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- Iron_metabolism_disorder abstract "Genes involved in iron metabolism disorders include HFE and TFR2.Hepcidin is the master regulator of iron metabolism and, therefore, most genetic forms of iron overload can be thought of as relative hepcidin deficiency in one way or another. For instance, a severe form of iron overload, juvenile hemochromatosis, is a result of severe hepcidin deficiency. The majority of cases are caused by mutations in the hemojuvelin gene (HJV or RGMc/repulsive guidance molecule c). The exceptions, people who have mutations in the gene for ferroportin, prove the rule: these people have plenty of hepcidin, but their cells lack the proper response to it. So, in people with ferroportin proteins that transport iron out of cells without responding to hepcidin's signals to stop, they have a deficiency in the action of hepcidin, if not in hepcidin itself.But the exact mechanisms of most of the various forms of adult hemochromatosis, which make up most of the genetic iron overload disorders, remain unsolved. So while researchers have been able to identify genetic mutations causing several adult variants of hemochromatosis, they now must turn their attention to the normal function of these mutated genes.These genes represent multiple steps along the pathway of iron regulation, from the body's ability to sense iron, to the body's ability to regulate uptake and storage. Working out the functions of each gene in this pathway will be an important tool for finding new methods of treating genetic disorders, as well as for understanding the basic workings of the pathway.So though many mysteries of iron metabolism remain, the discovery of hepcidin already allows a much better understanding of the nature of iron regulation, and makes researchers optimistic that many more breakthroughs in this field are soon to come.".
- Iron_metabolism_disorder icd10 "E83.1".
- Iron_metabolism_disorder icd9 "275.0".
- Iron_metabolism_disorder meshId "D019189".
- Iron_metabolism_disorder wikiPageExternalLink pmidlookup?view=short&pmid=10607817&promo=ONFLNS19.
- Iron_metabolism_disorder wikiPageExternalLink menu_iron.html.
- Iron_metabolism_disorder wikiPageID "17364944".
- Iron_metabolism_disorder wikiPageLength "3126".
- Iron_metabolism_disorder wikiPageOutDegree "11".
- Iron_metabolism_disorder wikiPageRevisionID "707244121".
- Iron_metabolism_disorder wikiPageWikiLink Category:Iron_metabolism.
- Iron_metabolism_disorder wikiPageWikiLink HFE_(gene).
- Iron_metabolism_disorder wikiPageWikiLink Hemojuvelin.
- Iron_metabolism_disorder wikiPageWikiLink Hepcidin.
- Iron_metabolism_disorder wikiPageWikiLink Human_iron_metabolism.
- Iron_metabolism_disorder wikiPageWikiLink Iron-deficiency_anemia.
- Iron_metabolism_disorder wikiPageWikiLink Iron_overload.
- Iron_metabolism_disorder wikiPageWikiLink Master_regulator.
- Iron_metabolism_disorder wikiPageWikiLink The_New_England_Journal_of_Medicine.
- Iron_metabolism_disorder wikiPageWikiLink Transferrin_receptor_2.
- Iron_metabolism_disorder wikiPageWikiLinkText "Iron metabolism disorder".
- Iron_metabolism_disorder icd "275".
- Iron_metabolism_disorder icd "E83.1".
- Iron_metabolism_disorder meshid "D019189".
- Iron_metabolism_disorder name "Iron metabolism disorder".
- Iron_metabolism_disorder wikiPageUsesTemplate Template:Cite_journal.
- Iron_metabolism_disorder wikiPageUsesTemplate Template:Inborn_errors_of_metal_metabolism.
- Iron_metabolism_disorder wikiPageUsesTemplate Template:Infobox_disease.
- Iron_metabolism_disorder wikiPageUsesTemplate Template:Ref.
- Iron_metabolism_disorder wikiPageUsesTemplate Template:Reflist.
- Iron_metabolism_disorder subject Category:Iron_metabolism.
- Iron_metabolism_disorder hypernym Regulator.
- Iron_metabolism_disorder type Disease.
- Iron_metabolism_disorder type GovernmentAgency.
- Iron_metabolism_disorder type Thing.
- Iron_metabolism_disorder type Q12136.
- Iron_metabolism_disorder comment "Genes involved in iron metabolism disorders include HFE and TFR2.Hepcidin is the master regulator of iron metabolism and, therefore, most genetic forms of iron overload can be thought of as relative hepcidin deficiency in one way or another. For instance, a severe form of iron overload, juvenile hemochromatosis, is a result of severe hepcidin deficiency. The majority of cases are caused by mutations in the hemojuvelin gene (HJV or RGMc/repulsive guidance molecule c).".
- Iron_metabolism_disorder label "Iron metabolism disorder".
- Iron_metabolism_disorder sameAs Q6072985.
- Iron_metabolism_disorder sameAs m.0466rm8.
- Iron_metabolism_disorder sameAs Q6072985.
- Iron_metabolism_disorder wasDerivedFrom Iron_metabolism_disorder?oldid=707244121.
- Iron_metabolism_disorder isPrimaryTopicOf Iron_metabolism_disorder.
- Iron_metabolism_disorder name "Iron metabolism disorder".