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Volumn 123, Issue 9, 2014, Pages 1372-1383

Germ-line JAK2 mutations in the kinase domain are responsible for hereditary thrombocytosis and are resistant to JAK2 and HSP90 inhibitors

(18)  Marty, Caroline a,b   Saint Martin, Cécile a,c   Pecquet, Christian d,e   Grosjean, Sarah a,c   Saliba, Joseph a,b   Mouton, Céline d,e   Leroy, Emilie d,e   Harutyunyan, Ashot S f   Abgrall, Jean François g   Favier, Rémi a,h   Toussaint, Aurélie i   Solary, Eric a,b   Kralovics, Robert f,j   Constantinescu, Stefan N d,e   Najman, Albert k   Vainchenker, William a,b   Plo, Isabelle a,b   Bellanné Chantelot, Christine a,c  

a INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ERYTHROPOIETIN; HEAT SHOCK PROTEIN 90; HEAT SHOCK PROTEIN 90 INHIBITOR; JANUS KINASE 2; STAT1 PROTEIN; THROMBOPOIETIN; THROMBOPOIETIN RECEPTOR; JAK2 PROTEIN, HUMAN; PROTEIN KINASE INHIBITOR;

EID: 84899696697     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2013-05-504555     Document Type: Article
Times cited : (69)

References (32)
  • 1
    • 34250727187 scopus 로고    scopus 로고
    • From hematopoietic stem cells to platelets
    • DOI 10.1111/j.1538-7836.2007.02472.x, State of the Art 2007: XXI Congress of the International Society on Thrombosis and Haemostasis
    • Chang Y, Bluteau D, Debili N, Vainchenker W. From hematopoietic stem cells to platelets. J Thromb Haemost. 2007;5(suppl 1):318-327. (Pubitemid 46958849)
    • (2007) Journal of Thrombosis and Haemostasis , vol.5 , Issue.SUPPL. 1 , pp. 318-327
    • Chang, Y.1    Bluteau, D.2    Debili, N.3    Vainchenker, W.4
  • 4
    • 70149101696 scopus 로고    scopus 로고
    • Analysis of the ten-eleven translocation 2 (TET2) gene in familial myeloproliferative neoplasms
    • French Group of Familial Myeloproliferative Disorders
    • Saint-Martin C, Leroy G, Delhommeau F, et al French Group of Familial Myeloproliferative Disorders. Analysis of the ten-eleven translocation 2 (TET2) gene in familial myeloproliferative neoplasms. Blood. 2009;114(8):1628-1632.
    • (2009) Blood , vol.114 , Issue.8 , pp. 1628-1632
    • Saint-Martin, C.1    Leroy, G.2    Delhommeau, F.3
  • 5
    • 47249092413 scopus 로고    scopus 로고
    • MPL mutations in myeloproliferative disorders: Analysis of the PT-1 cohort
    • Beer PA, Campbell PJ, Scott LM, et al. MPL mutations in myeloproliferative disorders: analysis of the PT-1 cohort. Blood. 2008;112(1):141-149.
    • (2008) Blood , vol.112 , Issue.1 , pp. 141-149
    • Beer, P.A.1    Campbell, P.J.2    Scott, L.M.3
  • 6
    • 2542502506 scopus 로고    scopus 로고
    • Familial essential thrombocythemia associated with a dominant-positive activating mutation of the c-MPL gene, which encodes for the receptor for thrombopoietin
    • DOI 10.1182/blood-2003-10-3471
    • Ding J, Komatsu H, Wakita A, et al. Familial essential thrombocythemia associated with a dominant-positive activating mutation of the c-MPL gene, which encodes for the receptor for thrombopoietin. Blood. 2004;103(11):4198-4200. (Pubitemid 38685363)
    • (2004) Blood , vol.103 , Issue.11 , pp. 4198-4200
    • Ding, J.1    Komatsu, H.2    Wakita, A.3    Kato-Uranishi, M.4    Ito, M.5    Satoh, A.6    Tsuboi, K.7    Nitta, M.8    Miyazaki, H.9    Iida, S.10    Ueda, R.11
  • 7
    • 58149084511 scopus 로고    scopus 로고
    • Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene
    • El-Harith EA, Roesl C, Ballmaier M, et al. Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene. Br J Haematol. 2009;144(2):185-194.
