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Volumn 42, Issue 4, 2005, Pages 266-273

Lessons from familial myeloproliferative disorders

Author keywords

[No Author keywords available]

Indexed keywords

ASPARAGINE; ERYTHROPOIETIN; SERINE;

EID: 25844453885     PISSN: 00371963     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.seminhematol.2005.08.002     Document Type: Article
Times cited : (38)

References (81)
  • 3
    • 0028146159 scopus 로고
    • Anti-erythropoietin (EPO) receptor monoclonal antibodies distinguish EPO-dependent and EPO-independent erythroid progenitors in polycythemia vera
    • M.J. Fisher, J.F. Prchal, J.T. Prchal, A.D. D'Andrea Anti-erythropoietin (EPO) receptor monoclonal antibodies distinguish EPO-dependent and EPO-independent erythroid progenitors in polycythemia vera Blood 84 1994 1982 1991
    • (1994) Blood , vol.84 , pp. 1982-1991
    • Fisher, M.J.1    Prchal, J.F.2    Prchal, J.T.3    D'Andrea, A.D.4
  • 4
    • 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
    • E. Liu, J. Jelinek, Y.D. Pastore, Y. Guan, J.F. Prchal, J.T. Prchal Discrimination of polycythemias and thrombocytoses by novel, simple, accurate clonality assays and comparison with PRV-1 expression and BFU-E response to erythropoietin Blood 101 2003 3294 3301
    • (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
  • 5
    • 14644441737 scopus 로고    scopus 로고
    • Polycythemia vera and other primary polycythemias
    • J.T. Prchal Polycythemia vera and other primary polycythemias Curr Opin Hematol 12 2005 112 116
    • (2005) Curr Opin Hematol , vol.12 , pp. 112-116
    • Prchal, J.T.1
  • 6
    • 0029050709 scopus 로고
    • Primary familial polycythemia: A frameshift mutation in the erythropoietin receptor gene and increased sensitivity of erythroid progenitors to erythropoietin
    • L. Sokol, M. Luhovy, Y. Guan, J.F. Prchal, G.L. Semenza, J.T. Prchal Primary familial polycythemia A frameshift mutation in the erythropoietin receptor gene and increased sensitivity of erythroid progenitors to erythropoietin Blood 86 1995 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
  • 7
    • 0025885417 scopus 로고
    • Autosomal dominant erythrocytosis caused by increased sensitivity to erythropoietin
    • E. Juvonen, E. Ikkala, F. Fyhrquist, T. Ruutu Autosomal dominant erythrocytosis caused by increased sensitivity to erythropoietin Blood 78 1991 3066 3069
    • (1991) Blood , vol.78 , pp. 3066-3069
    • Juvonen, E.1    Ikkala, E.2    Fyhrquist, F.3    Ruutu, T.4
  • 8
    • 0030954685 scopus 로고    scopus 로고
    • Two new EPO receptor mutations: Truncated EPO receptors are most frequently associated with primary familial and congenital polycythemias
    • R. Kralovics, K. Indrak, T. Stopka, B.W. Berman, J.F. Prchal, J.T. Prchal Two new EPO receptor mutations Truncated EPO receptors are most frequently associated with primary familial and congenital polycythemias Blood 90 1997 2057 2061
    • (1997) Blood , vol.90 , pp. 2057-2061
    • Kralovics, R.1    Indrak, K.2    Stopka, T.3    Berman, B.W.4    Prchal, J.F.5    Prchal, J.T.6
  • 9
    • 0034839931 scopus 로고    scopus 로고
    • Genetic heterogeneity of primary familial and congenital polycythemia
    • R. Kralovics, J.T. Prchal Genetic heterogeneity of primary familial and congenital polycythemia Am J Hematol 68 2001 115 121
    • (2001) Am J Hematol , vol.68 , pp. 115-121
    • Kralovics, R.1    Prchal, J.T.2
  • 10
    • 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
    • R. Kralovics, L. Sokol, J.T. Prchal Absence of polycythemia in a child with a unique erythropoietin receptor mutation in a family with autosomal dominant primary polycythemia J Clin Invest 102 1998 124 129
    • (1998) J Clin Invest , vol.102 , pp. 124-129
    • Kralovics, R.1    Sokol, L.2    Prchal, J.T.3
  • 11
