Genomes and Genes
Summary: An increase in the total red cell mass of the blood. (Dorland, 27th ed)
Publications276 found, 100 shown here
- Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemiaZhengping Zhuang
Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
N Engl J Med 367:922-30. 2012..in two patients, one presenting with paraganglioma and the other with paraganglioma and somatostatinoma, both of whom had polycythemia. The two mutations were associated with increased HIF-2α activity and increased protein half-life.
- Increased size of solid organs in patients with Chuvash polycythemia and in mice with altered expression of HIF-1alpha and HIF-2alphaDonghoon Yoon
Department of Medicine, University of Utah, Salt Lake, UT 84132, USA
J Mol Med (Berl) 88:523-30. 2010Chuvash polycythemia, the first hereditary disease associated with dysregulated oxygen-sensing to be recognized, is characterized by a homozygous germ-line loss-of-function mutation of the VHL gene (VHL(R200W)) resulting in elevated ..
- Disruption of oxygen homeostasis underlies congenital Chuvash polycythemiaSonny O Ang
Department of Medicine, Baylor College of Medicine, Houston, Texas 77030, USA
Nat Genet 32:614-21. 2002Chuvash polycythemia is an autosomal recessive disorder that is endemic to the mid-Volga River region. We previously mapped the locus associated with Chuvash polycythemia to chromosome 3p25...
- Zebrafish mutants in the von Hippel-Lindau tumor suppressor display a hypoxic response and recapitulate key aspects of Chuvash polycythemiaEllen van Rooijen
Department of Medical Oncology, University Medical Center, Utrecht, The Netherlands
Blood 113:6449-60. 2009..The vhl mutants develop polycythemia with concomitantly increased epo/epor mRNA levels and erythropoietin signaling...
- Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumorsVictor R Gordeuk
Center for Sickle Cell Disease, Department of Medicine, Howard University, Washington, DC 20059, USA
Blood 103:3924-32. 2004..Chuvash polycythemia is a hypoxia-sensing disorder characterized by homozygous mutation (598C>T) of von Hippel-Lindau gene (VHL), ..
- Deletion of iron regulatory protein 1 causes polycythemia and pulmonary hypertension in mice through translational derepression of HIF2αManik C Ghosh
Molecular Medicine Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD 20892, USA
Cell Metab 17:271-81. 2013..We report here that mice with targeted deletion of Irp1 developed pulmonary hypertension and polycythemia that was exacerbated by a low-iron diet...
- Late vs early clamping of the umbilical cord in full-term neonates: systematic review and meta-analysis of controlled trialsEileen K Hutton
Department of Obstetrics and Gynecology, McMaster University, Hamilton, Ontario
JAMA 297:1241-52. 2007..With few exceptions, the umbilical cord of every newborn is clamped and cut at birth, yet the optimal timing for this intervention remains controversial...
- Erythropoietin gene expression in renal carcinoma is considerably more frequent than paraneoplastic polycythemiaMichael S Wiesener
Interdisciplinary Centre for Clinical Research IZKF, Friedrich Alexander University of Erlangen Nuremburg, Erlangen, Germany
Int J Cancer 121:2434-42. 2007..Paraneoplastic polycythemia by cancerous overproduction of EPO is a rare event, but most frequently seen in patients with renal cell ..
- Failure of polycythemia-induced increase in arterial oxygen content to suppress the anorexic effect of simulated high altitude in the adult ratMaría F Norese
Department of Physiology, Faculty of Odontology, University of Buenos Aires, Buenos Aires, Argentina
High Alt Med Biol 3:49-57. 2002..This study was then performed to evaluate the effects of either transfusion-induced polycythemia or previous acclimation to hypobaria with endogenously induced polycythemia on the anorexic effect of simulated ..
- The anti-inflammatory agent N-acetyl cysteine exacerbates endotoxin-induced hypoxemia and hypotension and induces polycythemia in the ovine fetusMegan E Probyn
School of Biomedical Sciences, Monash University, Clayton, Vic, Australia
Neonatology 98:118-27. 2010....
- The phenotype of polycythemia due to Croatian homozygous VHL (571C>G:H191D) mutation is different from that of Chuvash polycythemia (VHL 598C>T:R200W)Nikica Ljubas Tomasic
Division of Neonatology, University Hospital Merkur, Zagreb, Croatia
Haematologica 98:560-7. 2013..Only two known inherited homozygous VHL mutations exist and they cause polycythemia: Chuvash R200W and Croatian H191D...
- Polycythemia as the first manifestation of Cushing's diseaseA Gursoy
Department of Endocrinology and Metabolic Disease, Faculty of Medicine, Baskent University, 06490, Ankara, Turkey
J Endocrinol Invest 29:742-4. 2006..His follow-up for erythrocytosis had begun 2 yr earlier in another hospital and he had been diagnosed with polycythemia rubra vera...
- Novel homozygous VHL mutation in exon 2 is associated with congenital polycythemia but not with cancerLucie Lanikova
Division of Hematology, University of Utah and VA Health Care, Salt Lake City, UT 84132, USA
Blood 121:3918-24. 2013..However, recessively inherited congenital polycythemia, exemplified by Chuvash polycythemia, has been associated with 2 separate 3' VHL gene mutations in exon 3...
- Comprehensive geriatric assessment of elderly highlanders in Qinghai, China II: the association of polycythemia with lifestyle-related diseases among the three ethnicitiesKiyohito Okumiya
Research Institute for Humanity and Nature, 457 4 Motoyama, Kamigamo, Kita ku, Kyoto 603 8047, Japan
Geriatr Gerontol Int 9:342-51. 2009The objective of this study is to disclose the association of polycythemia with lifestyle-related diseases (hypertension, obesity and glucose intolerance) among the three ethnicities in Qinghai, China.
- [Polycythemia]D Kohler
Fachkrankenhaus Kloster Grafschaft, Schmallenberg
Dtsch Med Wochenschr 135:2300-3. 2010b>Polycythemia is defined by the increase of hematocrit and haemoglobin respectively. Possible causes might be neoplastic diseases like polycythemia vera with proliferation of a cell clone...
- Effects of polycythemia on systemic endothelial function in chronic hypoxic lung diseaseLaurent Boyer
Hopital Henri Mondor, Service de Physiologie Explorations Fonctionnelles, Assistance Publique Hopitaux de Paris, Université Paris Est Créteil Val de Marne, Creteil, France
J Appl Physiol (1985) 110:1196-203. 2011Chronic obstructive pulmonary disease (COPD) is a major risk factor for cardiovascular disease. Polycythemia, a common complication of hypoxic COPD, may affect systemic vascular function by altering blood viscosity, vessel wall shear ..
- Novel HIF2A mutations disrupt oxygen sensing, leading to polycythemia, paragangliomas, and somatostatinomasChunzhang Yang
Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20894, USA
Blood 121:2563-6. 2013..gain-of-function somatic mutations in patients presenting with multiple paragangliomas or somatostatinomas, and polycythemia. Here, we report 2 additional unique HIF2A mutations, which disrupt the hydroxylation domain recognized by ..
