메뉴 건너뛰기




Volumn 101, Issue 11, 2016, Pages 1333-1342

Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia

(22)  Melazzini, Federica a   Palombo, Flavia b   Balduini, Alessandra c,d   De Rocco, Daniela e   Marconi, Caterina b   Noris, Patrizia a   Gnan, Chiara e   Pippucci, Tommaso b   Bozzi, Valeria a   Faleschini, Michela e   Barozzi, Serena a   Doubek, Michael f   Di Buduo, Christian A c   Kozubik, Katerina Stano g   Radova, Lenka g   Loffredo, Giuseppe h   Pospisilova, Sarka g   Alfano, Caterina i   Seri, Marco b   Balduini, Carlo L a   more..


Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE DIPHOSPHATE; COLLAGEN; FIBRINOGEN; GLYCOPROTEIN; RISTOCETIN; TRANSCRIPTION FACTOR ETV6; TRANSCRIPTION FACTOR RUNX1; VON WILLEBRAND FACTOR; ANKRD26 PROTEIN, HUMAN; NUCLEAR PROTEIN; REPRESSOR PROTEIN; RUNX1 PROTEIN, HUMAN; TRANSCRIPTION FACTOR ETS;

EID: 84994654361     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2016.147496     Document Type: Article
Times cited : (80)

