Publications by authors named "Valdemir Pereira de Sousa"
Asthma is a complex disease with varied clinical manifestations resulting from the interaction between environmental and genetic factors. While chronic airway inflammation and hyperresponsiveness are central features, the etiology of asthma is multifaceted, leading to a diversity of phenotypes and endotypes. Although most research into the genetics of asthma focused on the analysis of single nucleotide polymorphisms (SNPs), studies highlight the importance of structural variations, such as copy number variations (CNVs), in the inheritance of complex characteristics, but their role has not yet been fully elucidated in asthma.
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- - Excessive weight, linked to genetic and environmental factors, is associated with health issues like cardiovascular diseases and type-2 diabetes, and the study focuses on NOTCH1's role in metabolism and adipogenesis.
- - The research analyzed participants' genetic data from a cohort in São Paulo, identifying specific NOTCH1 SNPs with the minor allelic frequency and making associations between these SNPs and excessive weight.
- - Notably, SNP rs9411207 was linked to a higher risk of obesity, with certain genotypes being more prevalent in overweight individuals, suggesting these genetic variations could influence fat metabolism and warrant further investigation in larger populations for potential management strategies.
Breast cancer is the second most frequent cancer in the world. It is a heterogeneous disease and the leading cause of cancer mortality in women. Advances in molecular technologies allowed for the identification of new and more specifics biomarkers for breast cancer diagnosis, prognosis, and risk prediction, enabling personalized treatments, improving therapy, and preventing overtreatment, undertreatment, and incorrect treatment.
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