메뉴 건너뛰기




Volumn 68, Issue 1, 2013, Pages 5-9

Evaluation of the association between the JAK2 46/1 haplotype and chronic myeloproliferative neoplasms in a Brazilian population

Author keywords

Haplotype; JAK2 human; Myeloproliferative disorders

Indexed keywords

BCR ABL PROTEIN; JAK2 PROTEIN, HUMAN; JANUS KINASE 2;

EID: 84874138259     PISSN: 18075932     EISSN: None     Source Type: Journal    
DOI: 10.6061/clinics/2013(01)OA02     Document Type: Article
Times cited : (12)

References (21)
  • 2
    • 21344467318 scopus 로고    scopus 로고
    • Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders
    • Jones AV, Kreil S, Zoi K, Waghorn K, Curtis C, Zhang L, et al. Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. Blood. 2005;106(6):2162-8.
    • (2005) Blood , vol.106 , Issue.6 , pp. 2162-2168
    • Jones, A.V.1    Kreil, S.2    Zoi, K.3    Waghorn, K.4    Curtis, C.5    Zhang, L.6
  • 3
    • 20144363192 scopus 로고    scopus 로고
    • Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders
    • Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, Swanton S, et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. The Lancet. 2005;365(9464):1054-61.
    • (2005) The Lancet , vol.365 , Issue.9464 , pp. 1054-1061
    • Baxter, E.J.1    Scott, L.M.2    Campbell, P.J.3    East, C.4    Fourouclas, N.5    Swanton, S.6
  • 5
    • 17844383458 scopus 로고    scopus 로고
    • A unique clonal JAK2 mutation leading to constitutive signaling causes polycithemia vera
    • James C, Ugo V, Le Couedic JP, Staerk J, Delhommeau F, Lacout C. et al. A unique clonal JAK2 mutation leading to constitutive signaling causes polycithemia vera. Nature. 2005;434(7037):1144-8.
    • (2005) Nature , vol.434 , Issue.7037 , pp. 1144-1148
    • James, C.1    Ugo, V.2    Le Couedic, J.P.3    Staerk, J.4    Delhommeau, F.5    Lacout, C.6
  • 6
    • 0034693871 scopus 로고    scopus 로고
    • Janus kinases: Components of multiple signaling pathways
    • Rane SG, Reddy EP. Janus kinases: components of multiple signaling pathways. Oncogene. 2000;19(49):5662-79.
    • (2000) Oncogene , vol.19 , Issue.49 , pp. 5662-5679
    • Rane, S.G.1    Reddy, E.P.2
  • 7
    • 80053555548 scopus 로고    scopus 로고
    • Molecular approach to diagnose BCR/ABL negative chronic myeloproliferative neoplasms
    • Barcelos MM, Santos-Silva MC. Molecular approach to diagnose BCR/ABL negative chronic myeloproliferative neoplasms. Rev Bras Hematol Hemoter. 2011;33(4):290-6.
    • (2011) Rev Bras Hematol Hemoter , vol.33 , Issue.4 , pp. 290-296
    • Barcelos, M.M.1    Santos-Silva, M.C.2
  • 8
    • 33745623666 scopus 로고    scopus 로고
    • Genetic and clinical implications of the Val617Phe JAK2 mutation in 72 families with myeloproliferative disorders
    • Bellané-Chantelot C, Chaumarel I, Labopin M, Bellanger F, Barbu V, De Toma C, et al. Genetic and clinical implications of the Val617Phe JAK2 mutation in 72 families with myeloproliferative disorders. Blood. 2006; 108(1):346-52.
    • (2006) Blood , vol.108 , Issue.1 , pp. 346-352
    • Bellané-Chantelot, C.1    Chaumarel, I.2    Labopin, M.3    Bellanger, F.4    Barbu, V.5    De Toma, C.6
  • 9
    • 54049129782 scopus 로고    scopus 로고
    • Increasead risk of polycythemia vera, essential thrombocythemia, and myelofibrosis among 24577 first-degree relatives of 11039 patients with myeloproliferative neoplasms in Sweden
