메뉴 건너뛰기




Volumn 90, Issue 1, 2005, Pages 109-116

Congenital polycythemias/erythrocytoses

Author keywords

Ataxia telangectasia; Polycythemia; Von Hippel Landau gene

Indexed keywords

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

EID: 13244275298     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (87)

References (48)
  • 1
    • 0037114625 scopus 로고    scopus 로고
    • Polycythemia vera: Myths, mechanisms, and management
    • Spivak JL. Polycythemia vera: myths, mechanisms, and management. Blood 2002;100:4272-90.
    • (2002) Blood , vol.100 , pp. 4272-4290
    • Spivak, J.L.1
  • 2
    • 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;102:3793-6.
    • (2003) Blood , vol.102 , pp. 3793-3796
    • Kralovics, R.1    Stockton, D.W.2    Prchal, J.T.3
  • 3
    • 0035029319 scopus 로고    scopus 로고
    • Hypoxia-inducible factor 1. Control of oxygen homeostasis in health and disease
    • Semenza GL. Hypoxia-inducible factor 1. Control of oxygen homeostasis in health and disease. Fed Res 2001;49: 614-7.
    • (2001) Fed Res , vol.49 , pp. 614-617
    • Semenza, G.L.1
  • 4
    • 0029051439 scopus 로고
    • Hypoxia-inducible factor 1 is a basic-heiix-loop-helix-PAS heterodimer regulated by cellular O2 tension
    • Wane GL, Jiang BH, Rue EA, Semenza GL. Hypoxia-inducible factor 1 is a basic-heiix-loop-helix-PAS heterodimer regulated by cellular O2 tension. Proc Natl Acad Sci USA 1995;92:5510-4.
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 5510-5514
    • Wane, G.L.1    Jiang, B.H.2    Rue, E.A.3    Semenza, G.L.4
  • 5
    • 0034712939 scopus 로고
    • Hypoxia-inducible factor 1a protein expression is controlled by oxygen-regulated ubiquitination that is disrupted by deletions and missense mutations
    • Sutter CH, Laughner E, Semenza GL. Hypoxia-inducible factor 1a protein expression is controlled by oxygen-regulated ubiquitination that is disrupted by deletions and missense mutations. Proc Natl Acad Sci USA 1995;97:4748-53.
    • (1995) Proc Natl Acad Sci USA , vol.97 , pp. 4748-4753
    • Sutter, C.H.1    Laughner, E.2    Semenza, G.L.3
  • 6
    • 0026468180 scopus 로고
    • A nuclear factor induced by hypoxia via de novo protein synthesis binds to the human erythropoietin gene enhancer at a site required for transcriptional activation
    • Semenza GL, Wang GL. A nuclear factor induced by hypoxia via de novo protein synthesis binds to the human erythropoietin gene enhancer at a site required for transcriptional activation. Mol Cell Biol 1992;12:5447.
    • (1992) Mol Cell Biol , vol.12 , pp. 5447
    • Semenza, G.L.1    Wang, G.L.2
  • 7
    • 2342538336 scopus 로고    scopus 로고
    • Targeting of HIF-α to the von Hippel Lindau ubiquitylation complex by O2-regulated hydroxylation
    • Jaakola P, Mole DR, Tian YM, Wilson MI, Bielbert J, Gaskell SJ, et al. Targeting of HIF-α to the von Hippel Lindau ubiquitylation complex by O2-regulated hydroxylation. Science 2001; 292:48-72.
    • (2001) Science , vol.292 , pp. 48-72
    • Jaakola, P.1    Mole, D.R.2    Tian, Y.M.3    Wilson, M.I.4    Bielbert, J.5    Gaskell, S.J.6
  • 8
    • 0035917313 scopus 로고    scopus 로고
    • HIFα targeted for VHL-mediated destruction by proline hydroxylation: Implications for O2 sensing
    • Ivan M, Kongo K, Yang H, Kim W, Valiando J, Ohh M, et al. HIFα targeted for VHL-mediated destruction by proline hydroxylation: implications for O2 sensing. Science 2001;292:464-8.