- Decreased serum glucose and glycosylated hemoglobin levels in patients with Chuvash polycythemia: a role for HIF in glucose metabolismDonald A McClain
Department of Internal Medicine, University of Utah and VA Medical Center, Salt Lake City, UT, USA
J Mol Med (Berl) 91:59-67. 2013In Chuvash polycythemia, a homozygous 598C>T mutation in the von Hippel-Lindau gene (VHL) leads to an R200W substitution in VHL protein, impaired degradation of α-subunits of hypoxia-inducible factor (HIF)-1 and HIF-2, and augmented ..
- Gene expression profiling of high altitude polycythemia in Han Chinese migrating to the Qinghai-Tibetan plateauChunhua Jiang
Department of Pathophysiology and High Altitude Physiology, College of High Altitude Military Medicine, Third Military Medical University, Chongqing 400038, PR China
Mol Med Rep 5:287-93. 2012..High altitude polycythemia (HAPC) is the most characteristic sign of CMS. However, the pathogenesis of HAPC is poorly understood...
- Poor sleep quality predicts decreased cognitive function independently of chronic mountain sickness score in young soldiers with polycythemia stationed in TibetFan Yi Kong
Department of Neurology, Kunming General Hospital of PLA, Kunming, Yunnan Province, PR China
High Alt Med Biol 12:237-42. 2011Little is known about the association between poor sleep and cognitive function in people with polycythemia at high altitude...
- Distinct deregulation of the hypoxia inducible factor by PHD2 mutants identified in germline DNA of patients with polycythemiaCharline Ladroue
Villejuif et Faculté de Médecine Paris Sud, Génétique Oncologique EPHE, INSERM U753, Institut de Cancerologie Gustave Roussy, Le Kremlin Bicetre, France
Haematologica 97:9-14. 2012..is the Arginine 200-Tryptophan mutant of the von Hippel-Lindau tumor suppressor gene, resulting in Chuvash polycythemia. This mutant displays a weak deficiency in hypoxia inducible factor α regulation and does not promote ..
- Low frequency of VHL gene mutations in young individuals with polycythemia and high serum erythropoietinMaria Luigia Randi
Haematologica 90:689-91. 2005In one out of six young individuals with polycythemia and high erythropoietin levels we found a heterozygous VHL gene mutation (430G->A;Gly144Arg). The man's unaffected mother and sister carry the same mutation...
- Neonatal polycythemia and hyperviscosityShikha Sarkar
Department of Pediatrics, Division of Neonatal Perinatal Medicine, University of Connecticut School of Medicine, Farmington, CT 06030, USA
Semin Fetal Neonatal Med 13:248-55. 2008Neonatal polycythemia and hyperviscosity are defined as a hematocrit > or =65% and a viscosity value >2 standard deviations greater than the norm...
- Polycythemia associated with a hemoglobinopathyS Charache
J Clin Invest 45:813-22. 1966
- Quantification of PRV-1 mRNA distinguishes polycythemia vera from secondary erythrocytosisSteffen Klippel
Department of Experimental Anaesthesiology, University Hospital Freiburg, Center for Clinical Research, Breisacher Str 66, 79106 Freiburg, Germany
Blood 102:3569-74. 2003To date, the diagnosis of polycythemia vera (PV) relies on clinical criteria. We have recently described the overexpression of a hematopoietic receptor, polycythemia rubra vera-1 (PRV-1), in patients with PV...
- Human erythropoietin induces lung failure and erythrocytosis in transgenic miceMyoung Ok Kim
School of Life Sciences and Biotechnology, College of Natural Sciences, Kyungpook National University, Daegu 702 701, Korea
Mol Cells 23:17-22. 2007..The number of red blood cell, white blood cell and hemoglobin in the hEPO transgenic mice was higher than in normal mice. These results indicate that overexpression of hEPO is deleterious and can provoke lung failure and erythrocytosis...
- Late emergence of polycythemia in a case of Hb Chandigarh [beta94(FG1)Asp-->Gly]Sumitra Dash
Hemoglobin 28:273-4. 2004
- A unique form of polycythemia associated with minimal change diseaseMustafa Balal
Department of Internal Medicine, Cukurova University Medical Faculty, Adana, Turkey
Med Princ Pract 13:366-8. 2004To present a case with nephrotic syndrome due to minimal change disease and polycythemia. CLINICAL PRESENTATION and
- Novel somatic mutations of the VHL gene in an erythropoietin-producing renal carcinoma associated with secondary polycythemia and elevated circulating endothelial progenitor cellsFarhad Haghighi Rad
INSERM Unit 602, Villejuif, France
Am J Hematol 83:155-8. 2008..With this regard, we analyzed a patient with EPO-producing clear-cell RCC and polycythemia. DNA extraction and sequencing analysis of the VHL gene were performed from the tumor and the adjacent normal ..
- Loss of JAK2 regulation via a heterodimeric VHL-SOCS1 E3 ubiquitin ligase underlies Chuvash polycythemiaRyan C Russell
Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada
Nat Med 17:845-53. 2011Chuvash polycythemia is a rare congenital form of polycythemia caused by homozygous R200W and H191D mutations in the VHL (von Hippel-Lindau) gene, whose gene product is the principal negative regulator of hypoxia-inducible factor...
- Anabolic steroids, acute myocardial infarction and polycythemia: a case report and review of the literatureKathleen Stergiopoulos
Division of Cardiovascular Medicine, Department of Internal Medicine, Stony Brook University Medical Center, Stony Brook, NY 11794 8167, USA
Vasc Health Risk Manag 4:1475-80. 2008..In addition, this patient also had polycythemia, likely secondary to high-dose testosterone...
- Janus Kinase V617F mutation in cigarette smokersIdo Weinberg
Internal Medicine Division, Hadassah Hebrew University Medical Center, Jerusalem, Israel
Am J Hematol 87:5-8. 2012..responsible for the constitutive activation of the erythropoietin receptor signaling pathway in most cases of polycythemia vera (PV). The mutation has also been described in healthy people...
- Chuvash polycythemia VHLR200W mutation is associated with down-regulation of hepcidin expressionVictor R Gordeuk
Center for Sickle Cell Disease, Department of Medicine, Howard University, Washington, DC 20060, USA
Blood 118:5278-82. 2011..In conclusion, up-regulation of the hypoxic response leads to decreased expression of hepcidin that may be independent of increased erythropoietin levels and increased RBC counts...
- Manganese toxicity in a child with iron deficiency and polycythemiaPaula Brna
Division of Neurology, Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada
J Child Neurol 26:891-4. 2011..She had concurrent severe iron deficiency and polycythemia. Her magnetic resonance imaging (MRI) scan showed increased signal in the basal ganglia on T1-weighted images ..
