-
1
-
-
23844552419
-
Guidelines for the diagnosis, investigation and management of polycythaemia/erythrocytosis
-
McMullin, MF, Bareford, D., Campbell, P., Green, AR, Harrison, C., Hunt, B., Oscier, D., Polkey, MI, Reilly, JT, Rosenthal, E., Ryan, K., Pearson, TC and Wilkins, B. (2005) Guidelines for the diagnosis, investigation and management of polycythaemia/erythrocytosis. Br J Haematol, 130, pp. 174-195.
-
(2005)
Br J Haematol
, vol.130
, pp. 174-195
-
-
McMullin, M.F.1
Bareford, D.2
Campbell, P.3
Green, A.R.4
Harrison, C.5
Hunt, B.6
Oscier, D.7
Polkey, M.I.8
Reilly, J.T.9
Rosenthal, E.10
Ryan, K.11
Pearson, T.C.12
Wilkins, B.13
-
2
-
-
33646429625
-
Mutations in the VHL gene are the major identified cause of inherited erythrocytosis
-
Percy, MJ, Jones, FGC, Lappin, TRJ and McMullin, MF (2005) Mutations in the VHL gene are the major identified cause of inherited erythrocytosis. Blood, 106, p. 169a.
-
(2005)
Blood
, vol.106
-
-
Percy, M.J.1
Jones, F.G.C.2
Lappin, T.R.J.3
McMullin, M.F.4
-
4
-
-
0026494916
-
Hypoxic induction of the human erythropoietin gene: Cooperation between the promoter and enhancer, each of which contains steroid receptor response elements
-
Blanchard, KL, Acquaviva, AM, Galson, DL and Bunn, HF (1992) Hypoxic induction of the human erythropoietin gene: Cooperation between the promoter and enhancer, each of which contains steroid receptor response elements. Mol Cell Biol, 12, pp. 5373-5385.
-
(1992)
Mol Cell Biol
, vol.12
, pp. 5373-5385
-
-
Blanchard, K.L.1
Acquaviva, A.M.2
Galson, D.L.3
Bunn, H.F.4
-
5
-
-
0034901463
-
Hypoxia-inducible factor 1: Oxygen homeostasis and disease pathophysiology
-
Semenza, GL (2001) Hypoxia-inducible factor 1: Oxygen homeostasis and disease pathophysiology. Trends Mol Med, 7, pp. 345-350.
-
(2001)
Trends Mol Med
, vol.7
, pp. 345-350
-
-
Semenza, G.L.1
-
6
-
-
0036037635
-
From erythropoietin to oxygen: Hypoxia-inducible factor hydroxylases and the hypoxia signal pathway
-
Ratcliffe, PJ (2002) From erythropoietin to oxygen: Hypoxia-inducible factor hydroxylases and the hypoxia signal pathway. Blood Purif, 20, pp. 445-450.
-
(2002)
Blood Purif
, vol.20
, pp. 445-450
-
-
Ratcliffe, P.J.1
-
7
-
-
26244466162
-
Structural basis of ARNT PAS-B dimerization: Use of a common beta sheet interface for hetero-homodimerization
-
Card, PB, Erbel, PJ and Gardner, KH (2005) Structural basis of ARNT PAS-B dimerization: Use of a common beta sheet interface for hetero-homodimerization. J Mol Biol, 353, pp. 664-677.
-
(2005)
J Mol Biol
, vol.353
, pp. 664-677
-
-
Card, P.B.1
Erbel, P.J.2
Gardner, K.H.3
-
8
-
-
17944375360
-
Elegans EGL-9 and mammalian homologs define a family of dioxygenases that regulate HIF by prolyl hydroxylation
-
Epstein, AC, Gleadle, JM, McNeill, LA, Hewitson, KS, O'Rourke, J., Mole, DR, Mukherji, M., Metzen, E., Wilson, MI, Dhanda, A., Tian, YM, Masson, N., Hamilton, DL, Jaakkola, P., Barstead, R., Hodgkin, J., Maxwell, PH, Pugh, CW, Schofield, CJ and Ratcliffe, PJC (2001) Elegans EGL-9 and mammalian homologs define a family of dioxygenases that regulate HIF by prolyl hydroxylation. Cell, 107, pp. 43-54.
-
(2001)
Cell
, vol.107
, pp. 43-54
-
-
Epstein, A.C.1
Gleadle, J.M.2
McNeill, L.A.3
Hewitson, K.S.4
O'Rourke, J.5
Mole, D.R.6
Mukherji, M.7
Metzen, E.8
Wilson, M.I.9
Dhanda, A.10
Tian, Y.M.11
Masson, N.12
Hamilton, D.L.13
Jaakkola, P.14
Barstead, R.15
Hodgkin, J.16
Maxwell, P.H.17
Pugh, C.W.18
Schofield, C.J.19
Ratcliffe, P.J.C.20
more..
-
9
-
-
0035834409
-
A conserved family of prolyl-4-hydroxylases that modify HIF
-
Bruick, RK and McKnight, SL (2001) A conserved family of prolyl-4-hydroxylases that modify HIF. Science, 294, pp. 1337-1340.
-
(2001)
Science
, vol.294
, pp. 1337-1340
-
-
Bruick, R.K.1
McKnight, S.L.2
-
10
-
-
0037108807
-
Biochemical purification and pharmacological inhibition of a mammalian prolyl hydroxylase acting on hypoxia-inducible factor
-
Ivan, M., Haberberger, T., Gervasi, DC, Michelson, KS, Gunzler, V., Kondo, K., Yang, H., Sorokina, I., Conaway, RC, Conaway, JW and Kaelin Jr, WG (2002) Biochemical purification and pharmacological inhibition of a mammalian prolyl hydroxylase acting on hypoxia-inducible factor. Proc Natl Acad Sci U S A, 99, pp. 13459-13464.
-
(2002)
Proc Natl Acad Sci U S A
, vol.99
, pp. 13459-13464
-
-
Ivan, M.1
Haberberger, T.2
Gervasi, D.C.3
Michelson, K.S.4
Gunzler, V.5
Kondo, K.6
Yang, H.7
Sorokina, I.8
Conaway, R.C.9
Conaway, J.W.10
Kaelin Jr., W.G.11
-
11
-
-
0035917313
-
2 sensing
-
2 sensing. Science, 292, pp. 464-468.
-
(2001)
Science
, vol.292
, pp. 464-468
-
-
Ivan, M.1
Kondo, K.2
Yang, H.3
Kim, W.4
Valiando, J.5
Ohh, M.6
Salic, A.7
Asara, J.M.8
Lane, W.S.9
Kaelin Jr., W.G.10
-
12
-
-
0035917808
-
2-regulated prolyl hydroxylation
-
2-regulated prolyl hydroxylation. Science, 292, pp. 468-472.
