Publications by authors named "M Isabel Prata"

Background: Over the past decade, variations of the coding portion of the human genome have become increasingly evident. In this study, we focus on polymorphic pseudogenes, a unique and relatively unexplored type of pseudogene whose inactivating mutations have not yet been fixed in the human genome at the global population level. Thus, polymorphic pseudogenes are characterized by the presence in the population of both coding alleles and non-coding alleles originating from Loss-of-Function (LoF) mutations.

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Background: The management of unstable angina (UA) presents a challenge due to its subjective diagnosis and limited representation in randomized clinical trials that inform current practices.

Objectives: This study aims to identify key factors associated with the indication for invasive versus non-invasive stratification in this population and to evaluate factors associated with stratification test results.

Methods: This retrospective cohort study included patients hospitalized with UA over a consecutive 20-month period.

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Among the many lysosomal storage disorders (LSDs) that would benefit from the establishment of novel cell models, either patient-derived or genetically engineered, is mucopolysaccharidosis type II (MPS II). Here, we present our results on the establishment and characterization of two MPS II patient-derived stem cell line(s) from deciduous baby teeth. To the best of our knowledge, this is the first time a stem cell population has been isolated from LSD patient samples obtained from the dental pulp.

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The rapid fetal development and the increased demand for milk result in a catabolic state and oxidative stress in hyperprolific sows. Despite animal defense mechanisms, the dietary supplementation of antioxidants is being evaluated to reduce the impacts of excess free radicals. The aim of this study was to evaluate the short- and long-term effects of beta-carotene supplementation for sows on the reproductive response and performance of suckling piglets.

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Introduction: When it comes to disease modeling, countless models are available for Lysosomal Storage Diseases (LSD). Historically, two major approaches are well-established: in vitro assessments are performed in patient fibroblasts, while in vivo pre-clinical studies are performed in mouse models. Still, both platforms have a series of drawbacks.

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