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Your search keyword '"Pereira-Leal, José B."' showing total 171 results
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171 results on '"Pereira-Leal, José B."'

5. Comparative Genomics of Trypanosomatid Parasitic Protozoa

Author

El-Sayed, Najib M., Myler, Peter J., Blandin, Gaëlle, Berriman, Matthew, Crabtree, Jonathan, Aggarwal, Gautam, Caler, Elisabet, Renauld, Hubert, Worthey, Elizabeth A., Hertz-Fowler, Christiane, Ghedin, Elodie, Peacock, Christopher, Bartholomeu, Daniella C., Haas, Brian J., Tran, Anh-Nhi, Wortman, Jennifer R., Angiuoli, Samuel, Anupama, Atashi, Badger, Jonathan, Bringaud, Frederic, Cadag, Eithon, Carlton, Jane M., Cerqueira, Gustavo C., Creasy, Todd, Delcher, Arthur L., Djikeng, Appolinaire, Embley, T. Martin, Hauser, Christopher, Ivens, Alasdair C., Kummerfeld, Sarah K., Pereira-Leal, Jose B., Nilsson, Daniel, Peterson, Jeremy, Salzberg, Steven L., Shallom, Joshua, Silva, Joana C., Sundaram, Jaideep, Westenberger, Scott, White, Owen, Melville, Sara E., Donelson, John E., Andersson, Björn, Stuart, Kenneth D., and Hall, Neil

Published
2005

7. BRCA1 VUS

Author

Adubeiro Lourenço, Rita, Lança, Miguel, Gil, Octávia Monteiro, Cardoso, Joana, Lourenço, Teresa, Pereira-Leal, José B., Rodrigues, Antonio Sebastião, Rueff, Jose, Silva, SN, NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM), and Centre for Toxicogenomics and Human Health (ToxOmics)

Subjects
next‑generation sequencing, Cancer Research, breast cancer, genotoxic challenge, Oncology, SDG 3 - Good Health and Well-being, functional analysis of VUS, Genetics, Molecular Medicine, BRCA1, variants of unknown significance (VUS), Biochemistry, Molecular Biology
Abstract

Genetic testing for susceptibility genes through next‑generation sequencing (NGS) has become a widely used technique. Using this, a number of genetic variants have been identified, several of which are variants of unknown significance (VUS). These VUS can either be pathogenic or benign. However, since their biological effect remains unclear, functional assays are required to classify their functional nature. As the use of NGS becomes more mainstream as a diagnostic tool in clinical practice, the number of VUS is expected to increase. This necessitates their biological and functional classification. In the present study, a VUS was identified in the BRCA1 gene (NM_007294.3:c.1067A>G) in two women at risk for breast cancer, for which no functional data has been reported. Therefore, peripheral lymphocytes were isolated from the two women and also from two women without the VUS. DNA from all samples were sequenced by NGS of a breast cancer clinical panel. Since the BRCA1 gene is involved in DNA repair and apoptosis, the functional assays chromosomal aberrations, cytokinesis‑blocked micronucleus, comet, γH2AX, caspase and TUNEL assays were then conducted on these lymphocytes after a genotoxic challenge by ionizing radiation or doxorubicin to assess the functional role of this VUS. The micronucleus and TUNEL assays revealed a lower degree of DNA induced‑damage in the VUS group compared with those without the VUS. The other assays showed no significant differences between the groups. These results suggested that this BRCA1 VUS is likely benign, since the VUS carriers were apparently protected from deleterious chromosomal rearrangements, subsequent genomic instability and activation of apoptosis. publishersversion published

Published
2023

9. A Randomized, Double-Blind, Controlled Trial

Author

Marques, Cláudia, Dinis, Liliana, Barreiros Mota, Inês, Morais, Juliana, Ismael, Shámila, Pereira-Leal, José B, Cardoso, Joana, Ribeiro, Pedro, Beato, Helena, Resende, Mafalda, Espírito Santo, Christophe, Cortez, Ana Paula, Rosário, André, Pestana, Diogo, Teixeira, Diana, Faria, Ana, Calhau, Conceição, NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM), Comprehensive Health Research Centre (CHRC) - pólo NMS, and Centro de Estudos de Doenças Crónicas (CEDOC)