-
(2001)
Science
, vol.292
, pp. 468-472
-
-
Jaakkola, P.1
Mole, D.R.2
Tian, Y.M.3
Wilson, M.I.4
Gielbert, J.5
Gaskell, S.J.6
Kriegsheim, A.A.7
Hebestreit, H.F.8
Mukherji, M.9
Schofield, C.J.10
Maxwell, P.H.11
Pugh, C.W.12
Ratcliffe, P.J.13
-
13
-
-
0035903468
-
Independent function of two destruction domains in hypoxia-inducible factor-alpha chains activated by prolyl hydroxylation
-
Masson, N., Willam, C., Maxwell, PH, Pugh, CW and Ratcliffe, PJ (2001) Independent function of two destruction domains in hypoxia-inducible factor-alpha chains activated by prolyl hydroxylation. EMBO J, 20, pp. 5197-5206.
-
(2001)
EMBO J
, vol.20
, pp. 5197-5206
-
-
Masson, N.1
Willam, C.2
Maxwell, P.H.3
Pugh, C.W.4
Ratcliffe, P.J.5
-
14
-
-
0035859692
-
HIF-1alpha binding to VHL is regulated by stimulus-sensitive proline hydroxylation
-
White, SB, Zhao, Q. and Lee, FS (2001) HIF-1alpha binding to VHL is regulated by stimulus-sensitive proline hydroxylation. Proc Natl Acad Sci U S A, 98, pp. 9630-9635.
-
(2001)
Proc Natl Acad Sci U S A
, vol.98
, pp. 9630-9635
-
-
White, S.B.1
Zhao, Q.2
Lee, F.S.3
-
15
-
-
10644276385
-
VHL-box and SOCS-box domains determine binding specificity for Cul2-Rbx1 and Cul5-Rbx2 modules of ubiqitin ligases
-
Kamura, T., Maenaka, K., Kotoshiba, S., Matsumoto, M., Kohda, D., Conaway, RC, Conaway, JW and Nakayama, KI (2004) VHL-box and SOCS-box domains determine binding specificity for Cul2-Rbx1 and Cul5-Rbx2 modules of ubiqitin ligases. Genes Dev, 18, pp. 3055-3065.
-
(2004)
Genes Dev
, vol.18
, pp. 3055-3065
-
-
Kamura, T.1
Maenaka, K.2
Kotoshiba, S.3
Matsumoto, M.4
Kohda, D.5
Conaway, R.C.6
Conaway, J.W.7
Nakayama, K.I.8
-
16
-
-
27544477748
-
The von Hippel-Lindau protein, HIF hydroxylation, and oxygen sensing
-
Kaelin Jr, WG (2005) The von Hippel-Lindau protein, HIF hydroxylation, and oxygen sensing. Biochem Biophys Res Commun, 338, pp. 627-638.
-
(2005)
Biochem Biophys Res Commun
, vol.338
, pp. 627-638
-
-
Kaelin Jr., W.G.1
-
17
-
-
0033000191
-
The erythropoietin receptor: Structure, activation and intracellular signal transduction
-
Constantinescu, SN, Ghaffari, S. and Lodish, HF (1999) The erythropoietin receptor: Structure, activation and intracellular signal transduction. TEM, 10, pp. 18-23.
-
(1999)
TEM
, vol.10
, pp. 18-23
-
-
Constantinescu, S.N.1
Ghaffari, S.2
Lodish, H.F.3
-
18
-
-
0347093460
-
Inhibitors of cytokine signal transduction
-
Wormald, S. and Hilton, DJ (2004) Inhibitors of cytokine signal transduction. J Biol Chem, 279, pp. 821-824.
-
(2004)
J Biol Chem
, vol.279
, pp. 821-824
-
-
Wormald, S.1
Hilton, D.J.2
-
19
-
-
0035367819
-
Signaling by type I and II cytokines receptors: Ten years after
-
Gadina, M., Hilton, D., Johnston, JA, Morinobu, A., Lighvani, A., Zhou, Y-J, Visconti, R. and O'Shea, JJ (2001) Signaling by type I and II cytokines receptors: Ten years after. Curr Opin Immunol, 13, pp. 363-373.
-
(2001)
Curr Opin Immunol
, vol.13
, pp. 363-373
-
-
Gadina, M.1
Hilton, D.2
Johnston, J.A.3
Morinobu, A.4
Lighvani, A.5
Zhou, Y.-J.6
Visconti, R.7
O'Shea, J.J.8
-
20
-
-
11244273938
-
Both proteasomes and lysosomes degrade the activated erythropoietin receptor
-
Walrafen, P., Verdier, F., Kadri, Z., Chretien, S., Lacombe, C. and Mayeux, P. (2005) Both proteasomes and lysosomes degrade the activated erythropoietin receptor. Blood, 105, pp. 600-608.
-
(2005)
Blood
, vol.105
, pp. 600-608
-
-
Walrafen, P.1
Verdier, F.2
Kadri, Z.3
Chretien, S.4
Lacombe, C.5
Mayeux, P.6
-
21
-
-
0034703097
-
CIS/SOCS-3 suppresses erythropoietin (Epo) signaling by binding the EPO receptor and JAK2
-
Sasaki, A., Yasukawa, H., Shouda, T., Kitamura, T., Dikic, I. and Yoshimura, A. (2000) CIS/SOCS-3 suppresses erythropoietin (Epo) signaling by binding the EPO receptor and JAK2. J Biol Chem, 275, pp. 29338-29347.
-
(2000)
J Biol Chem
, vol.275
, pp. 29338-29347
-
-
Sasaki, A.1
Yasukawa, H.2
Shouda, T.3
Kitamura, T.4
Dikic, I.5
Yoshimura, A.6
-
22
-
-
0034658354
-
Cloning and characterization of human Lnk, an adaptor protein with pleckstrin homology and Src homology 2 domains that can inhibit T cell activation
-
Schembri-King, J., Jakes, S. and Hayashi, J. (2000) Cloning and characterization of human Lnk, an adaptor protein with pleckstrin homology and Src homology 2 domains that can inhibit T cell activation. J Immunol, 164, pp. 5199-5206.
-
(2000)
J Immunol
, vol.164
, pp. 5199-5206
-
-
Schembri-King, J.1
Jakes, S.2
Hayashi, J.3
-
23
-
-
20444426803
-
Lnk inhibits erythropoiesis and Epo-dependent JAK2 activation and downstream signaling pathways
-
Tong, W., Zhang, J. and Lodish, HF (2005) Lnk inhibits erythropoiesis and Epo-dependent JAK2 activation and downstream signaling pathways. Blood, 105, pp. 4604-4612.
