Publications by authors named "Evangelista J"

By processing and abstracting diverse omics datasets into associations between genes and their attributes, the Harmonizome database enables researchers to explore and integrate knowledge about human genes from many central omics resources. Here, we introduce Harmonizome 3.0, a significant upgrade to the original Harmonizome database.

View Article and Find Full Text PDF

Lung cancer is still a leading cause of cancer-related deaths worldwide. Vital to ameliorating patient survival rates are early detection, precise evaluation, and personalized treatments. Recent years have witnessed a profound transformation in the field, marked by intricate diagnostic processes and intricate therapeutic protocols that integrate diverse omics domains, heralding a paradigm shift towards personalized and preventive healthcare.

View Article and Find Full Text PDF
Article Synopsis
  • - Glucose 6 phosphate dehydrogenase (G6PD) is a crucial enzyme in the pentose phosphate pathway, and its deficiency in red blood cells can lead to acute haemolytic anaemia, especially triggered by oxidative stress from infections or certain foods and medications, such as fava beans.
  • - A case study involving a 41-year-old woman from Italy revealed a novel genetic variant (c.1357G>A, p.(Val453Met)) linked to G6PD deficiency, confirmed through advanced DNA sequencing methods.
  • - The research emphasizes the significance of Sanger sequencing as a reliable method for confirming genetic variants, particularly for those that may be misidentified using initial testing methods, aligning with WHO guidelines
View Article and Find Full Text PDF

Purpose: The etiopathogenesis of coronal nonsyndromic craniosynostosis (cNCS), a congenital condition defined by premature fusion of 1 or both coronal sutures, remains largely unknown.

Methods: We conducted the largest genome-wide association study of cNCS followed by replication, fine mapping, and functional validation of the most significant region using zebrafish animal model.

Results: Genome-wide association study identified 6 independent genome-wide-significant risk alleles, 4 on chromosome 7q21.

View Article and Find Full Text PDF

Background And Aim: Insulin resistance and type 2 diabetes mellitus are common health issues in obese (OB) cats. In humans, obesity leads to alterations in adipokine and proinflammatory cytokine secretion, causing persistent inflammation. The inflammatory impact of obesity in cats remains unproven.

View Article and Find Full Text PDF

Chemical protein synthesis (CPS), in which custom peptide segments of ~20-60 aa are produced by solid-phase peptide synthesis and then stitched together through sequential ligation reactions, is an increasingly popular technique. The workflow of CPS is often depicted with a "bracket" style diagram detailing the starting segments and the order of all ligation, desulfurization, and/or deprotection steps to obtain the product protein. Brackets are invaluable tools for comparing multiple possible synthetic approaches and serve as blueprints throughout a synthesis.

View Article and Find Full Text PDF
Article Synopsis
  • The study analyzes the genetic profiles of recurrent thymomas, using samples from 23 patients out of a cohort of 426 thymomas for comparison with primary tumors and a control group of non-recurrent cases.
  • Comprehensive genetic profiling (CGP) was conducted using the NGS Tru-Sight Oncology assay, revealing no significant differences in genetic alterations between initial tumors and recurrent ones, nor between recurrent and non-recurrent thymomas.
  • However, it was found that cell cycle control gene alterations are linked with early recurrence, and over 50% of patients may qualify for potential targeted therapies through a precision medicine approach.
View Article and Find Full Text PDF

The health sector can contribute to the combat of violence against women, if its services offer qualified care, but there are challenges such as the lack of health professional qualification, even though it is provided in the National Policy to Combat Violence Against Women. This study aims to analyze how health workers have been qualified to act in the prevention and confrontation of violence against women in Brazil. An integrative literature review was made and sixteen articles were analyzed, addressing training trajectories and experience reports, both in the academic and the health service context.

View Article and Find Full Text PDF

Tributyltin (TBT) is an organotin compound that has several adverse health effects, including the development of obesity. Although obesity is strongly associated with adipose redox imbalance, there is a lack of information on whether TBT promotes a pro-oxidative environment in WAT. Thus, adult male Wistar rats were randomly exposed to either vehicle (ethanol 0.

View Article and Find Full Text PDF

Functionalized lipid probes are a critical new tool to interrogate the function of individual lipid species, but the structural parameters that constrain their utility have not been thoroughly described. Here, we synthesize three palmitic acid derivatives with a diazirine at different positions on the acyl chain and examine their metabolism, subcellular localization, and protein interactions. We demonstrate that while they produce very similar metabolites and subcellular distributions, probes with the diazirine at either end pulldown distinct subsets of proteins after photo-crosslinking.

View Article and Find Full Text PDF

Functionalized lipid probes are a critical new tool to interrogate the function of individual lipid species, but the structural parameters that constrain their utility have not been thoroughly described. Here, we synthesize three palmitic acid derivatives with a diazirine at different positions on the acyl chain and examine their metabolism, subcellular localization, and protein interactions. We demonstrate that while they produce very similar metabolites and subcellular distributions, probes with the diazirine at either end pulldown distinct subsets of proteins after photo-crosslinking.