References (26)
  • 1
    • 84959857748 scopus 로고    scopus 로고
    • Diagnosis and treatment of inherited thrombocytopenias
    • Pecci A. Diagnosis and treatment of inherited thrombocytopenias. Clin Genet. 2016; 89 (2): 141-153.
    • (2016) Clin Genet , vol.89 , Issue.2 , pp. 141-153
    • Pecci, A.1
  • 2
    • 84964253123 scopus 로고    scopus 로고
    • Molecular basis of inherited thrombocytopenias
    • Savoia A. Molecular basis of inherited thrombocytopenias. Clin Genet. 2016: 89 (2): 154-162.
    • (2016) Clin Genet , vol.89 , Issue.2 , pp. 154-162
    • Savoia, A.1
  • 3
    • 84951304790 scopus 로고    scopus 로고
    • Germline genetic variation in ETV6 and risk of childhood acute lymphoblastic leukaemia: A systematic genetic study
    • Moriyama T, Metzger ML, Wu G, et al. Germline genetic variation in ETV6 and risk of childhood acute lymphoblastic leukaemia: a systematic genetic study. Lancet Oncol. 2015; 16 (16): 1659-1666.
    • (2015) Lancet Oncol , vol.16 , Issue.16 , pp. 1659-1666
    • Moriyama, T.1    Metzger, M.L.2    Wu, G.3
  • 4
    • 84929130522 scopus 로고    scopus 로고
    • Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia
    • Noetzli L, Lo RW, Lee-Sherick AB, et al. Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia. Nat Genet. 2015; 47 (5): 535-538.
    • (2015) Nat Genet , vol.47 , Issue.5 , pp. 535-538
    • Noetzli, L.1    Lo, R.W.2    Lee-Sherick, A.B.3
  • 5
    • 84937779216 scopus 로고    scopus 로고
    • Germline ETV6 mutations confer susceptibility to acute lymphoblastic leukemia and thrombocytopenia
    • Topka S, Vijai J, Walsh MF, et al. Germline ETV6 mutations confer susceptibility to acute lymphoblastic leukemia and thrombocytopenia. PLoS Genet. 2015; 11 (6): e1005262.
    • (2015) Plos Genet. , vol.11 , Issue.6
    • Topka, S.1    Vijai, J.2    Walsh, M.F.3
  • 6
    • 84926216729 scopus 로고    scopus 로고
    • Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy
    • Zhang MY, Churpek JE, Keel SB, et al. Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. Nat Genet. 2015; 47 (2): 180-185.
    • (2015) Nat Genet , vol.47 , Issue.2 , pp. 180-185
    • Zhang, M.Y.1    Churpek, J.E.2    Keel, S.B.3
  • 7
    • 84883786964 scopus 로고    scopus 로고
    • Utility of the ISTH bleeding assessment tool in predicting platelet defects in participants with suspected inherited platelet function disorders
    • Lowe GC, Lordkipanidzé M, Watson SP. Utility of the ISTH bleeding assessment tool in predicting platelet defects in participants with suspected inherited platelet function disorders. J Thromb Haemost. 2013; 11 (9): 1663-1668.
    • (2013) J Thromb Haemost , vol.11 , Issue.9 , pp. 1663-1668
    • Lowe, G.C.1    Lordkipanidzé, M.2    Watson, S.P.3
  • 8
    • 84905718594 scopus 로고    scopus 로고
    • Platelet diameters in inherited thrombocytopenias: Analysis of 376 patients with all known disorders
    • Noris P, Biino G, Pecci A, et al. Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders. Blood. 2014; 124 (6): e4-e10.
    • (2014) Blood , vol.124 , Issue.6 , pp. ee4-e10
    • Noris, P.1    Biino, G.2    Pecci, A.3
  • 9
    • 33645545140 scopus 로고    scopus 로고
    • Autosomal dominant thrombocytopenias with reduced expression of glycoprotein Ia
    • Noris P, Guidetti GF, Conti V, et al. Autosomal dominant thrombocytopenias with reduced expression of glycoprotein Ia. Thromb Haemost. 2006; 95 (3): 483-489.
    • (2006) Thromb Haemost , vol.95 , Issue.3 , pp. 483-489
    • Noris, P.1    Guidetti, G.F.2    Conti, V.3
  • 10
    • 84860324484 scopus 로고    scopus 로고
    • In vivo effects of eltrombopag on platelet function in immune thrombocytopenia: No evidence of platelet activation
    • Psaila B, Bussel JB, Linden MD, et al. In vivo effects of eltrombopag on platelet function in immune thrombocytopenia: no evidence of platelet activation. Blood. 2012; 119 (17): 4066-4072.
    • (2012) Blood , vol.119 , Issue.17 , pp. 4066-4072
    • Psaila, B.1    Bussel, J.B.2    Linden, M.D.3
  • 11
    • 80053205810 scopus 로고    scopus 로고
    • Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells
    • Pecci A, Bozzi V, Panza E, et al. Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells. Thromb Haemost. 2011; 106 (4): 693-704.
    • (2011) Thromb Haemost , vol.106 , Issue.4 , pp. 693-704
    • Pecci, A.1    Bozzi, V.2    Panza, E.3
  • 12
    • 84881478301 scopus 로고    scopus 로고
    • Immobilized amyloid A peptides support platelet adhesion and activation
    • Canobbio I, Catricalà S, Di Pasqua LG, et al. Immobilized amyloid A peptides support platelet adhesion and activation. FEBS Lett. 2013; 587 (16): 2606-2611.
    • (2013) EBS Lett. , vol.87 , Issue.16 , pp. 606-2611
    • Canobbio, I.1    Catricalà, S.2    Di Pasqua, L.G.3
  • 13
    • 67749093040 scopus 로고    scopus 로고
    • Megakaryocytes of patients with MYH9-related thrombocytopenia present an altered proplatelet formation
