Consulta: creatorFacets:"ALVO,MIRIAM"
Registros recuperados: 2
Data/hora: 04/06/2024 01:13:44

Analysis of the intronic single nucleotide polymorphism rs#466452 of the nephrin gene in patients with diabetic nephropathy
Provedor de dados: 48
Autores: GONZÁLEZ,RODRIGO; TIRADO,ARES; ROJAS,LUIS A; OSSANDÓN,FRANCISCO J; ALVO,MIRIAM; WOLFF,CARLOS; SEELENFREUND,DANIELA; DURRUTY,PILAR; LOBOS,SERGIO.
We present the analysis of an intronic polymorphism of the nephrin gene and its relationship to the development of diabetic nephropathy in a study of diabetes type 1 and type 2 patients. The frequency of the single nucleotide polymorphism rs#466452 in the nephrin gene was determined in 231 patients and control subjects. The C/T status of the polymorphism was assessed using restriction enzyme digestions and the nephrin transcript from a kidney biopsy was examined. Association between the polymorphism and clinical parameters was evaluated using multivaríate correspondence analysis. A bioinformatics analysis of the single nucleotide polymorphism rs#466452 suggested the appearance of a splicing enhancer sequence in intron 24 of the nephrin gene and a...
Tipo: Journal article
Palavras-chave: Diabetic nephropathy; NPHS1; Polymorphism; Splicing enhancer.
Ano: 2009
URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602009000200007

A pilot study on genetic variation in purine-rich elements in the nephrin gene promoter in type 2 diabetic patients
Provedor de dados: 48
Autores: 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