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  5. Άρθρα σε επιστημονικά περιοδικά ( Ανοικτά)
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Please use this identifier to cite or link to this item: https://olympias.lib.uoi.gr/jspui/handle/123456789/16051
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dc.contributor.authorPapanikolaou, G.en
dc.contributor.authorChandrinou, H.en
dc.contributor.authorBouzas, E.en
dc.contributor.authorContopoulos-Ioannidis, D.en
dc.contributor.authorKalotychou, V.en
dc.contributor.authorPrentzas, K.en
dc.contributor.authorLilakos, K.en
dc.contributor.authorAsproudis, I.en
dc.contributor.authorPalaiologou, D.en
dc.contributor.authorPremetis, E.en
dc.contributor.authorPapassotiriou, I.en
dc.contributor.authorSakellaropoulos, N.en
dc.date.accessioned2015-11-24T18:27:34Z-
dc.date.available2015-11-24T18:27:34Z-
dc.identifier.issn1079-9796-
dc.identifier.urihttps://olympias.lib.uoi.gr/jspui/handle/123456789/16051-
dc.rightsDefault Licence-
dc.subjecthyperferritinemiaen
dc.subjectcataracten
dc.subjectgreeceen
dc.subjectireen
dc.subjectironen
dc.subjectiron overloaden
dc.subjectiron-responsive elementen
dc.subjectl-subunit geneen
dc.subjectserum ferritinen
dc.subjectmessenger-rnaen
dc.subjecthemochromatosisen
dc.subjectprevalenceen
dc.subjectlensen
dc.subjectidentificationen
dc.subjectpredictionen
dc.subjectoverloaden
dc.titleHereditary hyperferritinemia cataract syndrome in three unrelated families of western Greek origin caused by the C39 > G mutation of L-ferritin IREen
heal.typejournalArticle-
heal.type.enJournal articleen
heal.type.elΆρθρο Περιοδικούel
heal.identifier.primaryDOI 10.1016/j.bcmd.2005.10.003-
heal.identifier.secondary<Go to ISI>://000234880000006-
heal.identifier.secondaryhttp://ac.els-cdn.com/S1079979605001865/1-s2.0-S1079979605001865-main.pdf?_tid=8ef138e2d968bdfe0391eeac57ceb2a9&acdnat=1334231114_ef7ceeaa7009a5faf20a50986cb96fbb-
heal.languageen-
heal.accesscampus-
heal.recordProviderΠανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών και Τεχνολογιών. Τμήμα Βιολογικών Εφαρμογών και Τεχνολογιώνel
heal.publicationDate2006-
heal.abstractHereditary hyperferritinemia-cataract syndrome (HHCS) is a well-characterized autosomal dominant disease caused by mutations in the iron responsive element (IRE) of ferritin L-chain (FTL) mRNA. Mutations in the IRE result in reduced binding of the trans-acting iron regulatory proteins (IRPs) and hence in upregulation of ferritin L-chain synthesis. The disease is characterized by increased L-ferritin in serum and tissues and early onset of bilateral cataracts. Iron metabolism is normal, and there is no tissue iron overload. At least 25 nucleotide substitutions and deletions in the L-ferritin IRE have been described in families with HHCS, originating from diverse European, Australian and North American populations. We studied the molecular pathogenesis of HHCS in three unrelated kinderships of western Greek origin, with 19 affected members. We identified a relatively rare C39G mutation located in the hexanucleotide loop of L-ferritin IRE. Computational analysis of mRNA folding of mutant FTL IRE predicted that the C39 > G mutation leads to a rearrangement of base pairing in this critical region, which is likely to modify the IRP binding affinity. All subjects with HHCS were heterozygotes for the same C39G mutation. Clinical and laboratory phenotypes were described. Moreover, there was evidence of an association between this FTL IRE stem-loop mutation and very high ferritin levels. Our findings broaden the list of populations where HHCS has been described. (c) 2005 Elsevier Inc. All rights reserved.en
heal.journalNameBlood Cells Molecules and Diseasesen
heal.journalTypepeer reviewed-
heal.fullTextAvailabilityTRUE-
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