- Familial polycythemia caused by a novel mutation in the beta globin gene: essential role of P50 in evaluation of familial polycythemiaNeeraj Agarwal
Department of Internal Medicine, University of Utah, Salt Lake City, Utah, USA
Int J Med Sci 4:232-6. 2007..Their differentiation from polycythemia vera (PV) is crucial to avoid therapy which is otherwise reserved for PV patients...
- Polycythemia, HIF-1alpha and pulmonary hypertension in ChuvashMark T Gladwin
Vascular Medicine Branch National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, USA
Haematologica 91:722. 2006
- Hemoglobins with high oxygen affinity leading to erythrocytosis. New variants and new conceptsHenri Wajcman
INSERM U654, Bases Moléculaire et Cellulaires des Malades Génétiques, Hopital Henri Mondor, Creteil, France
Hemoglobin 29:91-106. 2005..Other mechanisms leading to erythrocytosis are discussed, and finally, an algorithm is proposed for etiological diagnosis...
- EPO receptor gain-of-function causes hereditary polycythemia, alters CD34 cell differentiation and increases circulating endothelial precursorsSilverio Perrotta
Department of Pediatrics, Second University of Naples, Naples, Italy
PLoS ONE 5:e12015. 2010Gain-of-function of erythropoietin receptor (EPOR) mutations represent the major cause of primary hereditary polycythemia. EPOR is also found in non-erythroid tissues, although its physiological role is still undefined.
- Increased cell surface expression of C-terminal truncated erythropoietin receptors in polycythemiaT Motohashi
Department of Immunology, Institute of Basic Medical Sciences, University of Tsukuba and CREST JST, Tsukuba, Ibaraki, Japan
Eur J Haematol 67:88-93. 2001Primary familial and congenital polycythemia (PFCP) is a disorder characterized by an increased number of erythrocytes despite normal blood oxygen pressure and a normal serum erythropoietin (EPO) level...
- Potent and selective inhibition of polycythemia by the quinoxaline JAK2 inhibitor NVP-BSK805Fabienne Baffert
Disease Area Oncology, Novartis Institutes for BioMedical Research, 4057 Basel, Switzerland
Mol Cancer Ther 9:1945-55. 2010..Strikingly, the JAK2(V617F) mutation is found in nearly all patients suffering from polycythemia vera and in roughly every second patient suffering from essential thrombocythemia and primary myelofibrosis...
- A gain-of-function mutation in the HIF2A gene in familial erythrocytosisMelanie J Percy
Belfast City Hospital, Northern Ireland, United Kingdom
N Engl J Med 358:162-8. 2008..Our functional studies indicate that this mutation leads to stabilization of the HIF-2alpha protein and suggest that wild-type HIF-2alpha regulates erythropoietin production in adults...
- Haemoglobin level and its clinical impact in a cohort of patients with COPDC Cote
Bay Pines Veterans Affairs Medical Centre VAMC, 10, 000 Bay Pines Boulevard, Bay Pines FL 33744, USA
Eur Respir J 29:923-9. 2007..Anaemia was present in 116 (17%) patients and polycythemia in 40 (6%)...
- Erythropoietin hypersensitivity in primary familial and congenital polycythemia: role of tyrosines Y285 and Y344 in erythropoietin receptor cytoplasmic domainMurat O Arcasoy
Department of Medicine, Divisions of Hematology and Medical Oncology, Duke University Medical Center, DUMC Box 3912, Durham, NC 27710
Biochim Biophys Acta 1740:17-28. 2005..carboxy-terminal region of EPOR have been described in some patients with primary familial and congenital polycythemia (PFCP), a disorder characterized by isolated erythrocytosis and increased sensitivity of erythroid progenitors ..
- Trough serum testosterone predicts the development of polycythemia in hypogonadal men treated for up to 21 years with subcutaneous testosterone pelletsFlora F Ip
Department of Andrology, Concord Hospital and ANZAC Research Institute, University of Sydney, Sydney, New South Wales 2139, Australia
Eur J Endocrinol 162:385-90. 2010..We, therefore, sought to define the prevalence, predictors, and proximate basis (role of erythropoietin) for polycythemia (hematocrit >0.50) in hypogonadal men receiving testosterone implants long term.
- Late umbilical cord-clamping as an intervention for reducing iron deficiency anaemia in term infants in developing and industrialised countries: a systematic reviewPatrick van Rheenen
Emma Kinderziekenhuis, Academic Medical Centre, Amsterdam, The Netherlands
Ann Trop Paediatr 24:3-16. 2004..In developing countries where fetal anaemia is common, the advantages of delayed cord-clamping might be especially beneficial...
- Ligand-induced EpoR internalization is mediated by JAK2 and p85 and is impaired by mutations responsible for primary familial and congenital polycythemiaRita Sulahian
Departments of Cell Biology, University of Texas Southwestern Medical Center at Dallas, 75390 9039, USA
Blood 113:5287-97. 2009..Furthermore, mutated EpoRs from primary familial and congenital polycythemia (PFCP) patients lacking the 3 important tyrosines do not bind p85 or internalize on stimulation...
- Transgenic mice overexpressing erythropoietin adapt to excessive erythrocytosis by regulating blood viscosityJohannes Vogel
Institute of Veterinary Physiology, University of Zurich, Winterthurerstrasse 260, CH 8057 Zurich, Switzerland
Blood 102:2278-84. 2003..Apart from the nitric oxide-mediated vasodilation we reported earlier, adaptation to high hematocrit levels in tg mice involves regulated elevation of blood viscosity by increasing erythrocyte flexibility...
- Excessive erythrocytosis in adult mice overexpressing erythropoietin leads to hepatic, renal, neuronal, and muscular degenerationKatja Heinicke
Institute of Veterinary Physiology, Vetsuisse Faculty and Zurich Center for Integrative Human Physiology ZIHP, Switzerland
Am J Physiol Regul Integr Comp Physiol 291:R947-56. 2006..This model allows investigation of the impact of excessive erythrocytosis in individuals suffering from polycythemia vera, chronic mountain sickness, or in subjects tempted to abuse Epo by means of gene doping.
- Effects of hemoglobin on pulmonary arterial pressure and pulmonary vascular resistance in patients with chronic emphysemaA Nakamura
Department of Respiratory Medicine, Hamamatsu Medical Center, Hamamatsu, Japan
Respiration 67:502-6. 2000The increase in viscosity caused by secondary polycythemia is thought to be one of the major causes of pulmonary hypertension secondary to chronic emphysema...
- Chronic inborn erythrocytosis leads to cardiac dysfunction and premature death in mice overexpressing erythropoietinK F Wagner
Department of Anesthesiology, The Institute of Physiology, University of Lubeck, Lubeck, Germany
Blood 97:536-42. 2001..In addition, life expectancy of the tg mice was significantly reduced to 7.4 months. Our findings suggest that severe erythrocytosis per se results in cardiac dysfunction and markedly reduced life span...