    • 0037767746 scopus 로고    scopus 로고
    • Expression of erythropoietin receptor splice variants in human cancer
    • M.O. Arcasoy, X. Jiang, Z.A. Haroon Expression of erythropoietin receptor splice variants in human cancer Biochem Biophys Res Commun 307 2003 999 1007
    • (2003) Biochem Biophys Res Commun , vol.307 , pp. 999-1007
    • Arcasoy, M.O.1    Jiang, X.2    Haroon, Z.A.3
  • 12
    • 0028034396 scopus 로고
    • Molecular analysis of the erythropoietin receptor system in patients with polycythaemia vera
    • G. Hess, P. Rose, H. Gamm, S. Papadileris, C. Huber, B. Seliger Molecular analysis of the erythropoietin receptor system in patients with polycythaemia vera Br J Haematol 88 1994 794 802
    • (1994) Br J Haematol , vol.88 , pp. 794-802
    • Hess, G.1    Rose, P.2    Gamm, H.3    Papadileris, S.4    Huber, C.5    Seliger, B.6
  • 13
    • 0030021792 scopus 로고    scopus 로고
    • Missense mutation of the erythropoietin receptor is a rare event in human erythroid malignancies
    • J.P. Le Couedic, M.T. Mitjavila, J.L. Villeval Missense mutation of the erythropoietin receptor is a rare event in human erythroid malignancies Blood 87 1996 1502 1511
    • (1996) Blood , vol.87 , pp. 1502-1511
    • Le Couedic, J.P.1    Mitjavila, M.T.2    Villeval, J.L.3
  • 14
    • 0030723152 scopus 로고    scopus 로고
    • The erythropoietin receptor gene is not linked with the polycythemia phenotype in a family with autosomal dominant primary polycythemia
    • R. Kralovics, L. Sokol, E.H. Broxson Jr, J.T. Prchal The erythropoietin receptor gene is not linked with the polycythemia phenotype in a family with autosomal dominant primary polycythemia Proc Assoc Am Physicians 109 1997 580 585
    • (1997) Proc Assoc Am Physicians , vol.109 , pp. 580-585
    • Kralovics, R.1    Sokol, L.2    Broxson Jr., E.H.3    Prchal, J.T.4
  • 15
    • 0027241944 scopus 로고
    • Primary familial and congenital polycythaemia is a heterogeneous disorder
    • L. Sokol, J. Prchal, J.T. Prchal Primary familial and congenital polycythaemia is a heterogeneous disorder Lancet 342 1993 115 116 (letter)
    • (1993) Lancet , vol.342 , pp. 115-116
    • Sokol, L.1    Prchal, J.2    Prchal, J.T.3
  • 16
    • 25844462209 scopus 로고    scopus 로고
    • Serum erythropoietin and diagnosis of polycythemic states: Response to Dr. Van Maerken
    • V. Gordeuk, J.T. Prchal Serum erythropoietin and diagnosis of polycythemic states Response to Dr. Van Maerken Haematologica 2005 ELT(05), (e-letter)
    • (2005) Haematologica
    • Gordeuk, V.1    Prchal, J.T.2
  • 18
    • 0027215519 scopus 로고
    • Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis
    • A. de la Chapelle, A.L. Träskelin, E. Juvonen Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis Proc Natl Acad Sci USA 90 1993 4495 4499
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 4495-4499
    • De La Chapelle, A.1    Träskelin, A.L.2    Juvonen, E.3
  • 19
    • 0031935867 scopus 로고    scopus 로고
    • Erythrocytosis due to a mutation in the erythropoietin receptor gene
    • M.J. Percy, M.F. McMullin, A.W. Roques Erythrocytosis due to a mutation in the erythropoietin receptor gene Br J Haematol 100 1998 407 410
    • (1998) Br J Haematol , vol.100 , pp. 407-410
    • Percy, M.J.1    McMullin, M.F.2    Roques, A.W.3
  • 20
    • 9844244548 scopus 로고    scopus 로고
    • Primary familial polycythaemia associated with a novel point mutation in the erythropoietin receptor
    • T. Furukawa, M. Narita, M. Sakaue Primary familial polycythaemia associated with a novel point mutation in the erythropoietin receptor Br J Haematol 99 1997 222 227
    • (1997) Br J Haematol , vol.99 , pp. 222-227
    • Furukawa, T.1    Narita, M.2    Sakaue, M.3
  • 21
    • 0030986297 scopus 로고    scopus 로고
    • Familial erythrocytosis associated with a short deletion in the erythropoietin receptor gene
