H63d Mutation
Mostrando 1-12 de 26 artigos, teses e dissertações.
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1. Ancestral association between HLA and HFE H63D and C282Y gene mutations from northwest Colombia
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 assoc
Genet. Mol. Biol.. Publicado em: 2015-03
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2. Porfiria cutânea tardia com mutações do gene da hemocromatose C282Y e H63D e análise retrospectiva do perfil de ferro em relação ao tratamento: estudo de 60 casos / Porphyria cutanea tarda with hemochromatosis gene mutations C282Y and H63D and retrospective analysis of the iron profile in relation to treatment: study of 60 cases
Background: Porphyria cutanea tarda (PCT) is the most common form of porphyria and is characterized by the decreased activity of the uroporphyrinogen decarboxylase enzyme. Several reports associated HFE gene mutations of hereditary hemochromatosis with PCT worldwide, although up to date only one study has been conducted in Brazil. Objective: Study the associ
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 24/10/2012
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3. HFE gene mutations and iron status of Brazilian blood donors
Mutations of the HFE and TFR2 genes have been associated with iron overload. HFE and TFR2 mutations were assessed in blood donors, and the relationship with iron status was evaluated. Subjects (N = 542) were recruited at the Hemocentro da Santa Casa de São Paulo, São Paulo, Brazil. Iron status was not influenced by HFE mutations in women and was independen
Brazilian Journal of Medical and Biological Research. Publicado em: 2010-01
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4. Analysis of HFE and non-HFE gene mutations in Brazilian patients with hemochromatosis
BACKGROUND: Approximately one-half of Brazilian patients with hereditary hemochromatosis (HH) are neither homozygous for the C282Y mutation nor compound heterozygous for the H63D and C282Y mutations that are associated with HH in Caucasians. Other mutations have been described in the HFE gene as well as in genes involved in iron metabolism, such as transferr
Clinics. Publicado em: 2009
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5. Avaliação hemostática e molecular em mulheres com câncer de mama receptor hormonal negativo
The breast cancer is the most common cause of death in women by malignant disease. The mechanisms related to recurrence are unclear, especially the hemostatic alterations that occur during the development of the disease and seem to be related to its aggressiveness. The study had as aim to assess in women with hormone negative receptor breast cancer, in a 24
Publicado em: 2009
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6. Simultaneous detection of the C282Y, H63D and S65C mutations in the hemochromatosis gene using quenched-FRET real-time PCR
Hereditary hemochromatosis (HH) is a common autosomal disorder of iron metabolism mainly affecting Caucasian populations. Three recurrent disease-associated mutations have been detected in the hemochromatosis gene (HFE): C282Y, H63D, and S65C. Although HH phenotype has been associated with all three mutations, C282Y is considered the most relevant mutation r
Brazilian Journal of Medical and Biological Research. Publicado em: 30/09/2008
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7. Análise das mutações C282Y e H63D no gene da proteína HFE em pacientes com hiperferritinemia
A hemocromatose hereditária (HH) é uma doença genética causada pela absorção e deposição elevada de ferro em vários órgãos. Este acúmulo resulta em complicações clínicas como cirrose, artrite, cardiopatias, diabetes, desordens sexuais e escurecimento da pele. As mutações H63D e C282Y estão bem definidas na etiologia da hemocromatose. O obje
Publicado em: 2007
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8. HFE gene mutations in Brazilian thalassemic patients
Hereditary hemochromatosis is a disorder of iron metabolism characterized by increased iron intake and progressive storage and is related to mutations in the HFE gene. Interactions between thalassemia and hemochromatosis may further increase iron overload. The ethnic background of the Brazilian population is heterogeneous and studies analyzing the simultaneo
Brazilian Journal of Medical and Biological Research. Publicado em: 13/11/2006
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9. Hemochromatosis (HFE) gene mutations in Brazilian chronic hemodialysis patients
Patients with chronic renal insufficiency (CRI) have reduced hemoglobin levels, mostly as a result of decreased kidney production of erythropoietin, but the relation between renal insufficiency and the magnitude of hemoglobin reduction has not been well defined. Hereditary hemochromatosis is an inherited disorder of iron metabolism. The importance of the ass
Brazilian Journal of Medical and Biological Research. Publicado em: 2005-09
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10. Analysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazilian patients with hemochromatosis
The hemochromatosis gene, HFE, is located on chromosome 6 in close proximity to the HLA-A locus. Most Caucasian patients with hereditary hemochromatosis (HH) are homozygous for HLA-A3 and for the C282Y mutation of the HFE gene, while a minority are compound heterozygotes for C282Y and H63D. The prevalence of these mutations in non-Caucasian patients with HH
Brazilian Journal of Medical and Biological Research. Publicado em: 2002-03
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11. Esteato-hepatite não alcoólica: avaliação clínica, laboratorial, histopatológica e pesquisa de mutações do gene HFE: casuística de um centro de referência / Non-alcoholic steatohepatitis: clinical, laboratory, histopathologic evaluation and search for mutations in the HFE gene: casuistic from a reference center.
Non-alcoholic steatohepatitis (NASH) consists of steatosis and hepatic lobular inflammation in non-alcoholic individuals. It occurs in association to obesity, hyperlipidemia, diabetes mellitus, female sex, drug therapy and jejunoileal bypass. Recently, iron overload, secondary to mutations in the HFE gene in hereditary hemochromatosis has also been evidenced
Publicado em: 2000
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12. Contribution of the H63D mutation in HFE to murine hereditary hemochromatosis
Hereditary hemochromatosis (HH) is an autosomal recessive disease characterized by iron accumulation in several organs, followed by organ damage and failure. The C282Y mutation in the HFE gene explains 80-90% of all diagnosed cases of HH in populations of northwestern European ancestry. Targeted disruption of the mouse Hfe gene (or introduction of the murine
National Academy of Sciences.