View Article and Find Full Text PDF

Artificial Intelligence (AI) has revolutionized the management of non-small-cell lung cancer (NSCLC) by enhancing different aspects, including staging, prognosis assessment, treatment prediction, response evaluation, recurrence/prognosis prediction, and personalized prognostic assessment. AI algorithms may accurately classify NSCLC stages using machine learning techniques and deep imaging data analysis. This could potentially improve precision and efficiency in staging, facilitating personalized treatment decisions.

View Article and Find Full Text PDF

Many biomedical research publications contain gene sets in their supporting tables, and these sets are currently not available for search and reuse. By crawling PubMed Central, the Rummagene server provides access to hundreds of thousands of such mammalian gene sets. So far, we scanned 5,448,589 articles to find 121,237 articles that contain 642,389 gene sets.

View Article and Find Full Text PDF

The BAP1 tumor suppressor gene encodes a deubiquitinase enzyme involved in several cellular activities, including DNA repair and apoptosis. Germline pathogenic variants in BAP1 have been associated with heritable conditions including BAP1 tumor predisposition syndrome 1 (BAP1-TPDS1) and a neurodevelopmental disorder known as Kury-Isidor syndrome (KURIS). Both these conditions are caused by monoallelic, dominant alterations of BAP1 but have never been reported in the same subject or family, suggesting a mutually exclusive genotype-phenotype correlation.

View Article and Find Full Text PDF
Article Synopsis
  • - Malignant pleural mesothelioma (MPM) is a highly aggressive cancer linked primarily to asbestos exposure, but recent trends show a growing number of cases without clear asbestos links, suggesting genetic factors may also play a significant role in susceptibility.
  • - About 20% of MPM cases could be influenced by genetic predisposition, particularly involving the BAP1 gene, where those carrying specific variants tend to experience less aggressive forms of the disease and have different treatment needs.
  • - The review summarizes research on both genetic (germline) and non-genetic (asbestos-related) causes of MPM, highlighting the importance of genetic testing and surveillance for at-risk individuals.
View Article and Find Full Text PDF
Article Synopsis
  • Despite the notable advancements in immunotherapy for cancer, only a small percentage (less than 20%) show lasting responses to immune checkpoint blockade, leading researchers to consider combination therapies that target multiple immune evasion strategies.
  • Researchers analyzed data from over 1,000 tumors across ten cancers to identify seven distinct immune subtypes, examining their unique genomic, epigenetic, transcriptomic, and proteomic characteristics.
  • By investigating kinase activities linked to these immune subtypes, the study uncovered potential therapeutic targets that could improve future immunotherapy approaches and precision medicine.
View Article and Find Full Text PDF

Non-small cell lung cancer (NSCLC) is the leading cause of cancer-related mortality worldwide. Notably, the incidence of lung cancer among never-smokers, predominantly women, has been rising in recent years. Among the various implicated risk factors, human papilloma virus (HPV) may play a role in the development of NSCLC in a certain subset of patients.

View Article and Find Full Text PDF

The ability of a species to withstand human impact depends on its life history characteristics, including social, ranging, and reproductive activity. The genera Lagothrix and Cacajao are more susceptible to anthropic action than small-sized primates due to their slower life histories, more restricted geographical ranges, and lower population densities. This narrative literature review aimed to gather scientific information available from the last 60 years on the reproductive biology of females of the genera Lagothrix and Cacajao.

View Article and Find Full Text PDF

Objective: to describe the sociodemographic profile of reported cases of sexual violence (SV) and the distribution of care services for this health condition in the state of Minas Gerais, Brazil, 2019.

Methods: this was a descriptive study of the cases of sexual violence reported on the Notifiable Health Conditions Information System and care services registered in the National Health Establishment Registry.

Results: a total of 4,418 notifications of SV were identified during the study period, representing more than 12 notifications per day; the majority of notifications were among females (87.

View Article and Find Full Text PDF
Article Synopsis
  • - Birth defects affect about 1 in 33 births in the U.S., stemming from genetic and various environmental factors, but their exact causes are often unknown.
  • - Researchers created the Reproductive Toxicity Knowledge Graph (ReproTox-KG) to analyze connections between drugs, genes, and birth defects, gathering data from multiple scientific sources.
  • - This tool scored over 30,000 small molecules for their potential to cause birth defects and identifies over 500 relevant associations, providing a valuable resource for understanding the underlying mechanisms of drug-induced birth defects.
View Article and Find Full Text PDF

Background: The current management of lung cancer patients has reached a high level of complexity. Indeed, besides the traditional clinical variables (e.g.

View Article and Find Full Text PDF

In the last decade, the emergence of effective systemic therapies (ESTs) in the form of both targeted and immuno-based therapies has revolutionized the treatment of patients with advanced stage III and stage IV melanoma. Even though lungs represent the most frequent site of melanoma metastases, only limited data are available on the role of surgery in isolated pulmonary metastases from malignant melanoma (PmMM) in the era of ESTs. The aim of this study is to describe the outcomes of patients who underwent metastasectomy of PmMM in the era of ESTs, in order to identify prognostic factors affecting survival and to provide a framework for more informed patient selection of treatmeant with lung surgery in the future.

View Article and Find Full Text PDF