    • (2009) Br J Haematol , vol.144 , Issue.2 , pp. 185-194
    • El-Harith, E.A.1    Roesl, C.2    Ballmaier, M.3
  • 8
    • 84902580391 scopus 로고    scopus 로고
    • Germline MPLW515R mutation in a family with isolated thrombocytosis
    • [abstract] Abstract 1764
    • Vilaine M, Gourain V, Cleyrat C, et al. Germline MPLW515R mutation in a family with isolated thrombocytosis [abstract]. Blood. 2012;120(21). Abstract 1764.
    • (2012) Blood , vol.120 , Issue.21
    • Vilaine, M.1    Gourain, V.2    Cleyrat, C.3
  • 9
    • 84866625270 scopus 로고    scopus 로고
    • A novel activating JAK2 mutation, JAK2R564Q, causes familial essential thrombocytosis (fET) via mechanisms distinct from JAK2V617F
    • [abstract] Abstract 123
    • Etheridge L, Corbo LM, Kaushansky K, Chan E, Hitchcock IS. A novel activating JAK2 mutation, JAK2R564Q, causes familial essential thrombocytosis (fET) via mechanisms distinct from JAK2V617F [abstract]. Blood. 2011;118(21). Abstract 123.
    • (2011) Blood , vol.118 , Issue.21
    • Etheridge, L.1    Corbo, L.M.2    Kaushansky, K.3    Chan, E.4    Hitchcock, I.S.5
  • 10
    • 84880541262 scopus 로고    scopus 로고
    • Impact of isolated germline JAK2V617I mutation on human hematopoiesis
    • Mead AJ, Chowdhury O, Pecquet C, et al. Impact of isolated germline JAK2V617I mutation on human hematopoiesis. Blood. 2013;121(20):4156-4165.
    • (2013) Blood , vol.121 , Issue.20 , pp. 4156-4165
    • Mead, A.J.1    Chowdhury, O.2    Pecquet, C.3
  • 11
    • 84857863366 scopus 로고    scopus 로고
    • Germline JAK2 mutation in a family with hereditary thrombocytosis
    • Mead AJ, Rugless MJ, Jacobsen SE, Schuh A. Germline JAK2 mutation in a family with hereditary thrombocytosis. N Engl J Med. 2012;366(10):967-969.
    • (2012) N Engl J Med , vol.366 , Issue.10 , pp. 967-969
    • Mead, A.J.1    Rugless, M.J.2    Jacobsen, S.E.3    Schuh, A.4
  • 12
    • 0033566796 scopus 로고    scopus 로고
    • A single-base deletion in the thrombopoietin (TPO) gene causes familial essential thrombocythemia through a mechanism of more efficient translation of TPO mRNA [3]
    • Ghilardi N, Skoda RC. A single-base deletion in the thrombopoietin (TPO) gene causes familial essential thrombocythemia through a mechanism of more efficient translation of TPO mRNA. Blood. 1999;94(4):1480-1482. (Pubitemid 29380432)
    • (1999) Blood , vol.94 , Issue.4 , pp. 1480-1482
    • Ghilardi, N.1    Skoda, R.C.2
  • 13
    • 0032757997 scopus 로고    scopus 로고
    • Hereditary thrombocythaemia in a Japanese family is caused by a novel point mutation in the thrombopoietin gene
    • DOI 10.1046/j.1365-2141.1999.01710.x
    • Ghilardi N, Wiestner A, Kikuchi M, Ohsaka A, Skoda RC. Hereditary thrombocythaemia in a Japanese family is caused by a novel point mutation in the thrombopoietin gene. Br J Haematol. 1999;107(2):310-316. (Pubitemid 29530216)
    • (1999) British Journal of Haematology , vol.107 , Issue.2 , pp. 310-316
    • Guilardi, N.1    Wiestner, A.2    Kikucm, M.3    Onsaka, A.4    Skoda, R.C.5
  • 14
    • 0032529663 scopus 로고    scopus 로고
