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Human Mutation, ISSN 1059-7794, 01/2014, Volume 35, Issue 1, pp. 15 - 26
Journal Article
American Journal of Hematology, ISSN 0361-8609, 08/2018, Volume 93, Issue 8, pp. 1029 - 1041
Hereditary erythrocytosis is associated with high oxygen affinity hemoglobin variants (HOAs), 2,3‐bisphosphoglycerate deficiency and abnormalities in EPOR and... 
BISPHOSPHOGLYCERATE MUTASE DEFICIENCY | VHL GENE | GERMLINE MUTATION | CONGENITAL ERYTHROCYTOSIS | COMPOUND HETEROZYGOSITY | HIPPEL-LINDAU-DISEASE | HB-JOHNSTOWN | FAMILIAL ERYTHROCYTOSIS | HEMATOLOGY | OXYGEN-AFFINITY VARIANT | HEMOGLOBIN-VARIANTS | Polycythemia | Genetic aspects | Headache | Hemoglobinopathy | Phenotypes | Oxygen | Laboratories | Dyspnea | Pain | Hemoglobin | VHL protein | Mutation | Respiration | Genotypes
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 06/2013, Volume 288, Issue 24, pp. 17134 - 17144
The central pathway for oxygen-dependent control of red cell mass is the prolyl hydroxylase domain protein (PHD):hypoxia inducible factor (HIF) pathway. PHD... 
ERYTHROPOIETIN | BIOCHEMISTRY & MOLECULAR BIOLOGY | ARTERIAL-HYPERTENSION | ENDOTHELIAL-CELLS | IN-VIVO | FAMILIAL ERYTHROCYTOSIS | CHUVASH POLYCYTHEMIA | MICE | OXYGEN HOMEOSTASIS | HYPOXIA | LINDAU TUMOR-SUPPRESSOR | Erythropoiesis | Polycythemia - genetics | Up-Regulation | Humans | Hypertension, Pulmonary - physiopathology | Polycythemia - blood | Hypertension, Pulmonary - blood | Mutation, Missense | RNA, Messenger - metabolism | Erythropoietin - blood | Hypertrophy, Right Ventricular - physiopathology | Kidney - metabolism | Basic Helix-Loop-Helix Transcription Factors - metabolism | Hypertrophy, Right Ventricular - blood | Lung - metabolism | Hypertrophy, Right Ventricular - genetics | Disease Models, Animal | Gene Expression | Lung - pathology | Basic Helix-Loop-Helix Transcription Factors - genetics | Proto-Oncogene Proteins c-sis - genetics | Respiratory Rate | Genetic Association Studies | Proto-Oncogene Proteins c-sis - metabolism | Endothelin-1 - genetics | Endothelin-1 - metabolism | Mice, Inbred C57BL | RNA, Messenger - genetics | Blood Gas Analysis | Cells, Cultured | Vascular Endothelial Growth Factor A - blood | Hypertension, Pulmonary - genetics | Lung - physiopathology | Gene Knock-In Techniques | Erythropoietin - genetics | Animals | Mutagenesis | Mice | Polycythemia - physiopathology | Index Medicus | Molecular Bases of Disease | Hypoxia | Hypoxia-inducible Factor (HIF) | Erythropoietin | Mouse | Hypoxia Inducible Factor
Journal Article
Haematologica, ISSN 0390-6078, 03/2018, Volume 103, Issue 4, pp. 575 - 586
Primary familial and congenital polycythemia is characterized by erythropoietin hypersensitivity of erythroid progenitors due to germline nonsense or... 
POINT MUTATION | CONGENITAL ERYTHROCYTOSIS | GENE | JUXTAMEMBRANE | PRIMARY FAMILIAL POLYCYTHEMIA | INCREASED SENSITIVITY | TRANSMEMBRANE DOMAIN | SHORT DELETION | JAK2 | HEMATOLOGY | EPO RECEPTOR | Index Medicus
Journal Article
American Journal of Hematology, ISSN 0361-8609, 04/2012, Volume 87, Issue 4, pp. 439 - 442
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 04/2009, Volume 284, Issue 14, pp. 9050 - 9058
A classic physiologic response to hypoxia in humans is the up-regulation of the ERYTHROPOIETIN (EPO) gene, which is the central regulator of red blood cell... 
