Josef T Prchal

Author PubWeight™ 160.60‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Redefining endothelial progenitor cells via clonal analysis and hematopoietic stem/progenitor cell principals. Blood 2006 8.56
2 Essential role for Nix in autophagic maturation of erythroid cells. Nature 2008 6.49
3 Genetic evidence for high-altitude adaptation in Tibet. Science 2010 5.37
4 Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia. Nat Genet 2002 4.06
5 JAK2 mutation 1849G>T is rare in acute leukemias but can be found in CMML, Philadelphia chromosome-negative CML, and megakaryocytic leukemia. Blood 2005 3.24
6 Acquired uniparental disomy of chromosome 9p is a frequent stem cell defect in polycythemia vera. Exp Hematol 2002 2.77
7 Polycythemia vera is not initiated by JAK2V617F mutation. Exp Hematol 2007 2.75
8 Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia. N Engl J Med 2012 2.74
9 Hypoxia-inducible factor-1 deficiency results in dysregulated erythropoiesis signaling and iron homeostasis in mouse development. J Biol Chem 2006 2.39
10 Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors. Blood 2004 2.27
11 Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload. Blood 2004 2.12
12 X-linked clonality testing: interpretation and limitations. Blood 2007 2.04
13 Endothelin-1, vascular endothelial growth factor and systolic pulmonary artery pressure in patients with Chuvash polycythemia. Haematologica 2006 2.04
14 Congenital polycythemias/erythrocytoses. Haematologica 2005 1.99
15 Regulated expression of microRNAs in normal and polycythemia vera erythropoiesis. Exp Hematol 2007 1.98
16 Hematopoiesis is not clonal in healthy elderly women. Blood 2008 1.95
17 Discrimination of polycythemias and thrombocytoses by novel, simple, accurate clonality assays and comparison with PRV-1 expression and BFU-E response to erythropoietin. Blood 2002 1.76
18 Mutations in the VHL gene in sporadic apparently congenital polycythemia. Blood 2002 1.65
19 Genetic association analysis of chronic mountain sickness in an Andean high-altitude population. Haematologica 2005 1.59
20 Quantification of fibrosis and osteosclerosis in myeloproliferative neoplasms: a computer-assisted image study. Leuk Res 2010 1.54
21 Clonal hematopoiesis in familial polycythemia vera suggests the involvement of multiple mutational events in the early pathogenesis of the disease. Blood 2003 1.52
22 High levels of circulating CD34 cells, dacrocytes, clonal hematopoiesis, and JAK2 mutation differentiate myelofibrosis with myeloid metaplasia from secondary myelofibrosis associated with pulmonary hypertension. Blood 2006 1.52
23 Copper deficiency masquerading as myelodysplastic syndrome. Blood 2002 1.51
24 Allogeneic hematopoietic stem-cell transplantation with reduced-intensity conditioning in intermediate- or high-risk patients with myelofibrosis with myeloid metaplasia. Blood 2005 1.48
25 Detection of JAK2 mutations in paraffin marrow biopsies by high resolution melting analysis: identification of L611S alone and in cis with V617F in polycythemia vera. Leuk Lymphoma 2012 1.46
26 Aberrant expression of microRNA in polycythemia vera. Haematologica 2008 1.37
27 The evolution of cellular deficiency in GATA2 mutation. Blood 2013 1.36
28 Constitutive mobilization of CD34+ cells into the peripheral blood in idiopathic myelofibrosis may be due to the action of a number of proteases. Blood 2005 1.35
29 Concordance of assays designed for the quantification of JAK2V617F: a multicenter study. Haematologica 2008 1.33
30 Endogenous erythropoietin signaling is required for normal neural progenitor cell proliferation. J Biol Chem 2007 1.32
31 New syndrome of paraganglioma and somatostatinoma associated with polycythemia. J Clin Oncol 2013 1.32
32 Vascular complications in Chuvash polycythemia. Semin Thromb Hemost 2006 1.29
33 Endemic polycythemia in Russia: mutation in the VHL gene. Blood Cells Mol Dis 2002 1.28
34 In vitro expansion of erythroid progenitors from polycythemia vera patients leads to decrease in JAK2 V617F allele. Exp Hematol 2007 1.26
35 Mitochondrial DNA G10398A polymorphism and invasive breast cancer in African-American women. Cancer Res 2006 1.24
