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Volumn 12, Issue 1, 2000, Pages 29-34

Congenital and inherited polycythemia

Author keywords

[No Author keywords available]

Indexed keywords

2,3 DIPHOSPHOGLYCERIC ACID; ERYTHROPOIETIN; ERYTHROPOIETIN RECEPTOR; HEMOGLOBIN VARIANT;

EID: 0033957582     PISSN: 10408703     EISSN: None     Source Type: Journal    
DOI: 10.1097/00008480-200002000-00006     Document Type: Review
Times cited : (24)

References (49)
  • 1
    • 0029257760 scopus 로고
    • Primary polycythemias
    • 1 Prchal J: Primary polycythemias. Curr Opinion Hematol 1995, 2:146-152.
    • (1995) Curr Opinion Hematol , vol.2 , pp. 146-152
    • Prchal, J.1
  • 3
    • 0025885417 scopus 로고
    • Autosomal dominant erythrocytosis causes by increased sensitivity to erythropoietin
    • 3 Juvonen E, Ikkala E, Fyhrquist F, Ruutu T: Autosomal dominant erythrocytosis causes by increased sensitivity to erythropoietin. Blood 1991, 78:3066-3069.
    • (1991) Blood , vol.78 , pp. 3066-3069
    • Juvonen, E.1    Ikkala, E.2    Fyhrquist, F.3    Ruutu, T.4
  • 5
    • 0024563574 scopus 로고
    • Expression cloning of the murine erythropoietin receptor
    • 5 D'Andrea A, Lodish H, Wong G: Expression cloning of the murine erythropoietin receptor. Cell 1989, 57:277-285.
    • (1989) Cell , vol.57 , pp. 277-285
    • D'Andrea, A.1    Lodish, H.2    Wong, G.3
  • 6
    • 0025337049 scopus 로고
    • Human erythropoietin receptor: Cloning, expression, and biologic characterization
    • 6 Jones S, D'Andrea A, Haones L, Wong G: Human erythropoietin receptor: cloning, expression, and biologic characterization. Blood 1990, 76:31-35.
    • (1990) Blood , vol.76 , pp. 31-35
    • Jones, S.1    D'Andrea, A.2    Haones, L.3    Wong, G.4
  • 7
    • 0025328797 scopus 로고
    • The gene for the human erythropoietin receptor: Analysis of the coding sequence and assignment to chromosome 19q
    • 7 Winkelmann J, Penny L, Deaven L, Forget B, Jenkins R: The gene for the human erythropoietin receptor: Analysis of the coding sequence and assignment to chromosome 19q. Blood 1990, 76:24.
    • (1990) Blood , vol.76 , pp. 24
    • Winkelmann, J.1    Penny, L.2    Deaven, L.3    Forget, B.4    Jenkins, R.5
  • 8
  • 9
    • 0000679061 scopus 로고
    • Two microsatellite repeat polymorphisms in the 5′ untranslated region of the erythropoietin receptor gene
    • 9 Sokol L, Prchal J: Two microsatellite repeat polymorphisms in the 5′ untranslated region of the erythropoietin receptor gene. Hum Mol Genet 1994, 3:219.
    • (1994) Hum Mol Genet , vol.3 , pp. 219
    • Sokol, L.1    Prchal, J.2
  • 10
    • 0027215519 scopus 로고
    • Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis
    • 10 De la Chapelle A, Traskelin A-L, Juvonen E: Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis. Proc Natl Acad Sci U S A 1993, 90:4495-4499.
    • (1993) Proc Natl Acad Sci U S A , vol.90 , pp. 4495-4499
    • De La Chapelle, A.1    Traskelin, A.-L.2    Juvonen, E.3
  • 11
    • 0028300494 scopus 로고
    • Mutation in the negative regulatory element of the erythropoietin receptor gene in a case of sporadic primary polycythemia
    • 11 Sokol L, Prchal JF, D' Andrea AD, Rado TA, Prchal JT: Mutation in the negative regulatory element of the erythropoietin receptor gene in a case of sporadic primary polycythemia. Exp Hematol 1994, 22:447-453.
    • (1994) Exp Hematol , vol.22 , pp. 447-453
    • Sokol, L.1    Prchal, J.F.2    D' Andrea, A.D.3    Rado, T.A.4    Prchal, J.T.5
  • 12
    • 0029050709 scopus 로고
    • Primary familial polycythemia: A frameshift mutation in the erythropoietin receptor gene and increased sensitivity of erythroid progenitors to erythropoietin