    • (2001) Science , vol.292 , pp. 464-468
    • Ivan, M.1    Kongo, K.2    Yang, H.3    Kim, W.4    Valiando, J.5    Ohh, M.6
  • 9
    • 0016118725 scopus 로고
    • Familial erythrocytosis among inhabitants of the Chuvash ASSR
    • Polyakova LA. Familial erythrocytosis among inhabitants of the Chuvash ASSR. Probl Gematol 1974;10:30-6.
    • (1974) Probl Gematol , vol.10 , pp. 30-36
    • Polyakova, L.A.1
  • 13
    • 18744373593 scopus 로고    scopus 로고
    • Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia
    • Ang SO, Chen H, Hirota K, Gordeuk VR, Jelinek J, Guan Y, et al. Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia. Nat Genet 2002;32:614-21.
    • (2002) Nat Genet , vol.32 , pp. 614-621
    • Ang, S.O.1    Chen, H.2    Hirota, K.3    Gordeuk, V.R.4    Jelinek, J.5    Guan, Y.6
  • 15
    • 0033928280 scopus 로고    scopus 로고
    • Erythroid progenitors differentiate and mature in response to endogenous erythropoietin
    • Sato T, Maekawa T, Watanabe S, Tsuji K, Nakahata T. Erythroid progenitors differentiate and mature in response to endogenous erythropoietin. J Clin Invest 1998;106:263-70.
    • (1998) J Clin Invest , vol.106 , pp. 263-270
    • Sato, T.1    Maekawa, T.2    Watanabe, S.3    Tsuji, K.4    Nakahata, T.5
  • 17
    • 0037441601 scopus 로고    scopus 로고
    • Mutations in the VHL gene in sporadic apparently congenital polycythemia
    • Pastore YD, Jelinek J, Ang S, Guan Y, Liu E, Jedlickova K, et al. Mutations in the VHL gene in sporadic apparently congenital polycythemia. Blood 2003; 101:1591-5.
    • (2003) Blood , vol.101 , pp. 1591-1595
    • Pastore, Y.D.1    Jelinek, J.2    Ang, S.3    Guan, Y.4    Liu, E.5    Jedlickova, K.6
  • 18
    • 0042744741 scopus 로고    scopus 로고
    • Chuvash-type congenital polycythemia in 4 families of Asian and Western European ancestry
    • Percy MJ, McMullin MF, Jowitt SN, Potter M, Treacy M, Watson WH, et al. Chuvash-type congenital polycythemia in 4 families of Asian and Western European ancestry. Blood 2003;102: 1097-9.
    • (2003) Blood , vol.102 , pp. 1097-1099
    • Percy, M.J.1    McMullin, M.F.2    Jowitt, S.N.3    Potter, M.4    Treacy, M.5    Watson, W.H.6
  • 19
    • 0042665948 scopus 로고    scopus 로고
    • Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia
    • Pastore Y, Jedlickova K, Guan Y, Liu E, Fahner J, Hasle H, et al. Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia. Am J Hum Genet 2003;73:412-9.
    • (2003) Am J Hum Genet , vol.73 , pp. 412-419
    • Pastore, Y.1    Jedlickova, K.2    Guan, Y.3    Liu, E.4    Fahner, J.5    Hasle, H.6
  • 20
    • 13244281831 scopus 로고    scopus 로고
    • Mutations in the von-Hippel-Lindau (vHL) tumor suppressor gene and vHL-haplotype analysis in patients with presumable congenital erythrocytosis
    • Cario H, Schwarz K, Jorch N, Kyank U, Petrides PE, Schneider DT, et al. Mutations in the von-Hippel-Lindau (vHL) tumor suppressor gene and vHL-haplotype analysis in patients with presumable congenital erythrocytosis. Haematologica 2005;90:19-24.
