메뉴 건너뛰기




Volumn 127, Issue 3, 2016, Pages 362-365

Germline RBBP6 mutations in familial myeloproliferative neoplasms

(24)  Harutyunyan, Ashot S a   Giambruno, Roberto a   Krendl, Christian a   Stukalov, Alexey a   Klampfl, Thorsten a   Berg, Tiina a   Chen, Doris a   Feenstra, Jelena D Milosevic a   Jäger, Roland a   Gisslinger, Bettina b   Gisslinger, Heinz b   Rumi, Elisa c   Passamonti, Francesco d   Pietra, Daniela c   Müller, Andŕe C a   Parapatics, Katja a   Breitwieser, Florian P a   Herrmann, Richard e   Colinge, Jacques a   Bennett, Keiryn L a   more..


Author keywords

[No Author keywords available]

Indexed keywords

DISEASE PREDISPOSITION; FAMILIAL CANCER; FAMILY HISTORY; GENE; GERMLINE MUTATION; HUMAN; LETTER; MYELOPROLIFERATIVE NEOPLASM; PEDIGREE; PRIORITY JOURNAL; RBBP6 GENE; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; GENETICS; MALE; MYELOPROLIFERATIVE DISORDERS;

EID: 84958205839     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2015-09-668673     Document Type: Letter
Times cited : (48)