-
(2005)
Blood
, vol.105
, pp. 4604-4612
-
-
Tong, W.1
Zhang, J.2
Lodish, H.F.3
-
24
-
-
0025885417
-
Autosomal dominant erythrocytosis caused by increased sensitivity to erythropoietin
-
Juvonen, E., Ikkala, E., Fyhrquist, F. and Ruutu, T. (1991) Autosomal dominant erythrocytosis caused by increased sensitivity to erythropoietin. Blood, 78, pp. 3066-3089.
-
(1991)
Blood
, vol.78
, pp. 3066-3089
-
-
Juvonen, E.1
Ikkala, E.2
Fyhrquist, F.3
Ruutu, T.4
-
25
-
-
0027524031
-
Familial erythrocytosis genetically linked to erythropoietin receptor gene
-
de la Chapelle, A., Sistonen, P., Lehvaslaiho, H., Ikkala, E. and Juvonen, E. (1993) Familial erythrocytosis genetically linked to erythropoietin receptor gene. Lancet, 341, pp. 82-84.
-
(1993)
Lancet
, vol.341
, pp. 82-84
-
-
de la Chapelle, A.1
Sistonen, P.2
Lehvaslaiho, H.3
Ikkala, E.4
Juvonen, E.5
-
26
-
-
0027215519
-
Truncated erythropoietin receptor causes dominantly inherited human erythrocytosis
-
de la Chapelle, A., Träskelin, A-L and Juvonen, E. (1993) Truncated erythropoietin receptor causes dominantly inherited human erythrocytosis. Proc Natl Acad Sci, 90, pp. 4495-4499.
-
(1993)
Proc Natl Acad Sci
, vol.90
, pp. 4495-4499
-
-
de la Chapelle, A.1
Träskelin, A.-L.2
Juvonen, E.3
-
27
-
-
0037089336
-
A novel mutation in the erythropoietin receptor gene is associated with familial erythrocytosis
-
Arcasoy, MO, Karayal, AF, Segal, HM, Sinning, JG and Forget, BG (2002) A novel mutation in the erythropoietin receptor gene is associated with familial erythrocytosis. Blood, 99, pp. 3066-3069.
-
(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
-
28
-
-
3142777320
-
Erythropoietin receptor defect: A cause of primary polycythaemia
-
Petersen, BK, Hokland, P., Petersen, GB and Nyvold, CG (2004) Erythropoietin receptor defect: A cause of primary polycythaemia. Br J Haematol, 125, pp. 537-539.
-
(2004)
Br J Haematol
, vol.125
, pp. 537-539
-
-
Petersen, B.K.1
Hokland, P.2
Petersen, G.B.3
Nyvold, C.G.4
-
29
-
-
0001305156
-
Low frequency of erythropoietin receptor gene mutations in subjects with primary familial and congenital polycythemia
-
Kralovics, R., Divoka, M., Stopka, T. and Prchal, JT (1997) Low frequency of erythropoietin receptor gene mutations in subjects with primary familial and congenital polycythemia. Blood, 90, p. 12a.
-
(1997)
Blood
, vol.90
-
-
Kralovics, R.1
Divoka, M.2
Stopka, T.3
Prchal, J.T.4
-
30
-
-
0032128336
-
Absence of polycythemia phenotype in a child with a unique erythropoietin receptor mutation in a family with autosomal dominant primary polycythemia
-
Kralovics, R., Sokol, L. and Prchal, JT (1998) Absence of polycythemia phenotype in a child with a unique erythropoietin receptor mutation in a family with autosomal dominant primary polycythemia. J Clin Path, 102, pp. 124-129.
-
(1998)
J Clin Path
, vol.102
, pp. 124-129
-
-
Kralovics, R.1
Sokol, L.2
Prchal, J.T.3
-
31
-
-
34247235429
-
Molecular analyses in familial and sporadic congenital primary erythrocytosis
-
Cario, H., Sola, S Rives, Neusuess, A., Kohne, E. and Schwarz, K. (2006) Molecular analyses in familial and sporadic congenital primary erythrocytosis. Haematologica, 91, pp. 352-353.
-
(2006)
Haematologica
, vol.91
, pp. 352-353
-
-
Cario, H.1
Sola, S.2
Rives Neusuess, A.3
Kohne, E.4
Schwarz, K.5
-
32
-
-
0030954685
-
Two new EPO receptor mutations: Truncated Epo receptors are most frequently associated with primary familial and congenital polycythemias
-
Kralovics, R., Indrak, K., Stopka, T., Berman, B., Prchal, JF and Prchal, JT (1997) Two new EPO receptor mutations: Truncated Epo receptors are most frequently associated with primary familial and congenital polycythemias. Blood, 90, pp. 2057-2061.
-
(1997)
Blood
, vol.90
, pp. 2057-2061
-
-
Kralovics, R.1
Indrak, K.2
Stopka, T.3
Berman, B.4
Prchal, J.F.5
Prchal, J.T.6
-
33
-
-
0033215521
-
Erythropoietin receptor mutations associated with familial erythrocytosis cause hypersensitivity to erythropoietin in the heterozygous state
-
Watowich, SS, Xie, X., Klingmuller, U., Kere, J., Lindlof, M., Berglund, S. and de la Chapelle, A. (1999) Erythropoietin receptor mutations associated with familial erythrocytosis cause hypersensitivity to erythropoietin in the heterozygous state. Blood, 94, pp. 2530-2532.
-
(1999)
Blood
, vol.94
, pp. 2530-2532
-
-
Watowich, S.S.1
Xie, X.2
Klingmuller, U.3
Kere, J.4
Lindlof, M.5
Berglund, S.6
de la Chapelle, A.7
-
34
-
-
0029050709
-
Primary familial polycythemia: 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 and Prchal, JT (1995) Primary familial polycythemia: Frameshift mutation in the erythropoietin receptor gene and increased sensitivity of erythroid progenitors to erythropoietin. Blood, 86, pp. 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
-
35
-
-
0030986297
-
Familial erythrocytosis associated with a short deletion in the erythropoietin receptor gene
-
Arcasoy, MO, Degar, BA, Harris, KW and Forget, BG (1997) Familial erythrocytosis associated with a short deletion in the erythropoietin receptor gene. Blood, 89, pp. 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
-
36
-
-
9844244548
-
Primary familial polycythaemia associated with a novel point mutation in the erythropoietin receptor
-
Furukawa, T., Narita, M., Sakaue, M., Otsuka, T., Kuroha, T., Masuko, M., Azegami, T., Kishi, K., Takahashi, M., Utsumi, J., Koike, T. and Aizawa, Y. (1997) Primary familial polycythaemia associated with a novel point mutation in the erythropoietin receptor. Br J Haematol, 99, pp. 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
Azegami, T.7
Kishi, K.8
Takahashi, M.9
Utsumi, J.10
Koike, T.11
Aizawa, Y.12
-
37
-
-
0031935867
-
Erythrocytosis due to a mutation in the erythropoietin receptor gene
-
Percy, MJ, McMullin, MF, Roques, AWW, Westwood, NB, Acharya, J., Hughes, AE, Lappin, TRJ and Pearson, TC (1998) Erythrocytosis due to a mutation in the erythropoietin receptor gene. Br J Haematol, 100, pp. 407-410.
