Publications by authors named "Javier Martinez-Lopez"

Erdheim-Chester Disease (ECD) is a rare histiocytosis characterized by a wide spectrum of clinical manifestations. Although somatic mutations have been involved in ECD, its etiology remains poorly understood. This study aimed to identify novel molecular mechanisms involved in ECD through the first integrated methylome and transcriptome analysis.

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Article Synopsis
  • The study investigates how non-genetic factors, especially epigenetics like DNA methylation, contribute to the development of Systemic Sclerosis (SSc).
  • By analyzing DNA methylation data from 179 SSc patients and 241 healthy individuals, researchers identified 525 differentially methylated positions related to immune pathways, particularly those involving leukocyte adhesion.
  • The findings suggest that changes in DNA methylation impact gene expression and highlight the role of myeloid cells and specific transcription factors, opening up new avenues for potential clinical applications in treating SSc.
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Background: Diagnosis of colitis has been shown to impact morbidity and mortality in hospitalised horses. There are no studies to date that describe the incidence of infectious colitis after exploratory laparotomy.

Objectives: To investigate risk factors associated with the development of colitis and infectious colitis post-exploratory laparotomy.

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Article Synopsis
  • - The study investigates the genetic underpinnings of Erdheim-Chester disease (ECD), a rare condition characterized by abnormal immune cell activity, by conducting the first genome-wide association study to understand its inherited genetic factors.
  • - Researchers analyzed data from 255 ECD patients and 7,471 healthy individuals, identifying a significant genetic region (18q12.3) that could increase susceptibility to ECD, linked to the SETBP1 gene.
  • - The findings suggest that inherited genetic variants play a role in ECD development and point to new biological pathways that may contribute to the disease's progression.
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Sustaining ecosystem services (ES) critical to human well-being is hindered by many practitioners lacking access to ES models ("the capacity gap") or knowledge of the accuracy of available models ("the certainty gap"), especially in the world's poorer regions. We developed ensembles of multiple models at an unprecedented global scale for five ES of high policy relevance. Ensembles were 2 to 14% more accurate than individual models.

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In the Mediterranean arid region such as Southeast (SE) Spain, a considerable part of the fluvial network runs permanently dry. Here, many dry watercourses are embedded in catchments where agriculture has brought changes in carbon (C) and nitrogen (N) availability due to native riparian vegetation removal and the establishment of intensive agriculture. Despite their increasing scientific recognition and vulnerability, our knowledge about dry riverbeds biogeochemistry and environmental drivers is still limited, moreover for developing proper management plans at the whole catchment scale.

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Article Synopsis
  • Metabolic and cardiovascular diseases significantly impact global health, but advancements in genetics and technology are paving the way for new treatments.
  • The chapter emphasizes the CRISPR-Cas gene editing system while also exploring various online resources for conducting gene editing experiments.
  • It consolidates different gene editing strategies and tools with a focus on their potential applications in studying and treating metabolic and cardiovascular diseases.
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Objectives: rs76428106-C, a low frequency polymorphism that affects the splicing of the FLT3 gene, has recently been associated with several seropositive autoimmune diseases. Here, we aimed to evaluate the potential implication of rs76428106-C in the susceptibility to systemic sclerosis (SSc).

Methods: We analysed a total of 26 598 European ancestry individuals, 9063 SSc and 17 535 healthy controls, to test the association between FLT3 rs76428106-C and SSc and its different subphenotypes.

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Objective: To compare the prevalence of incisional complications after skin closure with n-butyl cyanoacrylate (NBC) or stainless-steel skin staples (SS) after ventral midline celiotomy for colic surgery in the horse.

Study Design: Retrospective study (2014-2018).

Animals: Two hundred eighteen horses.

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Many ecosystem services (ES) models exist to support sustainable development decisions. However, most ES studies use only a single modelling framework and, because of a lack of validation data, rarely assess model accuracy for the study area. In line with other research themes which have high model uncertainty, such as climate change, ensembles of ES models may better serve decision-makers by providing more robust and accurate estimates, as well as provide indications of uncertainty when validation data are not available.

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Green and Blue Infrastructure (GBI) is a network designed and planned to deliver a wide range of ecosystem services and to protect biodiversity. Existing GBI designs lacked a systematic method to allocate restoration zones. This study proposes a novel approach for systematically selecting cost-effective areas for restoration on the basis of biodiversity, ecosystem services, and ecosystem condition to give an optimal spatial design of GBI.

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The Baixo Vouga Lagunar (BVL) is part of Ria de Aveiro coastal lagoon in Portugal, which is classified as a Special Protection Area under the European Habitats and Birds Directives. This part of the system, corresponding to the confluence of the Vouga River with the lagoon, is very important culturally and socioeconomically for the local communities, taking place several human activities, especially agriculture. To prevent salt water intrusion from the Ria de Aveiro into agriculture fields, a floodbank was initiated in the 90's.

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Freshwater biodiversity is declining, despite national and international efforts to manage and protect freshwater ecosystems. Ecosystem-based management (EBM) has been proposed as an approach that could more efficiently and adaptively balance ecological and societal needs. However, this raises the question of how social and ecological objectives can be included in an integrated management plan.

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Large river-floodplain systems are hotspots of biodiversity and ecosystem services but are also used for multiple human activities, making them one of the most threatened ecosystems worldwide. There is wide evidence that reconnecting river channels with their floodplains is an effective measure to increase their multi-functionality, i.e.

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Scientists, stakeholders and decision makers face trade-offs between adopting simple or complex approaches when modeling ecosystem services (ES). Complex approaches may be time- and data-intensive, making them more challenging to implement and difficult to scale, but can produce more accurate and locally specific results. In contrast, simple approaches allow for faster assessments but may sacrifice accuracy and credibility.

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Ria de Aveiro represents a coastal territory, in which its natural capital, mostly classified under a Natura 2000 network of protected areas, is of paramount importance for the regional and national economy, supporting harbour activities and maritime traffic, agriculture, commercial fisheries, aquaculture, manufacturing, tourism, sports and recreational activities. Current and foreseen changes connected to human activities, namely land and water uses and potential conflicts, in frame of environmental policies, sustainable economic development and human well-being require the implementation of ecosystem-based management (EBM) planning processes considering the connectivity across marine, transitional, freshwater, and terrestrial domains. The main objective is to elaborate on the co-development of the EBM planning process across the three water domains, all characterized by high biodiversity and by the wide range of services provided by ecosystems and their abiotic components, for the mitigation of impacts from the management plan under implementation.

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Exceptions to the generality of the stress-gradient hypothesis (SGH) may be reconciled by considering species-specific traits and stress tolerance strategies. Studies have tested stress tolerance and competitive ability in mediating interaction outcomes, but few have incorporated this to predict how species interactions shift between competition and facilitation along stress gradients. We used field surveys, salt tolerance and competition experiments to develop a predictive model interspecific interaction shifts across salinity stress gradients.

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This research aimed at investigating circadian rhythm expression of key genes involved in lipid metabolism in the liver of a teleost fish (Sparus aurata), and their synchronisation to different light-dark (L-D) and feeding cycles. To this end, 90 gilthead sea bream were kept in 12:12 h (light:dark, LD, lights on at ZT0) and fed a single daily meal at mid-light (ML = ZT6), mid-darkness (MD = ZT18) and randomly (RD) at a 1.5% body weight ration.

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