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Volumn 90, Issue 5, 1997, Pages 2057-2061

Two new EPO receptor mutations: Truncated EPO receptors are most frequently associated with primary familial and congenital polycythemias

Author keywords

[No Author keywords available]

Indexed keywords

ERYTHROPOIETIN; ERYTHROPOIETIN RECEPTOR; HEMOGLOBIN;

EID: 0030954685     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v90.5.2057     Document Type: Article
Times cited : (99)

References (28)
  • 4
    • 0028300494 scopus 로고
    • Mutation in the negative regulatory element of the erythropoietin receptor gene in a case of sporadic primary polycythemia
    • Sokol L, Prchal JF, D' Andrea A, Rado TA, Prchal JT: Mutation in the negative regulatory element of the erythropoietin receptor gene in a case of sporadic primary polycythemia. Exp Hematol 22:447, 1994
    • (1994) Exp Hematol , vol.22 , pp. 447
    • Sokol, L.1    Prchal, J.F.2    D' Andrea, A.3    Rado, T.A.4    Prchal, J.T.5
  • 5
    • 0024563574 scopus 로고
    • Expression cloning of the murine erythropoietin receptor
    • D' Andrea AD, Lodish HF, Wong GG: Expression cloning of the murine erythropoietin receptor. Cell 57:277, 1989
    • (1989) Cell , vol.57 , pp. 277
    • D' Andrea, A.D.1    Lodish, H.F.2    Wong, G.G.3
  • 6
    • 0025328797 scopus 로고
    • The gene for the human erythropoietin receptor: Analysis of the coding sequence and assignment to chromosome 19q
    • Winkelmann JC, Penny LA, Deaven LL, Forget BG, Jenkins RB: The gene for the human erythropoietin receptor: Analysis of the coding sequence and assignment to chromosome 19q: Blood 76:24, 1990
    • (1990) Blood , vol.76 , pp. 24
    • Winkelmann, J.C.1    Penny, L.A.2    Deaven, L.L.3    Forget, B.G.4    Jenkins, R.B.5
  • 8
    • 0027215519 scopus 로고
    • Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis
    • De la Chapelle A, Traskelin A-L, Juvonen E: Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis. Proc Natl Acad Sci USA 90:4495, 1993
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 4495
    • De La Chapelle, A.1    Traskelin, A.-L.2    Juvonen, E.3
  • 9
    • 0029050709 scopus 로고
    • Primary familial polycythemia: A frameshift mutation in the erythropoietin receptor gene and increased sensitivity of erythroid progenitors to erythropoietin
    • 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 86:15, 1995
    • (1995) Blood , vol.86 , pp. 15
    • Sokol, L.1    Luhovy, M.2    Guan, Y.3    Prchal, J.F.4    Semenza, G.L.5    Prchal, J.T.6
  • 10
    • 0003264057 scopus 로고
    • Absence of polycythemia phenotype in a child in PFCP family with EPO receptor mutation
    • abstr
    • Kralovics R, Sokol L, Tze L, Guan Y, Prchal JF, Prchal JT: Absence of polycythemia phenotype in a child in PFCP family with EPO receptor mutation. Blood 86:18a, 1995 (abstr)
    • (1995) Blood , vol.86
    • Kralovics, R.1    Sokol, L.2    Tze, L.3    Guan, Y.4    Prchal, J.F.5    Prchal, J.T.6
  • 12
    • 0010981032 scopus 로고    scopus 로고
    • Primary familial polycythemia associated with novel point mutation in the erythropoietin receptor
    • abstr
    • Furukawa T, Sakaue M, Otsuka T, Narita M, Koike T, Kishi K, Utsumi H, Aizawa Y: Primary familial polycythemia associated with novel point mutation in the erythropoietin receptor. Blood 88:145a, 1996 (abstr)
