20 research outputs found

    Phytoplankton dynamics in relation to seasonal variability and upwelling and relaxation patterns at the mouth of Ria de Aveiro (West Iberian Margin) over a four-year period

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    From June 2004 to December 2007, samples were weekly collected at a fixed station located at the mouth of Ria de Aveiro (West Iberian Margin). We examined the seasonal and inter-annual fluctuations in composition and community structure of the phytoplankton in relation to the main environmental drivers and assessed the influence of the oceano-graphic regime, namely changes in frequency and intensity of upwelling events, over the dynamics of the phytoplankton assemblage. The samples were consistently handled and a final subset of 136 OTUs (taxa with relative abundance > 0.01%) was subsequently submitted to various multivariate analyses. The phytoplankton assemblage showed significant changes at all temporal scales but with an overriding importance of seasonality over longer-(inter-annual) or shorter-term fluctuations (upwelling-related). Sea-surface temperature, salinity and maximum upwelling index were retrieved as the main driver of seasonal change. Seasonal signal was most evident in the fluctuations of chlorophyll a concentration and in the high turnover from the winter to spring phytoplankton assemblage. The seasonal cycle of production and succession was disturbed by upwelling events known to disrupt thermal stratification and induce changes in the phytoplankton assemblage. Our results indicate that both the frequency and intensity of physical forcing were important drivers of such variability, but the outcome in terms of species composition was highly dependent on the available local pool of species and the timing of those events in relation to the seasonal cycle. We conclude that duration, frequency and intensity of upwelling events, which vary seasonally and inter-annually, are paramount for maintaining long-term phytoplankton diversity likely by allowing unstable coexistence and incorporating species turnover at different scales. Our results contribute to the understanding of the complex mechanisms of coastal phytoplankton dynamics in relation to changing physical forcing which is fundamental to improve predictability of future prospects under climate change.Portuguese Foundation for Science and Technology (FCT, Portugal) [SFRH/BPD/ 94562/2013]; FEDER funds; national funds; CESAM [UID/AMB/50017]; FCT/MEC through national funds; FEDERinfo:eu-repo/semantics/publishedVersio

    The state of the Martian climate

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    60°N was +2.0°C, relative to the 1981–2010 average value (Fig. 5.1). This marks a new high for the record. The average annual surface air temperature (SAT) anomaly for 2016 for land stations north of starting in 1900, and is a significant increase over the previous highest value of +1.2°C, which was observed in 2007, 2011, and 2015. Average global annual temperatures also showed record values in 2015 and 2016. Currently, the Arctic is warming at more than twice the rate of lower latitudes

    Abiotic Input of Fixed Nitrogen by Bolide Impacts to Gale Crater During the Hesperian : Insights From the Mars Science Laboratory

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    We acknowledge the NASA Mars Science Laboratory Program, Centre National d'Études Spatiales, the Universidad Nacional Autónoma de México (PAPIIT IN109416, IN111619, and PAPIME PE103216), and the Consejo Nacional de Ciencia y Tecnología de México (CONACyT 220626) for their support. We thank Fred Calef for constructing Figure 4 and appreciate the interest and support received from John P. Grotzinger and Joy A. Crisp throughout the Curiosity mission. The authors are grateful to the SAM and MSL teams for successful operation of the SAM instrument and the Curiosity rover. The data used in this paper are listed in the supporting information, figures, and references. SAM Data contained in this paper are publicly available through the NASA Planetary Data System at http://pds‐geosciences.wustl.edu/missions/msl/sam.htm. We would like to express gratitude to Pierre‐Yves Meslin from the Research Institute in Astrophysics and Planetology at Toulouse, France, and five anonymous reviewers whose comments/suggestions on earlier drafts helped improve and clarify this manuscript. The authors declare no conflicts of interests.Peer reviewedPublisher PD

    A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.

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    Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with BRCA1 or BRCA2 mutations. We identify robust novel associations for 2 variants with BC for BRCA1 and 3 for BRCA2 mutation carriers, P < 10-8, at 5 loci, which are not associated with risk in the general population. They include rs60882887 at 11p11.2 where MADD, SP11 and EIF1, genes previously implicated in BC biology, are predicted as potential targets. These findings will contribute towards customising BC polygenic risk scores for BRCA1 and BRCA2 mutation carriers