-
(1998)
Br J Haematol
, vol.100
, pp. 407-410
-
-
Percy, M.J.1
McMullin, M.F.2
Roques, A.W.W.3
Westwood, N.B.4
Acharya, J.5
Hughes, A.E.6
Lappin, T.R.J.7
Pearson, T.C.8
-
38
-
-
0030021792
-
Missense mutation of the erythropoietin receptor is a rare event in human erythroid malignancies
-
Couedic, J-P Le, Mitjavila, M-T, Villeval, J-L, Feger, F., Gobert, S., Mayeux, P., Casadevall, N. and Vainchenker, W. (1996) Missense mutation of the erythropoietin receptor is a rare event in human erythroid malignancies. Blood, 87, pp. 1502-1511.
-
(1996)
Blood
, vol.87
, pp. 1502-1511
-
-
Couedic, J.-P.1
Le Mitjavila, M.-T.2
Villeval, J.-L.3
Feger, F.4
Gobert, S.5
Mayeux, P.6
Casadevall, N.7
Vainchenker, W.8
-
39
-
-
0028300494
-
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 and Prchal, JT (1994) Mutation in the negative regulatory element of the erythropoietin receptor gene in a case of sporadic primary polycythemia. Exp Hematol, 22, pp. 447-453.
-
(1994)
Exp Hematol
, vol.22
, pp. 447-453
-
-
Sokol, L.1
Prchal, J.F.2
D'Andrea, A.3
Rado, T.A.4
Prchal, J.T.5
-
40
-
-
0030723152
-
The erythropoietin receptor gene is not linked with the polycythemia phenotype in a family with autosomal dominant primary polycythemia
-
Kralovics, R., Sokol, L., Broxson Jr, EH and Prchal, JT (1997) The erythropoietin receptor gene is not linked with the polycythemia phenotype in a family with autosomal dominant primary polycythemia. Proc Assoc Am Physicians, 109, pp. 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
-
41
-
-
0033050680
-
A human erythropoietin receptor gene mutant causing familial erythrocytosis is associated with deregulation of the rates of JAK2 and Stat5 inactivation
-
Arcasoy, MO, Harris, KW and Forget, BG (1999) A human erythropoietin receptor gene mutant causing familial erythrocytosis is associated with deregulation of the rates of JAK2 and Stat5 inactivation. Exp Hematol, 27, pp. 63-74.
-
(1999)
Exp Hematol
, vol.27
, pp. 63-74
-
-
Arcasoy, M.O.1
Harris, K.W.2
Forget, B.G.3
-
42
-
-
33646501688
-
Absence of mutations of the EPO-receptor gene in Greek patients with familiar polycythemia
-
Bourantas, LK, Chatzikyriakidou, A., Dasoula, A., Syrrou, M., Bourantas, KL and Georgiou, I. (2006) Absence of mutations of the EPO-receptor gene in Greek patients with familiar polycythemia. Eur J Haematol, 76, pp. 537-538.
-
(2006)
Eur J Haematol
, vol.76
, pp. 537-538
-
-
Bourantas, L.K.1
Chatzikyriakidou, A.2
Dasoula, A.3
Syrrou, M.4
Bourantas, K.L.5
Georgiou, I.6
-
43
-
-
0034839931
-
Genetic heterogeneity of primary familial and congenital polycythemia
-
Kralovics, R. and Prchal, JT (2001) Genetic heterogeneity of primary familial and congenital polycythemia. Am J Hematol, 68, pp. 115-121.
-
(2001)
Am J Hematol
, vol.68
, pp. 115-121
-
-
Kralovics, R.1
Prchal, J.T.2
-
44
-
-
0242468094
-
Possible primary familial and congenital polycythemia locus at 7q22.1-7q22.2
-
Jedlickova, K., Stockton, DW and Prchal, JT (2003) Possible primary familial and congenital polycythemia locus at 7q22.1-7q22.2. Blood Cells Mol Dis, 31, pp. 327-331.
-
(2003)
Blood Cells Mol Dis
, vol.31
, pp. 327-331
-
-
Jedlickova, K.1
Stockton, D.W.2
Prchal, J.T.3
-
45
-
-
20144363192
-
Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders
-
Baxter, JE, Scott, LM, Campbell, PJ, East, C., Fourouclas, N., Swanton, S., Vassiliou, GS, Bench, AJ, Boyd, EM, Curtin, N., Scott, MA, Erber, WN and Green, AR (2005) Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet, 365, pp. 1054-1061.
-
(2005)
Lancet
, vol.365
, pp. 1054-1061
-
-
Baxter, J.E.1
Scott, L.M.2
Campbell, P.J.3
East, C.4
Fourouclas, N.5
Swanton, S.6
Vassiliou, G.S.7
Bench, A.J.8
Boyd, E.M.9
Curtin, N.10
Scott, M.A.11
Erber, W.N.12
Green, A.R.13
-
46
-
-
17844383458
-
A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera
-
James, C., Ugo, V., Couedic, J-P Le, Staerk, J., Delhommeau, F., Lacout, C., Garcon, L., Raslova, H., Berger, R., Bennaceur-Griscelli, A., Villeval, JL, Constantinescu, SN, Casadevall, N. and Vainchenker, W. (2005) A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature, 434, pp. 1144-1148.
-
(2005)
Nature
, vol.434
, pp. 1144-1148
-
-
James, C.1
Ugo, V.2
Couedic, J.-P.3
Le Staerk, J.4
Delhommeau, F.5
Lacout, C.6
Garcon, L.7
Raslova, H.8
Berger, R.9
Bennaceur-Griscelli, A.10
Villeval, J.L.11
Constantinescu, S.N.12
Casadevall, N.13
Vainchenker, W.14
-
47
-
-
21344467318
-
Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders
-
Jones, AV, Kreil, S., Zoi, K., Waghorn, K., Curtis, C., Zhang, L., Score, J., Seear, R., Chase, AJ, Grand, FH, White, H., Zoi, C., Loukopoulos, D., Terpos, E., Vervessou, EC, Schultheis, B., Emig, M., Ernst, T., Lengfelder, E., Hehlmann, R., Hochhaus, A., Oscier, D., Silver, RT, Reiter, A. and Cross, NC (2005) Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. Blood, 106, pp. 2158-2162.
