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Patterns of mitochondrial DNA damage in blood and brain tissues of a transgenic...
Kazachkova, Nadiya; Raposo, Mafalda; Montiel, Rafael; Cymbron, Teresa; Bettencourt, Conceição; Fernandes, Anabela Silva; Silva, Sara Carina Duarte daBACKGROUND: Machado-Joseph disease (MJD) is an autosomal dominant spinocerebellar ataxia caused by a CAG tract expansions in the ATXN3 gene. Patterns of mitochondrial damage associated with pathological findings of brain tissues could provide molecular biomarkers of this disorder. OBJECTIVE: The potential of mitochondrial DNA (mtDNA) damage as a biomarker of MJD progression was investigated using a transgeni...
The APOE ε2 allele increases the risk of Earlier Age at onset in Machado-Joseph...
Bettencourt, C.; Raposo, Mafalda; Kazachkova, Nadiya; Cymbron, Teresa; Santos, Cristina; Kay, Teresa; Vasconcelos, João; Maciel, P.; Donis, KarinaBackground. Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder of late onset, caused by a (CAG)n expansion at the ATXN3 gene (14q32.1). Variation in age-at-onset is partially explained by the size of the (CAG)n tract in expanded alleles. The remaining variation should be the product of other factors, namely modifier genes. The genotype at the APOE locus has been described as a poss...
Aterosclerose e doença cardiovascular : o problema do colesterol elevado
Cymbron, TeresaA secção Biologia é coordenada pelo Professor Universitário Armindo Rodrigues. ; A aterosclerose é a principal causa de patologia cardiovascular. A Hipercolesterolemia Familiar é uma doença genética, e um factor de risco para a aterosclerose.
Cross-sectional study of risk factors for atherosclerosis in the Azorean popula...
Cymbron, Teresa; Raposo, Mafalda; Kazachkova, Nadia; Bettencourt, Conceição; Silva, Francisca; Santos, Cristina; Dahmani, Yahya; Lourenço, Paula C.Copyright © 2011 Informa UK Ltd. ; Background: Atherosclerosis -a major cause of vascular disease, including ischemic heart disease (IHD), is a pathology that has a two-fold higher mortality rate in the Azorean Islands compared to mainland Portugal. Aim: This cross-sectional study investigated the role of genetic variation in the prevalence of atherosclerosis in this population. Subjects and methods: A total o...
Trace metals and over-expression of metallothioneins in bladder tumoral lesions...
Amaral, André; Cymbron, Teresa; Gärtner, Fátima; Lima, Manuela; Rodrigues, Armindo© 2009 Amaral et al; licensee BioMed Central Ltd. ; Background: Previous studies have provided some evidence of a possible association between cancer and metallothioneins. Whether this relates to an exposure to carcinogenic metals remains unclear. Methods: In order to examine the association between the expression of metallothioneins and bladder tumors, and to compare the levels of arsenic, cadmium, chromium, ...
Relationship of the APOE polymorphism and lipid profile: A population-based stu...
Raposo, Mafalda; Dahmani, Yahya; Silva, Francisca; Tavares, M.; Cymbron, Teresa; Santos, Cristina; Bettencourt, Conceição; Ferin, RitaEuropean Human Genetics Conference 2009: Abstract P17.18 em Livro de Resumos. Austria Center Vienna, Vienna, Austria, Saturday, May 23 – Tuesday, May 26, 2009. ; The factors leading to a two-fold mortality rate from coronary artery disease (CAD) in the Azores, as compared to Mainland Portugal, have not been elucidated. Previous studies reported a population tendency for hypercholesterolemia, one of the main fa...
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