    • (1996) Blood , vol.88
    • Furukawa, T.1    Sakaue, M.2    Otsuka, T.3    Narita, M.4    Koike, T.5    Kishi, K.6    Utsumi, H.7    Aizawa, Y.8
  • 13
    • 0026063514 scopus 로고
    • The cytoplasmic region of the erythropoietin receptor contains non-overlapping positive and negative growth-regulatory domains
    • D' Andrea AD, Yoshimura A, Youssoufian H, Zon LI, Koo J-W, Lodish HF: The cytoplasmic region of the erythropoietin receptor contains non-overlapping positive and negative growth-regulatory domains. Mol Cell Biol 11:1980, 1991
    • (1991) Mol Cell Biol , vol.11 , pp. 1980
    • D' Andrea, A.D.1    Yoshimura, A.2    Youssoufian, H.3    Zon, L.I.4    Koo, J.-W.5    Lodish, H.F.6
  • 14
    • 25344468131 scopus 로고
    • Proliferation of erythroid crisis in PFCP associated with mutations of erythropoietin receptor (EPOR) are due to increased mitogenesis but not from inhibition of apoptosis
    • abstr
    • Sokol L, Kralovics R, Prchal JT: Proliferation of erythroid crisis in PFCP associated with mutations of erythropoietin receptor (EPOR) are due to increased mitogenesis but not from inhibition of apoptosis. Blood 86:19a, 1995 (abstr)
    • (1995) Blood , vol.86
    • Sokol, L.1    Kralovics, R.2    Prchal, J.T.3
  • 16
    • 0027193630 scopus 로고
    • The sensitivity of single-strand conformational polymorphism analysis for the detection of single base substitutions
    • Sheffield VC, Beck JS, Kwitek AE, Sandstrom DV, Stone EM: The sensitivity of single-strand conformational polymorphism analysis for the detection of single base substitutions. Genomics 16:325, 1993
    • (1993) Genomics , vol.16 , pp. 325
    • Sheffield, V.C.1    Beck, J.S.2    Kwitek, A.E.3    Sandstrom, D.V.4    Stone, E.M.5
  • 17
    • 0021334086 scopus 로고
    • Pure erythrocytosis classified according to erythropoietin titers
    • Erslev AJ, Caro J: Pure erythrocytosis classified according to erythropoietin titers. Am J Med 76:57, 1984
    • (1984) Am J Med , vol.76 , pp. 57
    • Erslev, A.J.1    Caro, J.2
  • 18
    • 0017684086 scopus 로고
    • Human marrow cells capable of erythropoietic differentiation in vitro: Definition of three erythroid colony responses
    • Gregory CJ, Eaves AC: Human marrow cells capable of erythropoietic differentiation in vitro: Definition of three erythroid colony responses. Blood 49:855, 1977
    • (1977) Blood , vol.49 , pp. 855
    • Gregory, C.J.1    Eaves, A.C.2
  • 19
    • 0028146159 scopus 로고
    • Anti-erythropoietin (EPO) receptor monoclonal antibodies distinguish EPO-dependent and EPO-independent erythroid progenitors in polycythemia vera
    • Fisher MJ, Prchal JF, Prchal JT, D' Andrea AD: Anti-erythropoietin (EPO) receptor monoclonal antibodies distinguish EPO-dependent and EPO-independent erythroid progenitors in polycythemia vera. Blood 84:1982, 1994
    • (1994) Blood , vol.84 , pp. 1982
    • Fisher, M.J.1    Prchal, J.F.2    Prchal, J.T.3    D' Andrea, A.D.4
  • 20
    • 0001688846 scopus 로고
    • Bone marrow responses in polycythemia vera
    • Prchal JF, Axelrad AA: Bone marrow responses in polycythemia vera. N Eng J Med 289:132, 1974
    • (1974) N Eng J Med , vol.289 , pp. 132
    • Prchal, J.F.1    Axelrad, A.A.2