PHD2 | DOMAIN PROTEIN-2 | HYPOXIA-INDUCIBLE FACTOR-1-ALPHA | HIF2A GENE | BIOCHEMISTRY & MOLECULAR BIOLOGY | HYDROXYLATION | TUMOR-SUPPRESSOR GENE | FAMILIAL ERYTHROCYTOSIS | HIF-1-ALPHA | CONGENITAL POLYCYTHEMIA | OXYGEN HOMEOSTASIS | Mechanisms of Signal Transduction
Journal Article
Hematology, ISSN 1024-5332, 11/2016, Volume 21, Issue 10, pp. 619 - 622
Objectives: In the last decade the identification of germline mutations in several genes such as EPOR, VHL, EGLN1, and EPAS1, helped the definition of several... 
Mutation | HIF2A | EPAS1 | Familial (congenital) erythrocytosis | HIF2A GENE | PATHWAY | HYPERTENSION | HEMATOLOGY | GAIN | Erythrocyte Volume | Polycythemia - genetics | Basic Helix-Loop-Helix Transcription Factors - genetics | Pedigree | Humans | Germ-Line Mutation | Polycythemia - blood | Adult | Female | Male | Bulgaria | Polycythemia - congenital | Index Medicus
Journal Article
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 10/2012, Volume 287, Issue 44, pp. 36720 - 36731
During erythropoiesis, erythropoietin stimulates induction of erythroid transcription factors that activate expression of erythroid genes including the... 
TRANSCRIPTION FACTOR GATA-1 | HEMATOPOIETIC DEVELOPMENT | POLYCYTHEMIA-VERA | BIOCHEMISTRY & MOLECULAR BIOLOGY | ACUTE LYMPHOBLASTIC-LEUKEMIA | ERYTHROID-CELLS | GENE-EXPRESSION | POSITIVE ROLE | FAMILIAL ERYTHROCYTOSIS | OXYGEN HOMEOSTASIS | CHROMATIN OCCUPANCY | Polycythemia - genetics | Cell Proliferation | Luciferases, Renilla - genetics | Humans | Male | Mutation, Missense | Case-Control Studies | Luciferases, Renilla - biosynthesis | Receptors, Erythropoietin - genetics | Antigens, CD - metabolism | Basic Helix-Loop-Helix Transcription Factors - metabolism | DNA Mutational Analysis | Kruppel-Like Transcription Factors - metabolism | Adult | Cell Differentiation | Polycythemia - pathology | Binding Sites | GATA2 Transcription Factor - genetics | Genes, Reporter | T-Cell Acute Lymphocytic Leukemia Protein 1 | Proto-Oncogene Proteins - metabolism | Promoter Regions, Genetic | Gene Expression | Cells, Cultured | Erythroid Cells - metabolism | Gene Expression Regulation | Janus Kinase 2 - genetics | Hematopoietic Stem Cells - metabolism | Erythropoietin - physiology | GATA1 Transcription Factor - metabolism | beta-Globins - genetics | beta-Globins - metabolism | GATA1 Transcription Factor - genetics | GATA2 Transcription Factor - metabolism | Polycythemia - metabolism | Protein Binding | Receptors, Erythropoietin - metabolism | Kruppel-Like Transcription Factors - genetics | Index Medicus | Molecular Bases of Disease | Transcription Regulation | Erythropoeisis | Erythropoietin | Excessive Erythrocytosis | Hematopoiesis | TAL1 | Transcription Factors
Journal Article
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, ISSN 0390-6078, 07/2008, Volume 93, Issue 7, pp. 1068 - 1071
HIF2A transcription factor plays a central role in the regulation of the hypoxia responding pathway in mammalian cells, by modulating erythropoiesis and... 
HYDROXYLASE DOMAIN PROTEIN-2 | MYELOPROLIFERATIVE DISEASES | ERYTHROPOIETIN | HOMEOSTASIS | PHD2 | GENE | familial erythrocytosis | CHILDHOOD POLYCYTHEMIA-VERA | HIF2A | ESSENTIAL THROMBOCYTHEMIA | HEMATOLOGY
Journal Article