    • M.O. Arcasoy, B.A. Degar, K.W. Harris, B.G. Forget Familial erythrocytosis associated with a short deletion in the erythropoietin receptor gene Blood 89 1997 4628 4635
    • (1997) Blood , vol.89 , pp. 4628-4635
    • Arcasoy, M.O.1    Degar, B.A.2    Harris, K.W.3    Forget, B.G.4
  • 22
    • 0033215521 scopus 로고    scopus 로고
    • Erythropoietin receptor mutations associated with familial erythrocytosis cause hypersensitivity to erythropoietin in the heterozygous state
    • S.S. Watowich, X. Xie, U. Klingmuller Erythropoietin receptor mutations associated with familial erythrocytosis cause hypersensitivity to erythropoietin in the heterozygous state Blood 94 1999 2530 2532
    • (1999) Blood , vol.94 , pp. 2530-2532
    • Watowich, S.S.1    Xie, X.2    Klingmuller, U.3
  • 23
    • 0031975482 scopus 로고    scopus 로고
    • An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia
    • A. Wiestner, R.J. Schlemper, A.P. van der Maas, R.C. Skoda An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia Nature Genet 18 1998 49 52
    • (1998) Nature Genet , vol.18 , pp. 49-52
    • Wiestner, A.1    Schlemper, R.J.2    Van Der Maas, A.P.3    Skoda, R.C.4
  • 24
    • 0032529663 scopus 로고    scopus 로고
    • Familial essential thrombocythemia associated with one-base deletion in the 5′-untranslated region of the thrombopoietin gene
    • T. Kondo, M. Okabe, M. Sanada Familial essential thrombocythemia associated with one-base deletion in the 5′-untranslated region of the thrombopoietin gene Blood 92 1998 1091 1096
    • (1998) Blood , vol.92 , pp. 1091-1096
    • Kondo, T.1    Okabe, M.2    Sanada, M.3
  • 25
    • 0033566796 scopus 로고    scopus 로고
    • A single-base deletion in the thrombopoietin (TPO) gene causes familial essential thrombocytosis through a mechanism of more efficient translation of TPO mRNA
    • N. Ghilardi, R.C. Skoda A single-base deletion in the thrombopoietin (TPO) gene causes familial essential thrombocytosis through a mechanism of more efficient translation of TPO mRNA Blood 94 1999 1480 1482 (letter)
    • (1999) Blood , vol.94 , pp. 1480-1482
    • Ghilardi, N.1    Skoda, R.C.2
  • 26
    • 0032757997 scopus 로고    scopus 로고
    • Hereditary thrombocythemia in a Japanese family is caused by a novel point mutation in the thrombopoietin gene
    • N. Ghilardi, A. Wiestner, M. Kikuchi, A. Oshaka, R.C. Skoda Hereditary thrombocythemia in a Japanese family is caused by a novel point mutation in the thrombopoietin gene Br J Haematol 107 1999 310 316
    • (1999) Br J Haematol , vol.107 , pp. 310-316
    • Ghilardi, N.1    Wiestner, A.2    Kikuchi, M.3    Oshaka, A.4    Skoda, R.C.5
  • 27
    • 0001651349 scopus 로고    scopus 로고
    • Familial thrombocytosis associated with overproduction of thrombopoietin due to a novel splice donor site mutation
    • M.J. Jorgensen, W.H. Raskind, J.F. Wolff, H.R. Bachrach, K. Kaushansky Familial thrombocytosis associated with overproduction of thrombopoietin due to a novel splice donor site mutation Blood 92 1998 205a (suppl 1, abstr)
    • (1998) Blood , vol.92
    • Jorgensen, M.J.1    Raskind, W.H.2    Wolff, J.F.3    Bachrach, H.R.4    Kaushansky, K.5
  • 28
    • 0034210637 scopus 로고    scopus 로고
    • Translational pathophysiology: A novel molecular mechanism of human disease
    • M. Cazzola, R.C. Skoda Translational pathophysiology A novel molecular mechanism of human disease Blood 95 2000 3280 3288
    • (2000) Blood , vol.95 , pp. 3280-3288
    • Cazzola, M.1    Skoda, R.C.2
  • 29
    • 0031668547 scopus 로고    scopus 로고
    • The activating splice mutation in intron 3 of the thrombopoietin gene is not found in patients with non-familial essential thrombocythaemia