  • 21
    • 0018163444 scopus 로고
    • Erythropoietin (Ep) dose-response curves for three classes of erythroid progenitors in normal human marrow and in patients with polycythemia vera
    • Eaves CJ, Eaves AC: Erythropoietin (Ep) dose-response curves for three classes of erythroid progenitors in normal human marrow and in patients with polycythemia vera. Blood 52:1196, 1978
    • (1978) Blood , vol.52 , pp. 1196
    • Eaves, C.J.1    Eaves, A.C.2
  • 22
    • 0003264057 scopus 로고
    • Absence of linkage between polycythemia phenotype and EPO receptor mutation in a large polycythemic family
    • abstr
    • Kralovics R, Tze L, Guan Y, Sokol L, Prchal JT: Absence of linkage between polycythemia phenotype and EPO receptor mutation in a large polycythemic family. Blood 86:18a, 1995 (abstr)
    • (1995) Blood , vol.86
    • Kralovics, R.1    Tze, L.2    Guan, Y.3    Sokol, L.4    Prchal, J.T.5
  • 23
    • 0027241944 scopus 로고
    • Primary familial and congenital polycythemia is a heterogeneous disorder
    • Sokol L, Prchal JF, Prchal JT: Primary familial and congenital polycythemia is a heterogeneous disorder. Lancet 342:115, 1993
    • (1993) Lancet , vol.342 , pp. 115
    • Sokol, L.1    Prchal, J.F.2    Prchal, J.T.3
  • 24
    • 0025885417 scopus 로고
    • Autosomal dominant erythrocytosis caused by increased sensitivity to erythropoietin
    • Juvonen E, Ikkala E, Fyhrquist F, Ruutu T: Autosomal dominant erythrocytosis caused by increased sensitivity to erythropoietin. Blood 78:3066, 1991
    • (1991) Blood , vol.78 , pp. 3066
    • Juvonen, E.1    Ikkala, E.2    Fyhrquist, F.3    Ruutu, T.4
  • 25
    • 0003264057 scopus 로고
    • Two unique EPOR mutations associated with primary familial and congenital polycythemias
    • abstr
    • Kralovics R, Tze L, Guan Y, Indrak K, Berman B, Sokol L, Prchal JT: Two unique EPOR mutations associated with primary familial and congenital polycythemias. Blood 86:18a, 1995 (abstr)
    • (1995) Blood , vol.86
    • Kralovics, R.1    Tze, L.2    Guan, Y.3    Indrak, K.4    Berman, B.5    Sokol, L.6    Prchal, J.T.7
  • 26
    • 4243568949 scopus 로고    scopus 로고
    • Familial erythrocytosis associated with a short deletion in the erythropoietin gene
    • abstr
    • Arcasoy MO, Degar BA, Forget BG: Familial erythrocytosis associated with a short deletion in the erythropoietin gene. J Invest Med 44:213a, 1996 (abstr)
    • (1996) J Invest Med , vol.44
    • Arcasoy, M.O.1    Degar, B.A.2    Forget, B.G.3
  • 27
    • 0000679061 scopus 로고
    • Two microsatellite repeat polymorphisms in the EPOR gene
    • Sokol L, Prchal JT: Two microsatellite repeat polymorphisms in the EPOR gene. Hum Mol Genet 3:219, 1994
    • (1994) Hum Mol Genet , vol.3 , pp. 219
    • Sokol, L.1    Prchal, J.T.2
  • 28
    • 0025633003 scopus 로고
    • Point mutation in the exoplasmic domain of the erythropoietin receptor resulting in hormone-independent activation and tumorigenicity
    • Yoshimura A, Longmore G, Lodish HF: Point mutation in the exoplasmic domain of the erythropoietin receptor resulting in hormone-independent activation and tumorigenicity. Nature 348:647, 1990
    • (1990) Nature , vol.348 , pp. 647
    • Yoshimura, A.1    Longmore, G.2    Lodish, H.F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.