-
(2005)
Blood
, vol.106
, pp. 2158-2162
-
-
Jones, A.V.1
Kreil, S.2
Zoi, K.3
Waghorn, K.4
Curtis, C.5
Zhang, L.6
Score, J.7
Seear, R.8
Chase, A.J.9
Grand, F.H.10
White, H.11
Zoi, C.12
Loukopoulos, D.13
Terpos, E.14
Vervessou, E.C.15
Schultheis, B.16
Emig, M.17
Ernst, T.18
Lengfelder, E.19
Hehlmann, R.20
Hochhaus, A.21
Oscier, D.22
Silver, R.T.23
Reiter, A.24
Cross, N.C.25
more..
-
48
-
-
17644424955
-
A gain-of-function mutation of JAK2 in myeloproliferative disorders
-
Kralovics, R., Passamonti, F., Buser, AS, Teo, SS, Tiedt, R., Passweg, JR, Tichelli, A., Cazzola, M. and Skoda, RC (2005) A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Eng J Med, 352, pp. 1779-1790.
-
(2005)
N Eng J Med
, vol.352
, pp. 1779-1790
-
-
Kralovics, R.1
Passamonti, F.2
Buser, A.S.3
Teo, S.S.4
Tiedt, R.5
Passweg, J.R.6
Tichelli, A.7
Cazzola, M.8
Skoda, R.C.9
-
49
-
-
33748684367
-
The JAK2-V617F mutation is frequently present at diagnosis in patients with essential thromobcythemia and polycythemia vera
-
Lippert, E., Boissinot, M., Kralovics, R., Girodon, F., Dobo, I., Praloran, V., Boiret-Dupré, N., Skoda, RC and Hermouet, S. (2006) The JAK2-V617F mutation is frequently present at diagnosis in patients with essential thromobcythemia and polycythemia vera. Blood, 108, pp. 1865-1867.
-
(2006)
Blood
, vol.108
, pp. 1865-1867
-
-
Lippert, E.1
Boissinot, M.2
Kralovics, R.3
Girodon, F.4
Dobo, I.5
Praloran, V.6
Boiret-Dupré, N.7
Skoda, R.C.8
Hermouet, S.9
-
50
-
-
33750743094
-
Usefulness of JAK2V617F mutation in distinguishing idiopathic erythrocytosis from polycythemia vera
-
Rossi, D., Cortini, F., Deambrogi, C., Barbieri, C., Cerri, M., Franceschetti, S., Conconi, A., Capello, D. and Gaidano, G. (2007) Usefulness of JAK2V617F mutation in distinguishing idiopathic erythrocytosis from polycythemia vera. Leuk Res, 31, pp. 97-101.
-
(2007)
Leuk Res
, vol.31
, pp. 97-101
-
-
Rossi, D.1
Cortini, F.2
Deambrogi, C.3
Barbieri, C.4
Cerri, M.5
Franceschetti, S.6
Conconi, A.7
Capello, D.8
Gaidano, G.9
-
51
-
-
33645461067
-
The incidence of the JAK2 V617F mutation in patients with idiopathic erythrocytosis
-
Percy, MJ, Jones, FGC, Green, AR, Reilly, JT and McMullin, MF (2006) The incidence of the JAK2 V617F mutation in patients with idiopathic erythrocytosis. Haematologica, 91, pp. 413-414.
-
(2006)
Haematologica
, vol.91
, pp. 413-414
-
-
Percy, M.J.1
Jones, F.G.C.2
Green, A.R.3
Reilly, J.T.4
McMullin, M.F.5
-
52
-
-
34247246997
-
Low prevalence of JAK2 Val617Phe mutation in patients with idiopathic erythrocytosis
-
Finazzi, G., Guerini, V., Ruggeri, M., Bernardi, M., Rambaldi, A., Rodeghiero, F. and Barbui, T. (2005) Low prevalence of JAK2 Val617Phe mutation in patients with idiopathic erythrocytosis. Blood, 106, p. 726a.
-
(2005)
Blood
, vol.106
-
-
Finazzi, G.1
Guerini, V.2
Ruggeri, M.3
Bernardi, M.4
Rambaldi, A.5
Rodeghiero, F.6
Barbui, T.7
-
53
-
-
85044548244
-
JAK2V617F mutational frequency in polycythemia vera: 100%, 90%, or less?
-
Verstovsek, S., Silver, RT, Cross, NCP and Tefferi, A. (2006) JAK2V617F mutational frequency in polycythemia vera: 100%, 90%, or less?. Leukemia, 211, p. 2067.
-
(2006)
Leukemia
, vol.211
, pp. 2067
-
-
Verstovsek, S.1
Silver, R.T.2
Cross, N.C.P.3
Tefferi, A.4
-
54
-
-
0030985635
-
Congenital polycythemia in Chuvashia
-
Sergeyeva, A., Gordeuk, VR, Tokarev, YN, Sokol, L., Prchal, JF and Prchal, JT (1997) Congenital polycythemia in Chuvashia. Blood, 89, pp. 2148-2154.
-
(1997)
Blood
, vol.89
, pp. 2148-2154
-
-
Sergeyeva, A.1
Gordeuk, V.R.2
Tokarev, Y.N.3
Sokol, L.4
Prchal, J.F.5
Prchal, J.T.6
-
55
-
-
0036111623
-
Endemic polycythemia in Russia: Mutation in the VHL gene
-
Ang, SO, Chen, H., Gordeuk, VR, Sergueeva, AI, Polyakova, LA, Miasnikova, GY, Kralovics, R., Stockton, DW and Prchal, JF (2002) Endemic polycythemia in Russia: Mutation in the VHL gene. Blood Cells Mol Dis, 28, pp. 57-62.
-
(2002)
Blood Cells Mol Dis
, vol.28
, pp. 57-62
-
-
Ang, S.O.1
Chen, H.2
Gordeuk, V.R.3
Sergueeva, A.I.4
Polyakova, L.A.5
Miasnikova, G.Y.6
Kralovics, R.7
Stockton, D.W.8
Prchal, J.F.9
-
56
-
-
18744373593
-
Disruption of oxygen homeostatis underlies congenital Chuvash polycythemia
-
Ang, SO, Chen, H., Hirota, K., Gordeuk, VR, Jelinek, J., Guan, Y., Liu, E., Sergueeva, AI, Miasnikova, GY, Mole, D., Maxwell, PH, Stockton, DW, Semenza, GL and Prchal, JT (2002) Disruption of oxygen homeostatis underlies congenital Chuvash polycythemia. Nat Genet, 32, pp. 614-621.
-
(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
Liu, E.7
Sergueeva, A.I.8
Miasnikova, G.Y.9
Mole, D.10
Maxwell, P.H.11
Stockton, D.W.12
Semenza, G.L.13
Prchal, J.T.14
-
57
-
-
0037441601
-
Mutations in the VHL gene in sporadic apparently congenital polycythemia
-
Pastore, YD, Jelinek, J., Ang, S., Guan, Y., Lui, E., Jedlickova, K., Krishnamurti, L. and Prchal, JT (2003) Mutations in the VHL gene in sporadic apparently congenital polycythemia. Blood, 101, pp. 1591-1595.