    • C.N. Harrison, R.E. Gale, A.C. Wiestner, R.C. Skoda, D.C. Linch The activating splice mutation in intron 3 of the thrombopoietin gene is not found in patients with non-familial essential thrombocythaemia Br J Haematol 102 1998 1341 1343
    • (1998) Br J Haematol , vol.102 , pp. 1341-1343
    • Harrison, C.N.1    Gale, R.E.2    Wiestner, A.C.3    Skoda, R.C.4    Linch, D.C.5
  • 30
    • 9644284254 scopus 로고    scopus 로고
    • Familial essentian thrombocythemia associated with a dominant positive acting mutation of the c-MPL gene, which encodes for the receptor for thrombopoietin
    • H. Komatsu, J. Ding, M. Iida Familial essentian thrombocythemia associated with a dominant positive acting mutation of the c-MPL gene, which encodes for the receptor for thrombopoietin Blood 102 2003 198 200
    • (2003) Blood , vol.102 , pp. 198-200
    • Komatsu, H.1    Ding, J.2    Iida, M.3
  • 31
    • 0029794142 scopus 로고    scopus 로고
    • Identification of an oncogenic form of the thrombopoietin receptor MPL using retrovirus-mediated gene transfer
    • M. Onishi, A.L.F. Mui, Y. Morikawa Identification of an oncogenic form of the thrombopoietin receptor MPL using retrovirus-mediated gene transfer Blood 88 1996 1399 1406
    • (1996) Blood , vol.88 , pp. 1399-1406
    • Onishi, M.1    Mui, A.L.F.2    Morikawa, Y.3
  • 32
    • 0032188818 scopus 로고    scopus 로고
    • Activating mutations of the transmembrane domain of MPL in vitro and in vivo: Incorrect sequence of MPL-K, an alternative spliced form of MPL
    • T. Kitamura, M. Onishi, T. Yahata, Y. Kanakura, S. Asano Activating mutations of the transmembrane domain of MPL in vitro and in vivo Incorrect sequence of MPL-K, an alternative spliced form of MPL Blood 92 1998 2596 2597 (letter)
    • (1998) Blood , vol.92 , pp. 2596-2597
    • Kitamura, T.1    Onishi, M.2    Yahata, T.3    Kanakura, Y.4    Asano, S.5
  • 33
    • 0031888876 scopus 로고    scopus 로고
    • Genes for thrombopoietin and c-mpl are not responsible for familial thrombocythaemia: A case study
    • S. Kunishima, S. Mizuno, T. Naoe, H. Saito, T. Kamiya Genes for thrombopoietin and c-mpl are not responsible for familial thrombocythaemia A case study Br J Haematol 100 1998 383 386
    • (1998) Br J Haematol , vol.100 , pp. 383-386
    • Kunishima, S.1    Mizuno, S.2    Naoe, T.3    Saito, H.4    Kamiya, T.5
  • 34
    • 0033897370 scopus 로고    scopus 로고
    • Hereditary thrombocythaemia is a genetically heterogeneous disorder: Exclusion of TPO and MPL in two families with hereditary thrombocythaemia
    • A. Wiestner, S.A. Padosch, N. Ghilardi Hereditary thrombocythaemia is a genetically heterogeneous disorder exclusion of TPO and MPL in two families with hereditary thrombocythaemia Br J Haematol 110 2000 104 109
    • (2000) Br J Haematol , vol.110 , pp. 104-109
    • Wiestner, A.1    Padosch, S.A.2    Ghilardi, N.3
  • 35
    • 0032913316 scopus 로고    scopus 로고
    • Autonomous megakaryocyte growth in essential thrombocythemia and idiopathic myelofibrosis is not related to a c-mpl mutation or to an autocrine stimulation by Mpl-L
    • A.L. Taksin, J.P. Couedic, I. Dusanter-Fourt Autonomous megakaryocyte growth in essential thrombocythemia and idiopathic myelofibrosis is not related to a c-mpl mutation or to an autocrine stimulation by Mpl-L Blood 93 1999 125 139
    • (1999) Blood , vol.93 , pp. 125-139
    • Taksin, A.L.1    Couedic, J.P.2    Dusanter-Fourt, I.3
  • 36
    • 0016212656 scopus 로고
    • Thrombocythaemia: Familial occurrence and transition into blastic crisis
    • M. Fickers, B. Speck Thrombocythaemia Familial occurrence and transition into blastic crisis Acta Haematol 51 1974 257 265
    • (1974) Acta Haematol , vol.51 , pp. 257-265
    • Fickers, M.1    Speck, B.2
  • 39
    • 0031554532 scopus 로고    scopus 로고
    • Familial essential thrombocythemia associated with von Willebrand disease
