Publications by authors named "R Sanchez-Urbina"

The discovery of the structure of DNA and the mechanisms that regulate gene expression during the first half of the last century established the theoretical and methodological bases for the development of technology that makes it possible to modify a gene or a genome. The clinical application of techniques that modify the expression of a gene is called gene therapy (GT). These techniques include platforms (viral and non-viral) that bring genetic modification systems or healthy genes to the target cells.

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Introduction: The placenta provides nutrients to the fetus, and it has protective effects against harmful substances. Unhealthy maternal diets and toxic agents might increase free radical (FR) production. Elevated FR levels are associated with a high risk of oxidative stress, which may cause DNA damage.

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Background: Opitz GBBB syndrome (GBBB) is an X-linked disease characterized by midline defects, including congenital heart defects. We present our diagnostic approach to the identification of GBBB in a consanguineous family in which two males siblings were concordant for a total anomalous connection of pulmonary veins and minor facial dysmorphias.

Methods: Targeted exome sequencing analysis of a 380-gene panel associated with cardiovascular disease was performed on the propositus.

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During pregnancy, appropriate nutritional support is necessary for the development of the foetus. Maternal nutrition might protect the foetus from toxic agents such as free radicals due to its antioxidant content. In this study, 90 mothers and their children were recruited.

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Thyroid nodules are the main indicators of thyroid cancer, their malignancy is evaluated by cytological analysis and imaging technology, however, there are still cases where the result is not enough to classify thyroid cancer. Therefore, there is a necessity for accurate molecular biomarkers to collaborate in the diagnosis. Here, we analyzed the mRNA relative expression of CLDN1, TIMP1, and KRT19 genes in FNA of malignant (n = 48) and benign (n = 49) thyroid nodules by RT-qPCR analysis to assess their predictive value as cancer biomarkers.

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