Browsing by Author "Martins, D. S."
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- Functional study of DAND5 variant in patients with congenital heart disease and laterality defects. Insights for the control of cardiomyocyte proliferation in disease and regenerative medicinePublication . Inacio, J. M.; Cristo, Fernando; Almeida, S.; Mendes, P.; Martins, D. S.; Maio, J.; Anjos, R.; Belo, José A.Background: Perturbations on the Left-Right axis establishment lead to laterality defects, with frequently associated Congenital Heart Diseases (CHDs). Indeed, in the last decade, it has been reported that the etiology of isolated cases of CHDs or cases of laterality defects with associated CHDs is linked with variants of genes involved in the Nodal signaling pathway. Methods: With this in mind, we analyzed a cohort of 38 unrelated patients with Congenital Heart Defects that can arise from initial perturbations in the formation of the Left-Right axis and 40 unrelated ethnically matched healthy individuals as a control population. Genomic DNA was extracted from buccal epithelial cells, and variants screening was performed by PCR and direct sequencing. A Nodal-dependent luciferase assay was conducted in order to determine the functional effect of the variant found. Results: In this work, we report two patients with a DAND5 heterozygous non-synonymous variant (c.455G > A) in the functional domain of the DAND5 protein (p.R152H), a master regulator of Nodal signaling. Patient 1 presents left isomerism, ventricular septal defect with overriding aorta and pulmonary atresia, while patient 2 presents ventricular septal defect with overriding aorta, right ventricular hypertrophy and pulmonary atresia (a case of extreme tetralogy of Fallot phenotype). The functional analysis assay showed a significant decrease in the activity of this variant protein when compared to its wild-type counterpart. Conclusion: Altogether, our results provide new insight into the molecular mechanism of the laterality defects and related CHDs, priming for the first time DAND5 as one of multiple candidate determinants for CHDs in humans.
- Variability of olive oil cultivar on stability during storagePublication . Neves, Alcinda; Miguel, Maria Graça; Pedro, L. G.; Barroso, J. G.; Figueiredo, A. C.; Martins, D. S.; Dandlen, S. A.The fatty acid composition and stability of three Portuguese monovarietal olive oils, Cobrancosa, Macanilha and Verdeal, was studied, maintaining the olive oils at 60 degrees C for 75 and 102 days, respectively. Oleic acid was the main fatty acid (64-69%) in three olive oils cultivars, followed by palmitic acid (15-18%). The highest percentages of palmitic acid were observed in Macanilha olive oil (17-18%). Linolenic acid content was 3%, on average. Storing the oils at 60 degrees C over 75 days did not affect the levels of fatty acids. Cobrancosa and Macanilha olive oils were more resistant to hydroperoxide formation than Verdeal olive oil, whereas this oil and that of Macanilha were more resistant to the degradation of those peroxides. Cobrancosa olive oil possessed higher levels of phenols and higher ability for scavenging free radicals than the remaining oils. a-Tocopherol content was higher in Cobrancosa and Macanilha oils than in Verdeal, but a similar high degradation of this vitamin was observed in all oils, disappearing after 5 to 8 days of storage at 60 degrees C.