- The early effects of delayed cord clamping in term infants born to Libyan mothersMusbah Omar Emhamed
Child and Reproductive Health Group, Liverpool School of Tropical Medicine, Liverpool, UK
Trop Doct 34:218-22. 2004..It is a safe, simple and low cost delivery procedure that should be incorporated in integrated programmes aimed at reducing iron deficiency anaemia in infants in developing countries...
- The rate of progression to polycythemia vera or essential thrombocythemia in patients with erythrocytosis or thrombocytosisMarco Ruggeri
S Bortolo Hospital, Vicenza, Italy
Ann Intern Med 139:470-5. 2003..The clinical relevance of mild erythrocytosis (hematocrit > 0.48 in women or > 0.51 in men) or thrombocytosis (platelet count > 400 x 10(9) cells/L) in asymptomatic persons is uncertain...
- Differential diagnosis and management of polycythemiaAthina Pappas
Division of Neonatal Perinatal Medicine, Wayne State University School of Medicine, Children s Hospital of Michigan, 3901 Beaubien, Detroit, MI 48201, USA
Pediatr Clin North Am 51:1063-86, x-xi. 2004..Fortunately, relatively few infants who have neonatal polycythemia or hyperviscosity develop complications attributable to their thick blood; however, controversy and the need ..
- Paradoxical secondary polycythemia in von Hippel-Lindau patients treated with anti-vascular endothelial growth factor receptor therapyStephane Richard
Génétique Oncologique EPHE, UPRESS 1601, Service d Urologie, Laboratoire d Hematologie, CNRS UMR 8603, Hopital Necker, Paris, France
Blood 99:3851-3. 2002..We observed, after 3 to 4 months of treatment, secondary paradoxical polycythemia in 3 VHL patients with CNS or retinal hemangioblastomas treated by the anti-VEGF receptor SU5416...
- The complete evaluation of erythrocytosis: congenital and acquiredM M Patnaik
Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, MN 55905, USA
Leukemia 23:834-44. 2009..Clonal erythrocytosis is the diagnostic feature of polycythemia vera (PV) and is almost always associated with a JAK2 mutation (JAK2V617F or exon 12)...
- Guidelines for the diagnosis, investigation and management of polycythaemia/erythrocytosisMary F McMullin
Department of Haematology, Queen s University, Belfast, Belfast City Hospital, Belfast, UK
Br J Haematol 130:174-95. 2005
- The diagnosis and management of polycythemia vera in the era since the Polycythemia Vera Study Group: a survey of American Society of Hematology members' practice patternsMichael B Streiff
Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA
Blood 99:1144-9. 2002The Polycythemia Vera Study Group (PVSG) was organized in 1967 to identify the optimal approach to the diagnosis and treatment of polycythemia vera (PV)...
- Paraneoplastic syndromes in cancer: Case 1. Polycythemia as a result of ectopic erythropoietin production in metastatic pancreatic carcinoid tumorI Samyn
Department of Medical Oncology and Hematology, Oncologic Center, Laarbeeklaan, Belgium
J Clin Oncol 22:2240-2. 2004
- Detection of JAK2 exon 12 mutations in 15 patients with JAK2V617F negative polycythemia veraSusanne Schnittger
MLL, Munich Leukemia Laboratory, Max Lebsche Platz 31, 81377 Munich, Germany
Haematologica 94:414-8. 2009To further characterize JAK2 exon 12 mutations, we performed molecular screening in 409 patients with polycythemia vera or unclear erythrocytosis with unmutated JAK2V617. The frequency of JAK2exon12 mutations was 10/63 (15...
- Phenotypic variations and new mutations in JAK2 V617F-negative polycythemia vera, erythrocytosis, and idiopathic myelofibrosisDonna M Williams
Johns Hopkins University School of Medicine, Baltimore, MD21205, USA
Exp Hematol 35:1641-6. 2007The chronic myeloproliferative disorders (MPD), polycythemia vera (PV), essential thrombocytosis, and idiopathic myelofibrosis (IMF), are characterized by a spectrum of clinical features and linked by common genetic lesions in JAK2 and ..
- Disturbance in the HIF-1alpha pathway associated with erythrocytosis: further evidences brought by frameshift and nonsense mutations in the prolyl hydroxylase domain protein 2 (PHD2) geneMaha Al-Sheikh
INSERM, U841, Creteil, F 94000, France
Blood Cells Mol Dis 40:160-5. 2008..In addition to erythrocytosis, other complications, such as inflammatory arthromyalgia, have been observed in one case...
- von Hippel-Lindau mutation in mice recapitulates Chuvash polycythemia via hypoxia-inducible factor-2alpha signaling and splenic erythropoiesisMichele M Hickey
Abramson Family Cancer Research Institute, Cell and Molecular Biology Graduate Group, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
J Clin Invest 117:3879-89. 2007..protein (pVHL) is unique in that it is not associated with tumor development, but rather with Chuvash polycythemia, a heritable disease characterized by elevated hematocrit and increased serum levels of erythropoietin and VEGF...
- Somatic inactivation of the PHD2 prolyl hydroxylase causes polycythemia and congestive heart failureYoji Andrew Minamishima
Department of Medical Oncology, Brigham and Women s Hospital and Dana Farber Cancer Institute, Harvard Medical School, Boston, MA 02115, USA
Blood 111:3236-44. 2008..The latter is likely the result of hyperviscosity syndrome and volume overload, although a direct effect of chronic, high-level HIF stimulation on cardiac myocytes cannot be excluded...
- Perspective: Osler's 1903 paper on polycythemia veraRobert T Means
University of Kentucky Markey Cancer Center, Lexington, Kentucky 40536 0093, USA
Am J Med Sci 335:418-9. 2008
- Familial and congenital polycythemias: a diagnostic approachTom Van Maerken
Department of Pediatric Hematology Oncology, University Hospital Ghent, Belgium
J Pediatr Hematol Oncol 26:407-16. 2004..Therefore, in FCP, one can argue against following the algorithm of the Polycythemia Vera Study Group for the evaluation of an elevated hematocrit level, following instead a more specific ..
- A study of 36 unrelated cases with pure erythrocytosis revealed three new mutations in the erythropoietin receptor geneMaha Al-Sheikh
INSERM, U841, Creteil, France
Haematologica 93:1072-5. 2008..6146A>G (p.Asn487Ser)] and another, a silent one (g.5799G>A). All were heterozygotes. In addition, 2 patients were positive for JAK2 (Val617Phe), and 2 reported elsewhere, were mutated in the PHD2 gene [c.606delG (p.Met202IlefsX71)...
- Evaluation of diagnostic criteria in polycythemia veraT C Pearson
Department of Hematological Medicine, The Guy's, King's, and St Thomas' Hospitals' Medical School, Lambeth Palace Road, London SE1 7EH, UK
Semin Hematol 38:21-4. 2001There is no single diagnostic marker for the only known type of primary acquired erythrocytosis, polycythemia vera (PV). The Polycythemia Vera Study Group (PVSG) used a combination of major and minor diagnostic criteria...
