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Lack of evidence for the pathogenic role of iron and HFE gene mutations in Brazilian patients with nonalcoholic steatohepatitis BJMBR
Deguti,M.M.; Sipahi,A.M.; Gayotto,L.C.C.; Palácios,S.A.; Bittencourt,P.L.; Goldberg,A.C.; Laudanna,A.A.; Carrilho,F.J.; Cançado,E.L.R..
The hypothesis of the role of iron overload associated with HFE gene mutations in the pathogenesis of nonalcoholic steatohepatitis (NASH) has been raised in recent years. In the present study, biochemical and histopathological evidence of iron overload and HFE mutations was investigated in NASH patients. Thirty-two NASH patients, 19 females (59%), average 49.2 years, 72% Caucasians, 12% Mulattoes and 12% Asians, were submitted to serum aminotransferase and iron profile determinations. Liver biopsies were analyzed for necroinflammatory activity, architectural damage and iron deposition. In 31 of the patients, C282Y and H63D mutations were tested by PCR-RFLP. Alanine aminotransferase levels were increased in 30 patients, 2.42 ± 1.12 times the upper normal...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Fatty liver; Nonalcoholic steatohepatitis; Iron overload; HFE gene; Alanine aminotransferase.
Ano: 2003 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2003000600009
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HFE gene mutations in coronary atherothrombotic disease BJMBR
Calado,R.T.; Franco,R.F.; Pazin-Filho,A.; Simões,M.V.; Marin-Neto,J.A.; Zago,M.A..
Although iron can catalyze the production of free radicals involved in LDL lipid peroxidation, the contribution of iron overload to atherosclerosis remains controversial. The description of two mutations in the HFE gene (Cys282Tyr and His63Asp) related to hereditary hemochromatosis provides an opportunity to address the question of the association between iron overload and atherosclerosis. We investigated the prevalence of HFE mutations in 160 survivors of myocardial infarction with angiographically demonstrated severe coronary atherosclerotic disease, and in 160 age-, gender- and race-matched healthy control subjects. PCR amplification of genomic DNA followed by RsaI and BclI restriction enzyme digestion was used to determine the genotypes. The frequency...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Hemochromatosis; HFE gene; Atherosclerosis; Myocardial infarction; Risk factor.
Ano: 2000 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2000000300007
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Ancestral association between HLA and HFE H63D and C282Y gene mutations from northwest Colombia Genet. Mol. Biol.
Rodriguez,Libia M; Giraldo,Mabel C; Velasquez,Laura I; Alvarez,Cristiam M; Garcia,Luis F; Jimenez-Del-Rio,Marlene; Velez-Pardo,Carlos.
A significant association between HFE gene mutations and the HLA-A*03-B*07 and HLA-A*29-B*44 haplotypes has been reported in the Spanish population. It has been proposed that these mutations are probably connected with Celtic and North African ancestry, respectively. We aimed to find the possible ancestral association between HLA alleles and haplotypes associated with the HFE gene (C282Y and H63D) mutations in 214 subjects from Antioquia, Colombia. These were 18 individuals with presumed hereditary hemochromatosis (“HH”) and 196 controls. The HLA-B*07 allele was in linkage disequilibrium (LD) with C282Y, while HLA-A*23, A*29, HLA-B*44, and B*49 were in LD with H63D. Altogether, our results show that, although the H63D mutation is more common in the...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Hereditary hemochromatosis; HLA class I genes; HFE gene; H63D; C282Y.
Ano: 2015 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000100008
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