-
(2003)
Blood
, vol.101
, pp. 1591-1595
-
-
Pastore, Y.D.1
Jelinek, J.2
Ang, S.3
Guan, Y.4
Lui, E.5
Jedlickova, K.6
Krishnamurti, L.7
Prchal, J.T.8
-
58
-
-
0042744741
-
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 and Lappin, TRJ (2003) Chuvash-type congenital polycythemia in 4 families of Asian and Western European ancestry. Blood, 102, pp. 1097-1099.
-
(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
Lappin, T.R.J.7
-
59
-
-
0042665948
-
Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia
-
Pastore, YD, Jedlickova, K., Guan, Y., Lui, E., Fahner, J., Hasle, H., Prchal, JF and Prchal, JT (2003) Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia. Am J Hum Genet, 73, pp. 412-419.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 412-419
-
-
Pastore, Y.D.1
Jedlickova, K.2
Guan, Y.3
Lui, E.4
Fahner, J.5
Hasle, H.6
Prchal, J.F.7
Prchal, J.T.8
-
60
-
-
13244281831
-
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, Uhle, R., Debatin, K-M and Kohne, E. (2005) Mutations in the von Hippel-Lindau (VHL) tumor suppressor gene and VHL-haplotype analysis in patients with presumable congenital erythrocytosis. Haematologica, 90, pp. 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
Uhle, R.7
Debatin, K.-M.8
Kohne, E.9
-
61
-
-
13244272302
-
Congenital polycythemia with homozygous and heterozygous mutations of von Hippel-Landau gene: Five new Caucasian patients
-
Bento, MC, Chang, K-T, Guan, Y., Liu, E., Caldas, G., Gatti, RA and Prchal, JF (2005) Congenital polycythemia with homozygous and heterozygous mutations of von Hippel-Landau gene: Five new Caucasian patients. Haematologica, 90, pp. 128-129.
-
(2005)
Haematologica
, vol.90
, pp. 128-129
-
-
Bento, M.C.1
Chang, K.-T.2
Guan, Y.3
Liu, E.4
Caldas, G.5
Gatti, R.A.6
Prchal, J.F.7
-
62
-
-
30444459356
-
Von Hippel Lindau-dependent polycythemia is endemic on the island of Ischia: Identification of a novel cluster
-
Perrotta, S., Nobili, B., Ferraro, M., Migliaccio, C., Borriello, A., Cucciolla, V., Martinelli, V., Rossi, F., Punzo, F., Cirillo, P., Parisi, G., Zappia, V., Rotoli, B. and Della Ragiona, F. (2006) Von Hippel Lindau-dependent polycythemia is endemic on the island of Ischia: Identification of a novel cluster. Blood, 107, pp. 514-519.
-
(2006)
Blood
, vol.107
, pp. 514-519
-
-
Perrotta, S.1
Nobili, B.2
Ferraro, M.3
Migliaccio, C.4
Borriello, A.5
Cucciolla, V.6
Martinelli, V.7
Rossi, F.8
Punzo, F.9
Cirillo, P.10
Parisi, G.11
Zappia, V.12
Rotoli, B.13
Della Ragiona, F.14
-
63
-
-
10744232594
-
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, McMullin, MF, Polyakova, LA, Ang, SO, Pastore, YD, Jedlickova, K., Lappin, TRJ, Gordeuk, V. and Prchal, JF (2004) The worldwide distribution of the VHL 598C>T mutation indicates a single founding event. Blood, 103, pp. 1937-1940.
-
(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
McMullin, M.F.7
Polyakova, L.A.8
Ang, S.O.9
Pastore, Y.D.10
Jedlickova, K.11
Lappin, T.R.J.12
Gordeuk, V.13
Prchal, J.F.14
-
64
-
-
13244275298
-
Congenital polycythemias/erythrocytoses
-
Gordeuk, VR, Stockon, DW and Prchal, JT (2005) Congenital polycythemias/ erythrocytoses. Haematologica, 90, pp. 109-116.
-
(2005)
Haematologica
, vol.90
, pp. 109-116
-
-
Gordeuk, V.R.1
Stockon, D.W.2
Prchal, J.T.3
-
65
-
-
0031762403
-
Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma
-
Olschwang, S., Richard, S., Boisson, C., Giraud, S., Laurent-Puig, P., Resche, F. and Thomas, G. (1998) Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma. Human Mutation, 12, pp. 424-430.
-
(1998)
Human Mutation
, vol.12
, pp. 424-430
-
-
Olschwang, S.1
Richard, S.2
Boisson, C.3
Giraud, S.4
Laurent-Puig, P.5
Resche, F.6
Thomas, G.7
-
66
-
-
0036846195
-
VHL2C phenotype is a German von Hippel-Lindau family with concurrent VHL germline mutations P81S and L188V
-
Weirich, G., Klein, B., Wohl, T., Engelhardt, D. and Brauch, H. (2002) VHL2C phenotype is a German von Hippel-Lindau family with concurrent VHL germline mutations P81S and L188V. J Clin Endocrinol Metab, 87, pp. 5241-5246.
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 5241-5246
-
-
Weirich, G.1
Klein, B.2
Wohl, T.3
Engelhardt, D.4
Brauch, H.5
-
67
-
-
0035339044
-
Contrasting effects on HIF-1α regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease
-
Clifford, SC, Cockman, ME, Smallwood, AC, Mole, DR, Woodward, ER, Maxwell, PH, Ratcliffe, PJ and Maher, ER (2001) Contrasting effects on HIF-1α regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease. Hum Mol Genet, 10, pp. 1029-1038.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 1029-1038
-
-
Clifford, S.C.1
Cockman, M.E.2
Smallwood, A.C.3
Mole, D.R.4
Woodward, E.R.5
Maxwell, P.H.6
Ratcliffe, P.J.7
Maher, E.R.8
-
68
-
-
34247246048
-
Diverse molecular defects associated with idiopathic erythrocytosis reflect the heterogeneity of this disorder
-
Percy, MJ, Jones, FGC, Lappin, TRJ and McMullin, MF (2006) Diverse molecular defects associated with idiopathic erythrocytosis reflect the heterogeneity of this disorder. Haematologica, 91, pp. 209-210.
-
(2006)
Haematologica
, vol.91
, pp. 209-210
-
-
Percy, M.J.1
Jones, F.G.C.2
Lappin, T.R.J.3
McMullin, M.F.4
-
69
-
-
20344370255
-
Low frequency of VHL gene mutations in young individuals with polycythemia and high serum erythropoietin
-
Randi, ML, Murgia, A., Putti, MC, Martella, M., Casarin, A., Opocher, G. and Fabris, F. (2005) Low frequency of VHL gene mutations in young individuals with polycythemia and high serum erythropoietin. Haeamtologica, 90, pp. 689-691.