    • C. Ulibarrena, A.M. Vecino, J. Odriozola, J.M. Cesar Familial essential thrombocythemia associated with von Willebrand disease Med Clin (Barc) 109 1997 237 (letter)
    • (1997) Med Clin (Barc) , vol.109 , pp. 237
    • Ulibarrena, C.1    Vecino, A.M.2    Odriozola, J.3    Cesar, J.M.4
  • 40
    • 0025780381 scopus 로고
    • Benign familial thrombocytosis
    • E.C. Williams, N.T. Shahidi Benign familial thrombocytosis Am J Hematol 37 1991 124 125
    • (1991) Am J Hematol , vol.37 , pp. 124-125
    • Williams, E.C.1    Shahidi, N.T.2
  • 41
    • 0030875155 scopus 로고    scopus 로고
    • Benign familial microcytic thrombocytosis with autosomal dominant transmission
    • N. Cohen, D. Almoznino-Sarafian, J. Weissgarten Benign familial microcytic thrombocytosis with autosomal dominant transmission Clin Genet 52 1997 47 50
    • (1997) Clin Genet , vol.52 , pp. 47-50
    • Cohen, N.1    Almoznino-Sarafian, D.2    Weissgarten, J.3
  • 42
    • 15244353967 scopus 로고    scopus 로고
    • X-inactivation profile reveals extensive variability in X-linked gene expression in females
    • L. Carrel, H.F. Willard X-inactivation profile reveals extensive variability in X-linked gene expression in females Nature 434 2005 400 404
    • (2005) Nature , vol.434 , pp. 400-404
    • Carrel, L.1    Willard, H.F.2
  • 43
    • 0002826398 scopus 로고
    • The normal human female as a mosaic of X-chromosome activity: Studies using the gene for C-6-PD-deficiency as a marker
    • E. Beutler, M. Yeh, V.F. Fairbanks The normal human female as a mosaic of X-chromosome activity Studies using the gene for C-6-PD-deficiency as a marker Proc Natl Acad Sci USA 48 1962 9 16
    • (1962) Proc Natl Acad Sci USA , vol.48 , pp. 9-16
    • Beutler, E.1    Yeh, M.2    Fairbanks, V.F.3
  • 44
    • 0021992165 scopus 로고
    • Use of restriction fragment length polymorphisms to determine the clonal origin of human tumors
    • B. Vogelstein, E.R. Fearon, S.R. Hamilton, A.P. Feinberg Use of restriction fragment length polymorphisms to determine the clonal origin of human tumors Science 227 1985 642 645
    • (1985) Science , vol.227 , pp. 642-645
    • Vogelstein, B.1    Fearon, E.R.2    Hamilton, S.R.3    Feinberg, A.P.4
  • 45
    • 0023109203 scopus 로고
    • Carrier detection in X-linked agammaglobulinemia by analysis of X-chromosome inactivation
    • E.R. Fearon, J.A. Winkelstein, C.I. Civin, D.M. Pardoll, B. Vogelstein Carrier detection in X-linked agammaglobulinemia by analysis of X-chromosome inactivation N Engl J Med 316 1987 427 431
    • (1987) N Engl J Med , vol.316 , pp. 427-431
    • Fearon, E.R.1    Winkelstein, J.A.2    Civin, C.I.3    Pardoll, D.M.4    Vogelstein, B.5
  • 46
    • 0025233690 scopus 로고
    • A highly informative X-chromosome probe, M27 beta, can be used for the determination of tumour clonality
    • G. Abrahamson, N.J. Fraser, J. Boyd, I. Craig, J.S. Wainscoat A highly informative X-chromosome probe, M27 beta, can be used for the determination of tumour clonality Br J Haematol 74 1990 371 372
    • (1990) Br J Haematol , vol.74 , pp. 371-372
    • Abrahamson, G.1    Fraser, N.J.2    Boyd, J.3    Craig, I.4    Wainscoat, J.S.5
  • 47
    • 0026075627 scopus 로고
    • Clonality in myeloproliferative disorders: Analysis by means of the polymerase chain reaction
    • D.G. Gilliland, K.L. Blanchard, J. Levy, S. Perrin, H.F. Bunn Clonality in myeloproliferative disorders Analysis by means of the polymerase chain reaction Proc Natl Acad Sci USA 88 1991 6848 6852
    • (1991) Proc Natl Acad Sci USA , vol.88 , pp. 6848-6852
    • Gilliland, D.G.1    Blanchard, K.L.2    Levy, J.3    Perrin, S.4    Bunn, H.F.5
  • 49
    • 0027454606 scopus 로고
    • Transcriptional analysis of the active X-chromosome in normal and clonal hematopoiesis
    • J.T. Prchal, Y.L. Guan, J.F. Prchal, F. Barany Transcriptional analysis of the active X-chromosome in normal and clonal hematopoiesis Blood 81 1993 269 271 (letter)