    • (2005) Haematologica , vol.90 , pp. 19-24
    • Cario, H.1    Schwarz, K.2    Jorch, N.3    Kyank, U.4    Petrides, P.E.5    Schneider, D.T.6
  • 21
    • 13244272302 scopus 로고    scopus 로고
    • Five new Caucasian patients with congenital Polycythemia due to heterogenous VHL gene mutations
    • Bento MC, Chang KT, Guan YL, Liu EL, Pastore Y, Ribeiro MKL, et al. Five new Caucasian patients with congenital Polycythemia due to heterogenous VHL gene mutations. Haematologica 2005;2005;90:128-9.
    • (2005) Haematologica 2005 , vol.90 , pp. 128-129
    • Bento, M.C.1    Chang, K.T.2    Guan, Y.L.3    Liu, E.L.4    Pastore, Y.5    Ribeiro, M.K.L.6
  • 22
    • 0038281343 scopus 로고    scopus 로고
    • Discrimination of polycythemias and thrombocytoses by novel, simple, accurate clonality assays and comparison with PRV-1 expression and BFU-E response to erythropoietin
    • Liu E, Jelinek J, Pastore YD, Guan Y, Prchal JF, Prchal JT. Discrimination of polycythemias and thrombocytoses by novel, simple, accurate clonality assays and comparison with PRV-1 expression and BFU-E response to erythropoietin. Blood 2003;101:3294-301.
    • (2003) Blood , vol.101 , pp. 3294-3301
    • Liu, E.1    Jelinek, J.2    Pastore, Y.D.3    Guan, Y.4    Prchal, J.F.5    Prchal, J.T.6
  • 23
    • 10744232594 scopus 로고    scopus 로고
    • The worldwide distribution of the VHL 598C->T mutation indicates a single founding event
    • Liu E, Percy MJ, Amos CI, Guan Y, Shete S, Stockton DW, et al. The worldwide distribution of the VHL 598C->T mutation indicates a single founding event. Blood 2004;103:1937-40.
    • (2004) Blood , vol.103 , pp. 1937-1940
    • Liu, E.1    Percy, M.J.2    Amos, C.I.3    Guan, Y.4    Shete, S.5    Stockton, D.W.6
  • 24
    • 0035012605 scopus 로고    scopus 로고
    • HEP-2 (neu) signaling increases the rate of hypoxia-inducible factor 1α (HIF-1α) synthesis: Novel mechanism for HIF-1-mediated vascular endothelial growth factor expression
    • Laughner E, Taghavi P, Chiles K, Mahon PC, Semenza GL. HEP-2 (neu) signaling increases the rate of hypoxia-inducible factor 1α (HIF-1α) synthesis: novel mechanism for HIF-1-mediated vascular endothelial growth factor expression. Mol Cell Biol 2001;21: 3995-4004.
    • (2001) Mol Cell Biol , vol.21 , pp. 3995-4004
    • Laughner, E.1    Taghavi, P.2    Chiles, K.3    Mahon, P.C.4    Semenza, G.L.5
  • 25
    • 0037370337 scopus 로고    scopus 로고
    • Soluble VEGF receptor Flt1: The elusive preeclampsia factor discovered?
    • Luttun A, Carmeliet P. Soluble VEGF receptor Flt1: the elusive preeclampsia factor discovered? J Clin Invest 2003; 111:600-2.
    • (2003) J Clin Invest , vol.111 , pp. 600-602
    • Luttun, A.1    Carmeliet, P.2
  • 28
    • 3042690648 scopus 로고    scopus 로고
    • Finding the novel molecular defect in a family with high erythropoietin autosomal dominant polycythemia
    • Abstract #4359
    • Maran J, Jedlickova K, Stockton D, Prchal JT. Finding the novel molecular defect in a family with high erythropoietin autosomal dominant polycythemia. Blood 2003;102:[Abstract #4359].
    • (2003) Blood , vol.102
    • Maran, J.1    Jedlickova, K.2    Stockton, D.3    Prchal, J.T.4
  • 31
    • 0025885417 scopus 로고
    • Autosomal dominant erythrocytosis causes by increased sensitivity to erythropoietin
    • Juvonen E, Ikkala E, Fyhrquist F, Ruutu T. Autosomal dominant erythrocytosis causes by increased sensitivity to erythropoietin. Blood 1991;78:3066-9.