-
(2005)
Haeamtologica
, vol.90
, pp. 689-691
-
-
Randi, M.L.1
Murgia, A.2
Putti, M.C.3
Martella, M.4
Casarin, A.5
Opocher, G.6
Fabris, F.7
-
70
-
-
18444368709
-
Structural basis for the recognition of hydroxproline in HIF-1 by pVHL
-
Hon, W-C, Wilson, MI, Harlos, K., Claridge, TDW, Schofield, CJ, Pugh, CW, Maxwell, PH, Ratcliffe, PJ, Staurt, DI and Jones, EY (2002) Structural basis for the recognition of hydroxproline in HIF-1 by pVHL. Nature, 417, pp. 975-978.
-
(2002)
Nature
, vol.417
, pp. 975-978
-
-
Hon, W.-C.1
Wilson, M.I.2
Harlos, K.3
Claridge, T.D.W.4
Schofield, C.J.5
Pugh, C.W.6
Maxwell, P.H.7
Ratcliffe, P.J.8
Staurt, D.I.9
Jones, E.Y.10
-
71
-
-
0037035851
-
Structure of an HIF-1alpha-pVHL complex: Hydroxyproline recognition in signaling
-
Min, JH, Yang, H., Ivan, M., Gertler, F., Kaelin Jr, WG and Pavletich, NP (2002) Structure of an HIF-1alpha-pVHL complex: Hydroxyproline recognition in signaling. Science, 296, pp. 1886-1889.
-
(2002)
Science
, vol.296
, pp. 1886-1889
-
-
Min, J.H.1
Yang, H.2
Ivan, M.3
Gertler, F.4
Kaelin Jr., W.G.5
Pavletich, N.P.6
-
72
-
-
2942624259
-
A common polymorphism in the oxygen-dependent degradation (ODD) domain of hypoxia inducible factor-1α (HIF-1α) does not impair Pro-564 hydroxylation
-
Percy, MJ, Mooney, SM, McMullin, MF, Flores, A., Lappin, TRJ and Lee, FS (2003) A common polymorphism in the oxygen-dependent degradation (ODD) domain of hypoxia inducible factor-1α (HIF-1α) does not impair Pro-564 hydroxylation. Mol Cancer, 2, pp. 31-37.
-
(2003)
Mol Cancer
, vol.2
, pp. 31-37
-
-
Percy, M.J.1
Mooney, S.M.2
McMullin, M.F.3
Flores, A.4
Lappin, T.R.J.5
Lee, F.S.6
-
73
-
-
17644397056
-
Identification of hypoxia-inducible factor-1alpha (HIF-1α) polymorphism as a mutation in prostate cancer that prevents normoxia-induced degradation
-
Fu, XS, Choi, E., Bubley, GJ and Balk, SP (2005) Identification of hypoxia-inducible factor-1alpha (HIF-1α) polymorphism as a mutation in prostate cancer that prevents normoxia-induced degradation. Prostate, 63, pp. 215-221.
-
(2005)
Prostate
, vol.63
, pp. 215-221
-
-
Fu, X.S.1
Choi, E.2
Bubley, G.J.3
Balk, S.P.4
-
74
-
-
0345871948
-
Sequence variation in hypoxia-inducible factor 1alpha (HIF-1α): Association with maximal oxygen consumption
-
Prior, SJ, Hagberg, JM, Phares, DA, Brown, MD, Fairfull, L., Ferrell, RE and Roth, SM (2003) Sequence variation in hypoxia-inducible factor 1alpha (HIF-1α): Association with maximal oxygen consumption. Physiol Genomics, 15, pp. 20-26.
-
(2003)
Physiol Genomics
, vol.15
, pp. 20-26
-
-
Prior, S.J.1
Hagberg, J.M.2
Phares, D.A.3
Brown, M.D.4
Fairfull, L.5
Ferrell, R.E.6
Roth, S.M.7
-
75
-
-
0242559086
-
Hypoxia-inducible factor-1alpha polymorphisms associated with enhanced transactivation capacity, implying clinical significance
-
Tanimoto, K., Yoshiga, K., Eguchi, H., Kaneyasu, M., Ukon, K., Kumazaki, T., Oue, N., Yasui, W., Imai, K., Nakachi, K., Poellinger, L. and Nishiyama, M. (2003) Hypoxia-inducible factor-1alpha polymorphisms associated with enhanced transactivation capacity, implying clinical significance. Carcinogenesis, 24, pp. 1779-1783.
-
(2003)
Carcinogenesis
, vol.24
, pp. 1779-1783
-
-
Tanimoto, K.1
Yoshiga, K.2
Eguchi, H.3
Kaneyasu, M.4
Ukon, K.5
Kumazaki, T.6
Oue, N.7
Yasui, W.8
Imai, K.9
Nakachi, K.10
Poellinger, L.11
Nishiyama, M.12
-
76
-
-
26244439272
-
Genetic variation in the hypoxia-inducible factor-1 alpha gene is associated with type 2 diabetes in Japanese
-
Yamada, N., Horikawa, Y., Oda, N., Iizuka, K., Shihara, N., Kishi, S. and Takeda, J. (2005) Genetic variation in the hypoxia-inducible factor-1 alpha gene is associated with type 2 diabetes in Japanese. J Clin Endocrinol Metab, 90, pp. 5841-5847.
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 5841-5847
-
-
Yamada, N.1
Horikawa, Y.2
Oda, N.3
Iizuka, K.4
Shihara, N.5
Kishi, S.6
Takeda, J.7
-
77
-
-
23744461969
-
Hypoxia-inducible factor 1alpha polymorphism and coronary collaterals in patients with ischemic heart disease
-
Resar, JR, Roguin, A., Voner, J., Nasir, K., Hennebry, TA, Miller, JM, Ingersoll, R., Kasch, LM and Semenza, GL (2005) Hypoxia-inducible factor 1alpha polymorphism and coronary collaterals in patients with ischemic heart disease. Chest, 128, pp. 787-791.
-
(2005)
Chest
, vol.128
, pp. 787-791
-
-
Resar, J.R.1
Roguin, A.2
Voner, J.3
Nasir, K.4
Hennebry, T.A.5
Miller, J.M.6
Ingersoll, R.7
Kasch, L.M.8
Semenza, G.L.9
-
78
-
-
0036323284
-
2-dependent degradation domain of hypoxia inducible factor-1alpha (HIF-1alpha)
-
2-dependent degradation domain of hypoxia inducible factor-1alpha (HIF-1alpha). J Cancer Res Clin Oncol, 128, pp. 358-362.