    • (1993) Blood , vol.81 , pp. 269-271
    • Prchal, J.T.1    Guan, Y.L.2    Prchal, J.F.3    Barany, F.4
  • 51
    • 0034019735 scopus 로고    scopus 로고
    • A polymorphism of the X-linked gene IDS increases the number of females informative for transcriptional clonality assays
    • X.T. Gregg, R. Kralovics, J.T. Prchal A polymorphism of the X-linked gene IDS increases the number of females informative for transcriptional clonality assays Am J Hematol 63 2000 184 191
    • (2000) Am J Hematol , vol.63 , pp. 184-191
    • Gregg, X.T.1    Kralovics, R.2    Prchal, J.T.3
  • 52
    • 0036191941 scopus 로고    scopus 로고
    • Acquired uniparental disomy of chromosome 9p is a frequent stem cell defect in polycythemia vera
    • R. Kralovics, Y. Guan, J.T. Prchal Acquired uniparental disomy of chromosome 9p is a frequent stem cell defect in polycythemia vera Exp Hematol 30 2002 229 236
    • (2002) Exp Hematol , vol.30 , pp. 229-236
    • Kralovics, R.1    Guan, Y.2    Prchal, J.T.3
  • 53
    • 0016391236 scopus 로고
    • Bone-marrow responses in polycythemia vera
    • J.F. Prchal, A.A. Axelrad Bone-marrow responses in polycythemia vera N Engl J Med 290 1974 1382 (letter)
    • (1974) N Engl J Med , vol.290 , pp. 1382
    • Prchal, J.F.1    Axelrad, A.A.2
  • 54
    • 0036111623 scopus 로고    scopus 로고
    • Endemic polycythemia in Russia: Mutation in the VHL gene
    • S.O. Ang, H. Chen, V.R. Gordeuk Endemic polycythemia in Russia Mutation in the VHL gene Blood Cells Mol Dis 28 2002 57 62
    • (2002) Blood Cells Mol Dis , vol.28 , pp. 57-62
    • Ang, S.O.1    Chen, H.2    Gordeuk, V.R.3
  • 55
    • 0024580388 scopus 로고
    • Comparison of erythroid progenitor cell growth in vitro in polycythemia vera and chronic myelogenous leukemia: Only polycythemia vera has endogenous colonies
    • R.S. Weinberg, A. Worsley, H.S. Gilbert, J. Cuttner, P.D. Berk, B.P. Alter Comparison of erythroid progenitor cell growth in vitro in polycythemia vera and chronic myelogenous leukemia Only polycythemia vera has endogenous colonies Leuk Res 13 1989 331 338
    • (1989) Leuk Res , vol.13 , pp. 331-338
    • Weinberg, R.S.1    Worsley, A.2    Gilbert, H.S.3    Cuttner, J.4    Berk, P.D.5    Alter, B.P.6
  • 56
    • 0031041432 scopus 로고    scopus 로고
    • In vitro erythropoiesis in polycythemia vera and other myeloproliferative disorders
    • R.S. Weinberg In vitro erythropoiesis in polycythemia vera and other myeloproliferative disorders Semin Hematol 34 1997 64 69
    • (1997) Semin Hematol , vol.34 , pp. 64-69
    • Weinberg, R.S.1
  • 57
    • 0018163444 scopus 로고
    • Erythropoietin (Ep) dose-response curves for three classes of erythroid progenitors in normal human marrow and in patients with polycythemia vera
    • C.J. Eaves, A.C. Eaves Erythropoietin (Ep) dose-response curves for three classes of erythroid progenitors in normal human marrow and in patients with polycythemia vera Blood 52 1978 1196 1210
    • (1978) Blood , vol.52 , pp. 1196-1210
    • Eaves, C.J.1    Eaves, A.C.2
  • 58
    • 0020522444 scopus 로고
    • Individual BFU-E in polycythemia vera produce both erythropoietin dependent and independent progeny
    • J. Cashman, D. Henkelman, K. Humphries, C. Eaves, A. Eaves Individual BFU-E in polycythemia vera produce both erythropoietin dependent and independent progeny Blood 61 1983 876 884
    • (1983) Blood , vol.61 , pp. 876-884
    • Cashman, J.1    Henkelman, D.2    Humphries, K.3    Eaves, C.4    Eaves, A.5
  • 59
    • 0041940289 scopus 로고    scopus 로고
    • Comparison of molecular markers in a cohort of patients with chronic myeloproliferative disorders
    • R. Kralovics, A.S. Buser, S.S. Teo Comparison of molecular markers in a cohort of patients with chronic myeloproliferative disorders Blood 102 2003 1869 1871
