Browsing by Author "Xavier, J"
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- Experimental Protocols to Test Aortic Soft Tissues: a Systematic ReviewPublication . Valente, R; Mourato, A; Xavier, J; Sousa, P; Domingues, T; Tavares, P; Avril, S; Tomás, A; Fragata, JExperimental protocols are fundamental for quantifying the mechanical behaviour of soft tissue. These data are crucial for advancing the understanding of soft tissue mechanics, developing and calibrating constitutive models, and informing the development of more accurate and predictive computational simulations and artificial intelligence tools. This paper offers a comprehensive review of experimental tests conducted on soft aortic tissues, employing the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) methodology, based on the Scopus, Web of Science, IEEE, Google Scholar and PubMed databases. This study includes a detailed overview of the test method protocols, providing insights into practical methodologies, specimen preparation and full-field measurements. The review also briefly discusses the post-processing methods applied to extract material parameters from experimental data. In particular, the results are analysed and discussed providing representative domains of stress-strain curves for both uniaxial and biaxial tests on human aortic tissue.
- Gene Expression Profiling and Association Studies Implicate the Neuregulin Signaling Pathway in Behçet's Disease SusceptibilityPublication . Xavier, J; Krug, T; Davatchi, F; Shahram, F; Fonseca, B; Jesus, G; Barcelos, F; Vedes, J; Salgado, M; Abdollahi, B; Nadji, A; Moraes-Fontes, MF; Shafiee, N; Ghaderibarmi, F; Patto, J; Crespo, J; Oliveira, SBehçet's disease (BD) is a complex disease with genetic and environmental risk factors implicated in its etiology; however, its pathophysiology is poorly understood. To decipher BD's genetic underpinnings, we combined gene expression profiling with pathway analysis and association studies. We compared the gene expression profiles in peripheral blood mononuclear cells (PBMCs) of 15 patients and 14 matched controls using Affymetrix microarrays and found that the neuregulin signaling pathway was over-represented among the differentially expressed genes. The Epiregulin (EREG), Amphiregulin (AREG), and Neuregulin-1 (NRG1) genes of this pathway stand out as they are also among the top differentially expressed genes. Twelve haplotype tagging SNPs at the EREG-AREG locus and 15 SNPs in NRG1 found associated in at least one published BD genome-wide association study were tested for association with BD in a dataset of 976 Iranian patients and 839 controls. We found a novel association with BD for the rs6845297 SNP located downstream of EREG, and replicated three associations at NRG1 (rs4489285, rs383632, and rs1462891). Multifactor dimensionality reduction analysis indicated the existence of epistatic interactions between EREG and NRG1 variants. EREG-AREG and NRG1, which are members of the epidermal growth factor (EGF) family, seem to modulate BD susceptibility through main effects and gene–gene interactions. These association findings support a role for the EGF/ErbB signaling pathway inBD pathogenesis that warrants further investigation and highlight the importance of combining genetic and genomic approaches to dissect the genetic architecture of complex diseases.