메뉴 건너뛰기




Volumn 128, Issue 18, 2016, Pages 2266-2270

Coexistence of gain-of-function JAK2 germ line mutations with JAK2V617F in polycythemia vera

Author keywords

[No Author keywords available]

Indexed keywords

ERYTHROPOIETIN; ERYTHROPOIETIN RECEPTOR; GANDOTINIB; HYDROXYUREA; JANUS KINASE 2; STAT1 PROTEIN; STAT3 PROTEIN; STAT5 PROTEIN; JAK2 PROTEIN, HUMAN; PHENYLALANINE; VALINE;

EID: 85015164274     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2016-04-711283     Document Type: Letter
Times cited : (25)

References (25)
  • 1
    • 84989775088 scopus 로고    scopus 로고
    • Myeloproliferative neoplasms: A contemporary review
    • Tefferi A, Pardanani A. Myeloproliferative neoplasms: a contemporary review. JAMA Oncol. 2015;1(1):97-105.
    • (2015) JAMA Oncol. , vol.1 , Issue.1 , pp. 97-105
    • Tefferi, A.1    Pardanani, A.2
  • 2
    • 66249137734 scopus 로고    scopus 로고
    • Mutation in TET2 in myeloid cancers
    • Delhommeau F, Dupont S, Della Valle V, et al. Mutation in TET2 in myeloid cancers. N Engl J Med. 2009;360(22):2289-2301.
    • (2009) N Engl J Med. , vol.360 , Issue.22 , pp. 2289-2301
    • Delhommeau, F.1    Dupont, S.2    Della Valle, V.3
  • 3
    • 77950388949 scopus 로고    scopus 로고
    • Clonal analysis of TET2 and JAK2 mutations suggests that TET2 can be a late event in the progression of myeloproliferative neoplasms
    • Schaub FX, Looser R, Li S, et al. Clonal analysis of TET2 and JAK2 mutations suggests that TET2 can be a late event in the progression of myeloproliferative neoplasms. Blood. 2010;115(10):2003-2007.
    • (2010) Blood. , vol.115 , Issue.10 , pp. 2003-2007
    • Schaub, F.X.1    Looser, R.2    Li, S.3
  • 4
    • 84898472976 scopus 로고    scopus 로고
    • Whole-exome sequencing of polycythemia vera revealed novel driver genes and somatic mutation shared by T cells and granulocytes
    • Wang L, Swierczek SI, Drummond J, et al. Whole-exome sequencing of polycythemia vera revealed novel driver genes and somatic mutation shared by T cells and granulocytes. Leukemia. 2014;28(4):935-938.
    • (2014) Leukemia. , vol.28 , Issue.4 , pp. 935-938
    • Wang, L.1    Swierczek, S.I.2    Drummond, J.3
  • 5
    • 84928958369 scopus 로고    scopus 로고
    • Effect of mutation order on myeloproliferative neoplasms
    • Ortmann CA, Kent DG, Nangalia J, et al. Effect of mutation order on myeloproliferative neoplasms. N Engl J Med. 2015;372(7):601-612.
    • (2015) N Engl J Med. , vol.372 , Issue.7 , pp. 601-612
    • Ortmann, C.A.1    Kent, D.G.2    Nangalia, J.3
  • 6
    • 33845755386 scopus 로고    scopus 로고
    • Polycythemia vera is not initiated by JAK2V617F mutation
    • Nussenzveig RH, Swierczek SI, Jelinek J, et al. Polycythemia vera is not initiated by JAK2V617F mutation. Exp Hematol. 2007;35(1):32.e1-32.e9.
    • (2007) Exp Hematol. , vol.35 , Issue.1 , pp. 32e1-32e9
    • Nussenzveig, R.H.1    Swierczek, S.I.2    Jelinek, J.3
  • 7
    • 33747199312 scopus 로고    scopus 로고
    • Acquisition of the V617F mutation of JAK2 is a late genetic event in a subset of patients with myeloproliferative disorders
    • Kralovics R, Teo SS, Li S, et al. Acquisition of the V617F mutation of JAK2 is a late genetic event in a subset of patients with myeloproliferative disorders. Blood. 2006;108(4):1377-1380.
    • (2006) Blood. , vol.108 , Issue.4 , pp. 1377-1380
    • Kralovics, R.1    Teo, S.S.2    Li, S.3
  • 8
    • 84898402032 scopus 로고    scopus 로고