References (25)
  • 1
    • 0242493826 scopus 로고    scopus 로고
    • Clonal hematopoiesis in familial polycythemia vera suggests the involvement of multiple mutational events in the early pathogenesis of the disease
    • Kralovics R, Stockton DW, Prchal JT. Clonal hematopoiesis in familial polycythemia vera suggests the involvement of multiple mutational events in the early pathogenesis of the disease. Blood. 2003;102(10):3793-3796.
    • (2003) Blood , vol.102 , Issue.10 , pp. 3793-3796
    • Kralovics, R.1    Stockton, D.W.2    Prchal, J.T.3
  • 2
    • 33750515447 scopus 로고    scopus 로고
    • JAK2 (V617F) as an acquired somatic mutation and a secondary genetic event associated with disease progression in familial myeloproliferative disorders
    • Rumi E, Passamonti F, Pietra D, et al. JAK2 (V617F) as an acquired somatic mutation and a secondary genetic event associated with disease progression in familial myeloproliferative disorders. Cancer. 2006;107(9):2206-2211.
    • (2006) Cancer , vol.107 , Issue.9 , pp. 2206-2211
    • Rumi, E.1    Passamonti, F.2    Pietra, D.3
  • 3
    • 33745623666 scopus 로고    scopus 로고
    • Genetic and clinical implications of the Val617Phe JAK2 mutation in 72 families with myeloproliferative disorders
    • Bellanńe-Chantelot C, Chaumarel I, Labopin M, et al. Genetic and clinical implications of the Val617Phe JAK2 mutation in 72 families with myeloproliferative disorders. Blood. 2006;108(1):346-352.
    • (2006) Blood , vol.108 , Issue.1 , pp. 346-352
    • Bellanńe-Chantelot, C.1    Chaumarel, I.2    Labopin, M.3
  • 4
    • 54049129782 scopus 로고    scopus 로고
    • Increased risks of polycythemia vera, essential thrombocythemia, and myelofibrosis among 24, 577 first-degree relatives of 11, 039 patients with myeloproliferative neoplasms in Sweden
    • Landgren O, Goldin LR, Kristinsson SY, Helgadottir EA, Samuelsson J, Björkholm M. Increased risks of polycythemia vera, essential thrombocythemia, and myelofibrosis among 24, 577 first-degree relatives of 11, 039 patients with myeloproliferative neoplasms in Sweden. Blood. 2008;112(6):2199-2204.
    • (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
  • 5
    • 17844383458 scopus 로고    scopus 로고
    • A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera
    • James C, Ugo V, Le Coúedic JP, et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature. 2005;434(7037): 1144-1148.
    • (2005) Nature , vol.434 , Issue.7037 , pp. 1144-1148
    • James, C.1    Ugo, V.2    Le Coúedic, J.P.3
  • 6
    • 17644424955 scopus 로고    scopus 로고
    • A gain-of-function mutation of JAK2 in myeloproliferative disorders
    • Kralovics R, Passamonti F, Buser AS, et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med. 2005;352(17):1779-1790.
    • (2005) N Engl J Med , vol.352 , Issue.17 , pp. 1779-1790
    • Kralovics, R.1    Passamonti, F.2    Buser, A.S.3
  • 7
    • 33746437130 scopus 로고    scopus 로고
    • MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia
    • Pikman Y, Lee BH, Mercher T, et al. MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. PLoS Med. 2006;3(7):e270.
    • (2006) PLoS Med , vol.3 , Issue.7 , pp. e270
    • Pikman, Y.1    Lee, B.H.2    Mercher, T.3
  • 8
    • 84890372480 scopus 로고    scopus 로고
    • Somatic mutations of calreticulin in myeloproliferative neoplasms
    • Klampfl T, Gisslinger H, Harutyunyan AS, et al. Somatic mutations of calreticulin in myeloproliferative neoplasms. N Engl J Med. 2013;369(25):2379-2390.
    • (2013) N Engl J Med , vol.369 , Issue.25 , pp. 2379-2390
    • Klampfl, T.1    Gisslinger, H.2    Harutyunyan, A.S.3
  • 9
    • 84890328032 scopus 로고    scopus 로고
    • Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2
    • Nangalia J, Massie CE, Baxter EJ, et al. Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2. N Engl J Med. 2013; 369(25):2391-2405.
    • (2013) N Engl J Med , vol.369 , Issue.25 , pp. 2391-2405
    • Nangalia, J.1    Massie, C.E.2    Baxter, E.J.3
  • 10
    • 84902097145 scopus 로고    scopus 로고
    • Somatic mutations in calreticulin can be found in pedigrees with familial predisposition to myeloproliferative neoplasms
    • Lundberg P, Nienhold R, Ambrosetti A, Cervantes F, Pérez-Encinas MM, Skoda RC. Somatic mutations in calreticulin can be found in pedigrees with familial predisposition to myeloproliferative neoplasms. Blood. 2014;123(17): 2744-2745.
    • (2014) Blood , vol.123 , Issue.17 , pp. 2744-2745
    • Lundberg, P.1    Nienhold, R.2    Ambrosetti, A.3    Cervantes, F.4    Pérez-Encinas, M.M.5    Skoda, R.C.6
  • 11
    • 84902073565 scopus 로고    scopus 로고
    • Looking for CALR mutations in familial myeloproliferative neoplasms
    • Maffioli M, Genoni A, Caramazza D, et al. Looking for CALR mutations in familial myeloproliferative neoplasms. Leukemia. 2014;28(6):1357-1360.
