Publications by authors named "Joana Xavier"

Sponges are key ecosystem engineers that shape, structure and enhance the biodiversity of marine benthic communities globally. Sponge aggregations and reefs are recognized as vulnerable marine ecosystems (or VMEs) due to their susceptibility to damage from bottom-contact fishing gears. Ensuring their long-term sustainability, preservation, and ecosystem functions requires the implementation of sound scientific conservation tools.

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The mesophotic zone represents one of our planet's largest and least explored biomes. An increasing number of studies evidence the importance of macrofouling species in marine ecosystems, but information on these communities and the factors influencing their structures at mesophotic depths remain poor. This lack of understanding limits our ability to predict anthropogenic impacts or conduct restoration operations in the mesophotic and the lower boundary of the euphotic zones.

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Article Synopsis
  • The study develops a new method to identify genetic variants that increase breast cancer risk by focusing on variants in gene regulatory regions, using genome-wide association studies (GWAS) as a basis.
  • Through analysis of microarray data from normal breast tissue, the researchers identified over 54,000 differential allelic expression QTLs (daeQTLs) linked to breast cancer risk, mapping these to relevant genes and loci.
  • The findings highlight the connection between risk-related genetic variants and gene expression regulation, identifying candidate causal variants at the 5q14.1 locus that may influence breast cancer risk through alternative transcription mechanisms.
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Genome-wide association studies (GWASs) have revealed numerous loci associated with breast cancer risk, yet the precise causal variants, their impact on molecular mechanisms, and the affected genes often remain elusive. We hypothesised that specific variants exert their influence by affecting cis-regulatory alternative splice elements. An analysis of splicing quantitative trait loci (sQTL) in healthy breast tissue from female individuals identified multiple variants linked to alterations in splicing ratios.

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Summary: Catalytic reaction networks serve as fundamental models for understanding biochemical systems. CatReNet is a novel software designed to facilitate interactive analysis of such networks. It offers fast and exact algorithms for computing various types of self-sustaining autocatalytic subnetworks, including so-called CAFs (constructively autocatalytic food-generated networks), RAFs (reflexively autocatalytic food-generated networks), and pseudo-RAFs.

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The concept of an autocatalytic network of reactions that can form and persist, starting from just an available food source, has been formalized by the notion of a reflexively autocatalytic and food-generated (RAF) set. The theory and algorithmic results concerning RAFs have been applied to a range of settings, from metabolic questions arising at the origin of life, to ecological networks, and cognitive models in cultural evolution. In this article, we present new structural and algorithmic results concerning RAF sets, by studying more complex modes of catalysis that allow certain reactions to require multiple catalysts (or to not require catalysis at all), and discuss the differing ways catalysis has been viewed in the literature.

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Management of deep-sea fisheries in areas beyond national jurisdiction by Regional Fisheries Management Organizations/Arrangements (RFMO/As) requires identification of areas with Vulnerable Marine Ecosystems (VMEs). Currently, fisheries data, including trawl and longline bycatch data, are used by many RFMO/As to inform the identification of VMEs. However, the collection of such data creates impacts and there is a need to collect non-invasive data for VME identification and monitoring purposes.

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Introduction: The aim of this study was to compare the effectiveness of a combined misoprostol-Foley catheter induction of labor protocol against the current guidelines of our department.

Material And Methods: A randomized trial was conducted comparing two cervical ripening study groups: combined misoprostol-cervical Foley and the current department practice (misoprostol alone or dinoprostone alone). Women were stratified randomly according to parity for the two intervention groups.

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Industrial deep-sea mining will release plumes containing metals that may disperse over long distances; however, there is no general understanding of metal effects on marine ecosystems. Thus, we conducted a systematic review in search of models of metal effects on aquatic biota with the future perspective to support Environmental Risk Assessment (ERA) of deep-sea mining. According to results, the use of models to study metal effects is strongly biased towards freshwater species (83% freshwater versus 14% marine); Cu, Hg, Al, Ni, Pb, Cd and Zn are the best-studied metals, and most studies target few species rather than entire food webs.

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Background: Cardiovascular diseases are still a significant cause of death and hospitalization. In 2019, circulatory diseases were responsible for 29.9% of deaths in Portugal.

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Objective: This study aimed to analyze which clinical characteristics are associated with recurrence and progression of vulvar high-grade squamous intraepithelial lesion (vHSIL).

Materials And Methods: This was a retrospective cohort study, including all women with vHSIL followed in 1 center between 2009 and 2021. Women with a concomitant diagnosis of invasive vulvar cancer were excluded.

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In the deep ocean symbioses between microbes and invertebrates are emerging as key drivers of ecosystem health and services. We present a large-scale analysis of microbial diversity in deep-sea sponges (Porifera) from scales of sponge individuals to ocean basins, covering 52 locations, 1077 host individuals translating into 169 sponge species (including understudied glass sponges), and 469 reference samples, collected anew during 21 ship-based expeditions. We demonstrate the impacts of the sponge microbial abundance status, geographic distance, sponge phylogeny, and the physical-biogeochemical environment as drivers of microbiome composition, in descending order of relevance.

