- Lipoproteins and Cardiovascular Health
- Genetic factors in colorectal cancer
- RNA modifications and cancer
- Parasites and Host Interactions
- Genomics and Rare Diseases
- Cancer-related molecular mechanisms research
- RNA Research and Splicing
- Genetic Associations and Epidemiology
- Cancer, Lipids, and Metabolism
- MicroRNA in disease regulation
- Diabetes, Cardiovascular Risks, and Lipoproteins
- Trace Elements in Health
- Parasite Biology and Host Interactions
- Genetics and Neurodevelopmental Disorders
- Ubiquitin and proteasome pathways
- Autism Spectrum Disorder Research
- Infant Health and Development
- Bioinformatics and Genomic Networks
- Neuroendocrine regulation and behavior
- Cholesterol and Lipid Metabolism
- Cardiomyopathy and Myosin Studies
- Treatment of Major Depression
- Neuroscience and Neuropharmacology Research
- Congenital heart defects research
- Extracellular vesicles in disease
Universidade de São Paulo
2019-2025
PharmacoGenetics (China)
2024
Universidade Federal de Ouro Preto
2013-2022
Long noncoding RNAs (lncRNAs) are transcripts generally longer than 200 nucleotides with no or poor protein coding potential, and most of their functions also poorly characterized. Recently, an increasing number studies have shown that lncRNAs can be involved in various critical biological processes such as organism development cancer progression. Little, however, is known about effects helminths parasites, Schistosoma mansoni . Here, we present a computational pipeline to identify...
Several genes related to the ubiquitin (Ub)-proteasome pathway, including those coding for proteasome subunits and conjugation enzymes, are differentially expressed during Schistosoma mansoni life cycle. Although deubiquitinating enzymes have been reported be negative regulators of protein ubiquitination shown play an important role in Ub-dependent processes, little is known about their S. . In this study, we analysed Ub carboxyl-terminal hydrolase (UCHs) proteins found database parasite’s...
The Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) promotes the degradation of low-density lipoprotein receptors (LDLR). Gain-of-function (GOF) variants PCSK9 significantly affects lipid metabolism leading to coronary artery disease (CAD), owing raising plasma (LDL). Considering public health matter, large-scale genomic studies have been conducted worldwide provide genetic architecture populations for implementation precision medicine actions. Nevertheless, despite advances in...
Abstract: Statins are the most widely used cholesterol-lowering drugs for cardiovascular diseases prevention. However, some patients refractory to treatment, whereas others experience statin-related adverse events (SRAE). It has been increasingly important identify pharmacogenetic biomarkers predicting statin response and events. This case report describes a female patient with familial hypercholesterolemia (FH) who showed late rosuvastatin experienced myalgia on treatment. In first visit...
Aim: Functional analysis of PCSK9 3′UTR variants and mRNA–miRNA interactions were explored in patients with familial hypercholesterolemia (FH). Materials & methods: identified by exon-targeted gene sequencing. effects analyzed using silico vitro studies HEK293FT HepG2 cells. Results: Twelve detected 88 FH patients. c.*75C >T c.*345C disrupted miR-6875, miR-4721 miR-564. Transient transfection the decreased luciferase activity miR-564 mimics reduced expression Conclusion: has a possible role...
Statins are the first-line treatment for familial hypercholesterolemia (FH), but response is highly variable due to genetic and nongenetic factors. Here, we explored association between variability in 114 Brazilian adult FH patients. Specifically, a panel of 84 genes was analyzed by exon-targeted gene sequencing (ETGS), functional impact variants pharmacokinetic (PK) assessed using an array functionality prediction methods. Low-density lipoprotein cholesterol (LDL-c) statins (reduction ≥...
BACKGROUND Schistosomiasis is a disease caused by Schistosoma. Due to its complex life cycle, evolutionary position and sexual dimorphism, schistosomes have several mechanisms of gene regulation. MicroRNAs (miRNAs) are short endogenous RNAs that regulate expression at the post-transcriptional level targeting mRNA transcripts. OBJECTIVES Here, we tested 12 miRNAs identified their putative targets using computational approach. METHODS We performed profiles set during parasite's cycle...
Objectives This study explored the association of deleterious variants in pharmacodynamics (PD) genes with statin response and adverse effects patients familial hypercholesterolemia (FH) analyzed their potential on protein structure stability. Methods Clinical laboratory data were obtained from 144 adult FH treated statins. A panel 32 PD was by exon-targeted gene sequencing. Deleterious identified using prediction algorithms structural molecular modeling studies. Results total 102 predicted...
Aim: Methylation of LDLR, PCSK9 and LDLRAP1 CpG sites was assessed in patients with familial hypercholesterolemia (FH). Methods: DNA methylation analyzed by pyrosequencing 131 FH 23 normolipidemic (NL) subjects. Results: LDLRP1 similar between positive (MD) negative (non-MD) for pathogenic variants FH-related genes. LDLR higher MD non-MD groups than NL subjects (p < 0.05). profiles were associated clinical manifestations cardiovascular events Conclusion: Differential is events. This profile...
Noncoding microRNAs are involved in lipid and carbohydrate metabolism pathways powerful regulators of gene expression. The goals this study were to evaluate the temporal expression profiles miRNAs rat adipose tissue predict mRNA−microRNA interactions. Newly weaned Wistar rats divided into groups fed a standard diet high-sucrose (HSD). HSD contains 66.86% carbohydrates (40.45% diet, 40.45% condensed milk, 8.58% crystal sugar), was provided for 4, 8 15-week periods investigate levels visceral...