    • 12 Sokol L, Luhovy M, Guan Y, Prchal JF, Semenza GL, Prchal JT: Primary familial polycythemia: A frameshift mutation in the erythropoietin receptor gene and increased sensitivity of erythroid progenitors to erythropoietin. Blood 1995, 86:15-22.
    • (1995) Blood , vol.86 , pp. 15-22
    • Sokol, L.1    Luhovy, M.2    Guan, Y.3    Prchal, J.F.4    Semenza, G.L.5    Prchal, J.T.6
  • 13
    • 0030954685 scopus 로고    scopus 로고
    • Two new EPO receptor mutations: Truncated EPO receptors are most frequently associated with primary familial and congenital polycylhemias
    • 13 Kralovics R, Indrak K, Stopka T, Berman B, Prchal J, Prchal J: Two new EPO receptor mutations: truncated EPO receptors are most frequently associated with primary familial and congenital polycylhemias. Blood 1997, 90:2057-2061.
    • (1997) Blood , vol.90 , pp. 2057-2061
    • Kralovics, R.1    Indrak, K.2    Stopka, T.3    Berman, B.4    Prchal, J.5    Prchal, J.6
  • 14
    • 0032128336 scopus 로고    scopus 로고
    • Absence of polycythemia in a child with a unique erythropoietin receptor mutation in a family with autosomal dominant primary polycythemia
    • 14 Kralovics R, Sokol L, Prchal JT: Absence of polycythemia in a child with a unique erythropoietin receptor mutation in a family with autosomal dominant primary polycythemia. J Clin Invest 1998, 102:124-129. In this report, the authors demonstrate that mutations of the erythropoeitin receptor may have various degree of phenotypic expression, and point out the existence of polythemia compensating factors.
    • (1998) J Clin Invest , vol.102 , pp. 124-129
    • Kralovics, R.1    Sokol, L.2    Prchal, J.T.3
  • 15
    • 9844244548 scopus 로고    scopus 로고
    • Primary familial polycythaemia associated with novel point mutation in the erythropoietin receptor
    • 15 Furukawa T, Narita M, Sakaue M, Otsuka T, Kuroha T, Masuko M, et al.: Primary familial polycythaemia associated with novel point mutation in the erythropoietin receptor. Br J Haematol 1997, 99:222-227.
    • (1997) Br J Haematol , vol.99 , pp. 222-227
    • Furukawa, T.1    Narita, M.2    Sakaue, M.3    Otsuka, T.4    Kuroha, T.5    Masuko, M.6
  • 16
    • 0001305156 scopus 로고    scopus 로고
    • Low frequency of erythropoietin receptor gene mutations in subjects with primary familial and congenital polycythemia
    • 16 Kralovics R, Divoka M, Stopka T, Prchal JT: Low frequency of erythropoietin receptor gene mutations in subjects with primary familial and congenital polycythemia [abstract]. Blood 1997, 90:16.
    • (1997) Blood , vol.90 , pp. 16
    • Kralovics, R.1    Divoka, M.2    Stopka, T.3    Prchal, J.T.4
  • 17
    • 0003249887 scopus 로고    scopus 로고
    • A novel mutation in the erythropoietin receptor (EPOR gene leads to an extensive COOH-terminal truncation of the EPOR associated with familial erythrocytosis)
    • 17 Arcasoy MO, Sinning JG, Segal HM, Forget BG: A novel mutation in the erythropoietin receptor (EPOR gene leads to an extensive COOH-terminal truncation of the EPOR associated with familial erythrocytosis) [abstract]. Blood 1998, 92:205.
    • (1998) Blood , vol.92 , pp. 205
    • Arcasoy, M.O.1    Sinning, J.G.2    Segal, H.M.3    Forget, B.G.4
  • 18
    • 0030021792 scopus 로고    scopus 로고
    • Missense mutation of the erythropoietin receptor is a rare event in human erythroid malignancies
    • 18 Le Couedic JP, Mitjavila MT, Villeval JL, Feger F, Gobert S, Mayeux P, et al.: Missense mutation of the erythropoietin receptor is a rare event in human erythroid malignancies. Blood 1996, 87:1502-1511.
    • (1996) Blood , vol.87 , pp. 1502-1511
    • Le Couedic, J.P.1    Mitjavila, M.T.2    Villeval, J.L.3    Feger, F.4    Gobert, S.5    Mayeux, P.6
  • 19