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A closer look at Wilhelm Ostwald's articles that originally proposed the concept of autocatalysis reveals that he accepted reactants, not just products, as potential autocatalysts. Therefore, that a process is catalyzed by some of its products, which is the common definition of autocatalysis, is only a proper subset of what Ostwald meant by "Autokatalyse." As a result, it is necessary to reconsider the definition of autocatalysis, which is especially important for origins-of-life research because autocatalysis provides an abiotic mechanism that yields reproduction-like dynamics.

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Introduction: Translation of genome-wide association study (GWAS) findings into preventive approaches is challenged by the identification of the causal risk variants and the understanding of the biological mechanisms by which they act. We present using allelic expression (AE) ratios to perform quantitative case-control analysis as a novel approach to identify risk associations, causal regulatory variants, and target genes.

Methods: Using the breast cancer (BC) risk locus 17q22 to validate this approach, we measured AE ratios in normal breast tissue samples from controls and cases, as well as from unmatched blood samples.

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The Ægir Ridge System (ARS) is an ancient extinct spreading axis in the Nordic seas extending from the upper slope east of Iceland (∼550 m depth), as part of its Exclusive Economic Zone (EEZ), to a depth of ∼3,800 m in the Norwegian basin. Geomorphologically a rift valley, the ARS has a canyon-like structure that may promote increased diversity and faunal density. The main objective of this study was to characterize benthic habitats and related macro- and megabenthic communities along the ARS, and the influence of water mass variables and depth on them.

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PIK3CA 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.

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Life and the genetic code are self-referential and so are autocatalytic networks made of simpler, small molecules. Several origins of life theories postulate autocatalytic chemical networks preceding the primordial genetic code, yet demonstration with biochemical systems is lacking. Here, small-molecule reflexively autocatalytic food-generated networks (RAFs) ranging in size from 3 to 619 reactions were found in all of 6683 prokaryotic metabolic networks searched.

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Sponges are amongst the most difficult benthic taxa to properly identify, which has led to a prevalence of cryptic species in several sponge genera, especially in those with simple skeletons. This is particularly true for sponges living in remote or hardly accessible environments, such as the deep-sea, as the inaccessibility of their habitat and the lack of accurate descriptions usually leads to misclassifications. However, species can also remain hidden even when they belong to genera that have particularly characteristic features.

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Though all theories for the origin of life require a source of energy to promote primordial chemical reactions, the nature of energy that drove the emergence of metabolism at origins is still debated. We reasoned that evidence for the nature of energy at origins should be preserved in the biochemical reactions of life itself, whereby changes in free energy, Δ, which determine whether a reaction can go forward or not, should help specify the source. By calculating values of Δ across the conserved and universal core of 402 individual reactions that synthesize amino acids, nucleotides and cofactors from H, CO, NH, HS and phosphate in modern cells, we find that 95-97% of these reactions are exergonic (Δ ≤ 0 kJ⋅mol) at pH 7-10 and 80-100°C under nonequilibrium conditions with H replacing biochemical reductants.

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Introduction: The G-spot, a putative erogenous area in the anterior vaginal wall, is a widely accepted concept in the mainstream media, but controversial in medical literature.

Aim: Review of the scientific data concerning the existence, location, and size of the G-spot.

Methods: Search on Pubmed, Pubmed Central, Cochrane, clinicaltrials.

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Bacteria are the most abundant cells on Earth. They are generally regarded as ancient, but due to striking diversity in their metabolic capacities and widespread lateral gene transfer, the physiology of the first bacteria is unknown. From 1089 reference genomes of bacterial anaerobes, we identified 146 protein families that trace to the last bacterial common ancestor, LBCA, and form the conserved predicted core of its metabolic network, which requires only nine genes to encompass all universal metabolites.

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The last eukaryote common ancestor (LECA) possessed mitochondria and all key traits that make eukaryotic cells more complex than their prokaryotic ancestors, yet the timing of mitochondrial acquisition and the role of mitochondria in the origin of eukaryote complexity remain debated. Here, we report evidence from gene duplications in LECA indicating an early origin of mitochondria. Among 163,545 duplications in 24,571 gene trees spanning 150 sequenced eukaryotic genomes, we identify 713 gene duplication events that occurred in LECA.

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The available data on trace elements (TE) of deep-sea organisms is scarce and nonexistent for rare earth elements (REE). Hence, this study characterizes REE and TE in five porifera genera (Jaspis, Geodia, Hamacantha, Leiodermatium, Poliopogon) collected in deep-sea areas (between 481 and 2656 m) of the North Atlantic. Aluminium was the most common TE while lead was the less abundant.

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