12 documents found, page 1 of 2
Coding and non-coding RNA expression in NSC34 cells following TDP-43 depletion ...
Gbadamosi, Ismail; Binias, Sandra; Gielniewski, Bartłomiej; Magno, Ramiro; dos Santos Duarte, Guilhermina Isabel; Jawaid, AliSeveral neurodegenerative disorders (NDDs), notably amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are characterized by pathological cytoplasmic aggregation of TAR DNA-binding protein 43 (TDP-43) in neurons and glia. Primarily localized in the nucleus under physiological conditions, TDP-43 is a critical regulator of RNA processing and metabolism. Therefore, RNA changes induced ...
Tour operators as a tool to improve information on data‐deficient cetacean species
Peres dos Santos, Rui Pedro; Rodríguez, Yasmina; Sears, Richard; Magno, Ramiro; Castilho, RitaUnderstanding the distribution and behaviour of species is crucial for ecosystem assessment and economic evaluations. Despite global research efforts, some cetacean species or populations remain data deficient. False killer whales (Pseudorca crassidens) are among these species, possibly due to their pelagic behaviour and high mobility. This study focused on the Azorean Archipelago, an ecologically rich region i...
Spatio-temporal dynamics of early somite segmentation in the chicken embryo
Maia-Fernandes, Ana C; Martins, Ana; Martins, Nísia Borralho; Pais de Azevedo, Tomás; Magno, Ramiro; dos Santos Duarte, Guilhermina IsabelDuring vertebrate embryo development, the body is progressively segmented along the anterior-posterior (A-P) axis early in development. The rate of somite formation is controlled by the somitogenesis embryo clock (EC), which was first described as gene expression oscillations of hairy1 (hes4) in the presomitic mesoderm of chick embryos with 15-20 somites. Here, the EC displays the same periodicity as somite for...
Spatio-temporal dynamics of early somite segmentation in the chicken embryo
Ana Martins-Jesus; Borralho-Martins, Nísia; Tomás Pais-de-Azevedo; Magno, Ramiro; Maia-Fernandes, Ana C; Martins, Nísia Borralho; Pais de Azevedo, TomásDuring vertebrate embryo development, the body is progressively segmented along the anterior-posterior (A-P) axis early in development. The rate of somite formation is controlled by the somitogenesis embryo clock (EC), which was first described as gene expression oscillations of hairy1 (hes4) in the presomitic mesoderm of chick embryos with 15–20 somites. Here, the EC displays the same periodicity as somite for...
Identification of candidate causal variants and target genes at 41 breast cance...
Gonçalves de Gouveia Maia Xavier, Joana; Magno, Ramiro; Russell, Roslin; Almeida, Bernardo P. de; Jacinta-Fernandes, Ana; Duarte, AndréUnderstanding breast cancer genetic risk relies on identifying causal variants and candidate target genes in risk loci identified by genome-wide association studies (GWAS), which remains challenging. Since most loci fall in active gene regulatory regions, we developed a novel approach facilitated by pinpointing the variants with greater regulatory potential in the disease’s tissue of origin. Through genome-wide...
An approach to map and quantify the fishing effort of polyvalent passive gear f...
Sales Henriques, Nuno; Russo, Tommaso; Bentes, Luis; Monteiro, Pedro; Parisi, Antonio; Magno, Ramiro; Oliveira, Frederico; Erzini, KarimThe use of tracking devices, such as vessel monitoring systems or automatic identification system, enabled us to expand our knowledge on the distribution and quantification of fishing activities. However, methods and models based on vessel tracking data are mostly devised to be applied to towed gears, whereas applications to multi-gear and passive fisheries have been underrepresented. Here, we propose a methodo...
Quincunx: an R package to query, download and wrangle PGS catalog data
Magno, Ramiro; Duarte, Isabel; Maia, Ana-TeresaFor two decades, GWAS identified individual variants associated with risk for complex diseases. These associations can be combined into polygenic scores (PGS) aiming at quantifying an individual’s risk to disease, inform on prognosis and even treatment response (Lambert et al., 2019). Broadly, PGS use summary statistics produced by GWAS to calculate a weighted sum of trait-associated alleles carried by each ind...
Allelic expression imbalance of PIK3CA mutations is frequent in breast cancer a...
Correia, Lizelle; Magno, Ramiro; Xavier, JM; Almeida, Bernardo; Duarte, Isabel; Esteves, Filipa; Ghezzo, Marinella; Eldridge, Matthew; Sun, ChongPIK3CA mutations are the most common in breast cancer, particularly in the estrogen receptor-positive cohort, but the benefit of PI3K inhibitors has had limited success compared with approaches targeting other less common mutations. We found a frequent allelic expression imbalance between the missense mutant and wild-type PIK3CA alleles in breast tumors from the METABRIC (70.2%) and the TCGA (60.1%) projects. W...
Allele-specific miRNA-binding analysis identifies candidate target genes for br...
Jacinta-Fernandes, Ana; Xavier, Joana M.; Magno, Ramiro; Lage, Joel; Maia, Ana-TeresaMost breast cancer (BC) risk-associated single-nucleotide polymorphisms (raSNPs) identified in genome-wide association studies (GWAS) are believed to cis-regulate the expression of genes. We hypothesise that cis-regulatory variants contributing to disease risk may be affecting microRNA (miRNA) genes and/or miRNA binding. To test this, we adapted two miRNA-binding prediction algorithms-TargetScan and miRanda-to ...
Gwasrapidd: an R package to query, download and wrangle GWAS catalog data
Magno, Ramiro; Maia, Ana-TeresaThe National Human Genome Research Institute Catalog of Published Genome-Wide Association Studies (GWAS) Catalog has collected, curated and made available data from over 7100 studies. The recently developed GWAS Catalog representational state transfer (REST) application programming interface (API) is the only method allowing programmatic access to this resource.