- A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding grooveMelanie J Percy
Department of Haematology, Belfast City Hospital, Belfast, United Kingdom
Blood 110:2193-6. 2007..These findings substantiate PHD2 as a critical enzyme controlling HIF and therefore Epo in humans, and furthermore suggest the location of an active site groove in PHD2 that binds HIF...
- Absence of mutations of the EPO-receptor gene in Greek patients with familial polycythemiaLambros K Bourantas
Eur J Haematol 76:537-8. 2006
- A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasisMelanie J Percy
Department of Haematology, Belfast City Hospital, Belfast BT9 7AB, Northern Ireland, United Kingdom
Proc Natl Acad Sci U S A 103:654-9. 2006..Our findings indicate that PHD2 is critical for normal regulation of HIF in humans...
- Enhanced erythropoietin production during hypobaric hypoxia in mice under treatments to keep the erythrocyte mass from rising: implications for the adaptive role of polycythemiaCarlos E Bozzini
Department of Physiology, Faculty of Odontology, University of Buenos Aires, Argentina
High Alt Med Biol 6:238-46. 2005..hypoxia has not been questioned, but researchers, clinicians, and mountain climbers have had second thoughts on polycythemia as to its appropriateness for hypoxic or altitude hypoxia (HA)...
- Role of erythropoietin receptor signaling in Friend virus-induced erythroblastosis and polycythemiaJi Zhang
Department of Biochemistry, St Jude Children s Research Hospital, 332 North Lauderdale St, Memphis, TN 38105 2794, USA
Blood 107:73-8. 2006Friend virus is an acutely oncogenic retrovirus that causes erythroblastosis and polycythemia in mice...
- Alpha-1-antitrypsin deficiency resulting in a hitherto unseen presentation of hepatocellular carcinoma: polycythemia but with normal alpha fetoproteinDavid Ryan Owen
Department of Geriatric Medicine, Area Q111, Queen Elizabeth II Hospital, Howlands, Welwyn Garden City, Hertfordshire, AL7 4HQ, United Kingdom
World J Gastroenterol 12:4906-7. 2006b>Polycythemia is a known paraneoplastic manifestation of hepatoma, but only in the presence of alpha-fetopro (AFP)...
- An inhibitor of Janus kinase 2 prevents polycythemia in miceAnjili Mathur
Department of Oncology, Merck Research Laboratories, 33 Avenue Louis Pasteur, Boston, MA 02115, USA
Biochem Pharmacol 78:382-9. 2009b>Polycythemia vera (PV) is a myeloproliferative disorder characterized by increased red cell mass and splenomegaly in the absence of secondary causes [Tefferi A., Spivak J.L., Polycythemia vera: scientific advances and current practice...
- JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosisLinda M Scott
University of Cambridge, Cambridge, United Kingdom
N Engl J Med 356:459-68. 2007..for valine at position 617 of the Janus kinase (JAK) 2 gene (JAK2), is often present in patients with polycythemia vera, essential thrombocythemia, and idiopathic myelofibrosis...
- Molecular genetic analyses in familial and sporadic congenital primary erythrocytosisSusana Rives
Department of Pediatric Hematology and Oncology, Hospital Sant Joan de Deu, Barcelona, Spain
Haematologica 92:674-7. 2007..All familial cases, varied in phenotype, presented the EPOR 1414C->G (Tyr426Stop) mutation. JAK2 mutations are not involved in the pathogenesis of primary congenital erythrocytosis...
- Idiopathic systemic capillary leak syndrome misdiagnosed and treated as polycythemia veraMichael Doubek
Department of Internal Medicine Hematology Oncology, University Hospital Brno, Brno, Czech Republic
Acta Haematol 113:150-1. 2005
- Hb Johnstown [beta109(G11)Val-->Leu]: A high oxygen affinity variant associated with beta0-thalassemiaAurora Feliu-Torres
Servicio de Hematología Oncología, Hospital de Pediatría Professor Dr Juan P Garrahan, Buenos Aires, Argentina
Hemoglobin 28:335-8. 2004..The erythrocytosis and low values for actual P50 due to Hb Johnstown were more marked due to the co-inheritance of the beta0-thal...
- The worldwide distribution of the VHL 598C>T mutation indicates a single founding eventEnli Liu
Baylor College of Medicine and Veterans Affairs Medical Center, Houston, TX, USA
Blood 103:1937-40. 2004..congenital defect of hypoxia-sensing homozygosity for VHL 598C>T mutation was recently identified in Chuvash polycythemia. Subsequently, we found this mutation in 11 unrelated individuals of diverse ethnic backgrounds...
- Mutations in the VHL gene in sporadic apparently congenital polycythemiaYves D Pastore
Texas Children s Cancer Center and Hematology Service, Houston, USA
Blood 101:1591-5. 2003..Some rare patients with VHL syndrome have polycythemia, which has been attributed to Epo production by a tumor...
- Polycythemia mimicking venous sinus thrombosisJohn F Healy
University of California, San Diego, La Jolla 92093, USA
AJNR Am J Neuroradiol 23:1402-3. 2002..This hyperattenuation may be mimicked by polycythemia, as shown in this case.
- Mouse model of congenital polycythemia: Homologous replacement of murine gene by mutant human erythropoietin receptor geneV Divoky
Department of Medicine, Division of Hematology, University of Alabama at Birmingham, AL 35294, USA
Proc Natl Acad Sci U S A 98:986-91. 2001..the human erythropoietin receptor (EPOR) result in a dominantly inherited disorder-primary familial congenital polycythemia. This disorder is characterized by increased numbers of erythrocytes (polycythemia) and by in vitro ..
- Two new EPO receptor mutations: truncated EPO receptors are most frequently associated with primary familial and congenital polycythemiasR Kralovics
Division of Hematology Oncology, University of Alabama, Birmingham 35294, USA
Blood 90:2057-61. 1997..Primary familial and congenital polycythemia (PFCP; also known as familial erythrocytosis) is characterized by elevated red blood cell mass, low serum ..
- Heavy cigarette smoking induces hypoxic polycythemia (erythrocytosis) and hyperuricemia in chronic hepatitis C patients with reversal of clinical symptoms and laboratory parameters with therapeutic phlebotomyAbdel Rahman El-Zayadi
Am J Gastroenterol 97:1264-5. 2002
- A common polymorphism in the oxygen-dependent degradation (ODD) domain of hypoxia inducible factor-1alpha (HIF-1alpha) does not impair Pro-564 hydroxylationMelanie J Percy
Department of Haematology, Belfast City Hospital, Belfast, Northern Ireland, BT9 7AB, UK
Mol Cancer 2:31. 2003..The transcriptional regulation of the erythropoietin gene by HIF raises the possibility that HIF may play a role in disorders of erythropoiesis, such as idiopathic erythrocytosis (IE)...
