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Polymorphisms of the low-density lipoprotein receptor gene in Brazilian individuals with heterozygous familial hypercholesterolemia BJMBR
Salazar,L.A.; Cavalli,S.A.; Hirata,M.H.; Diament,J.; Forti,N.; Giannini,S.D.; Nakandakare,E.R.; Bertolami,M.C.; Hirata,R.D.C..
Familial hypercholesterolemia (FH) is a metabolic disorder inherited as an autosomal dominant trait characterized by an increased plasma low-density lipoprotein (LDL) level. The disease is caused by several different mutations in the LDL receptor gene. Although early identification of individuals carrying the defective gene could be useful in reducing the risk of atherosclerosis and myocardial infarction, the techniques available for determining the number of the functional LDL receptor molecules are difficult to carry out and expensive. Polymorphisms associated with this gene may be used for unequivocal diagnosis of FH in several populations. The aim of our study was to evaluate the genotype distribution and relative allele frequencies of three...
Tipo: Info:eu-repo/semantics/other Palavras-chave: Familial hypercholesterolemia; DNA polymorphism; Atherosclerosis; Genetics; LDL receptor.
Ano: 2000 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2000001100006
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Pitfalls in the assessment of murine atherosclerosis BJMBR
Catanozi,S.; Rocha,J.C.; Passarelli,M.; Chiquito,F.C.; Quintão,E.C.R.; Nakandakare,E.R..
This review provides examples of the fact that different procedures for the measurement of atherosclerosis in mice may lead to interpretation of the extent of atherosclerosis having markedly different biological and clinical significance for humans: 1) aortic cholesterol measurement is highly sensitive for the detection of early and advanced atherosclerosis lesions, but misses the identification of the location and complexity of these lesions that are so critical for humans; 2) the histological analysis of the aortic root lesions in simvastatin-treated and control mice reveals similar lesion morphology in spite of the remarkable simvastatin-induced reduction of the aortic cholesteryl ester content; 3) in histological analyses, chemical fixation and...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Atherosclerosis; Animal models; Disease models; Aorta; Pathology.
Ano: 2009 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2009000600001
Registros recuperados: 2
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