1,721,122 research outputs found
Molecular genetics and control of iron metabolism in hemochromatosis
Full text linkBackground and Objectives. Hereditary hemochromatosis (HC) is an inborn error of iron metabolism that leads to progressive iron overload. Considerable advances in the knowledge of molecular events in iron metabolism have been recently obtained. These molecular findings, the cloning of the gene responsible for HC (HFE gene) and the results of preliminary studies on the HFE protein prompted us to review this topic. information Sources. The material examined in this review article includes papers and abstracts published in the Journals covered by the Science Citation Index(C) and Medline(C). The authors have been working in the field of HC for several years and have contributed eleven of the quoted papers. State of Art and Perspective. HC is now recognized as the genetic disease characterized by the homozygosity for the Cys --> Tyr substitution at position 282 (C282Y) of the HFE protein. The mutation abolishes the association of the HFE protein with beta(2)-microglobulin (beta(2)M), making the complex unable to gain the cell surface. Thus HC is an example of abnormal trafficking of the corresponding proteins. It Is clear by the analysis of its structure that HFE protein is not an iron transporter itself, but has a regulatory role in iron metabolism. Its peculiar localization in the crypt cells of the small intestine suggests an important role in iron trafficking at this level. However, other proteins are involved in iron uptake, as the recently cloned Nramp2, the first iron transporter discovered in mammalians. Nramp2 has a recognized role both in the intestinal iron uptake and in the iron transport within the erythroblast. The relationships between HFE and Nramp2 are still unexplored. The recent association of HFE gene with transferrin receptor (TfR) in trophoblast cells opens new possibilities on its role in cellular iron uptake. The existence of other forms of genetic iron overload suggests that the scenario of iron proteins is not yet fully defined. Further studies in this field will contribute to our knowledge of iron metabolism regulation in humans. (C)1998, Ferrata Storti Foundation
Analysis of the hepcidin mutant R59G, which causes an adult-onset type of hemochromatosis
No full textMolecular pathology of inherited erythrocyte membrane disorders: hereditary spherocytosis and elliptocytosis
No full textA novel R416C mutation in human DMT1 (SLC11A2) displays pleiotropic effects on function and causes microcytic anemia and hepatic iron overload
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A spontaneous mutation causing unstable Hb Hammersmith: detection of the beta 42 TTT----TCT change by CCM and direct sequencing
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Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
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