Subjects
gut microbiota, alcohol, beer, nonalcoholic beer, polyphenols
Abstract

Funding This work was supported by ERDF through the operation POCI-01−0145-ERDF-007746 funded by the Programa Operacional Competitividade e Internacionalização − COMPETE2020 and by FCT - Fundação para a Ciência e a Tecnologia, IP national support through CINTESIS, R&D Unit (UIDB/4255/2020), CHRC (UIDP/04923/2020 and UIDB/04923/2020) and through the project reference PTDC/BAA-AGR/7419/2020. Gut microbiota modulation might constitute a mechanism mediating the effects of beer on health. In this randomized, double-blinded, two-arm parallel trial, 22 healthy men were recruited to drink 330 mL of nonalcoholic beer (0.0% v/v) or alcoholic beer (5.2% v/v) daily during a 4-week follow-up period. Blood and faecal samples were collected before and after the intervention period. Gut microbiota was analyzed by 16S rRNA gene sequencing. Drinking nonalcoholic or alcoholic beer daily for 4 weeks did not increase body weight and body fat mass and did not changed significantly serum cardiometabolic biomarkers. Nonalcoholic and alcoholic beer increased gut microbiota diversity which has been associated with positive health outcomes and tended to increase faecal alkaline phosphatase activity, a marker of intestinal barrier function. These results suggest the effects of beer on gut microbiota modulation are independent of alcohol and may be mediated by beer polyphenols. publishersversion published

Published
2022

10. Impact of Beer and Nonalcoholic Beer Consumption on the Gut Microbiota: A Randomized, Double-Blind, Controlled Trial

Author

Marques, Cláudia, primary, Dinis, Liliana, additional, Barreiros Mota, Inês, additional, Morais, Juliana, additional, Ismael, Shámila, additional, Pereira-Leal, José B., additional, Cardoso, Joana, additional, Ribeiro, Pedro, additional, Beato, Helena, additional, Resende, Mafalda, additional, Espírito Santo, Christophe, additional, Cortez, Ana Paula, additional, Rosário, André, additional, Pestana, Diogo, additional, Teixeira, Diana, additional, Faria, Ana, additional, and Calhau, Conceição, additional

Published
2022
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11. MAIS-TB: An Integrated Web Tool for Molecular Epidemiology Analysis

Author

Soares, Patricia, Gonçalves, Carlos Penha, Gomes, Gabriela, Pereira-Leal, José B., Hutchison, David, Series editor, Kanade, Takeo, Series editor, Kittler, Josef, Series editor, Kleinberg, Jon M., Series editor, Mattern, Friedemann, Series editor, Mitchell, John C., Series editor, Naor, Moni, Series editor, Nierstrasz, Oscar, Series editor, Pandu Rangan, C., Series editor, Steffen, Bernhard, Series editor, Sudan, Madhu, Series editor, Terzopoulos, Demetri, Series editor, Tygar, Doug, Series editor, Vardi, Moshe Y., Series editor, Weikum, Gerhard, Series editor, Böhm, Christian, editor, Khuri, Sami, editor, Lhotská, Lenka, editor, and Pisanti, Nadia, editor

Published
2011
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16. A Pilot Study on the Metabolic Impact of Mediterranean Diet in Type 2 Diabetes: Is Gut Microbiota the Key?

Author

Ismael, Shámila, primary, Silvestre, Marta P., additional, Vasques, Miguel, additional, Araújo, João R., additional, Morais, Juliana, additional, Duarte, Maria Inês, additional, Pestana, Diogo, additional, Faria, Ana, additional, Pereira-Leal, José B., additional, Vaz, Joana, additional, Ribeiro, Pedro, additional, Teixeira, Diana, additional, Marques, Cláudia, additional, and Calhau, Conceição, additional

Published
2021
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23. Pericentrin-mediated SAS-6 recruitment promotes centriole assembly

Author

Ito, Daisuke, primary, Zitouni, Sihem, additional, Jana, Swadhin Chandra, additional, Duarte, Paulo, additional, Surkont, Jaroslaw, additional, Carvalho-Santos, Zita, additional, Pereira-Leal, José B, additional, Ferreira, Miguel Godinho, additional, and Bettencourt-Dias, Mónica, additional

Published
2019
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28. Actin stress fiber organization promotes cell stiffening and proliferation of pre-invasive breast cancer cells

Author

Tavares, Sandra, primary, Vieira, André Filipe, additional, Taubenberger, Anna Verena, additional, Araújo, Margarida, additional, Martins, Nuno Pimpao, additional, Brás-Pereira, Catarina, additional, Polónia, António, additional, Herbig, Maik, additional, Barreto, Clara, additional, Otto, Oliver, additional, Cardoso, Joana, additional, Pereira-Leal, José B., additional, Guck, Jochen, additional, Paredes, Joana, additional, and Janody, Florence, additional

Published
2017
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31. Genetic Competence Drives Genome Diversity in Bacillus subtilis.