    • (2014) Leukemia , vol.28 , Issue.6 , pp. 1357-1360
    • Maffioli, M.1    Genoni, A.2    Caramazza, D.3
  • 12
    • 84901777448 scopus 로고    scopus 로고
    • CALR exon 9 mutations are somatically acquired events in familial cases of essential thrombocythemia or primary myelofibrosis
    • Associazione Italiana per la Ricerca sul Cancro Gruppo Italiano Malattie Mieloproliferative Investigators
    • Rumi E, Harutyunyan AS, Pietra D, et al; Associazione Italiana per la Ricerca sul Cancro Gruppo Italiano Malattie Mieloproliferative Investigators. CALR exon 9 mutations are somatically acquired events in familial cases of essential thrombocythemia or primary myelofibrosis. Blood. 2014;123(15):2416-2419.
    • (2014) Blood , vol.123 , Issue.15 , pp. 2416-2419
    • Rumi, E.1    Harutyunyan, A.S.2    Pietra, D.3
  • 13
    • 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
  • 14
    • 78649906060 scopus 로고    scopus 로고
    • DNMT3A mutations in acute myeloid leukemia
    • Ley TJ, Ding L, Walter MJ, et al. DNMT3A mutations in acute myeloid leukemia. N Engl J Med. 2010;363(25):2424-2433.
    • (2010) N Engl J Med , vol.363 , Issue.25 , pp. 2424-2433
    • Ley, T.J.1    Ding, L.2    Walter, M.J.3
  • 15
    • 70450239681 scopus 로고    scopus 로고
    • Mutations of ASXL1 gene in myeloproliferative neoplasms
    • Carbuccia N, Murati A, Trouplin V, et al. Mutations of ASXL1 gene in myeloproliferative neoplasms. Leukemia. 2009;23(11):2183-2186.
    • (2009) Leukemia , vol.23 , Issue.11 , pp. 2183-2186
    • Carbuccia, N.1    Murati, A.2    Trouplin, V.3
  • 16
    • 79952322394 scopus 로고    scopus 로고
    • The role of the JAK2 GGCC haplotype and the TET2 gene in familial myeloproliferative neoplasms
    • Olcaydu D, Rumi E, Harutyunyan A, et al. The role of the JAK2 GGCC haplotype and the TET2 gene in familial myeloproliferative neoplasms. Haematologica. 2011;96(3):367-374.
    • (2011) Haematologica , vol.96 , Issue.3 , pp. 367-374
    • Olcaydu, D.1    Rumi, E.2    Harutyunyan, A.3
  • 17
    • 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
  • 18
    • 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
  • 19
    • 84939127342 scopus 로고    scopus 로고
    • Common germline variation at the TERT locus contributes to familial clustering of myeloproliferative neoplasms
    • Jäger R, Harutyunyan AS, Rumi E, et al. Common germline variation at the TERT locus contributes to familial clustering of myeloproliferative neoplasms. Am J Hematol. 2014;89(12):1107-1110.
    • (2014) Am J Hematol , vol.89 , Issue.12 , pp. 1107-1110
    • Jäger, R.1    Harutyunyan, A.S.2    Rumi, E.3
  • 20
    • 84902113651 scopus 로고    scopus 로고
    • The germline sequence variant rs2736100°C in TERT associates with myeloproliferative neoplasms
    • Oddsson A, Kristinsson SY, Helgason H, et al. The germline sequence variant rs2736100°C in TERT associates with myeloproliferative neoplasms. Leukemia. 2014;28(6):1371-1374.
    • (2014) Leukemia , vol.28 , Issue.6 , pp. 1371-1374
    • Oddsson, A.1    Kristinsson, S.Y.2    Helgason, H.3
  • 21
    • 84927153553 scopus 로고    scopus 로고
    • Genetic variation at MECOM, TERT, JAK2 and HBS1L-MYB predisposes to myeloproliferative neoplasms
    • Tapper W, Jones AV, Kralovics R, et al. Genetic variation at MECOM, TERT, JAK2 and HBS1L-MYB predisposes to myeloproliferative neoplasms. Nat Commun. 2015;6:6691.
    • (2015) Nat Commun , vol.6 , pp. 6691
    • Tapper, W.1    Jones, A.V.2    Kralovics, R.3
  • 22
    • 34249933682 scopus 로고    scopus 로고
    • PACT is a negative regulator of p53 and essential for cell growth and embryonic development
    • Li L, Deng B, Xing G, et al. PACT is a negative regulator of p53 and essential for cell growth and embryonic development. Proc Natl Acad Sci USA. 2007; 104(19):7951-7956.
    • (2007) Proc Natl Acad Sci USA , vol.104 , Issue.19 , pp. 7951-7956
    • Li, L.1    Deng, B.2    Xing, G.3
  • 23
    • 0023106062 scopus 로고
    • Human retinoblastoma susceptibility gene: Cloning, identification, and sequence
    • Lee WH, Bookstein R, Hong F, Young LJ, Shew JY, Lee EY. Human retinoblastoma susceptibility gene: cloning, identification, and sequence. Science. 1987;235(4794):1394-1399.
    • (1987) Science , vol.235 , Issue.4794 , pp. 1394-1399
    • Lee, W.H.1    Bookstein, R.2    Hong, F.3    Young, L.J.4    Shew, J.Y.5    Lee, E.Y.6
  • 24
    • 0025297599 scopus 로고
    • Type 1 neurofibromatosis gene: Identification of a large transcript disrupted in three NF1 patients
    • Wallace MR, Marchuk DA, Andersen LB, et al. Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. Science. 1990;249(4965):181-186.
    • (1990) Science , vol.249 , Issue.4965 , pp. 181-186
    • Wallace, M.R.1    Marchuk, D.A.2    Andersen, L.B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.