    • (1991) Blood , vol.78 , pp. 3066-3069
    • Juvonen, E.1    Ikkala, E.2    Fyhrquist, F.3    Ruutu, T.4
  • 33
    • 0035106628 scopus 로고    scopus 로고
    • Pathogenetic mechanisms of polycythemia vera and congenital polycythemic disorders
    • Prchal JT. Pathogenetic mechanisms of polycythemia vera and congenital polycythemic disorders. Semin Hematol 2001;38:10-20.
    • (2001) Semin Hematol , vol.38 , pp. 10-20
    • Prchal, J.T.1
  • 34
    • 0024298329 scopus 로고
    • Idiopathic familial erythrocytosis. Report on a family with autosomal dominant inheritance
    • Queisser W, ME Heim, JM Schmitz, Worst P. Idiopathic familial erythrocytosis. Report on a family with autosomal dominant inheritance. Dtsch Med Wochenschr 1988;113:851-6.
    • (1988) Dtsch Med Wochenschr , vol.113 , pp. 851-856
    • Queisser, W.1    Me Heim, J.M.2    Schmitz Worst, P.3
  • 36
    • 79960970580 scopus 로고    scopus 로고
    • A novel erythropoietin receptor mutation associated with primary familial polycythemia and severe cardiovascular and peripheral vascular disease
    • abstract #937
    • Sokol L, Kralovics R, Hubbell GL, Prchal JT. A novel erythropoietin receptor mutation associated with primary familial polycythemia and severe cardiovascular and peripheral vascular disease. Blood 2001;98: [abstract #937].
    • (2001) Blood , vol.98
    • Sokol, L.1    Kralovics, R.2    Hubbell, G.L.3    Prchal, J.T.4
  • 37
    • 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 JW, Lodish HF. The cytoplasmic region of the erythropoietin receptor contains non-overlapping positive and negative growth-regulatory domains. Mol Cell Biol 1991; 11:1980-7.
    • (1991) Mol Cell Biol , vol.11 , pp. 1980-1987
    • D'Andrea, A.D.1    Yoshimura, A.2    Youssoufian, H.3    Zon, L.I.4    Koo, J.W.5    Lodish, H.F.6
  • 38
    • 0025328797 scopus 로고
    • The gene for the human erythropoietin receptor: Analysis of the coding sequence and assignment to chromosome 19p
    • 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 19p. Blood 1990;76:24-30.
    • (1990) Blood , vol.76 , pp. 24-30
    • Winkelmann, J.C.1    Penny, L.A.2    Deaven, L.L.3    Forget, B.G.4    Jenkins, R.B.5
  • 39
    • 0035970090 scopus 로고    scopus 로고
    • Mouse model of congenital polycythemia: Homologous replacement of murine gene by mutant human erythropoietin receptor gene
    • Divoky V, Liu Z, Ryan TM, Prchal JF, Townes TM, Prchal JT. Mouse model of congenital polycythemia: homologous replacement of murine gene by mutant human erythropoietin receptor gene. Proc Natl Acad Sci USA 2001;98: 986-91.
    • (2001) Proc Natl Acad Sci USA , vol.98 , pp. 986-991
    • Divoky, V.1    Liu, Z.2    Ryan, T.M.3    Prchal, J.F.4    Townes, T.M.5    Prchal, J.T.6
  • 40
    • 0035876167 scopus 로고    scopus 로고
    • The distal region and receptor tyrosines of the Epo receptor are non-essential for in vivo erythropoiesis
    • Zang H, Sato K, Nakajima H, McKay C, Ney PA, Ihle JN. The distal region and receptor tyrosines of the Epo receptor are non-essential for in vivo erythropoiesis. EMBO J 2001;20:3156-66.
    • (2001) EMBO J , vol.20 , pp. 3156-3166
    • Zang, H.1    Sato, K.2    Nakajima, H.3    McKay, C.4    Ney, P.A.5    Ihle, J.N.6
  • 41
    • 0034839931 scopus 로고    scopus 로고
    • Genetic heterogeneity of primary familial and congenital polycythemia
    • Kralovics R, JT Prchal. Genetic heterogeneity of primary familial and congenital polycythemia. Am J Hematol 2001;68:115-21.