    • Landgren O, Goldin LR, Kristinsson SY, Helgadottir EA, Samuelsson J, Björkholm M. Increasead risk of polycythemia vera, essential thrombocythemia, and myelofibrosis among 24577 first-degree relatives of 11039 patients with myeloproliferative neoplasms in Sweden. Blood. 2008;112(6):2199-04.
    • (2008) Blood , vol.112 , Issue.6 , pp. 2199-2204
    • Landgren, O.1    Goldin, L.R.2    Kristinsson, S.Y.3    Helgadottir, E.A.4    Samuelsson, J.5    Björkholm, M.6
  • 10
    • 41949128334 scopus 로고    scopus 로고
    • Host genetic variation contributes to phenotypic diversity in myeloproliferative disorders
    • Pardanani A, Fridley BL, Lasho TL, Gilliland DG, Tefferi A. Host genetic variation contributes to phenotypic diversity in myeloproliferative disorders. Blood. 2008;111(5):2785-9.
    • (2008) Blood , vol.111 , Issue.5 , pp. 2785-2789
    • Pardanani, A.1    Fridley, B.L.2    Lasho, T.L.3    Gilliland, D.G.4    Tefferi, A.5
  • 11
    • 63449099560 scopus 로고    scopus 로고
    • JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms
    • Jones AV, Chase A, Silver RT, Oscier D, Zoi K, Wang YL, et al. JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms. Nat Genet. 2009;41(4):446-9.
    • (2009) Nat Genet , vol.41 , Issue.4 , pp. 446-449
    • Jones, A.V.1    Chase, A.2    Silver, R.T.3    Oscier, D.4    Zoi, K.5    Wang, Y.L.6
  • 12
    • 63449127583 scopus 로고    scopus 로고
    • A germline JAK2 SNP is associated with predisposition to the development of JAK2 V617F-positive myeloproliferative neoplasms
    • Kilpivaara O, Mukherjee S, Schram AM, Wadleigh M, Mullally A, Ebert BL, et al. A germline JAK2 SNP is associated with predisposition to the development of JAK2 V617F-positive myeloproliferative neoplasms. Nat Genet. 2009;41(4):455-9.
    • (2009) Nat Genet , vol.41 , Issue.4 , pp. 455-459
    • Kilpivaara, O.1    Mukherjee, S.2    Schram, A.M.3    Wadleigh, M.4    Mullally, A.5    Ebert, B.L.6
  • 13
    • 54949104002 scopus 로고    scopus 로고
    • A mutação JAK2 V617F e as síndromes mieloproliferativas
    • Monte-Mór BCR, Costa FF. A mutação JAK2 V617F e as síndromes mieloproliferativas. Rev Bras Hematol Hemoter. 2008;30(3):241-8.
    • (2008) Rev Bras Hematol Hemoter , vol.30 , Issue.3 , pp. 241-248
    • Monte-Mór, B.C.R.1    Costa, F.F.2
  • 14
    • 34547545513 scopus 로고    scopus 로고
    • JAK2 V617F prevalence in Brazilian patients with polycythemia vera, idiopathic myelofibrosis and essential thrombocythemia
    • Monte-Mór BCR, Cunha AF, Pagnano KBB, Saad ST, Lorand-Metze I, Costa FF. JAK2 V617F prevalence in Brazilian patients with polycythemia vera, idiopathic myelofibrosis and essential thrombocythemia. Genet Mol Biol. 2007;30(2):336-8.
    • (2007) Genet Mol Biol , vol.30 , Issue.2 , pp. 336-338
    • Monte-Mór, B.C.R.1    Cunha, A.F.2    Pagnano, K.B.B.3    Saad, S.T.4    Lorand-Metze, I.5    Costa, F.F.6
  • 15
    • 72049120980 scopus 로고    scopus 로고
    • Development of a reliable PCR-RFLP assay for investigation of the JAK2 rs10974944 SNP, which might predispose to the acquisition of somatic mutation JAK2 V617F
