eNOS gene Glu298Asp and 4b/a polymorphisms are associated with renal function parameters in Mexican patients with Fabry disease

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eNOS gene Glu298Asp and 4b/a polymorphisms are associated with renal function parameters in Mexican patients with Fabry disease.

Fabry disease (FD) is an inherited X-linked lysosomal disease that causes renal failure in a high percentage of affected individuals. The eNOS gene encodes for endothelial nitric oxide synthase, which plays an important role in glomerular hemodynamics. This gene has two main polymorphisms (Glu298Asp and 4b/a) that have been studied in the context of many different diseases, including those invo...

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Association of eNOS Glu298Asp polymorphism with end-stage renal disease.

Nitric oxide (NO) derived from endothelial cells is profoundly related to the maintenance of physiological vascular tone. Impairment of endothelial NO generation brought about by gene polymorphism is considered the major deterioration factor for progressive renal disease, including diabetic nephropathy. The present study aimed to elucidate the Glu298Asp polymorphism of endothelial NO synthase (...

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P-216: Common Polymorphisms of StAR Gene Are Not Associated with Polycystic Ovary Syndrome in Iranian Patients

Background: Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders, affecting 5-10% of reproductive aged women. High levels of androgen hormone can be accounted as the most important symptoms in PCOS. Androgen is the precursor of steroid biosynthesis in ovary. The transport of cholesterol to the inner mitochondrial membrane through StAR protein is also necessary for andr...

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The MHC2TA gene polymorphisms are not associated with restenosis after coronary stenting in Mexican patients.

OBJECTIVE The aim of this study was to test for association between MHC2TA gene polymorphisms and risk for restenosis after coronary stent placement in a group of Mexican patients. METHODS The MHC2TA-168A>G (rs3087456), 1614C>G (rs4774), and 2536G>A (rs2229320) single nucleotide polymorphisms were genotyped using 5' exonuclease TaqMan genotyping assays in a group of 202 patients, who underwen...

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ژورنال

عنوان ژورنال: Genetics and Molecular Research

سال: 2016

ISSN: 1676-5680

DOI: 10.4238/gmr15047802