; Gopalakrishnapillai, Anilkumar A

Publication Date: 2021-10-09

Variant appearance in text: JAK2: E543del

PubMed Link: 34685678

Variant Present in the following documents:

• Main text
• cells-10-02698.pdf

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Recent Advances in the Use of Molecular Analyses to Inform the Diagnosis and Prognosis of Patients with Polycythaemia Vera.

International Journal Of Molecular Sciences

Stuckey, Ruth R; Gómez-Casares, María Teresa MT

Publication Date: 2021-05-10

Variant appearance in text: JAK2: E543del

PubMed Link: 34068690

Variant Present in the following documents:

• Main text
• ijms-22-05042.pdf

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JAK2-V617F and interferon-α induce megakaryocyte-biased stem cells characterized by decreased long-term functionality.

Blood

Rao, Tata Nageswara TN; Hansen, Nils N; Stetka, Jan J; Luque Paz, Damien D; Kalmer, Milena M; Hilfiker, Julian J; Endele, Max M; Ahmed, Nouraiz N; Kubovcakova, Lucia L; Rybarikova, Margareta M; Hao-Shen, Hui H; Geier, Florian F; Beisel, Christian C; Dirnhofer, Stefan S; Schroeder, Timm T; Brümmendorf, Tim H TH; Wolf, Dominik D; Koschmieder, Steffen S; Skoda, Radek C RC

Publication Date: 2021-04-22

Variant appearance in text: JAK2: E543del

PubMed Link: 33667305

Variant Present in the following documents:

• Main text

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A Broad Overview of Signaling in Ph-Negative Classic Myeloproliferative Neoplasms.

Cancers

Guijarro-Hernández, Ana A; Vizmanos, José Luis JL

Publication Date: 2021-02-26

Variant appearance in text: JAK2: E543del

PubMed Link: 33652860

Variant Present in the following documents:

• Main text
• cancers-13-00984.pdf

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Diagnosis of exon 12-positive polycythemia vera rescued by NGS.

Clinical Case Reports

Geay, Antoine A; Aral, Bernard B; Bourgeois, Valentin V; Martin, Pauline P; Airaud, Fabrice F; Garrec, Céline C; Bézieau, Stéphane S; Gardie, Betty B; Girodon, François F

Publication Date: 2020-05

Variant appearance in text: JAK2: E543del

PubMed Link: 32477518

Variant Present in the following documents:

• Main text
• CCR3-8-790.pdf

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Recent insights regarding the molecular basis of myeloproliferative neoplasms.

The Korean Journal Of Internal Medicine

Jang, Mi-Ae MA; Choi, Chul Won CW

Publication Date: 2020-01

Variant appearance in text: JAK2: E543del

PubMed Link: 31778606

Variant Present in the following documents:

• Main text
• kjim-2019-317.pdf

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JAK2-mutant hematopoietic cells display metabolic alterations that can be targeted to treat myeloproliferative neoplasms.

Blood

Rao, Tata Nageswara TN; Hansen, Nils N; Hilfiker, Julian J; Rai, Shivam S; Majewska, Julia-Magdalena JM; Leković, Danijela D; Gezer, Deniz D; Andina, Nicola N; Galli, Serena S; Cassel, Teresa T; Geier, Florian F; Delezie, Julien J; Nienhold, Ronny R; Hao-Shen, Hui H; Beisel, Christian C; Di Palma, Serena S; Dimeloe, Sarah S; Trebicka, Jonel J; Wolf, Dominik D; Gassmann, Max M; Fan, Teresa W-M TW; Lane, Andrew N AN; Handschin, Christoph C; Dirnhofer, Stefan S; Kröger, Nicolaus N; Hess, Christoph C; Radimerski, Thomas T; Koschmieder, Steffen S; Čokić, Vladan P VP; Skoda, Radek C RC

Publication Date: 2019-11-21

Variant appearance in text: JAK2: E543del

PubMed Link: 31511238

Variant Present in the following documents:

• Main text

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Correlation analysis between JAK2, MPL, and CALR mutations in patients with myeloproliferative neoplasms of Chinese Uygur and Han nationality and their clinical characteristics.

