C282y
Mostrando 1-12 de 74 artigos, teses e dissertações.
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1. Hereditary hemochromatosis beyond hyperferritinemia: Clinical and laboratory investigation of the patient’s profile submitted to phlebotomy in two reference centers in southern Brazil
Abstract Hereditary Hemochromatosis is a disorder characterized by iron deposition in several organs and hyperferritinemia. The most studied variants are linked to the HFE gene. In Brazil, surveys that characterize this population are scarce, with no sampling in the state of Rio Grande do Sul. Our objective is to carry out a data collection focusing on the p
Genetics and Molecular Biology. Publicado em: 2023
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2. HFE hemochromatosis: an overview about therapeutic recommendations
Abstract Hemochromatosis is currently characterized by the iron overload caused by hepcidin deficiency. Large advances in the knowledge on the hemochromatosis pathophysiology have occurred due to a better understanding of the protein of the iron metabolism, the genetic basis of hemochromatosis and of other iron overload diseases or conditions which can lead
Hematology, Transfusion and Cell Therapy. Publicado em: 2022
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3. Hepcidin is a useful biomarker to evaluate hyperferritinemia associated with metabolic syndrome
Abstract: Investigation of hyperferritinemia in metabolic syndrome patients represents a diagnostic challenge, but it is essential for the identification of individuals with iron overload. Hepcidin negatively regulates iron absorption and release. An increase in hepcidin occurs when iron levels are sufficient or in inflammatory states, conditions often assoc
An. Acad. Bras. Ciênc.. Publicado em: 13/05/2019
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4. Hemocromatose hereditária: estudo de alterações laboratoriais relacionadas com polimorfismos
RESUMO Introdução: A hemocromatose hereditária (HH) é uma doença hereditária associada ao armazenamento em excesso de ferro. Sua forte presença é subestimada por ser assintomática nos pacientes. Na cidade de Caxias do Sul (RS), por conta da maior frequência da doença, é necessário realizar um estudo que relaciona os genótipos HH com as anális
J. Bras. Patol. Med. Lab.. Publicado em: 2017-08
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5. Prevalência das mutações C282Y e H63D no gene HFEem pacientes de São Paulo e do Sul do Brasil
RESUMO A hemocromatose hereditária (HH) é uma desordem autossômica recessiva provocada por mutações no gene HFE e caracterizada pelo risco de uma sobrecarga de ferro. As mutações mais conhecidas associadas à HH são a C282Ye a H63D. Este estudo teve como objetivo determinar a frequência das mutações no sul do Brasil e em São Paulo. Ele utilizou a
J. Bras. Patol. Med. Lab.. Publicado em: 23/02/2016
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6. 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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7. Cinética e caracterização de ramnolipídeos produzidos por Pseudomonas aeruginosa MSIC02 utilizando glicerol como fonte de carbono
Glycerol, a co-product of biodiesel production, was used as a carbon source for the kinetics studies and production of biosurfactants by P. aeruginosa MSIC02. The highest fermentative parameters (Y PX = 3.04 g g-1; Y PS = 0.189 g g-1, P B = 31.94 mg L-1 h-1 and P X = 10.5 mg L-1 h-1) were obtained at concentrations of 0.4% (w/v) NaNO3 and 2% (w/v) glycerol.
Quím. Nova. Publicado em: 2014-06
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8. Mutations in the HFE gene and sporadic amyotrophic lateral sclerosis risk: a meta-analysis of observational studies
Iron homeostasis dysregulation has been regarded as an important mechanism in neurodegenerative diseases. The H63D and C282Y polymorphisms in theHFE gene may be involved in the development of sporadic amyotrophic lateral sclerosis (ALS) through the disruption of iron homeostasis. However, studies investigating the relationship between ALS and these two polym
Braz J Med Biol Res. Publicado em: 18/02/2014
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9. Fatores precipitantes na porfiria cutanea tardia no Brasil com enfase nas mutacoes do gene (HFE) da hemocromatose. Estudo de 60 casos
FUNDAMENTOS: A porfiria cutânea tardia é a forma mais comum das porfirias e caracteriza-se pela diminuição da atividade da enzima uroporfirinogênio descarboxilase. Há vários relatos da associação das mutações do gene HFE da hemocromatose hereditária com porfiria cutânea tardia no mundo, mas até hoje apenas um estudo foi realizado no Brasil.
An. Bras. Dermatol.. Publicado em: 2013-08
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10. Genetic analysis of the ELOVL6 gene polymorphism associated with type 2 diabetes mellitus
Recent animal studies have indicated that overexpression of the elongation of long-chain fatty acids family member 6 (Elovl6) gene can cause insulin resistance and β-cell dysfunction. These are the major factors involved in the development of type 2 diabetes mellitus (T2DM). To identify the relationship between single nucleotide polymorphisms (SNP) ofELOVL6
Braz J Med Biol Res. Publicado em: 22/07/2013
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11. HFE MUTATIONS AND IRON OVERLOAD IN PATIENTS WITH ALCOHOLIC LIVER DISEASE
ContextoA doença hepática alcoólica (DHA) está geralmente associada à sobrecarga de ferro, que pode contribuir para a sua patogênese, através do aumento do estresse oxidativo e dano celular. As descrições existentes na literatura sobre a associação entre mutações HFE e a gravidade da DHA nem sempre são concordantes.ObjetivosComparar a prevalên
Arq. Gastroenterol.. Publicado em: 2013-03
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12. 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