- Both the polycythemia- and anemia-inducing strains of Friend spleen focus-forming virus induce constitutive activation of the Raf-1/mitogen-activated protein kinase signal transduction pathwayK W Muszynski
Intramural Research Support Program, SAIC Frederick, National Cancer Institute Frederick Cancer Research and Development Center, Maryland 21702 1201, USA
J Virol 72:919-25. 1998..This pathway was activated in cells infected with the polycythemia-inducing strain of SFFV, which induces both proliferation and differentiation of erythroid cells in the absence ..
- Classification and molecular biology of polycythemias (erythrocytoses) and thrombocytosisJosef T Prchal
Section of Hematology Oncology, Baylor College of Medicine, One Baylor Plaza, MS 525D, Houston, TX 77030, USA
Hematol Oncol Clin North Am 17:1151-8, vi. 2003..In contrast, the molecular bases of polycythemia vera and essential thrombocythemia remain unknown, thus their diagnostic criteria are imprecise and their ..
- Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosisA de la Chapelle
Department of Medical Genetics, University of Helsinki, Finland
Proc Natl Acad Sci U S A 90:4495-9. 1993..Experimental modifications of the EPOR gene may eventually have therapeutic applications...
- [Idiopathic familial erythrocytosis. Report on a family with autosomal dominant inheritance]W Queisser
Onkologisches Zentrum, Klinikums Mannheim, Fakultät für Klinische Medizin der Universität Heidelberg
Dtsch Med Wochenschr 113:851-6. 1988..For over eight years the propositus has been successfully treated with repeated venous blood lettings...
- Chuvash-type congenital polycythemia in 4 families of Asian and Western European ancestryMelanie J Percy
Department of Haematology, Floor C, Belfast City Hospital, Lisburn Road, Belfast, BT9 7AB, Northern Ireland
Blood 102:1097-9. 2003The Chuvash form of polycythemia is an autosomal recessive disorder common to a large number of families in central Russia...
- Primary familial polycythemia: a frameshift mutation in the erythropoietin receptor gene and increased sensitivity of erythroid progenitors to erythropoietinL Sokol
Division of Hematology Oncology, University of Alabama at Birmingham 35294, USA
Blood 86:15-22. 1995Primary familial and congenital polycythemia (PFCP) is characterized by erythrocytosis with normal arterial PO2, blood P50, and serum erythropoietin (EPO) levels...
- Effects of phlebotomy on a patient with secondary polycythemia and angina pectorisG Piccirillo
Cattedra di Geriatria e Gerontologia Università, La Sapienza, Rome, Italy
Int J Cardiol 44:175-7. 1994A 67-year-old man with polycythemia, secondary to chronic obstructive pulmonary disease, had angina attacks at rest treated successfully by supplementing conventional therapy with frequent phlebotomies...
- Advances in understanding the pathogenesis of primary familial and congenital polycythaemiaLily J Huang
Department of Cell Biology, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX 75390 9039, USA
Br J Haematol 148:844-52. 2010Primary familial and congenital polycythemia (PFCP) is an autosomal-dominant proliferative disorder characterized by erythrocytosis and hypersensitivity of erythroid progenitors to erythropoietin (Epo)...
- The value of bone marrow histology in differentiating between early stage Polycythemia vera and secondary (reactive) PolycythemiasJ Thiele
Institute of Pathology, University of Cologne, Joseph Stelzmannstr 9, D 50924 Cologne, Germany
Haematologica 86:368-74. 2001The diagnostic criteria of the Polycythemia Vera Study Group (PVSG), although generally acknowledged as the gold standard for establishing a diagnosis of polycythemia vera (PV), do not consider bone marrow features...
- Risks of testosterone-replacement therapy and recommendations for monitoringErnani Luis Rhoden
Division of Urology, Beth Israel Deaconess Medical Center, and Harvard Medical School, Boston, USA
N Engl J Med 350:482-92. 2004
- Absence of polycythemia in a child with a unique erythropoietin receptor mutation in a family with autosomal dominant primary polycythemiaR Kralovics
University of Alabama at Birmingham, Division of Hematology Oncology, Birmingham, Alabama 35294 0006, USA
J Clin Invest 102:124-9. 1998Primary familial and congenital polycythemia (PFCP or familial erythrocytosis) is a rare proliferative disorder of erythroid progenitor cells, characterized by elevated erythrocyte mass and hemoglobin concentration, hypersensitivity of ..
- Endemic polycythemia in Russia: mutation in the VHL geneSonny O Ang
Department of Medicine, Baylor College of Medicine, Houston, Texas 77030, USA
Blood Cells Mol Dis 28:57-62. 2002Chuvash polycythemia (CP) is an autosomal recessive condition that is endemic in the Russian mid-Volga River region of Chuvashia...
- Von Hippel-Lindau-dependent polycythemia is endemic on the island of Ischia: identification of a novel clusterSilverio Perrotta
Department of Pediatrics, Second University of Naples, Via Luigi De Crecchio, 4, Naples, Italy
Blood 107:514-9. 2006Chuvash polycythemia (MIM 263400) is an autosomal recessive disorder characterized by a high hemoglobin level, relatively high serum erythropoietin, and early death...
- Transmembrane domain of the envelope gene of a polycythemia-inducing retrovirus determines erythropoietin-independent growthS W Chung
Laboratory of Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892
Proc Natl Acad Sci U S A 86:7957-60. 1989Both the polycythemia-inducing and the anemia-inducing strains of Friend spleen focus-forming virus can induce acute erythroleukemia in susceptible adult mice...
- JAK2 exon 12 mutations in polycythemia vera or idiopathic erythrocytosisLuz Martínez-Avilés
Department of Pathology, Hospital del Mar, IMAS, Barcelona, Spain
Haematologica 92:1717-8. 2007JAK2 exon 12 mutations were detected in 4 out of 20 polycythemia vera and idiopathic erythrocytosis V617F-negative patients and were only present in the myeloid lineage...
- Congenital polycythemias/erythrocytosesVictor R Gordeuk
Center for Sickle Cell Disease and Department of Medicine, Howard University, Washington, DC, USA
Haematologica 90:109-16. 2005..in red blood cell precursors, or from inherited conditions that cause low tissue oxygen tension and secondary polycythemia. Conditions of defective hypoxia sensing feature inappropriately normal or elevated serum erythropoietin (Epo) ..
- Biological Functions of Iron Responsive ElementsRichard S Eisenstein; Fiscal Year: 2012..IRP1-/- mice have profound disturbances in erythropoiesis, including a transient severe polycythemia, and display other symptoms observed in humans with HIF2[unreadable] gain-of-function or in animal models of ..
- VEGF Regulation of Hepatic Erythropoietin SynthesisCalvin Kuo; Fiscal Year: 2009..produces disease in humans, with too few RBCs resulting in anemia, and too many RBCs resulting in polycythemia vera...