36 Disruption of ferroportin 1 regulation causes dynamic alterations in iron homeostasis and erythropoiesis in polycythaemia mice. Development 2004 1.21
37 Genetic determinants of Tibetan high-altitude adaptation. Hum Genet 2011 1.21
38 Lessons from familial myeloproliferative disorders. Semin Hematol 2005 1.20
39 Elevated tricuspid regurgitation velocity and decline in exercise capacity over 22 months of follow up in children and adolescents with sickle cell anemia. Haematologica 2010 1.16
40 Dysregulation of ferroportin 1 interferes with spleen organogenesis in polycythaemia mice. Development 2004 1.14
41 A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma. J Mol Med (Berl) 2012 1.13
42 Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia. Am J Hum Genet 2003 1.10
43 Novel HIF2A mutations disrupt oxygen sensing, leading to polycythemia, paragangliomas, and somatostatinomas. Blood 2013 1.07
44 Divalent metal transporter 1. Hematology 2005 1.07
45 The worldwide distribution of the VHL 598C>T mutation indicates a single founding event. Blood 2003 1.07
46 Angiogenic and inflammatory markers of cardiopulmonary changes in children and adolescents with sickle cell disease. PLoS One 2009 1.07
47 Hypoxia. 5. Hypoxia and hematopoiesis. Am J Physiol Cell Physiol 2011 1.07
48 miR-451 enhances erythroid differentiation in K562 cells. Leuk Lymphoma 2010 1.06
49 Interim analysis of safety and efficacy of ruxolitinib in patients with myelofibrosis and low platelet counts. J Hematol Oncol 2013 1.05
50 Sickle cell disease resulting from uniparental disomy in a child who inherited sickle cell trait. Blood 2010 1.04
51 Treatment target in polycythemia vera. N Engl J Med 2013 1.02
52 The phenotype of polycythemia due to Croatian homozygous VHL (571C>G:H191D) mutation is different from that of Chuvash polycythemia (VHL 598C>T:R200W). Haematologica 2013 0.97
53 New onset of myelofibrosis in association with pulmonary arterial hypertension. Ann Intern Med 2005 0.97
54 Familial polycythemia caused by a novel mutation in the beta globin gene: essential role of P50 in evaluation of familial polycythemia. Int J Med Sci 2007 0.96
55 A novel mutation of the cytochrome-b5 reductase gene in an Indian patient: the molecular basis of type I methemoglobinemia. Haematologica 2006 0.95
56 Pulmonary artery pressure and iron deficiency in patients with upregulation of hypoxia sensing due to homozygous VHL(R200W) mutation (Chuvash polycythemia). Haematologica 2011 0.94
57 Chuvash polycythemia VHLR200W mutation is associated with down-regulation of hepcidin expression. Blood 2011 0.94
58 Erythropoiesis in polycythemia vera is hyper-proliferative and has accelerated maturation. Blood Cells Mol Dis 2009 0.93
59 Allogeneic haematopoietic cell transplantation for myelofibrosis in 30 patients 60-78 years of age. Br J Haematol 2011 0.93
60 Metabolic insight into mechanisms of high-altitude adaptation in Tibetans. Mol Genet Metab 2012 0.93
61 Methylation of AR locus does not always reflect X chromosome inactivation state. Blood 2012 0.93
62 Hypoxic response contributes to altered gene expression and precapillary pulmonary hypertension in patients with sickle cell disease. Circulation 2014 0.92
63 Convergent mechanisms of somatic mutations in polycythemia vera. Discov Med 2011 0.91
64 Severe hypochromic microcytic anemia caused by a congenital defect of the iron transport pathway in erythroid cells. Blood 2004 0.91
65 Regulation of ferrochelatase gene expression by hypoxia. Life Sci 2004 0.90
66 Philadelphia chromosome-negative myeloproliferative disorders: biology and treatment. Biol Blood Marrow Transplant 2007 0.90
67 Decreased serum glucose and glycosylated hemoglobin levels in patients with Chuvash polycythemia: a role for HIF in glucose metabolism. J Mol Med (Berl) 2012 0.90
68 Novel homozygous VHL mutation in exon 2 is associated with congenital polycythemia but not with cancer. Blood 2013 0.89
69 The heterozygote advantage of the Chuvash polycythemia VHLR200W mutation may be protection against anemia. Haematologica 2011 0.89
70 Congenital polycythemia with homozygous and heterozygous mutations of von Hippel-Lindau gene: five new Caucasian patients. Haematologica 2005 0.88
