Publications by authors named "J S A M Evangelista"

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.

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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.

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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
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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.

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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.

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