    • Familial essential thrombocythemia associated with one-base deletion in the 5'-untranslated region of the thrombopoietin gene
    • Kondo T, Okabe M, Sanada M, et al. Familial essential thrombocythemia associated with one-base deletion in the 5′-untranslated region of the thrombopoietin gene. Blood. 1998;92(4):1091-1096. (Pubitemid 28369020)
    • (1998) Blood , vol.92 , Issue.4 , pp. 1091-1096
    • Kondo, T.1    Okabe, M.2    Sanada, M.3    Kurosawa, M.4    Suzuki, S.5    Kobayashi, M.6    Hosokawa, M.7    Asaka, M.8
  • 15
    • 0033897370 scopus 로고    scopus 로고
    • Hereditary thrombocythaemia is a genetically heterogeneous disorder: Exclusion of TPO and MPL in two families with hereditary thrombocythaemia
    • DOI 10.1046/j.1365-2141.2000.02169.x
    • Wiestner A, Padosch SA, Ghilardi N, et al. Hereditary thrombocythaemia is a genetically heterogeneous disorder: exclusion of TPO and MPL in two families with hereditary thrombocythaemia. Br J Haematol. 2000;110(1):104-109. (Pubitemid 30627498)
    • (2000) British Journal of Haematology , vol.110 , Issue.1 , pp. 104-109
    • Wiestner, A.1    Padosch, S.A.2    Ghilardi, N.3    Cesar, J.M.4    Odriozola, J.5    Shapiro, A.6    Skoda, R.C.7
  • 16
    • 38349101871 scopus 로고    scopus 로고
    • Classification and diagnosis of myeloproliferative neoplasms: The 2008 World Health Organization criteria and point-of-care diagnostic algorithms
    • Tefferi A, Vardiman JW. Classification and diagnosis of myeloproliferative neoplasms: the 2008 World Health Organization criteria and point-of-care diagnostic algorithms. Leukemia. 2008;22(1):14-22.
    • (2008) Leukemia , vol.22 , Issue.1 , pp. 14-22
    • Tefferi, A.1    Vardiman, J.W.2
  • 22
    • 0038371050 scopus 로고    scopus 로고
    • Autoinhibition of Jak2 tyrosine kinase is dependent on specific regions in its pseudokinase domain
    • DOI 10.1091/mbc.E02-06-0342
    • Saharinen P, Vihinen M, Silvennoinen O. Autoinhibition of Jak2 tyrosine kinase is dependent on specific regions in its pseudokinase domain. Mol Biol Cell. 2003;14(4):1448-1459. (Pubitemid 36547413)
    • (2003) Molecular Biology of the Cell , vol.14 , Issue.4 , pp. 1448-1459
    • Saharinen, P.1    Vihinen, M.2    Silvennoinen, O.3
  • 23
    • 82755162703 scopus 로고    scopus 로고
    • Three new loci for determining X chromosome inactivation patterns
    • Bertelsen B, Tümer Z, Ravn K. Three new loci for determining X chromosome inactivation patterns. J Mol Diagn. 2011;13(5):537-540.
    • (2011) J Mol Diagn , vol.13 , Issue.5 , pp. 537-540
    • Bertelsen, B.1    Tümer, Z.2    Ravn, K.3
  • 24
    • 77957896694 scopus 로고    scopus 로고
    • A senescence-like cell-cycle arrest occurs during megakaryocytic maturation: Implications for physiological and pathological megakaryocytic proliferation
    • Besancenot R, Chaligné R, Tonetti C, et al. A senescence-like cell-cycle arrest occurs during megakaryocytic maturation: implications for physiological and pathological megakaryocytic proliferation. PLoS Biol. 2010;8(9):e1000476.
