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A pilot study on genetic variation in purine-rich elements in the nephrin gene promoter in type 2 diabetic patients Biol. Res.
GONZÁLEZ,RODRIGO; TIRADO,ARES; BALANDA,MONSERRAT; ALVO,MIRIAM; BARQUÍN,INÉS; DURRUTY,PILAR; LOBOS,SERGIO; SEELENFREUND,DANIELA.
Diabetic nephropathy (DN) is one of the major complications of type 2 diabetes and is associated with coronary disease. Nephrin, a protein mainly expressed in glomeruli, is decreased in DN and other kidney diseases. Since insulin levels are misregulated in type 2 diabetes, a possible connection between DN and its decreased nephrin expression could be the presence of regulatory elements responsive to insulin in the nephrin gene (NPHS1) promoter region. In this work, using bioinformatic tools, we identified a purine-rich GAGA element in the nephrin gene promoter and conducted a genomic study in search of the presence of polymorphisms in this element and its possible association with DN in type 2 diabetic patients. We amplified and sequenced a 514 bp promoter...
Tipo: Journal article Palavras-chave: GAGA box; Gene promoter; Nephrin; Polymorphism.
Ano: 2007 URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602007000400010
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