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Titolo:
Genetic hemochromatosis - from molecular genetics to the clinical diagnosis
Autore:
Hohler, T; Gerken, G;
Indirizzi:
Univ Mainz, Med Klin & Poliklin 1, D-55101 Mainz, Germany Univ Mainz Mainz Germany D-55101 in & Poliklin 1, D-55101 Mainz, Germany Univ Essen Gesamthsch, Med Klin & Poliklin, Gastroenterol Abt, D-45147 Essen, Germany Univ Essen Gesamthsch Essen Germany D-45147 Abt, D-45147 Essen, Germany
Titolo Testata:
ZEITSCHRIFT FUR GASTROENTEROLOGIE
fascicolo: 6, volume: 38, anno: 2000,
pagine: 509 - 515
SICI:
0044-2771(200006)38:6<509:GH-FMG>2.0.ZU;2-Z
Fonte:
ISI
Lingua:
GER
Soggetto:
PORPHYRIA-CUTANEA-TARDA; CHRONIC HEPATITIS-C; CHRONIC VIRAL-HEPATITIS; HEREDITARY HEMOCHROMATOSIS; TRANSFERRIN RECEPTOR; C282Y MUTATION; HFE MUTATIONS; HLA-H; NONALCOHOLIC STEATOHEPATITIS; IRON CONCENTRATION;
Keywords:
genetic hemochromatosis; HFE; genetic testing; heterozygosity;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
45
Recensione:
Indirizzi per estratti:
Indirizzo: Hohler, T Univ Klin Mainz, Med Klin & Poliklin, Langenbeckstr 1, D-55101 Mainz, Germany Univ Klin Mainz Langenbeckstr 1 Mainz Germany D-55101 , Germany
Citazione:
T. Hohler e G. Gerken, "Genetic hemochromatosis - from molecular genetics to the clinical diagnosis", Z GASTROENT, 38(6), 2000, pp. 509-515

Abstract

More than 90% of patients with genetic hemochromatosis carry a characteristic mutation in the HFE-gene (C282Y). HFE modulates the iron uptake by the transferrin receptor. Duodenal crypt cells of HFE-knockout mice show low intracellular iron concentrations which lead to an upregulation of the divalent metal transporter and enhanced iron uptake by duodenal enterocytes. Heterocygosity for the C282Y mutation appears to alter the course of other liver diseases like porphyria cutanea tarda and nonalcoholic steatohepatitis.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 13/07/20 alle ore 18:01:25