    • (2010) PLoS Biol , vol.8 , Issue.9
    • Besancenot, R.1    Chaligné, R.2    Tonetti, C.3
  • 25
    • 84861209585 scopus 로고    scopus 로고
    • Thrombopoietin receptor down-modulation by JAK2 V617F: Restoration of receptor levels by inhibitors of pathologic JAK2 signaling and of proteasomes
    • Pecquet C, Diaconu CC, Staerk J, et al. Thrombopoietin receptor down-modulation by JAK2 V617F: restoration of receptor levels by inhibitors of pathologic JAK2 signaling and of proteasomes. Blood. 2012;119(20):4625-4635.
    • (2012) Blood , vol.119 , Issue.20 , pp. 4625-4635
    • Pecquet, C.1    Diaconu, C.C.2    Staerk, J.3
  • 26
    • 80455174620 scopus 로고    scopus 로고
    • Orientation-specific signalling by thrombopoietin receptor dimers
    • Staerk J, Defour JP, Pecquet C, et al. Orientation-specific signalling by thrombopoietin receptor dimers. EMBO J. 2011;30(21):4398-4413.
    • (2011) EMBO J , vol.30 , Issue.21 , pp. 4398-4413
    • Staerk, J.1    Defour, J.P.2    Pecquet, C.3
  • 27
    • 84859643082 scopus 로고    scopus 로고
    • Kinase domain mutations confer resistance to novel inhibitors targeting JAK2V617F in myeloproliferative neoplasms
    • Deshpande A, Reddy MM, Schade GO, et al. Kinase domain mutations confer resistance to novel inhibitors targeting JAK2V617F in myeloproliferative neoplasms. Leukemia. 2012;26(4):708-715.
    • (2012) Leukemia , vol.26 , Issue.4 , pp. 708-715
    • Deshpande, A.1    Reddy, M.M.2    Schade, G.O.3
  • 28
    • 84856932936 scopus 로고    scopus 로고
    • Genetic resistance to JAK2 enzymatic inhibitors is overcome by HSP90 inhibition
    • Weigert O, Lane AA, Bird L, et al. Genetic resistance to JAK2 enzymatic inhibitors is overcome by HSP90 inhibition. J Exp Med. 2012;209(2):259-273.
    • (2012) J Exp Med , vol.209 , Issue.2 , pp. 259-273
    • Weigert, O.1    Lane, A.A.2    Bird, L.3
  • 29
    • 67249146555 scopus 로고    scopus 로고
    • JAK mutations in high-risk childhood acute lymphoblastic leukemia
    • Mullighan CG, Zhang J, Harvey RC, et al. JAK mutations in high-risk childhood acute lymphoblastic leukemia. Proc Natl Acad Sci USA. 2009;106(23):9414-9418.
    • (2009) Proc Natl Acad Sci USA , vol.106 , Issue.23 , pp. 9414-9418
    • Mullighan, C.G.1    Zhang, J.2    Harvey, R.C.3
  • 31
    • 78249256979 scopus 로고    scopus 로고
    • Distinct clinical phenotypes associated with JAK2V617F reflect differential STAT1 signaling
    • Chen E, Beer PA, Godfrey AL, et al. Distinct clinical phenotypes associated with JAK2V617F reflect differential STAT1 signaling. Cancer Cell. 2010;18(5):524-535.
    • (2010) Cancer Cell , vol.18 , Issue.5 , pp. 524-535
    • Chen, E.1    Beer, P.A.2    Godfrey, A.L.3
  • 32
    • 79958061888 scopus 로고    scopus 로고
    • Oncogenic JAK1 and JAK2-activating mutations resistant to ATP-competitive inhibitors
    • Hornakova T, Springuel L, Devreux J, et al. Oncogenic JAK1 and JAK2-activating mutations resistant to ATP-competitive inhibitors. Haematologica. 2011;96(6):845-853.
    • (2011) Haematologica , vol.96 , Issue.6 , pp. 845-853
    • Hornakova, T.1    Springuel, L.2    Devreux, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.