    • (2001) Am J Hematol , vol.68 , pp. 115-121
    • Kralovics, R.1    Prchal, J.T.2
  • 42
    • 0242468094 scopus 로고    scopus 로고
    • Possible primary familial and congenital polycythemia locus at 7q22.1-7q22.2
    • Jedlickova K, Stockton DW, Prchal JT. Possible primary familial and congenital polycythemia locus at 7q22.1-7q22.2. Blood Cells Mol Dis 2003;31: 327-31.
    • (2003) Blood Cells Mol Dis , vol.31 , pp. 327-331
    • Jedlickova, K.1    Stockton, D.W.2    Prchal, J.T.3
  • 43
    • 0017144203 scopus 로고
    • Detection of mutant hemoglobins with altered affinity for oxygen. A simplified technique
    • Lichtman MA, Murphy MS, Adamson JW. Detection of mutant hemoglobins with altered affinity for oxygen. A simplified technique. Ann Intern Med 1976;84:517-20
    • (1976) Ann Intern Med , vol.84 , pp. 517-520
    • Lichtman, M.A.1    Murphy, M.S.2    Adamson, J.W.3
  • 44
    • 0343938897 scopus 로고    scopus 로고
    • Plasma erythropoietin concentrations in polycythaemia vera with special reference to myelosuppressive therapy
    • Andreasson B, Carneskog J, Lindstedt G, Lundberg PA, Swolin B, Wadenvik H, et al. Plasma erythropoietin concentrations in polycythaemia vera with special reference to myelosuppressive therapy. Leuk Lymphoma 2000;37: 189-95.
    • (2000) Leuk Lymphoma , vol.37 , pp. 189-195
    • Andreasson, B.1    Carneskog, J.2    Lindstedt, G.3    Lundberg, P.A.4    Swolin, B.5    Wadenvik, H.6
  • 45
    • 0034867323 scopus 로고    scopus 로고
    • Angiotensin-converting enzyme inhibition induces apoptosis in erythroid precursors and affects insulin-like growth factor-1 in posttransplantation erythrocytosis
    • Glicklich D, Burris L, Urban A, Tellis V, Greenstein S, Schechner R, et al. Angiotensin-converting enzyme inhibition induces apoptosis in erythroid precursors and affects insulin-like growth factor-1 in posttransplantation erythrocytosis. J Am Soc Nephrol 2001;12:1958-64.
    • (2001) J Am Soc Nephrol , vol.12 , pp. 1958-1964
    • Glicklich, D.1    Burris, L.2    Urban, A.3    Tellis, V.4    Greenstein, S.5    Schechner, R.6
  • 46
    • 0037089336 scopus 로고    scopus 로고
    • A novel mutation in the erythropoietin receptor gene is associated with familial erythrocytosis
    • Arcasoy MO, Karayal AF, Segal HM, Sinning JG, Forget BG. A novel mutation in the erythropoietin receptor gene is associated with familial erythrocytosis. Blood 2002;99:3066-9.
    • (2002) Blood , vol.99 , pp. 3066-3069
    • Arcasoy, M.O.1    Karayal, A.F.2    Segal, H.M.3    Sinning, J.G.4    Forget, B.G.5
  • 47
    • 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
    • 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;102:124-9.
    • (1998) J Clin Invest , vol.102 , pp. 124-129
    • Kralovics, R.1    Sokol, L.2    Prchal, J.T.3
  • 48
    • 0023589145 scopus 로고
    • Serum immunoreactive erythropoietin in children with cyanotic and acyanotic congenital heart disease
    • Haga P, Cotes PM, Till JA, Minty BD, Shineboume EA. Serum immunoreactive erythropoietin in children with cyanotic and acyanotic congenital heart disease. Blood 1987;170:822-6.
    • (1987) Blood , vol.170 , pp. 822-826
    • Haga, P.1    Cotes, P.M.2    Till, J.A.3    Minty, B.D.4    Shineboume, E.A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.