    • 0030723152 scopus 로고    scopus 로고
    • The erythropoietin receptor gene is not linked with polycythemia phenotype in a family with autosomal dominant primary polycythemia
    • 19 Kralovics R, Sokol L, Broxson E, Prchal J: The erythropoietin receptor gene is not linked with polycythemia phenotype in a family with autosomal dominant primary polycythemia. Proc Assoc Am Physicians 1997, 109:580-585.
    • (1997) Proc Assoc Am Physicians , vol.109 , pp. 580-585
    • Kralovics, R.1    Sokol, L.2    Broxson, E.3    Prchal, J.4
  • 20
    • 0026063514 scopus 로고
    • The cytoplasmic region of the erythropoietin receptor contains non-overlapping positive and negative growth-regulatory domains
    • 20 D'Andrea A, Yoshimura A, Youssoufian H, Zon L, Koo J-W, Lodish H: The cytoplasmic region of the erythropoietin receptor contains non-overlapping positive and negative growth-regulatory domains. Mol Cell Biol 1991, 11:1980-1987.
    • (1991) Mol Cell Biol , vol.11 , pp. 1980-1987
    • D'Andrea, A.1    Yoshimura, A.2    Youssoufian, H.3    Zon, L.4    Koo, J.-W.5    Lodish, H.6
  • 21
    • 0027327484 scopus 로고
    • JAK2 associates with the erythropoietin receptor and is tyrosine phosphorylated and activated following stimulation with erythropoietin
    • 21 Witthuhn B, Quelle F, Silvennoinen O, Ul T, Tang B, Miura O, Ihle J: JAK2 associates with the erythropoietin receptor and is tyrosine phosphorylated and activated following stimulation with erythropoietin. Cell 1993, 74:227-238.
    • (1993) Cell , vol.74 , pp. 227-238
    • Witthuhn, B.1    Quelle, F.2    Silvennoinen, O.3    Ul, T.4    Tang, B.5    Miura, O.6    Ihle, J.7
  • 22
    • 0028956353 scopus 로고
    • Specific recruitment of SH-PTP1 to the erythropoietin receptor causes inactivation of JAK2 and termination of proliferative signals
    • 22 Klingmuller U, Lorenz U, Cantley L, Neel B, Lodish H: Specific recruitment of SH-PTP1 to the erythropoietin receptor causes inactivation of JAK2 and termination of proliferative signals. Cell 1995, 80:729-738.
    • (1995) Cell , vol.80 , pp. 729-738
    • Klingmuller, U.1    Lorenz, U.2    Cantley, L.3    Neel, B.4    Lodish, H.5
  • 29
    • 0017653321 scopus 로고
    • Chronic myelocytic leukemia: Clonaf origin in a stem cell common to the granulocyte, erythrocyte, platelet and monocyte/macrophage
    • 29 Fialkow PJ, Jacobson RJ, Papayannopoulou T: Chronic myelocytic leukemia: Clonaf origin in a stem cell common to the granulocyte, erythrocyte, platelet and monocyte/macrophage. Am J Med 1977, 63:125-130.
    • (1977) Am J Med , vol.63 , pp. 125-130
    • Fialkow, P.J.1    Jacobson, R.J.2    Papayannopoulou, T.3
  • 30
    • 0019818299 scopus 로고
    • Evidence that essential thrombocythemia is a clonal disorder with origin in a multipotent stem cell
    • 30 Fialkow PJ, Faguet GB, Jacobson RJ, Vaidya K, Murphy S: Evidence that essential thrombocythemia is a clonal disorder with origin in a multipotent stem cell. Blood 1981, 58:916-919.
    • (1981) Blood , vol.58 , pp. 916-919
    • Fialkow, P.J.1    Faguet, G.B.2    Jacobson, R.J.3    Vaidya, K.4    Murphy, S.5
  • 31
    • 0031019581 scopus 로고    scopus 로고
    • Clonality analysis of hematopoiesis in essential thrombocythemia: Advantages of studying T lymphocytes and platelets
    • 31 El-Kassar N, Hetet G, Briere J, Grandchamp B: Clonality analysis of hematopoiesis in essential thrombocythemia: advantages of studying T lymphocytes and platelets. Blood 1997, 89:128-134.
    • (1997) Blood , vol.89 , pp. 128-134
    • El-Kassar, N.1    Hetet, G.2    Briere, J.3    Grandchamp, B.4
  • 33
    • 0026091590 scopus 로고
    • Clonal granulocytes and bone marrow cells in the cellular phase of agnogenic myeloid metaplasia
