Linked Life Data

18809758

Source:http://linkedlifedata.com/resource/pubmed/id/18809758

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
12
pubmed:dateCreated
2008-11-25
pubmed:abstractText
Hepatic siderosis is common in patients with porphyria cutanea tarda (PCT). Mutations in the hereditary hemochromatosis (hh) gene (HFE) explain the siderosis in approximately 20% patients, suggesting that the remaining occurrences result from additional genetic and environmental factors. Two genes known to modify iron loading in hh are hepcidin (HAMP) and hemojuvelin (HJV). To determine if mutations in or expression of these genes influenced iron overload in PCT, we compared sequences of HAMP and HJV in 96 patients with PCT and 88 HFE C282Y homozygotes with marked hepatic iron overload. We also compared hepatic expression of these and other iron-related genes in a group of patients with PCT and hh. Two intronic polymorphisms in HJV were associated with elevated serum ferritin in HFE C282Y homozygotes. No exonic polymorphisms were identified. Sequencing of HAMP revealed exonic polymorphisms in 2 patients with PCT: heterozygosity for a G-->A transition (G71D substitution) in one and heterozygosity for an A-->G transition (K83R substitution) in the other. Hepatic HAMP expression in patients with PCT was significantly reduced, regardless of HFE genotype, when compared with patients with hh but without PCT with comparable iron overload. These data indicate that the hepatic siderosis associated with PCT likely results from dysregulated HAMP.
pubmed:grant
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-10205270, http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-10471457, http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-10688809, http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-11087882, http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-11128750, http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-11134514, http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-11226304, http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-11522755, http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-11719352, http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-11812557, http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-11875007, http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-12045153, http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-12076862, http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-12606179, http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-12632325, http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-12915468, http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-14498313, http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-14568258, http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-14633868, http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-14647275, http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-14752817, http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-15254010, http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-15349808, http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-15461631, http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-15528154, http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-15703559, http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-15710580, http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-15737887, http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-16141345, http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-16198621, http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-16433737, http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-16737972, http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-16979376, http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-17360334, http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-17515961, http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-17554070, http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-17710673, http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-17729390, http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-17763462, http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-18166355, http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-18166363, http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-18199861, http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-3030133, http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-865566, http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-8696333, http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-9024376, http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-9138148, http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-9207020, http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-9341868, http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-9425949, http://linkedlifedata.com/resource/pubmed/commentcorrection/18809758-9852416
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
1528-0020
pubmed:author
pubmed:issnType
Electronic
pubmed:day
1
pubmed:volume
112
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
4723-8
pubmed:dateRevised
2010-12-3
pubmed:meshHeading
More...