    • (2003) Blood , vol.102 , pp. 1869-1871
    • Kralovics, R.1    Buser, A.S.2    Teo, S.S.3
  • 60
    • 17844383458 scopus 로고    scopus 로고
    • A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera
    • C. James, V. Ugo, J.P. Le Couedic A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera Nature 434 2005 1144 1148
    • (2005) Nature , vol.434 , pp. 1144-1148
    • James, C.1    Ugo, V.2    Le Couedic, J.P.3
  • 61
    • 20244369569 scopus 로고    scopus 로고
    • Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis
    • R.L. Levine, M. Wadleigh, J. Cools Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis Cancer Cell 7 2005 387 397
    • (2005) Cancer Cell , vol.7 , pp. 387-397
    • Levine, R.L.1    Wadleigh, M.2    Cools, J.3
  • 62
    • 17644424955 scopus 로고    scopus 로고
    • A gain-of-function mutation of JAK2 in myeloproliferative disorders
    • R. Kralovics, F. Passamonti, A.S. Buser A gain-of-function mutation of JAK2 in myeloproliferative disorders N Engl J Med 352 2005 1779 1790
    • (2005) N Engl J Med , vol.352 , pp. 1779-1790
    • Kralovics, R.1    Passamonti, F.2    Buser, A.S.3
  • 63
    • 20144363192 scopus 로고    scopus 로고
    • Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders
    • E.J. Baxter, L.M. Scott, P.J. Campbell Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders Lancet 365 2005 1054 1061
    • (2005) Lancet , vol.365 , pp. 1054-1061
    • Baxter, E.J.1    Scott, L.M.2    Campbell, P.J.3
  • 64
    • 0035106628 scopus 로고    scopus 로고
    • Pathogenetic mechanisms of polycythemia vera and congenital polycythemic disorders
    • J.T. Prchal Pathogenetic mechanisms of polycythemia vera and congenital polycythemic disorders Semin Hematol 38 2001 10 20
    • (2001) Semin Hematol , vol.38 , pp. 10-20
    • Prchal, J.T.1
  • 65
    • 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
    • W.D. Ratnoff, R.E. Gress 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 56 1980 233 236
    • (1980) Blood , vol.56 , pp. 233-236
    • Ratnoff, W.D.1    Gress, R.E.2
  • 67
    • 0030024757 scopus 로고    scopus 로고
    • Familial polycythemia vera in father and daughter
    • T. Inaba, C. Shimazaki, H. Hirai Familial polycythemia vera in father and daughter Am J Hematol 51 1996 172 (letter)
    • (1996) Am J Hematol , vol.51 , pp. 172
    • Inaba, T.1    Shimazaki, C.2    Hirai, H.3
  • 68
    • 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
    • R. Kralovics, D.W. Stockton, J.T. Prchal Clonal hematopoiesis in familial polycythemia vera suggests the involvement of multiple mutational events in the early pathogenesis of the disease Blood 102 2003 3793 3797
    • (2003) Blood , vol.102 , pp. 3793-3797
    • Kralovics, R.1    Stockton, D.W.2    Prchal, J.T.3
  • 69
    • 0030021624 scopus 로고    scopus 로고
    • Clonal stability of blood cell lineages indicated by X-chromosomal transcriptional polymorphism
    • J.T. Prchal, J.F. Prchal, M. Belickova Clonal stability of blood cell lineages indicated by X-chromosomal transcriptional polymorphism J Exp Med 183 1996 561 567
    • (1996) J Exp Med , vol.183 , pp. 561-567
    • Prchal, J.T.1    Prchal, J.F.2    Belickova, M.3
  • 70
    • 20744460045 scopus 로고    scopus 로고
    • Identification of an acquired JAK2 mutation in polycythemia vera
    • R. Zhao, S. Xing, Z. Li Identification of an acquired JAK2 mutation in polycythemia vera J Biol Chem 280 2005 22788 22792
    • (2005) J Biol Chem , vol.280 , pp. 22788-22792
    • Zhao, R.1    Xing, S.2    Li, Z.3
  • 71
    • 21344467318 scopus 로고    scopus 로고
    • Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders
    • A.V. Jones, S. Kreil, K. Zoi Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders Blood 2005 [Epub ahead of print]
    • (2005) Blood
    • Jones, A.V.1    Kreil, S.2    Zoi, K.3
  • 72