Author

Brito, Patrícia H., Chevreux, Bastien, Serra, Cláudia R., Schyns, Ghislain, Henriques, Adriano O., and Pereira-Leal, José B.

Subjects
PROKARYOTE genetics, HORIZONTAL gene transfer, BACILLUS subtilis genetics, NUCLEOTIDES, BACTERIAL genomes
Abstract

Prokaryote genomes are the result of a dynamic flux of genes, with increases achieved via horizontal gene transfer and reductions occurring through gene loss. The ecological and selective forces that drive this genomic flexibility vary across species. Bacillus subtilis is anaturally competent bacterium that occupies various environments, including plant-associated, soil, and marineniches, and the gut of both invertebrates and vertebrates. Here, we quantify the genomic diversity of B. subtilis and infer the genome dynamics that explain the high genetic and phenotypic diversity observed. Phylogenomic and comparative genomic analyses of 42 B. subtilis genomes uncover a remarkable genome diversity that translates into a core genome of 1,659 genes and an asymptotic pangenome growth rate of 57 new genes per new genome added. This diversity is due to a large proportion of low-frequency genes that are acquired from closely related species. We find no gene-loss bias among wild isolates, which explains why the cloud genome, 43%of the species pangenome, represents only a small proportion of each genome. We show that B. subtilis can acquire xenologous copies of core genes that propagate laterally among strains within a niche. While not excluding the contributions of other mechanisms, our results strongly suggest a process of gene acquisition that is largely driven by competence, where the long-term maintenance of acquired genes depends on local and global fitness effects. This competence-driven genomic diversity provides B. subtilis with its generalist character, enabling it to occupy a wide range of ecological niches and cycle through them. [ABSTRACT FROM AUTHOR]

Published
2018
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32. BRCA1 VUS: A functional analysis to differentiate pathogenic from benign variants identified in clinical diagnostic panels for breast cancer.

Author

Lourenço, Rita Adubeiro, Lança, Miguel, Monteiro Gil, Octávia, Cardoso, Joana, Lourenço, Teresa, Pereira-Leal, José B., Rodrigues, António Sebastião, Rueff, José, and Nunes Silva, Susana

Subjects
GENETIC toxicology, BIOLOGICAL classification, FUNCTIONAL analysis, BRCA genes, BREAST cancer, GENETIC testing
Abstract

Genetic testing for susceptibility genes through next-generation sequencing (NGS) has become a widely used technique. Using this, a number of genetic variants have been identified, several of which are variants of unknown significance (VUS). These VUS can either be pathogenic or benign. However, since their biological effect remains unclear, functional assays are required to classify their functional nature. As the use of NGS becomes more mainstream as a diagnostic tool in clinical practice, the number of VUS is expected to increase. This necessitates their biological and functional classification. In the present study, a VUS was identified in the BRCA1 gene (NM_007294.3:c.1067A>G) in two women at risk for breast cancer, for which no functional data has been reported. Therefore, peripheral lymphocytes were isolated from the two women and also from two women without the VUS. DNA from all samples were sequenced by NGS of a breast cancer clinical panel. Since the BRCA1 gene is involved in DNA repair and apoptosis, the functional assays chromosomal aberrations, cytokinesis-blocked micronucleus, comet, γH2AX, caspase and TUNEL assays were then conducted on these lymphocytes after a genotoxic challenge by ionizing radiation or doxorubicin to assess the functional role of this VUS. The micronucleus and TUNEL assays revealed a lower degree of DNA induced-damage in the VUS group compared with those without the VUS. The other assays showed no significant differences between the groups. These results suggested that this BRCA1 VUS is likely benign, since the VUS carriers were apparently protected from deleterious chromosomal rearrangements, subsequent genomic instability and activation of apoptosis. [ABSTRACT FROM AUTHOR]