71 Imatinib effect on growth and signal transduction in polycythemia vera. Exp Hematol 2007 0.87
72 The constitutive mobilization of bone marrow-repopulating cells into the peripheral blood in idiopathic myelofibrosis. Blood 2004 0.86
73 JAK2 kinase inhibitors and myeloproliferative disorders. Curr Opin Hematol 2010 0.86
74 The HIF2A gene in familial erythrocytosis. N Engl J Med 2008 0.86
75 Association of G6PD with lower haemoglobin concentration but not increased haemolysis in patients with sickle cell anaemia. Br J Haematol 2010 0.86
76 DMT1 mutation: response of anemia to darbepoetin administration and implications for iron homeostasis. Blood 2006 0.85
77 Heterogeneity of the molecular biology of methemoglobinemia: a study of eight consecutive patients. Haematologica 2005 0.85
78 EPO receptor gain-of-function causes hereditary polycythemia, alters CD34 cell differentiation and increases circulating endothelial precursors. PLoS One 2010 0.85
79 A quantitative allele-specific PCR test for the BRAF V600E mutation using a single heterozygous control plasmid for quantitation: a model for qPCR testing without standard curves. J Mol Diagn 2013 0.85
80 HIF-mediated increased ROS from reduced mitophagy and decreased catalase causes neocytolysis. J Mol Med (Berl) 2015 0.84
81 Erythropoietin receptor signaling regulates both erythropoiesis and megakaryopoiesis in vivo. Blood Cells Mol Dis 2009 0.84
82 Molecular heterogeneity of glucose-6-phosphate dehydrogenase deficiency in Gaza Strip Palestinians. Blood Cells Mol Dis 2012 0.84
83 Increased size of solid organs in patients with Chuvash polycythemia and in mice with altered expression of HIF-1alpha and HIF-2alpha. J Mol Med (Berl) 2010 0.84
84 Genetic adaptation to extreme hypoxia: study of high-altitude pulmonary edema in a three-generation Han Chinese family. Blood Cells Mol Dis 2009 0.84
85 Oxygen-dependent regulation of erythropoiesis. Methods Enzymol 2004 0.84
86 Elevated homocysteine, glutathione and cysteinylglycine concentrations in patients homozygous for the Chuvash polycythemia VHL mutation. Haematologica 2008 0.84
87 Differential sensitivity to JAK inhibitory drugs by isogenic human erythroblasts and hematopoietic progenitors generated from patient-specific induced pluripotent stem cells. Stem Cells 2014 0.83
88 Unexplained extreme hyperbilirubinemia among neonates in a multihospital healthcare system. Blood Cells Mol Dis 2012 0.82
89 Molecular basis of two novel mutations found in type I methemoglobinemia. Blood Cells Mol Dis 2011 0.82
90 Anti-inflammatory effect of methyl dehydrojasmonate (J2) is mediated by the NF-κB pathway. J Mol Med (Berl) 2010 0.82
91 Acute kernicterus in a neonate with O/B blood group incompatibility and a mutation in SLC4A1. Pediatrics 2013 0.82
92 Enrichment of Sca1+ hematopoietic progenitors in polycythemic mice inhibits leukemogenesis. Blood 2009 0.81
93 Extent of hematopoietic involvement by TET2 mutations in JAK2V⁶¹⁷F polycythemia vera. Haematologica 2011 0.81
94 Polycythemia vera and its molecular basis: an update. Best Pract Res Clin Haematol 2006 0.81
95 Hemolysis and Mediterranean G6PD mutation (c.563 C>T) and c.1311 C>T polymorphism among Palestinians at Gaza Strip. Blood Cells Mol Dis 2012 0.81
96 Search for genetic determinants of individual variability of the erythropoietin response to high altitude. Blood Cells Mol Dis 2003 0.81
97 Novel exon 2 α spectrin mutation and intragenic crossover: three morphological phenotypes associated with four distinct α spectrin defects. Haematologica 2013 0.80
98 Epigenetic control of PRV-1 expression on neutrophils. Exp Hematol 2007 0.80
99 Angiotensin II receptor type 1 expression in erythroid progenitors: Implications for the pathogenesis of postrenal transplant erythrocytosis. Semin Nephrol 2004 0.80
100 Neonatal death suspected to be from sepsis was found to be kernicterus with G6PD deficiency. Pediatrics 2013 0.80
101 Concomitant JAK2 V617F-positive polycythemia vera and B-cell chronic lymphocytic leukemia in three patients originating from two separate hematopoietic stem cells. Am J Hematol 2012 0.80
102 Anemia of chronic disease (anemia of inflammation). Acta Haematol 2009 0.80
103 Marrow fibrosis does not account for circulating CD34+ cells in myelofibrosis with myeloid metaplasia. Haematologica 2007 0.79