-
(2002)
J Cancer Res Clin Oncol
, vol.128
, pp. 358-362
-
-
Anastasiadis, A.G.1
Ghafar, M.A.2
Salomon, L.3
Vacherot, F.4
Benedit, P.5
Chen, M.W.6
Shabsigh, A.7
Burchardt, M.8
Chopin, D.K.9
Shabsigh, R.10
Buttyan, R.11
-
79
-
-
31444436640
-
A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis
-
Percy, MJ, Zhao, Q., Flores, A., Harrison, C., Lappin, TR, Maxwell, PH, McMullin, MF and Lee, FS (2006) A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis. Proc Natl Acad Sci U S A, 103, pp. 654-659.
-
(2006)
Proc Natl Acad Sci U S A
, vol.103
, pp. 654-659
-
-
Percy, M.J.1
Zhao, Q.2
Flores, A.3
Harrison, C.4
Lappin, T.R.5
Maxwell, P.H.6
McMullin, M.F.7
Lee, F.S.8
-
80
-
-
33745614894
-
Cellular oxygen sensing: Crystal structure of hypoxia-inducible factor prolyl hydroxylase (PHD2)
-
McDonough, MA, Flashman, E., Chowdhury, R., Mohr, C., Liénard, BMR, Zondlo, J., Oldham, NJ, Clifton, IJ, Lewis, J., McNeill, LA, Kurzeja, RJM, Hewitson, KS, Yang, E., Jordan, S., Syed, RS and Schofield, CJ (2006) Cellular oxygen sensing: Crystal structure of hypoxia-inducible factor prolyl hydroxylase (PHD2). Proc Natl Acad Sci U S A, 103, pp. 9814-9819.
-
(2006)
Proc Natl Acad Sci U S A
, vol.103
, pp. 9814-9819
-
-
McDonough, M.A.1
Flashman, E.2
Chowdhury, R.3
Mohr, C.4
Liénard, B.M.R.5
Zondlo, J.6
Oldham, N.J.7
Clifton, I.J.8
Lewis, J.9
McNeill, L.A.10
Kurzeja, R.J.M.11
Hewitson, K.S.12
Yang, E.13
Jordan, S.14
Syed, R.S.15
Schofield, C.J.16
-
81
-
-
0035812318
-
Characterization and comparative analysis of the ELGN gene family
-
Taylor, MS (2001) Characterization and comparative analysis of the ELGN gene family. Gene, 275, pp. 125-132.
-
(2001)
Gene
, vol.275
, pp. 125-132
-
-
Taylor, M.S.1
-
82
-
-
0027986502
-
Germ-line mutations in the von Hippel-Lindau tumor-suppressor gene are similar to somatic von Hippel-Lindau aberrations in sporadic renal cell carcinoma
-
Whaley, JM, Naglich, J., Gelbert, L., Hsia, YE, Lamiell, JM, Green, JS, Collins, D., Neumann, HP, Laidlaw, J. and Li, FP (1994) Germ-line mutations in the von Hippel-Lindau tumor-suppressor gene are similar to somatic von Hippel-Lindau aberrations in sporadic renal cell carcinoma. Am J Hum Genet, 55, pp. 1092-1102.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 1092-1102
-
-
Whaley, J.M.1
Naglich, J.2
Gelbert, L.3
Hsia, Y.E.4
Lamiell, J.M.5
Green, J.S.6
Collins, D.7
Neumann, H.P.8
Laidlaw, J.9
Li, F.P.10
-
83
-
-
2342631195
-
Congenital disorder of oxygen sensing: Association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors
-
Gordeuk, VR, Sergueeva, AI, Miasnikova, GY, Okhotin, D., Voloshin, Y., Choyke, PL, Butman, JA, Jedlickova, K., Prchal, JT and Polyakova, LA (2004) Congenital disorder of oxygen sensing: Association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors. Blood, 103, pp. 3924-3932.
-
(2004)
Blood
, vol.103
, pp. 3924-3932
-
-
Gordeuk, V.R.1
Sergueeva, A.I.2
Miasnikova, G.Y.3
Okhotin, D.4
Voloshin, Y.5
Choyke, P.L.6
Butman, J.A.7
Jedlickova, K.8
Prchal, J.T.9
Polyakova, L.A.10
-
84
-
-
33746398489
-
Mutation of von Hippel-Lindau tumor suppressor and human cardiopulmonary physiology
-
Smith, TG, Brooks, JT, Balanos, GM, Lappin, TR, Layton, DM, Leedham, DL, Liu, C., Maxwell, PH, McMullin, MF, McNamara, CJ, Percy, MJ, Pugh, CW, Ratcliffe, PJ, Talbot, NP, Treacy, M. and Robbins, PA (2006) Mutation of von Hippel-Lindau tumor suppressor and human cardiopulmonary physiology. PLoS Med, 3, pp. 1178-1186.
-
(2006)
PLoS Med
, vol.3
, pp. 1178-1186
-
-
Smith, T.G.1
Brooks, J.T.2
Balanos, G.M.3
Lappin, T.R.4
Layton, D.M.5
Leedham, D.L.6
Liu, C.7
Maxwell, P.H.8
McMullin, M.F.9
McNamara, C.J.10
Percy, M.J.11
Pugh, C.W.12
Ratcliffe, P.J.13
Talbot, N.P.14
Treacy, M.15
Robbins, P.A.16
-
85
-
-
9244228551
-
In vitro and in vivo models analyzing von Hippel-Lindau disease-specific mutations
-
Rathmell, WK, Hickey, MM, Bezman, NA, Chmielecki, CA, Carrawary, NC and Simon, MC (2004) In vitro and in vivo models analyzing von Hippel-Lindau disease-specific mutations. Cancer Res, 64, pp. 8595-8603.
-
(2004)
Cancer Res
, vol.64
, pp. 8595-8603
-
-
Rathmell, W.K.1
Hickey, M.M.2
Bezman, N.A.3
Chmielecki, C.A.4
Carrawary, N.C.5
Simon, M.C.6
-
86
-
-
31444442758
-
Induction of human endometrial cancer cell senescence through modulation of HIF-1α activity by EGLN1
-
Kato, H., Inoue, T., Asanoma, K., Nishimura, C., Matsuda, T. and Wake, N. (2006) Induction of human endometrial cancer cell senescence through modulation of HIF-1α activity by EGLN1. Int J Cancer, 118, pp. 1144-1153.
-
(2006)
Int J Cancer
, vol.118
, pp. 1144-1153
-
-
Kato, H.1
Inoue, T.2
Asanoma, K.3
Nishimura, C.4
Matsuda, T.5
Wake, N.6
-
87
-
-
33646398913
-
Oxygen sensing: Recent insights from idiopathic erythrocytosis
-
Lee, FS, Percy, MJ and McMullin, MF (2006) Oxygen sensing: Recent insights from idiopathic erythrocytosis. Cell Cycle, 5, pp. 941-945.
-
(2006)
Cell Cycle
, vol.5
, pp. 941-945
-
-
Lee, F.S.1
Percy, M.J.2
McMullin, M.F.3
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