- SIGNAL TRANSDUCTION MECHANISMS OF ERYTHROPOIETINBarbara A Miller; Fiscal Year: 2011..of TRPC3 may have important applications in future therapy of diseases of red cell production including polycythemia and certain anemias, such as that of chronic renal failure...
- NFATc3 in chronic hypoxic pulmonary hypertensionLaura V Gonzalez Bosc; Fiscal Year: 2012..PAH), pulmonary vascular resistance rises due to pulmonary vasoconstriction, arterial remodeling and polycythemia leading to right heart failure and death. Rodents exposed to chronic hypobaric hypoxia (CH) develop PAH...
- AKT Signaling and Oxidative Stress Regulation of ErythropoiesisSaghi Ghaffari; Fiscal Year: 2013..devising targeted treatments for a number of erythroid disorders including erythroleukemias, thalassemias, and polycythemia vera...
- Identification of novel target genes for polycythemia vera (PV)Shaoguang Li; Fiscal Year: 2013..by applicant): The JAK2V617F mutation is found in the majority of myeloproliferative neoplasms (MPNs) including polycythemia vera (PV), essential thrombocythemia and primary myelofibrosis...
- Biological Functions of Iron Responsive ElementsRichard S Eisenstein; Fiscal Year: 2013..IRP1-/- mice have profound disturbances in erythropoiesis, including a transient severe polycythemia, and display symptoms of dysregulated stress erythropoiesis...
- Role of JAK2V617F in the Pathogenesis of Myeloproliferative Disorders.Golam Mohi; Fiscal Year: 2013..A somatic point mutation (V617F) in the Janus Kinase 2 (JAK2) has been found in majority of patients with polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF)...
- Inhibition of Histone Deacetylase in Myeloproliferative NeoplasmsGolam Mohi; Fiscal Year: 2012DESCRIPTION (provided by applicant): The myeloproliferative neoplasmss (MPNs) polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) are a group of hematologic malignancies characterized by excessive ..
- Effect of anti-S phase agents on human chromosomesAnindya Dutta; Fiscal Year: 2013..in extensive use for the treatment of cancers and of hematological diseases such as essential thrombocytopenia, polycythemia vera and sickle cell anemia...
- Novel Determinants of Terminal Erythroid MaturationSaghi Ghaffari; Fiscal Year: 2013..cell maturation is critical for devising targeted therapies for red cell disorders including thalassemias, polycythemia vera and anemias, and for developing strategies to generate red blood cells for clinical transfusion...
- In vivo function of macrophage in healthy and diseased erythropoiesisPaul S Frenette; Fiscal Year: 2013..Additionally, in a genetic model of polycythemia vera (PV) from transgenic overexpression of mutated JAK2V617F, we have found that M[unreadable] depletion ..
- Molecular Pathogenesis & Therapy in JAK2 V617F Myeloproliferative DiseaseVirginia Zaleskas; Fiscal Year: 2009..b>Polycythemia vera (PV), essential thromobocythemia (ET), and chronic idiopathic myelofibrosis (CIMF) are MPDs that are as ..
- Molecular Pathogenesis &Therapy of JAK2 V617F-induced Myeloproliferative DiseaseRichard A Van Etten; Fiscal Year: 2012..b>Polycythemia vera (PV), essential thromobocythemia (ET), and chronic idiopathic myelofibrosis (CIMF) are MPDs that are as ..
- Targeting Leukemia Stem Cells with Dietary SeleniumKUMBLE SANDEEP PRABHU; Fiscal Year: 2013..and AML, respectively, and 2) M34+Sca1+kit+ LSCs from Balb/c mice infected with Friend leukemia retrovirus-polycythemia, a model of acute myelogenous leukemia (AML)...
- JAK2 signaling in erythropoiesisLILY JUNSHEN HUANG; Fiscal Year: 2013..Defects in this process result in prolonged signaling in primary and familial congenital polycythemia. In Aim 3, we will employ transcriptional profiling and genome-wide chromatin-immunoprecipitation followed by ..
- Molecular genetic analysis of tyrosine kinases in myeloproliferative disordersRoss L Levine; Fiscal Year: 2010The goal of this proposal is to identify the genetic basis for polycythemia vera (PV), essential thrombocythemia (ET) and agnogenic myeloid metaplasia (AMM), and to develop more effective treatments or these disorders based on genetic ..
- Tyrosine Kinase JAK2 and Myeloproliferative DisordersZhizhuang Joe Zhao; Fiscal Year: 2010..Recently, we and others have identified a mutation in the JAK2 tyrosine kinases in classic MPDs including polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF)...
- The human glucocorticoid receptor and normal and pathological terminal erythroidAnna Rita F Migliaccio; Fiscal Year: 2013..frequency in diseases of terminal EB maturation, associated with overproduction and erythrocytosis, as in polycythemia vera (55%) as well as underproduction (anemia) as in DBA (43%) (Varricchio et al, Blood 2011;218;425-436 and ..
- MPD RESEARCH CONSORTIUMRonald Hoffman; Fiscal Year: 2013..MPD-RC) focuses on the Philadelphia chromosome negative myeloproliferative neoplasms (MPN) including polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF) and has the following goals 1) ..
- MOLECULAR AND CELLULAR BIOLOGY OF THROMBOPOIETINKenneth Kaushansky; Fiscal Year: 2013..is known to underlie the development of congenital and acquired myeloproliferative disorders (MPDs), including polycythemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF)...
- ERYTHROPOIETIC AND HEMODYNAMIC RESPONSE TO HYPOXEMIAJohn Widness; Fiscal Year: 1990..These investigations are relevant to an understanding of the pathophysiology of neonatal polycythemia, a condition associated with acute and chronic morbidities, including persistent fetal circulation, ..
- IN VIVO SIGNALING OF THE ERYTHROPOIETIN RECEPTORSaghi Ghaffari; Fiscal Year: 2002..of EPO-R signaling results in malignancies and other disorders of erythroid cells such as erythroleukemias and polycythemia vera...
- ERYTHROPOIETIN RECEPTOR REGULATION OF ERYTHROPOIESISMURAT ARCASOY; Fiscal Year: 2002..function of the human EpoR using two human disorders o erythropoiesis as models, familial erythrocytosis and polycythemia vera...
- Protein Signatures of Normal versus Paroxysmal Nocturnal Hemoglobinuria PlateletsMonica Bessler; Fiscal Year: 2007..also in other conditions, in which an abnormal clonal hematopoiesis is associated with thrombosis, for example, polycythemia vera or other myeloproliferative syndromes...
- Tyrosine Phosphatase PTP-MEG2 and HematopoiesisZHIZHUANG ZHAO; Fiscal Year: 2009..Deregulation of the process has major pathological implications. Polycythemia vera (PV) is a clonal hematologic disease characterized by excessive production of red cells, granulocytes, and ..