    • 33 Kreipe H, Jaquet K, Feigner J, Radzun HJ, Parwaresch MR: Clonal granulocytes and bone marrow cells in the cellular phase of agnogenic myeloid metaplasia. Blood 1991, 78:1814-1817.
    • (1991) Blood , vol.78 , pp. 1814-1817
    • Kreipe, H.1    Jaquet, K.2    Feigner, J.3    Radzun, H.J.4    Parwaresch, M.R.5
  • 35
    • 0027052743 scopus 로고
    • Erythropoietin-independent colony growth in polycythemia vera is not restricted to progenitor cells with trisomy of chromosome 8
    • 35 Kanfer E, Price CM, Colman SM, Barrett AJ: Erythropoietin-independent colony growth in polycythemia vera is not restricted to progenitor cells with trisomy of chromosome 8. Br J Haematol 1992, 82:773.
    • (1992) Br J Haematol , vol.82 , pp. 773
    • Kanfer, E.1    Price, C.M.2    Colman, S.M.3    Barrett, A.J.4
  • 36
    • 0029922403 scopus 로고    scopus 로고
    • Pathogenesis of polycythemia vera
    • 36 Green AR: Pathogenesis of polycythemia vera. Lancet 1996, 349:844-845.
    • (1996) Lancet , vol.349 , pp. 844-845
    • Green, A.R.1
  • 38
    • 0018938883 scopus 로고
    • The familial occurrence of polycythemia vera: Report of a father and son, with consideration of the possible etiologic role of exposure to organic solvents, including tetrachloroethylene
    • 38 Ratnoff WD, Gress RE: The familial occurrence of polycythemia vera: report of a father and son, with consideration of the possible etiologic role of exposure to organic solvents, including tetrachloroethylene. Blood 1980, 56:233-236.
    • (1980) Blood , vol.56 , pp. 233-236
    • Ratnoff, W.D.1    Gress, R.E.2
  • 44
    • 0001688846 scopus 로고
    • Bone-marrow responses in polycythemia vera
    • 44 Prchal J, Axelrad A: Bone-marrow responses in polycythemia vera. N Eng J Med 1974, 289:132.
    • (1974) N Eng J Med , vol.289 , pp. 132
    • Prchal, J.1    Axelrad, A.2
  • 45
    • 0031041432 scopus 로고    scopus 로고
    • In vitro erythropoiesis in polycythemia vera and other myeloproliferative disorders
    • 45 Weinberg R: In vitro erythropoiesis in polycythemia vera and other myeloproliferative disorders. Semin Hem 1997, 34:64-69.
    • (1997) Semin Hem , vol.34 , pp. 64-69
    • Weinberg, R.1
  • 46
    • 0032322843 scopus 로고    scopus 로고
    • Haematopoietic progenitors and signal transduction in polycythaemia vera and primary thrombocythaemia
    • 46 Kralovics R, Prchal JT: Haematopoietic progenitors and signal transduction in polycythaemia vera and primary thrombocythaemia. Baillieres Clin Haematol 1998, 11:803-818. The authors of this report emphasize the differences between polycythemia vera and primary familial and congenital polycythemia, and also provide an overview of polycythemia vera and essential thrombocythemia.
    • (1998) Baillieres Clin Haematol , vol.11 , pp. 803-818
    • Kralovics, R.1    Prchal, J.T.2
  • 47
    • 0017144203 scopus 로고
    • Detection of mutant hemoglobins with altered affinity for oxygen: A simplified technique
    • 47 Lichtman M, Murphy M, Adamson J: Detection of mutant hemoglobins with altered affinity for oxygen: a simplified technique. Ann Intern Med 1976, 84:517-520.
    • (1976) Ann Intern Med , vol.84 , pp. 517-520
    • Lichtman, M.1    Murphy, M.2    Adamson, J.3
  • 48
    • 0021344981 scopus 로고
    • Deficit en diphosphoglycerate mutase: Nouveaux cas associes a une polyglobulie
    • 48 Galacteros F, Rosa R, Prehu M, Najean Y, Calvin M: Deficit en diphosphoglycerate mutase: nouveaux cas associes a une polyglobulie. Nouv Rev Fr Hematol 1982, 26:69,
    • (1982) Nouv Rev Fr Hematol , vol.26 , pp. 69
    • Galacteros, F.1    Rosa, R.2    Prehu, M.3    Najean, Y.4    Calvin, M.5


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