Published
2023
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33. Evolution: Tracing the origins of centrioles, cilia, and flagella

Author

Carvalho-Santos, Zita, Azimzadeh, Juliette, Pereira-Leal, José B, and Bettencourt-Dias, Mónica

Subjects
Flagella, Animals, Humans, Cilia, Phylogeny, Centrioles
Abstract

This deposit is composed by the main article plus the supplementary materials of the publication. Centrioles/basal bodies (CBBs) are microtubule-based cylindrical organelles that nucleate the formation of centrosomes, cilia, and flagella. CBBs, cilia, and flagella are ancestral structures; they are present in all major eukaryotic groups. Despite the conservation of their core structure, there is variability in their architecture, function, and biogenesis. Recent genomic and functional studies have provided insight into the evolution of the structure and function of these organelles. Fundação Calouste Gulbenkian; Fundação para a Ciência e Tecnologia grants: (FCT, POCI2010, PTDC/BIA-BCM/73195/2006, PTDC/BIA-BCM/105602/2008); EMBO Installation grant. info:eu-repo/semantics/publishedVersion

Published
2011

34. Staphylococcus aureus Survives with a Minimal Peptidoglycan Synthesis Machine but Sacrifices Virulence and Antibiotic Resistance

Author

Reed, Patricia, primary, Atilano, Magda L., additional, Alves, Renato, additional, Hoiczyk, Egbert, additional, Sher, Xinwei, additional, Reichmann, Nathalie T., additional, Pereira, Pedro M., additional, Roemer, Terry, additional, Filipe, Sérgio R., additional, Pereira-Leal, José B., additional, Ligoxygakis, Petros, additional, and Pinho, Mariana G., additional

Published
2015
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38. A comprehensive assessment of the transcriptome of cork oak (Quercus suber) through EST sequencing

Author

Pereira-Leal, José B, primary, Abreu, Isabel A, additional, Alabaça, Cláudia S, additional, Almeida, Maria, additional, Almeida, Paulo, additional, Almeida, Tânia, additional, Amorim, Maria, additional, Araújo, Susana, additional, Azevedo, Herlânder, additional, Badia, Aleix, additional, Batista, Dora, additional, Bohn, Andreas, additional, Capote, Tiago, additional, Carrasquinho, Isabel, additional, Chaves, Inês, additional, Coelho, Ana, additional, Costa, Maria, additional, Costa, Rita, additional, Cravador, Alfredo, additional, Egas, Conceição, additional, Faro, Carlos, additional, Fortes, Ana M, additional, Fortunato, Ana S, additional, Gaspar, Maria, additional, Gonçalves, Sónia, additional, Graça, José, additional, Horta, Marília, additional, Inácio, Vera, additional, Leitão, José M, additional, Lino-Neto, Teresa, additional, Marum, Liliana, additional, Matos, José, additional, Mendonça, Diogo, additional, Miguel, Andreia, additional, Miguel, Célia M, additional, Morais-Cecílio, Leonor, additional, Neves, Isabel, additional, Nóbrega, Filomena, additional, Oliveira, Maria, additional, Oliveira, Rute, additional, Pais, Maria, additional, Paiva, Jorge A, additional, Paulo, Octávio S, additional, Pinheiro, Miguel, additional, Raimundo, João AP, additional, Ramalho, José C, additional, Ribeiro, Ana I, additional, Ribeiro, Teresa, additional, Rocheta, Margarida, additional, Rodrigues, Ana, additional, Rodrigues, José C, additional, Saibo, Nelson JM, additional, Santo, Tatiana E, additional, Santos, Ana, additional, Sá-Pereira, Paula, additional, Sebastiana, Mónica, additional, Simões, Fernanda, additional, Sobral, Rómulo S, additional, Tavares, Rui, additional, Teixeira, Rita, additional, Varela, Carolina, additional, Veloso, Maria, additional, and Ricardo, Cândido PP, additional

Published
2014
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41. Genome of a Gut Strain of Bacillus subtilis

Author

Schyns, Ghislain, primary, Serra, Cláudia R., additional, Lapointe, Thomas, additional, Pereira-Leal, José B., additional, Potot, Sébastien, additional, Fickers, Patrick, additional, Perkins, John B., additional, Wyss, Markus, additional, and Henriques, Adriano O., additional

Published
2013
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