The Journal Of International Medical Research

Lang, Tao T; Nie, Yuling Y; Wang, Zengsheng Z; Huang, Qin Q; An, Li L; Wang, Yichun Y; Wufuer, Guzailinuer G; Maimaiti, Aziguli A; Fu, Ling L; Li, Yan Y; Zhang, Xiaoyan X; Aisimutula, Aihemaitijiang A; Wang, Xiaomin X; Zhu, Lin L; Liu, Hong H; Mao, Min M

Publication Date: 2018-11

Variant appearance in text: JAK2: E543del

PubMed Link: 30084272

Variant Present in the following documents:

• Main text
• 10.1177_0300060518787719.pdf

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HIF2A germline-mutation-induced polycythemia in a patient with VHL-associated renal-cell carcinoma.

Cancer Biology & Therapy

Liu, Qiuli Q; Tong, Dali D; Liu, Gaolei G; Yi, Yuting Y; Zhang, Dianzheng D; Zhang, Jun J; Zhang, Yao Y; Huang, Zaoming Z; Li, Yaoming Y; Chen, Rongrong R; Guan, Yanfang Y; Yi, Xin X; Jiang, Jun J

Publication Date: 2017-12-02

Variant appearance in text: JAK2: E543del

PubMed Link: 29172931

Variant Present in the following documents:

• Main text
• kcbt-18-12-1394553.pdf

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Molecular Diagnostics with Laboratory Finding in Patients with Myeloproliferative Neoplasms.

Iranian Journal Of Public Health

Makani, Zahra Z; Mirzaahmadi, Sina S; Motallebi, Marzieh M; Movafagh, Abolfazl A

Publication Date: 2017-11

Variant appearance in text: JAK2: E543del

PubMed Link: 29167785

Variant Present in the following documents:

• Main text

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[Clinical significance of JAK2、CALR and MPL gene mutations in 1 648 Philadelphia chromosome negative myeloproliferative neoplasms patients from a single center].

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi

Li, M Y MY; Chao, H Y HY; Sun, A N AN; Qiu, H Y HY; Jin, Z M ZM; Tang, X W XW; Han, Y Y; Fu, C C CC; Chen, S N SN; Wu, D P DP

Publication Date: 2017-04-14

Variant appearance in text: JAK2: E543del

PubMed Link: 28468090

Variant Present in the following documents:

• Main text
• cjh-38-04-295.pdf

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2016 WHO Clinical Molecular and Pathological Criteria for Classification and Staging of Myeloproliferative Neoplasms (MPN) Caused by MPN Driver Mutations in the JAK2, MPL and CALR Genes in the Context of New 2016 WHO Classification: Prognostic and Therapeutic Implications.

Maedica

Michiels, Jan Jacques JJ; Tevet, Mihaela M; Trifa, Adrian A; Niculescu-Mizil, Emilia E; Lupu, Anca A; Vladareanu, Ana Maria AM; Bumbea, Horia H; Ilea, Anca A; Dobrea, Camelia C; Georgescu, Daniela D; Patrinoiu, Oana O; Popescu, Mihaela M; Murat, Meilin M; Dragan, Cornel C; Mihai, Felicia F; Zurac, Sabina S; Angelescu, Silvana S; Iova, Anamaria A; Popa, Alina A; Gogulescu, Rodica R; Popov, Violeta V

Publication Date: 2016-03

Variant appearance in text: JAK2: E543del

PubMed Link: 28465746

Variant Present in the following documents:

• Main text

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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: E543del

PubMed Link: 25023898

Variant Present in the following documents:

• Main text
• s13045-014-0048-6.pdf

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Comprehensive review of JAK inhibitors in myeloproliferative neoplasms.

Therapeutic Advances In Hematology

Sonbol, Mohamad Bassam MB; Firwana, Belal B; Zarzour, Ahmad A; Morad, Mohammad M; Rana, Vishal V; Tiu, Ramon V RV

Publication Date: 2013-02

Variant appearance in text: JAK2: E543del

PubMed Link: 23610611

Variant Present in the following documents:

• Main text

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JAK2 V617F, MPL W515L and JAK2 Exon 12 Mutations in Chinese Patients with Primary Myelofibrosis.