- COOPERATIVE STUDY OF POLYCYTHEMIA VERALouis Wasserman; Fiscal Year: 1980The objectives of this study are to continue the prospective, phase III randomized studies of polycythemia vera, to investigate the treatment of myeloproliferative disorders and to conduct efficacy trials of new agents in the treatment of ..
- EPOR FUSION PARTNER IN TF 1 CELLLisa Schimmenti; Fiscal Year: 2000..Disorders of red cell development such as familial polycythemia and erythroleukemia have been associated with mutations in the EpoR gene...
- Painless Microsampling System for Total Hemoglobin and Hematocrit MonitoringBrian Sullivan; Fiscal Year: 2007..Total hemoglobin and hematocrit are commonly used as markers for many conditions, including: anemia and polycythemia, dehydration, excessive bleeding, cirrhosis, and certin cancers and other chronic illnesses...
- ERYTHROPOIETIN: ITS PRODUCTION & ITS MECHANISM OF ACTIONMark Koury; Fiscal Year: 1993..how EP controls the later stages of normal erythroid cell development and should shed light on diseases such as polycythemia vera and erythroleukemia as well as anemia due to chronic disease or aplasia...
- SIGNAL TRANDUCTION IN POLYCYTHEMIA VERAJerry Spivak; Fiscal Year: 1999DESCRIPTION: The long term objective of our research is to define the mechanisms responsible for polycythemia vera (PV), a clonal disorder of unknown etiology which involves erythroid, myeloid and megakaryocytic progenitor cells...
- PURIFICATION OF PRIMITIVE HEMATOPOIETIC PROGENITOR CELLSRonald Hoffman; Fiscal Year: 1992..For this purpose, CFU-B1 obtained from individuals with A.N.L.L. and those with various M. P. D. such as polycythemia vera, chronic granulocytic leukemia and primary thrombocytosis will be studied...
- SIGNAL TRANSDUCTION THROUGH TH ERYTHROPOIETIN RECEPTORAkhilesh Pandey; Fiscal Year: 2001..Since the m o lecular/developmental defect in several red cell disorders such as polycythemia vera and erythroleukemias is not yet known, it is likely that these studies will lead to identification of ..
- HOWARD UNIVERSITY RESEARCH SCIENTIST AWARDVictor Gordeuk; Fiscal Year: 2009..2. The hypoxic response and sickle cell disease, congenital polycythemia, and HIV- clarify the role of the hypoxic response in the complications of sickle cell disease by comparing ..
- SITE-SPECIFIC MODIFICATION OF SFFV GLYCOPROTEINSRANGA SRINIVAS; Fiscal Year: 1991..A small proportion of gp52 is expressed on the cell surface in polycythemia-inducing strains of SFFV, but not anemia- inducing strains of SFFV...
- LEUKEMIA VIRUS ALTERATIONS OF EPOR FUNCTIONMARK SHOWERS; Fiscal Year: 2001..FVP gp55 induces polycythemia during the first stage of Friend erythroleukemia which is Epo-independent, whereas FVA gp55 induces an anemia ..
- PATHOPHYSIOLOGICAL EFFECTS OF HYPOXIALO CHANG OU; Fiscal Year: 1993..CH invariably elicits polycythemia, pulmonary hypertension (PH) and hypoxemia but peculiarly, these pathophysiological processes become more ..
- REGULATION OF HEMOGLOBIN SWITCHING & ERYTHROPOIESISEsmail Zanjani; Fiscal Year: 1991..sheep before and after treatment with androgens and thyroid hormones; following induction of chronic anemia and polycythemia, chronic partial hepatectomy and/or bilateral nephrectomy, and thyroid gland ablation...
- Hypoxic signaling in hepatocytesVolker Haase; Fiscal Year: 2007..have shown that increased expression of HIF in hepatocytes results in the development of cavernous hemangiomas, polycythemia and hepatocellular steatosis...
- Apoptosis in myelofibrosis with myeloid metaplasiaRuben Mesa; Fiscal Year: 2006..of apoptosis has been demonstrated in the related myeloproliferative disorders of chronic myeloid leukemia and polycythemia vera...
- Molecular Mechanisms of the Hypoxic ResponseFrank Lee; Fiscal Year: 2006..We anticipate that the proposed studies will enlarge our understanding of both the molecular response to hypoxia and the role of a novel postranslational modification--proline hydroxylation. ..
- Howard-CNMC Sickle Cell Disease Clinical CenterVictor Gordeuk; Fiscal Year: 2008..A major feature of both sickle cell programs has always been continuity of care and participation in collaborative research. ..
- Pulmonary Hypertension and the Hypoxic Response in SCDVictor Gordeuk; Fiscal Year: 2008..PHTN is a complication of conditions marked by chronic hypoxia, and also a complication of Chuvash polycythemia (CP), a congenital disorder of oxygen sensing in which the hypoxic response is constitutively up regulated in ..
- High Throughput Screen for JAK2V617F Mutant Selective InhibitorsRoss Levine; Fiscal Year: 2008..JAK2V617F allele is present in the majority of patients with the myeloproliferative disorders (MPD) polycythemia vera (PV), essential thrombocytosis (ET), and primary myelofibrosis (PMF), and in vitro and in vivo data ..
- A Novel Regulator of Oxygen HomeostasisFrank Lee; Fiscal Year: 2009..We anticipate that these studies will define a new pathway by which cells respond to hypoxia. ..
- SEVERE MALARIAL ANEMIA AND ALTERED IMMUNE FUNCTIONVictor Gordeuk; Fiscal Year: 2004..The nutritional status, underlying parasitic infections, and genotypes and numbers of infecting P. falciparum strains will also be characterized. ..
- PATHOPHYSIOLOGY OF RENAL TUBULAR CELLSFrank Lee; Fiscal Year: 2002....
- Molecular Biology of PolycythemiaJosef Prchal; Fiscal Year: 2007..to examine the mechanisms of control of erythropoiesis concentrating on those that, when disturbed, result in polycythemia. We have described the disease entity of primary familial and congenital polycythemia (PFCP), which provides a ..
- HYPOXIA SENSING IN CHUVASH POLYCYTHEMIAJosef Prchal; Fiscal Year: 2003..of a congenital defect of this pathway that leads to a constitutive upregulation of the hypoxia sensing-Chuvash polycythemia (CP)...
- Molecular Pathogenesis of Polycythemia VeraALISON MOLITERNO; Fiscal Year: 2008..unreadable] [unreadable] The long-term objective of this research project is to define the molecular basis of polycythemia vera (PV)...
- Role of DEG/ENaC in the renal myogenic responseNIKKI JERNIGAN; Fiscal Year: 2005..abstract_text> ..
- Red Blood Cells, Nitric Oxide and Pulmonary CirculationSteven Deem; Fiscal Year: 2008..abstract_text> ..
- HYPOXIC PULMONARY VASOCANSTRICTION AND RED BLOOD CELLSSteven Deem; Fiscal Year: 2002....