    • The relationship of JAK2(V617F) and acquired UPD at chromosome 9p in polycythemia vera
    • Wang L, Swierczek SI, Lanikova L, et al. The relationship of JAK2(V617F) and acquired UPD at chromosome 9p in polycythemia vera. Leukemia. 2014;28(4): 938-941.
    • (2014) Leukemia. , vol.28 , Issue.4 , pp. 938-941
    • Wang, L.1    Swierczek, S.I.2    Lanikova, L.3
  • 9
    • 68149165614 scopus 로고    scopus 로고
    • Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
    • Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc. 2009;4(7): 1073-1081.
    • (2009) Nat Protoc. , vol.4 , Issue.7 , pp. 1073-1081
    • Kumar, P.1    Henikoff, S.2    Ng, P.C.3
  • 10
    • 33644537810 scopus 로고    scopus 로고
    • Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral
    • Tavtigian SV, Deffenbaugh AM, Yin L, et al. Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral. J Med Genet. 2006;43(4):295-305.
    • (2006) J Med Genet. , vol.43 , Issue.4 , pp. 295-305
    • Tavtigian, S.V.1    Deffenbaugh, A.M.2    Yin, L.3
  • 11
    • 0036713510 scopus 로고    scopus 로고
    • Human non-synonymous SNPs: Server and survey
    • Ramensky V, Bork P, Sunyaev S. Human non-synonymous SNPs: server and survey. Nucleic Acids Res. 2002;30(17):3894-3900.
    • (2002) Nucleic Acids Res. , vol.30 , Issue.17 , pp. 3894-3900
    • Ramensky, V.1    Bork, P.2    Sunyaev, S.3
  • 12
    • 84897456458 scopus 로고    scopus 로고
    • MutationTaster2: Mutation prediction for the deep-sequencing age
    • Schwarz JM, Cooper DN, Schuelke M, Seelow D. MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods. 2014;11(4):361-362.
    • (2014) Nat Methods. , vol.11 , Issue.4 , pp. 361-362
    • Schwarz, J.M.1    Cooper, D.N.2    Schuelke, M.3    Seelow, D.4
  • 14
    • 84878284776 scopus 로고    scopus 로고
    • Discovery and characterization of LY2784544, a small-molecule tyrosine kinase inhibitor of JAK2V617F
    • Ma L, Clayton JR, Walgren RA, et al. Discovery and characterization of LY2784544, a small-molecule tyrosine kinase inhibitor of JAK2V617F. Blood Cancer J. 2013;3:e109.
    • (2013) Blood Cancer J. , vol.3 , pp. e109
    • Ma, L.1    Clayton, J.R.2    Walgren, R.A.3
  • 15
    • 20244369569 scopus 로고    scopus 로고
    • Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis
    • Levine RL, Wadleigh M, Cools J, et al. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell. 2005;7(4):387-397.
    • (2005) Cancer Cell. , vol.7 , Issue.4 , pp. 387-397
    • Levine, R.L.1    Wadleigh, M.2    Cools, J.3
  • 16
    • 84897903692 scopus 로고    scopus 로고
    • A novel activating, germline JAK2 mutation, JAK2R564Q, causes familial essential thrombocytosis
    • Etheridge SL, Cosgrove ME, Sangkhae V, et al. A novel activating, germline JAK2 mutation, JAK2R564Q, causes familial essential thrombocytosis. Blood. 2014;123(7):1059-1068.
    • (2014) Blood. , vol.123 , Issue.7 , pp. 1059-1068
    • Etheridge, S.L.1    Cosgrove, M.E.2    Sangkhae, V.3
  • 17
    • 84899696697 scopus 로고    scopus 로고
    • Germ-line JAK2 mutations in the kinase domain are responsible for hereditary thrombocytosis and are resistant to JAK2 and HSP90 inhibitors
    • Marty C, Saint-Martin C, Pecquet C, et al. Germ-line JAK2 mutations in the kinase domain are responsible for hereditary thrombocytosis and are resistant to JAK2 and HSP90 inhibitors. Blood. 2014;123(9):1372-1383.
    • (2014) Blood. , vol.123 , Issue.9 , pp. 1372-1383
    • Marty, C.1    Saint-Martin, C.2    Pecquet, C.3
  • 18