Chinese Journal Of Cancer Research = Chung-Kuo Yen Cheng Yen Chiu

Xia, Jun J; Lu, Mi-Ze MZ; Jiang, Yuan-Qiang YQ; Yang, Guo-Hua GH; Zhuang, Yun Y; Sun, Hong-Li HL; Shen, Yun-Feng YF

Publication Date: 2012-03

Variant appearance in text: JAK2: E543del

PubMed Link: 23359764

Variant Present in the following documents:

• Main text

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JAK2V617F homozygosity arises commonly and recurrently in PV and ET, but PV is characterized by expansion of a dominant homozygous subclone.

Blood

Godfrey, Anna L AL; Chen, Edwin E; Pagano, Francesca F; Ortmann, Christina A CA; Silber, Yvonne Y; Bellosillo, Beatriz B; Guglielmelli, Paola P; Harrison, Claire N CN; Reilly, John T JT; Stegelmann, Frank F; Bijou, Fontanet F; Lippert, Eric E; McMullin, Mary F MF; Boiron, Jean-Michel JM; Döhner, Konstanze K; Vannucchi, Alessandro M AM; Besses, Carlos C; Campbell, Peter J PJ; Green, Anthony R AR

Publication Date: 2012-09-27

Variant appearance in text: JAK2: E543del

PubMed Link: 22898600

Variant Present in the following documents:

• Main text

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A highly sensitive quantitative real-time PCR assay for determination of mutant JAK2 exon 12 allele burden.

Plos One

Kjær, Lasse L; Westman, Maj M; Hasselbalch Riley, Caroline C; Høgdall, Estrid E; Weis Bjerrum, Ole O; Hasselbalch, Hans H

Publication Date: 2012

Variant appearance in text: JAK2: E543del

PubMed Link: 22403733

Variant Present in the following documents:

• Main text

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Myeloproliferative neoplasms: from JAK2 mutations discovery to JAK2 inhibitor therapies.

Oncotarget

Passamonti, Francesco F; Maffioli, Margherita M; Caramazza, Domenica D; Cazzola, Mario M

Publication Date: 2011-06

Variant appearance in text: JAK2: E543del

PubMed Link: 21646683

Variant Present in the following documents:

• Main text
• oncotarget-02-485.pdf

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Jak/STAT pathways in cytokine signaling and myeloproliferative disorders: approaches for targeted therapies.

Genes & Cancer

Jatiani, Shashidhar S SS; Baker, Stacey J SJ; Silverman, Lewis R LR; Reddy, E Premkumar EP

Publication Date: 2010-10

Variant appearance in text: JAK2: E543del

PubMed Link: 21442038

Variant Present in the following documents:

• Main text

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Novel mutations and their functional and clinical relevance in myeloproliferative neoplasms: JAK2, MPL, TET2, ASXL1, CBL, IDH and IKZF1.

Leukemia

Tefferi, A A

Publication Date: 2010-06

Variant appearance in text: JAK2: E543del

PubMed Link: 20428194

Variant Present in the following documents:

• Main text

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Detection of exon 12 Mutations in the JAK2 gene: enhanced analytical sensitivity using clamped PCR and nucleotide sequencing.

The Journal Of Molecular Diagnostics : Jmd

Laughlin, Todd S TS; Moliterno, Alison R AR; Stein, Brady L BL; Rothberg, Paul G PG

Publication Date: 2010-05

Variant appearance in text: JAK2: E543del

PubMed Link: 20203004

Variant Present in the following documents:

• Main text

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Interlaboratory development and validation of a HRM method applied to the detection of JAK2 exon 12 mutations in polycythemia vera patients.