104 Novel compound VHL heterozygosity (VHL T124A/L188V) associated with congenital polycythaemia. Br J Haematol 2013 0.79
105 Imatinib mesylate therapy for polycythemia vera: final result of a phase II study initiated in 2001. Int J Hematol 2009 0.79
106 In vitro and in vivo characterization of SGI-1252, a small molecule inhibitor of JAK2. Exp Hematol 2010 0.79
107 Variations in both α-spectrin (SPTA1) and β-spectrin ( SPTB ) in a neonate with prolonged jaundice in a family where nine individuals had hereditary elliptocytosis. Neonatology 2013 0.78
108 Mouse surviving solely on human erythropoietin receptor (EpoR): model of human EpoR-linked disease. Blood 2002 0.78
109 Novel α-spectrin mutation in trans with α-spectrin causing severe neonatal jaundice from hereditary spherocytosis. Neonatology 2014 0.78
110 Erythropoietic agents and the elderly. Semin Hematol 2008 0.78
111 Missense mutation of the last nucleotide of exon 1 (G->C) of beta globin gene not only leads to undetectable mutant peptide and transcript but also interferes with the expression of wild allele. Haematologica 2007 0.78
112 Detection of nine Mediterranean β-thalassemia mutations in Palestinians using three restriction enzyme digest panels: a reliable method for developing countries. Hemoglobin 2013 0.77
113 Are erythropoietin receptors expressed in tumors? Facts and fiction--more careful studies are needed. J Clin Oncol 2007 0.77
114 Genetic mechanisms underlying regulation of hemoglobin mass. Adv Exp Med Biol 2007 0.77
115 Idiopathic erythrocytosis and other non-clonal polycythemias. Best Pract Res Clin Haematol 2006 0.77
116 RUNX1 and NF-E2 upregulation is not specific for MPNs, but is seen in polycythemic disorders with augmented HIF signaling. Blood 2013 0.77
117 Plasma quantitation of JAK2 mutation is not suitable as a clinical test: an artifact of storage. Blood 2009 0.77
118 The homozygous VHL(D126N) missense mutation is associated with dramatically elevated erythropoietin levels, consequent polycythemia, and early onset severe pulmonary hypertension. Pediatr Blood Cancer 2014 0.77
119 Cre recombinase expression controlled by the hematopoietic regulatory domain of Gata-1 is erythroid-specific. Blood Cells Mol Dis 2008 0.76
120 Does HUMARA assay for assessment of clonal hematopoiesis have shortcomings? Blood 2009 0.75
121 Could hypoxia increase the prevalence of thrombotic complications in polycythemia vera? Blood Coagul Fibrinolysis 2013 0.75
122 Pediatric essential thrombocythemia (ET) from the Czech Republic. Leuk Res 2007 0.75
123 β-Thalassemia due to intronic LINE-1 insertion in the β-globin gene (HBB): molecular mechanisms underlying reduced transcript levels of the β-globin(L1) allele. Hum Mutat 2013 0.75
124 Does erythropoietin promote tumor growth? Clin Cancer Res 2008 0.75
125 Revised criteria for the myeloproliferative disorders: too much too soon? Blood 2008 0.75
126 Pure red-cell aplasia and recombinant erythropoietin. N Engl J Med 2002 0.75
127 Is congenital secondary erythrocytosis/polycythemia caused by activating mutations within the HIF-2 alpha iron-responsive element? Blood 2007 0.75
128 Study of two tyrosine kinase inhibitors on growth and signal transduction in polycythemia vera. Exp Hematol 2007 0.75
129 Recent advances in the molecular biology of congenital polycythemias and polycythemia vera. Curr Hematol Rep 2005 0.75
130 Clonality studies in cancer based on X chromosome inactivation phenomenon. Methods Mol Med 2002 0.75
131 Measuring End-Tidal Carbon Monoxide of Jaundiced Neonates in the Birth Hospital to Identify Those with Hemolysis. Neonatology 2015 0.75
132 Philadelphia chromosome-negative myeloproliferative disorders: an historical perspective. Hematology Am Soc Hematol Educ Program 2008 0.75
133 Instability of PRV-1 mRNA: a factor to be considered in PRV-1 quantification for the diagnosis of polycythemia vera. Haematologica 2004 0.75
134 Possible primary familial and congenital polycythemia locus at 7q22.1-7q22.2. Blood Cells Mol Dis 2003 0.75
135 Chronic myeloproliferative disorders--introduction. Semin Hematol 2005 0.75
136 Idiopathic myelofibrosis without dacryocytes. Haematologica 2006 0.75