    • 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
  • 19
    • 85015256474 scopus 로고    scopus 로고
    • Cooperation of germline JAK2 mutations E846D and R1063H in hereditary erythrocytosis with megakaryocytic atypia
    • Kapralova K, Horvathova M, Pecquet C, et al. Cooperation of germline JAK2 mutations E846D and R1063H in hereditary erythrocytosis with megakaryocytic atypia. Blood. 2016;128(10):1418-1423.
    • (2016) Blood. , vol.128 , Issue.10 , pp. 1418-1423
    • Kapralova, K.1    Horvathova, M.2    Pecquet, C.3
  • 20
    • 76549088588 scopus 로고    scopus 로고
    • A regulating role of the JAK2 FERM domain in hyperactivation of JAK2(V617F)
    • Zhao L, Ma Y, Seemann J, Huang LJ. A regulating role of the JAK2 FERM domain in hyperactivation of JAK2(V617F). Biochem J. 2010;426(1):91-98.
    • (2010) Biochem J. , vol.426 , Issue.1 , pp. 91-98
    • Zhao, L.1    Ma, Y.2    Seemann, J.3    Huang, L.J.4
  • 21
    • 40749093314 scopus 로고    scopus 로고
    • Jak2 FERM domain interaction with the erythropoietin receptor regulates Jak2 kinase activity
    • Funakoshi-Tago M, Pelletier S, Moritake H, Parganas E, Ihle JN. Jak2 FERM domain interaction with the erythropoietin receptor regulates Jak2 kinase activity. Mol Cell Biol. 2008;28(5):1792-1801.
    • (2008) Mol Cell Biol. , vol.28 , Issue.5 , pp. 1792-1801
    • Funakoshi-Tago, M.1    Pelletier, S.2    Moritake, H.3    Parganas, E.4    Ihle, J.N.5
  • 22
    • 84872045419 scopus 로고    scopus 로고
    • Lack of JAK2 activating non-synonymous mutations in diffuse large B-cell tumors: JAK2 deregulation still unexplained
    • Witzig TE, Price-Troska TL, Stenson MJ, Gupta M. Lack of JAK2 activating non-synonymous mutations in diffuse large B-cell tumors: JAK2 deregulation still unexplained. Leuk Lymphoma. 2013;54(2):397-399.
    • (2013) Leuk Lymphoma. , vol.54 , Issue.2 , pp. 397-399
    • Witzig, T.E.1    Price-Troska, T.L.2    Stenson, M.J.3    Gupta, M.4
  • 23
    • 84918499389 scopus 로고    scopus 로고
    • Discrepancies in cancer genomic sequencing highlight opportunities for driver mutation discovery
    • Hudson AM, Yates T, Li Y, et al. Discrepancies in cancer genomic sequencing highlight opportunities for driver mutation discovery. Cancer Res. 2014;74(22): 6390-6396.
    • (2014) Cancer Res. , vol.74 , Issue.22 , pp. 6390-6396
    • Hudson, A.M.1    Yates, T.2    Li, Y.3
  • 24
    • 63449134208 scopus 로고    scopus 로고
    • A common JAK2 haplotype confers susceptibility to myeloproliferative neoplasms
    • Olcaydu D, Harutyunyan A, Jäger R, et al. A common JAK2 haplotype confers susceptibility to myeloproliferative neoplasms. Nat Genet. 2009;41(4):450-454.
    • (2009) Nat Genet. , vol.41 , Issue.4 , pp. 450-454
    • Olcaydu, D.1    Harutyunyan, A.2    Jäger, R.3
  • 25
    • 0026347205 scopus 로고
    • Characterization of the promoter of the human gene encoding the high-affinity IgG receptor: Transcriptional induction by gamma-interferon is mediated through common DNA response elements
    • Pearse RN, Feinman R, Ravetch JV. Characterization of the promoter of the human gene encoding the high-affinity IgG receptor: transcriptional induction by gamma-interferon is mediated through common DNA response elements. Proc Natl Acad Sci USA. 1991;88(24):11305-11309.
    • (1991) Proc Natl Acad Sci USA. , vol.88 , Issue.24 , pp. 11305-11309
    • Pearse, R.N.1    Feinman, R.2    Ravetch, J.V.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.