Plos One

Ugo, Valerie V; Tondeur, Sylvie S; Menot, Marie-Laurence ML; Bonnin, Nadine N; Le Gac, Gerald G; Tonetti, Carole C; Mansat-De Mas, Veronique V; Lecucq, Lydie L; Kiladjian, Jean-Jacques JJ; Chomienne, Christine C; Dosquet, Christine C; Parquet, Nathalie N; Darnige, Luc L; Porneuf, Marc M; Escoffre-Barbe, Martine M; Giraudier, Stephane S; Delabesse, Eric E; Cassinat, Bruno B; ,

Publication Date: 2010-01-26

Variant appearance in text: JAK2: E543del

PubMed Link: 20126644

Variant Present in the following documents:

• Main text

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A new polycythaemia vera-associated SOCS3 SH2 mutant (SOCS3F136L) cannot regulate erythropoietin responses.

British Journal Of Haematology

Suessmuth, Yvonne Y; Elliott, Joanne J; Percy, Melanie J MJ; Inami, Mitsuharu M; Attal, Hila H; Harrison, Claire N CN; Inokuchi, Koiti K; McMullin, Mary-Frances MF; Johnston, James A JA

Publication Date: 2009-11

Variant appearance in text: JAK2: E543del

PubMed Link: 19735488

Variant Present in the following documents:

• Main text

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Congenital and acquired polycythemias.

Deutsches Arzteblatt International

Siegel, Fabian P FP; Petrides, Petro E PE

Publication Date: 2008-01

Variant appearance in text: JAK2: E543del

PubMed Link: 19633771

Variant Present in the following documents:

• Main text

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Detection of JAK2 exon 12 mutations in 15 patients with JAK2V617F negative polycythemia vera.

Haematologica

Schnittger, Susanne S; Bacher, Ulrike U; Haferlach, Claudia C; Geer, Thomas T; Müller, Peter P; Mittermüller, Johann J; Petrides, Petro P; Schlag, Rudolf R; Sandner, Reiner R; Selbach, Johannes J; Slawik, Hans Rainer HR; Tessen, Hans Werner HW; Wehmeyer, Jürgen J; Kern, Wolfgang W; Haferlach, Torsten T

Publication Date: 2009-03

Variant appearance in text: JAK2: E543del

PubMed Link: 19252176

Variant Present in the following documents:

• Main text

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SOCS3 tyrosine phosphorylation as a potential bio-marker for myeloproliferative neoplasms associated with mutant JAK2 kinases.

Haematologica

Elliott, Joanne J; Suessmuth, Yvonne Y; Scott, Linda M LM; Nahlik, Krystyna K; McMullin, Mary Frances MF; Constantinescu, Stefan N SN; Green, Anthony R AR; Johnston, James A JA

Publication Date: 2009-04

Variant appearance in text: JAK2: E543del

PubMed Link: 19229050

Variant Present in the following documents:

• Main text

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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: E543del

PubMed Link: 19175693

Variant Present in the following documents:

• Main text
• jcmm0013-0215.pdf

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Clinical and molecular characterisation of a prospectively collected cohort of children and adolescents with polycythemia vera.

British Journal Of Haematology

Cario, Holger H; Schwarz, Klaus K; Herter, Jan M JM; Komrska, Vladimir V; McMullin, Mary F MF; Minkov, Milen M; Niemeyer, Charlotte C; Pospisilova, Dagmar D; Reinhard, Harald H; Debatin, Klaus-Michael KM; Pahl, Heike L HL

Publication Date: 2008-08

Variant appearance in text: JAK2: E543del

PubMed Link: 18557746

Variant Present in the following documents:

• Main text

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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: JAK2: E543del

PubMed Link: 18528425

Variant Present in the following documents:

• Main text

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JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis.

The New England Journal Of Medicine

Scott, Linda M LM; Tong, Wei W; Levine, Ross L RL; Scott, Mike A MA; Beer, Philip A PA; Stratton, Michael R MR; Futreal, P Andrew PA; Erber, Wendy N WN; McMullin, Mary Frances MF; Harrison, Claire N CN; Warren, Alan J AJ; Gilliland, D Gary DG; Lodish, Harvey F HF; Green, Anthony R AR

Publication Date: 2007-02-01

Variant appearance in text: JAK2: E543del

PubMed Link: 17267906

Variant Present in the following documents:

• Main text

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