A study of genes that may modulate the expression of hereditary hemochromatosis: Transferrin receptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains, iron regulatory proteins (IRP)-1 and -2, and hepcidin

Blood Cells, Molecules, and Diseases

Volumn 27, Issue 5, 2001, Pages 783-802

  Lee, Pauline L ^a   Gelbart, Terri ^a   West, Carol ^a   Halloran, Carol ^a   Felitti, Vincent ^b   Beutler, Ernest ^a  

^a SCRIPPS RESEARCH INSTITUTE   (United States)

^b KAISER PERMANENTE   (United States)

Author keywords

Ceruloplasmin; Ferritin; Ferroportin; Hemochromatosis; Hepcidin; Iron; Iron regulatory protein; Polymorphism; Transferrin receptor

Indexed keywords

CERULOPLASMIN; FERRITIN; FERRITIN HEAVY CHAIN; FERRITIN LIGHT CHAIN; FERROPORTIN; GENE PRODUCT; HEPCIDIN; IRON; IRON BINDING PROTEIN; IRON DERIVATIVE; IRON REGULATORY FACTOR; IRON REGULATORY PROTEIN 1; IRON REGULATORY PROTEIN 2; REGULATOR PROTEIN; TRANSFERRIN RECEPTOR; UNCLASSIFIED DRUG; ANTIMICROBIAL CATIONIC PEPTIDE; CATION TRANSPORT PROTEIN; METAL TRANSPORTING PROTEIN 1; PROTEIN SUBUNIT; TRANSFERRIN;

ARTICLE; ASIAN AMERICAN; CONTROLLED STUDY; DNA FLANKING REGION; FEMALE; GENE EXPRESSION REGULATION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC POLYMORPHISM; GENOTYPE; HEMOCHROMATOSIS; HFE GENE; HUMAN; IRON METABOLISM; IRON OVERLOAD; MAJOR GENE; MALE; NEGRO; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN BLOOD LEVEL; PROTEIN EXPRESSION; RACE DIFFERENCE; BLOOD; DNA SEQUENCE; FAMILY HEALTH; GENE FREQUENCY; GENETIC PREDISPOSITION; GENETICS; MUTATION; RACE; SEX DIFFERENCE;

ANTIMICROBIAL CATIONIC PEPTIDES; CATION TRANSPORT PROTEINS; CERULOPLASMIN; FAMILY HEALTH; FEMALE; FERRITIN; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HEMOCHROMATOSIS; HUMAN; IRON-REGULATORY PROTEINS; MALE; MUTATION; PROMOTER REGIONS (GENETICS); PROTEIN SUBUNITS; RACIAL STOCKS; READING FRAMES; RECEPTORS, TRANSFERRIN; SEQUENCE ANALYSIS, DNA; SEX FACTORS; TRANSFERRIN;

EID: 0035206994     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1006/bcmd.2001.0445     Document Type: Article

References (20)

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3. Haemochromatosis gene C282Y homozygotes in an elderly male population
4. Incidence of liver disease in people with HFE mutations
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6. New mutations inactivating transferrin receptor 2 in hemochromatosis type 3
7. Mutation analysis of the transferrin receptor-2 gene in patients with iron overload
8. Transferrin receptor-2 (TFR2) mutation Y250X in Alabama Caucasian and African American subjects with and without primary iron overload
9. Transferrin receptor-2 gene and non-C282Y homozygous patients with hemochromatosis
10. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
11. A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload
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13. Targeted deletion of the gene encoding iron regulatory protein-2 causes misregulation of iron metabolism and neurodegenerative disease in mice
14. Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice
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