    • Pecci A, Malara A, Badalucco S, et al. Megakaryocytes of patients with MYH9-related thrombocytopenia present an altered proplatelet formation. Thromb Haemost. 2009; 102 (1): 90-96.
    • (2009) Thromb Haemost , vol.102 , Issue.1 , pp. 90-96
    • Pecci, A.1    Malara, A.2    Badalucco, S.3
  • 14
    • 84893875673 scopus 로고    scopus 로고
    • Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation
    • Bluteau D, Balduini A, Balayn N, et al. Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation. J Clin Invest. 2014; 124 (2): 580-591.
    • (2014) J Clin Invest , vol.124 , Issue.2 , pp. 580-591
    • Bluteau, D.1    Balduini, A.2    Balayn, N.3
  • 15
    • 84868556701 scopus 로고    scopus 로고
    • Constitutively released adenosine diphosphate regulates proplatelet formation by human megakaryocytes
    • Balduini A, Di Buduo CA, Malara A, et al. Constitutively released adenosine diphosphate regulates proplatelet formation by human megakaryocytes. Haematologica. 2012; 97 (11): 1657-1665.
    • (2012) Haematologica , vol.97 , Issue.11 , pp. 1657-1665
    • Balduini, A.1    Di Buduo, C.A.2    Malara, A.3
  • 16
    • 84897462986 scopus 로고    scopus 로고
    • The importance of calcium in the regulation of megakaryocyte function
    • Di Buduo CA, Moccia F, Battiston M, et al. The importance of calcium in the regulation of megakaryocyte function. Haematologica. 2014; 99 (4): 769-778.
    • (2014) Haematologica , vol.99 , Issue.4 , pp. 769-778
    • Di Buduo, C.A.1    Moccia, F.2    Battiston, M.3
  • 17
    • 85007273575 scopus 로고    scopus 로고
    • National Cancer Institute. Cancer statistics. Available at: www.seer.cancer.gov/statistics/. Accessed December 20, 2015.
  • 18
    • 4644274431 scopus 로고    scopus 로고
    • Tel/Etv6 is an essential and selective regulator of adult hematopoietic stem cell survival
    • Hock H, Meade E, Medeiros S, et al. Tel/Etv6 is an essential and selective regulator of adult hematopoietic stem cell survival. Genes Dev. 2004; 18 (19): 2336-2341.
    • (2004) Genes Dev , vol.18 , Issue.19 , pp. 2336-2341
    • Hock, H.1    Meade, E.2    Medeiros, S.3
  • 19
    • 17044429678 scopus 로고    scopus 로고
    • ETV6: A versatile player in leukemogenesis
    • Bohlander SK. ETV6: a versatile player in leukemogenesis. Semin Cancer Biol. 2005; 15 (3): 162-174.
    • (2005) Semin Cancer Biol , vol.15 , Issue.3 , pp. 162-174
    • Bohlander, S.K.1
  • 21
    • 84907483015 scopus 로고    scopus 로고
    • ETV6 mutation in a cohort of 970 patients with hematologic malignancies
    • Wang Q, Dong S, Yao H, et al. ETV6 mutation in a cohort of 970 patients with hematologic malignancies. Haematologica. 2014; 99 (10): e176-178.
    • (2014) Haematologica , vol.99 , Issue.10 , pp. e176-e178
    • Wang, Q.1    Dong, S.2    Yao, H.3
  • 22
    • 84887332514 scopus 로고    scopus 로고
    • ANKRD26-related thrombocytopenia and myeloid malignancies
    • Noris P, Favier R, Alessi MC, et al. ANKRD26-related thrombocytopenia and myeloid malignancies. Blood. 2013; 122 (11): 1987-1989.
    • (2013) Blood , vol.122 , Issue.11 , pp. 1987-1989
    • Noris, P.1    Favier, R.2    Alessi, M.C.3
  • 23
    • 80053646494 scopus 로고    scopus 로고
    • Familial myelodysplastic syndromes: A review of the literature
    • Liew E, Owen C. Familial myelodysplastic syndromes: a review of the literature. Haematologica. 2011; 96 (10): 1536-1542
    • (2011) Haematologica , vol.96 , Issue.10 , pp. 1536-1542
    • Liew, E.1    Owen, C.2
  • 24
    • 58149378467 scopus 로고    scopus 로고
    • Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy
    • Owen CJ, Toze CL, Koochin A, et al. Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy. Blood. 2008; 112 (12): 4639-4645.
    • (2008) Blood , vol.112 , Issue.12 , pp. 4639-4645
    • Owen, C.J.1    Toze, C.L.2    Koochin, A.3
  • 25
    • 84951845494 scopus 로고    scopus 로고
    • Correspondence regarding the consensus statement from the Worldwide Network for Blood and Marrow Transplantation Standing Committee on Donor Issues
    • Churpek JE, Artz A, Bishop M, Liu H, Godley LA. Correspondence regarding the consensus statement from the Worldwide Network for Blood and Marrow Transplantation Standing Committee on Donor Issues. Biol Blood Marrow Transplant. 2016; 22 (1): 183-184.
    • (2016) Biol Blood Marrow Transplant , vol.22 , Issue.1 , pp. 183-184
    • Churpek, J.E.1    Artz, A.2    Bishop, M.3    Liu, H.4    Godley, L.A.5
  • 26
    • 84855218880 scopus 로고    scopus 로고
    • Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIb (Bolzano mutation)
    • Noris P, Perrotta S, Bottega R, et al. Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIb (Bolzano mutation). Haematologica. 2012; 97 (1): 82-88.
    • (2012) Haematologica. , vol.97 , Issue.1 , pp. 82-88
    • Noris, P.1    Perrotta, S.2    Bottega, R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.