    • Trifa AP, Cucuianu A, Popp RA. Development of a reliable PCR-RFLP assay for investigation of the JAK2 rs10974944 SNP, which might predispose to the acquisition of somatic mutation JAK2 V617F. Acta Haematol. 2010;123(2):84-7.
    • (2010) Acta Haematol , vol.123 , Issue.2 , pp. 84-87
    • Trifa, A.P.1    Cucuianu, A.2    Popp, R.A.3
  • 16
    • 77956681963 scopus 로고    scopus 로고
    • The G allele of the JAK2 rs10974944 SNP, part of the JAK2 46/1 haplotype, is strongly associated with JAK2 V617F-positive myeloproliferative neoplasms
    • Trifa AP, Cucuianu A, Ljubomir P, Urian L, Militaru MS, Dima D, et al. The G allele of the JAK2 rs10974944 SNP, part of the JAK2 46/1 haplotype, is strongly associated with JAK2 V617F-positive myeloproliferative neoplasms. Ann Hematol. 2010;89(10):979-83.
    • (2010) Ann Hematol , vol.89 , Issue.10 , pp. 979-983
    • Trifa, A.P.1    Cucuianu, A.2    Ljubomir, P.3    Urian, L.4    Militaru, M.S.5    Dima, D.6
  • 17
    • 70350111160 scopus 로고    scopus 로고
    • The 'GGCC' haplotype of JAK2 confers susceptibility to JAK2 exon 12 mutation-positive polycythemia vera
    • Olcaydu D, Skoda RC, Looser R, Li S, Cazzola M, Pietra D, et al. The 'GGCC' haplotype of JAK2 confers susceptibility to JAK2 exon 12 mutation-positive polycythemia vera. Leukemia. 2009;23(10):1924-6.
    • (2009) Leukemia , vol.23 , Issue.10 , pp. 1924-1926
    • Olcaydu, D.1    Skoda, R.C.2    Looser, R.3    Li, S.4    Cazzola, M.5    Pietra, D.6
  • 18
    • 77953431645 scopus 로고    scopus 로고
    • Germline and somatic JAK2 mutations and susceptibility to chronic myeloproliferative neoplasms
    • Goldin LR, Bjorkholm M, Kristinsson SY, Samuelsson J, Landgren O. Germline and somatic JAK2 mutations and susceptibility to chronic myeloproliferative neoplasms. Genome Medicine. 2009;1(5):55-5.
    • (2009) Genome Medicine , vol.1 , Issue.5 , pp. 55
    • Goldin, L.R.1    Bjorkholm, M.2    Kristinsson, S.Y.3    Samuelsson, J.4    Landgren, O.5
  • 19
    • 84855811384 scopus 로고    scopus 로고
    • The C allele of JAK2 rs4495487 is an additional candidate locus that contributes to myeloproliferative neoplasm predisposition in the Japanese population
    • Ohyashiki JH, Yoneta M, Hisatomi H, Iwabuchi T, Umezu T, Ohyashiki K. The C allele of JAK2 rs4495487 is an additional candidate locus that contributes to myeloproliferative neoplasm predisposition in the Japanese population. BMC Med Genet. 2012;17:13-6.
    • (2012) BMC Med Genet , vol.17 , pp. 13-16
    • Ohyashiki, J.H.1    Yoneta, M.2    Hisatomi, H.3    Iwabuchi, T.4    Umezu, T.5    Ohyashiki, K.6
  • 20
    • 84871858921 scopus 로고    scopus 로고
    • Relationship between V617F mutation and 46/1 haplotype in JAK2 gene in patients with chronic myeloproliferative diseases and frequencies of 46/1 haplotype in different Chinese nationalities
    • Tian ZQ, Zhu P, Liu HX, Chen Y, Wang F, Zhang Y, Teng W, et al. Relationship between V617F mutation and 46/1 haplotype in JAK2 gene in patients with chronic myeloproliferative diseases and frequencies of 46/1 haplotype in different Chinese nationalities. Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2012;20(2):362-7.
    • (2012) Zhongguo Shi Yan Xue Ye Xue Za Zhi , vol.20 , Issue.2 , pp. 362-367
    • Tian, Z.Q.1    Zhu, P.2    Liu, H.X.3    Chen, Y.4    Wang, F.5    Zhang, Y.6    Teng, W.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.