| pubmed-article:9292547 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:9292547 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
| pubmed-article:9292547 | lifeskim:mentions | umls-concept:C0015879 | lld:lifeskim |
| pubmed-article:9292547 | lifeskim:mentions | umls-concept:C0302583 | lld:lifeskim |
| pubmed-article:9292547 | lifeskim:mentions | umls-concept:C1314792 | lld:lifeskim |
| pubmed-article:9292547 | lifeskim:mentions | umls-concept:C1833213 | lld:lifeskim |
| pubmed-article:9292547 | lifeskim:mentions | umls-concept:C1442161 | lld:lifeskim |
| pubmed-article:9292547 | lifeskim:mentions | umls-concept:C0013879 | lld:lifeskim |
| pubmed-article:9292547 | lifeskim:mentions | umls-concept:C1709450 | lld:lifeskim |
| pubmed-article:9292547 | pubmed:issue | 5 | lld:pubmed |
| pubmed-article:9292547 | pubmed:dateCreated | 1997-9-30 | lld:pubmed |
| pubmed-article:9292547 | pubmed:abstractText | Iron availability regulates ferritin synthesis posttranscriptionally by the interaction between iron-regulatory proteins (IRPs) and an iron responsive element (IRE), a stem-loop sequence located on the 5' untranslated region of ferritin mRNA. IRPs recognize IREs as a sequence/structure motif, blocking ferritin translation. Recently, we and others independently described families with a combination of hyperferritinemia (serum L-ferritin > or = 1,000 microg/L, without iron overload) and congenital bilateral cataract, transmitted as an autosomal-dominant trait. The molecular basis were two distinct point mutations in the highly conserved CAGUG(X) hexaloop of L-ferritin IRE on chromosome 19. A new three-generation family with a similar phenotype and a unique genotype is here reported. DNA amplification by polymerase chain reaction and sequence analysis showed a 29-base pair deletion in the L-ferritin IRE, involving the whole 5' sequence essential to the base pairing of the IRE stem. This deletion is predicted to cause the disruption of IRE stem-loop secondary structure and the nearly complete abolition of the negative control of ferritin synthesis by IRE/IRP binding. Hereditary Hyperferritinemia-Cataract Syndrome (HHCS) appears as a new genetic disorder with a unique phenotype associated with at least four different mutations in the L-ferritin IRE. Hematologists should take into account HHCS in the differential diagnosis of unexplained hyperferritinemia. | lld:pubmed |
| pubmed-article:9292547 | pubmed:language | eng | lld:pubmed |
| pubmed-article:9292547 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9292547 | pubmed:citationSubset | AIM | lld:pubmed |
| pubmed-article:9292547 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9292547 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9292547 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:9292547 | pubmed:month | Sep | lld:pubmed |
| pubmed-article:9292547 | pubmed:issn | 0006-4971 | lld:pubmed |
| pubmed-article:9292547 | pubmed:author | pubmed-author:CorrocherRR | lld:pubmed |
| pubmed-article:9292547 | pubmed:author | pubmed-author:GaspariniPP | lld:pubmed |
| pubmed-article:9292547 | pubmed:author | pubmed-author:OlivieriOO | lld:pubmed |
| pubmed-article:9292547 | pubmed:author | pubmed-author:GirelliDD | lld:pubmed |
| pubmed-article:9292547 | pubmed:author | pubmed-author:ZelanteLL | lld:pubmed |
| pubmed-article:9292547 | pubmed:author | pubmed-author:PanozzoGG | lld:pubmed |
| pubmed-article:9292547 | pubmed:author | pubmed-author:BiscegliaLL | lld:pubmed |
| pubmed-article:9292547 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:9292547 | pubmed:day | 1 | lld:pubmed |
| pubmed-article:9292547 | pubmed:volume | 90 | lld:pubmed |
| pubmed-article:9292547 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:9292547 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:9292547 | pubmed:pagination | 2084-8 | lld:pubmed |
| pubmed-article:9292547 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
| pubmed-article:9292547 | pubmed:meshHeading | pubmed-meshheading:9292547-... | lld:pubmed |
| pubmed-article:9292547 | pubmed:meshHeading | pubmed-meshheading:9292547-... | lld:pubmed |
| pubmed-article:9292547 | pubmed:meshHeading | pubmed-meshheading:9292547-... | lld:pubmed |
| pubmed-article:9292547 | pubmed:meshHeading | pubmed-meshheading:9292547-... | lld:pubmed |
| pubmed-article:9292547 | pubmed:meshHeading | pubmed-meshheading:9292547-... | lld:pubmed |
| pubmed-article:9292547 | pubmed:meshHeading | pubmed-meshheading:9292547-... | lld:pubmed |
| pubmed-article:9292547 | pubmed:meshHeading | pubmed-meshheading:9292547-... | lld:pubmed |
| pubmed-article:9292547 | pubmed:meshHeading | pubmed-meshheading:9292547-... | lld:pubmed |
| pubmed-article:9292547 | pubmed:meshHeading | pubmed-meshheading:9292547-... | lld:pubmed |
| pubmed-article:9292547 | pubmed:meshHeading | pubmed-meshheading:9292547-... | lld:pubmed |
| pubmed-article:9292547 | pubmed:meshHeading | pubmed-meshheading:9292547-... | lld:pubmed |
| pubmed-article:9292547 | pubmed:meshHeading | pubmed-meshheading:9292547-... | lld:pubmed |
| pubmed-article:9292547 | pubmed:meshHeading | pubmed-meshheading:9292547-... | lld:pubmed |
| pubmed-article:9292547 | pubmed:meshHeading | pubmed-meshheading:9292547-... | lld:pubmed |
| pubmed-article:9292547 | pubmed:meshHeading | pubmed-meshheading:9292547-... | lld:pubmed |
| pubmed-article:9292547 | pubmed:year | 1997 | lld:pubmed |
| pubmed-article:9292547 | pubmed:articleTitle | Hereditary hyperferritinemia-cataract syndrome caused by a 29-base pair deletion in the iron responsive element of ferritin L-subunit gene. | lld:pubmed |
| pubmed-article:9292547 | pubmed:affiliation | Institute of Medical Pathology, University of Verona, Italy. | lld:pubmed |
| pubmed-article:9292547 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:9292547 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:2512 | entrezgene:pubmed | pubmed-article:9292547 | lld:entrezgene |
| entrez-gene:29292 | entrezgene:pubmed | pubmed-article:9292547 | lld:entrezgene |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:9292547 | lld:pubmed |
