Endemic polycythemia in Russia: Mutation in the VHL gene

Blood Cells, Molecules, and Diseases

Volumn 28, Issue 1, 2002, Pages 57-62

  Ang, Sonny O ^a,c   Chen, Hua ^a,b   Gordeuk, Victor R ^d   Sergueeva, Adelina I ^e   Polyakova, Lydia A ^e   Miasnikova, Galina Y ^e   Kralovics, Robert ^a,b   Stockton, David W ^a,b   Prchal, Josef T ^a,b  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b VAH   (United States)

^c UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^d HOWARD UNIVERSITY   (United States)

^e CHUVASH STATE UNIVERSITY   (Russian Federation)

Author keywords

[No Author keywords available]

Indexed keywords

ERYTHROPOIETIN; ERYTHROPOIETIN RECEPTOR; GENE PRODUCT; HYPOXIA INDUCIBLE FACTOR 1ALPHA; UNCLASSIFIED DRUG; VON HIPPEL LINDAU PROTEIN; HIF1A PROTEIN, HUMAN; LIGASE; TRANSCRIPTION FACTOR; TUMOR SUPPRESSOR PROTEIN; UBIQUITIN PROTEIN LIGASE; VHL PROTEIN, HUMAN;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CHROMOSOME 11; CHROMOSOME 3; CLINICAL ARTICLE; CONTROLLED STUDY; ENDEMIC DISEASE; GENE CONTROL; GENE DISRUPTION; GENE LOCATION; GENE LOCUS; GENE MUTATION; GENE TARGETING; HOMEOSTASIS; HUMAN; POLYCYTHEMIA; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN TARGETING; RUSSIAN FEDERATION; BLOOD; FAMILY HEALTH; GENETIC LINKAGE; GENETICS; METABOLISM; NUCLEOTIDE SEQUENCE; PEDIGREE; PHYSIOLOGY; POINT MUTATION;

CHROMOSOMES, HUMAN, PAIR 3; DNA MUTATIONAL ANALYSIS; ENDEMIC DISEASES; ERYTHROPOIETIN; FAMILY HEALTH; HUMANS; HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; LIGASES; LINKAGE (GENETICS); PEDIGREE; POINT MUTATION; POLYCYTHEMIA; RUSSIA; TRANSCRIPTION FACTORS; TUMOR SUPPRESSOR PROTEINS; UBIQUITIN-PROTEIN LIGASES; VON HIPPEL-LINDAU TUMOR SUPPRESSOR PROTEIN;

EID: 0036111623     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1006/bcmd.2002.0488     Document Type: Article

References (18)

1. Congenital polycythemia in Chuvashia
2. Pathogenetic mechanisms of polycythemia vera and congenital polycythemic disorders
3. Role of the kidney in erythropoiesis. 1957
4. Insulin-like growth factor I plays a role in regulating erythropoiesis in patients with end-stage renal disease and erythrocytosis
5. HIF-1 and human disease: One highly involved factor
6. Expression of hypoxia-inducible factor 1: Mechanisms and consequences
7. 2 sensing
8. 2-regulated prolyl hydroxylation
9. C. elegans EGL-9 and mammalian homologs define a family of dioxygenases that regulate HIF by prolyl hydroxylation
10. The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis
11. Molecular pathogenesis of the von Hippel-Lindau hereditary cancer syndrome: Implications for oxygen sensing
12. Localization of the gene responsible for familial benign polycythemia to chromosome 11q23
13. A novel mutation found in the 3′ domain of NADH-cytochrome B5 reductase in an African-American family with type I congenital methemoglobinemia
14. Avoiding recomputation in linkage analysis
15. Chuvash polycythemia: An autosomal recessive disorder of dysregulated oxygen sensing
16. Chuvash polycythemia: An autosomal recessive disorder of oxygen sensing
17. Chuvash polycythemia: An autosomal recessive disorder of oxygen sensing