    • 21344440357 scopus 로고    scopus 로고
    • The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both "atypical" myeloproliferative disorders and the myelodysplastic syndrome
    • D.P. Steensma, G.W. Dewald, T.L. Lasho The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both "atypical" myeloproliferative disorders and the myelodysplastic syndrome Blood 106 2005 1207 1209
    • (2005) Blood , vol.106 , pp. 1207-1209
    • Steensma, D.P.1    Dewald, G.W.2    Lasho, T.L.3
  • 73
    • 0031040770 scopus 로고    scopus 로고
    • Erythropoietin receptor mutations and human disease
    • X.T. Gregg, J.T. Prchal Erythropoietin receptor mutations and human disease Semin Hematol 34 1997 70 76
    • (1997) Semin Hematol , vol.34 , pp. 70-76
    • Gregg, X.T.1    Prchal, J.T.2
  • 74
    • 0036362911 scopus 로고    scopus 로고
    • Clonality studies in cancer based on X chromosome inactivation phenomenon
    • J.T. Phelan 2nd, J.T. Prchal Clonality studies in cancer based on X chromosome inactivation phenomenon Methods Mol Med 68 2002 251 270
    • (2002) Methods Mol Med , vol.68 , pp. 251-270
    • Phelan III, J.T.1    Prchal, J.T.2
  • 75
    • 0036439588 scopus 로고    scopus 로고
    • Exploring polycythaemia vera with fluorescence in situ hybridization: Additional cryptic 9p is the most frequent abnormality detected
    • V. Najfeld, L. Montella, A. Scalise, S. Fruchtman Exploring polycythaemia vera with fluorescence in situ hybridization additional cryptic 9p is the most frequent abnormality detected Br J Haematol 119 2002 558 566
    • (2002) Br J Haematol , vol.119 , pp. 558-566
    • Najfeld, V.1    Montella, L.2    Scalise, A.3    Fruchtman, S.4
  • 76
    • 0031815057 scopus 로고    scopus 로고
    • Comparison of four sib-pair linkage methods for analyzing sibships with more than two affecteds: Interest of the binomial maximum likelihood approach
    • L. Abel, A. Alcais, A. Mallet Comparison of four sib-pair linkage methods for analyzing sibships with more than two affecteds Interest of the binomial maximum likelihood approach Genet Epidemiol 15 1998 371 390
    • (1998) Genet Epidemiol , vol.15 , pp. 371-390
    • Abel, L.1    Alcais, A.2    Mallet, A.3
  • 77
    • 0033361901 scopus 로고    scopus 로고
    • Using exact P values to compare the power between the reconstruction-combined transmission/disequilibrium test and the sib transmission/disequilibrium test
    • M. Knapp Using exact P values to compare the power between the reconstruction-combined transmission/disequilibrium test and the sib transmission/disequilibrium test Am J Hum Genet 65 1999 1208 1210
    • (1999) Am J Hum Genet , vol.65 , pp. 1208-1210
    • Knapp, M.1
  • 78
    • 1542270268 scopus 로고    scopus 로고
    • A marginal likelihood model for family-based data
    • S.H. Lo, X. Liu, Y. Shao A marginal likelihood model for family-based data Ann Hum Genet 67 2003 357 366
    • (2003) Ann Hum Genet , vol.67 , pp. 357-366
    • Lo, S.H.1    Liu, X.2    Shao, Y.3
  • 79
    • 0038077490 scopus 로고    scopus 로고
    • Adjusting for population heterogeneity: A framework for characterizing statistical information and developing efficient test statistics
    • D. Rabinowitz Adjusting for population heterogeneity A framework for characterizing statistical information and developing efficient test statistics Genet Epidemiol 24 2003 284 290
    • (2003) Genet Epidemiol , vol.24 , pp. 284-290
    • Rabinowitz, D.1
  • 81
    • 85059047879 scopus 로고    scopus 로고
    • Phenotypic description of familial chronic myeloproliferative disorders
    • A. Najman, I. Chaumarel, C. Bellanne-Chantelot Phenotypic description of familial chronic myeloproliferative disorders Blood 104 2004 190a (abstr)
    • (2004) Blood , vol.104
    • Najman, A.1    Chaumarel, I.2    Bellanne-Chantelot, C.3


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