    The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

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    Abstract: Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been proposed as a breast cancer predisposition gene, with greater effects for the ER-negative and triple-negative breast cancer (TNBC) subtypes. We tested the three recurrent protein-truncating variants FANCM:p.Arg658*, p.Gln1701*, and p.Arg1931* for association with breast cancer risk in 67,112 cases, 53,766 controls, and 26,662 carriers of pathogenic variants of BRCA1 or BRCA2. These three variants were also studied functionally by measuring survival and chromosome fragility in FANCM−/− patient-derived immortalized fibroblasts treated with diepoxybutane or olaparib. We observed that FANCM:p.Arg658* was associated with increased risk of ER-negative disease and TNBC (OR = 2.44, P = 0.034 and OR = 3.79; P = 0.009, respectively). In a country-restricted analysis, we confirmed the associations detected for FANCM:p.Arg658* and found that also FANCM:p.Arg1931* was associated with ER-negative breast cancer risk (OR = 1.96; P = 0.006). The functional results indicated that all three variants were deleterious affecting cell survival and chromosome stability with FANCM:p.Arg658* causing more severe phenotypes. In conclusion, we confirmed that the two rare FANCM deleterious variants p.Arg658* and p.Arg1931* are risk factors for ER-negative and TNBC subtypes. Overall our data suggest that the effect of truncating variants on breast cancer risk may depend on their position in the gene. Cell sensitivity to olaparib exposure, identifies a possible therapeutic option to treat FANCM-associated tumors

    A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

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    Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with BRCA1 or BRCA2 mutations. We identify robust novel associations for 2 variants with BC for BRCA1 and 3 for BRCA2 mutation carriers, P < 10−8, at 5 loci, which are not associated with risk in the general population. They include rs60882887 at 11p11.2 where MADD, SP11 and EIF1, genes previously implicated in BC biology, are predicted as potential targets. These findings will contribute towards customising BC polygenic risk scores for BRCA1 and BRCA2 mutation carriers

    Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.

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    A Correction to this paper has been published: https://doi.org/10.1038/s41467-021-23162-4

    A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

    Get PDF
    Abstract: Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with BRCA1 or BRCA2 mutations. We identify robust novel associations for 2 variants with BC for BRCA1 and 3 for BRCA2 mutation carriers, P < 10−8, at 5 loci, which are not associated with risk in the general population. They include rs60882887 at 11p11.2 where MADD, SP11 and EIF1, genes previously implicated in BC biology, are predicted as potential targets. These findings will contribute towards customising BC polygenic risk scores for BRCA1 and BRCA2 mutation carriers

    Disonancias del existir y del buen vivir: acerca del avance neoliberal y los desafíos de la nueva agenda en la pedagogía contemporánea / Dissonances of Existence and the living well: about the neoliberal advance and the new challenges of the new agenda i

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    This article discusses the advance of neoliberalism, understood as the political imposition of a certain global pattern of power that constantly requires that the “dominated and defeated gazes” of those groups that suffer the effects of exclusion, naturalize and even justify these impositions and policies as well. That is why we will address the concept of dissonances of Existence to describe the ways of social anguish generated by this political rationality. In this regard we will start with a sort of genealogical analysis relative to these forms of cultural, social and emotional diaspora, that threaten the “Good Living” (or Living Well) of our peoples. Planning hope from a located pedagogy, understood as a cultural policy that gives voice to the voiceless ones, will constitute the main aim for the new agenda of contemporary pedagogy.El presente artículo reflexionará en torno al avance del Neoliberalismo como búsqueda de imposición de un cierto patrón mundial de poder interesado en lograr (más allá de la acumulación de riquezas), que las “miradas vencidas”, “doblegadas” de aquellos colectivos y minorías que sufren sus efectos de exclusión, sean naturalizadas y hasta justificadas. De allí que planteamos el concepto de del existir para graficar los modos de angustia social generadas por aquella racionalidad política. Nuestro punto de partida será entonces llevar a cabo una suerte de análisis genealógico relativo a estas formas de cultural, social, afectiva pero fundamentalmente colectiva que atentan contra el buen-vivir de nuestros pueblos. Planificar la esperanza desde una Pedagogía situada, comprendida como política cultural y como instrumento de acción para hacer audibles las voces silenciadas, constituirá para nosotros el objetivo fundamental de la nueva agenda de la Pedagogía contemporánea

    Problemáticas disruptivas a través del tiempo: Breve genealogía “Ad libitum” sobre márgenes que manifestó la escuela. (Argentina, 1970-2010)

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    The aim of this paper is to address some educational issues regarding some school´s transformations that have irrupted into the scholar field on this specially chosen conjuncture from our Recently History. In order to do this, we will be interested in asking which kind of educational problematics have effectively taken place at school and have also operated as a sort of “before and after” starting point for re thinking daily life at school and the teaching training as well.El presente trabajo intentará dar cuenta de un recorrido específicamente  orientado a identificar cómo la escuela, institución histórica de certidumbre, necesitó repensarse a sí misma a partir de los nuevos embates provenientes de diversas esferas de la coyuntura a lo largo del tiempo. En este sentido, hemos considerado el universo de representaciones –y de transformaciones– sociales, políticas y educativas las cuales, efectivamente, irrumpieron abruptamente en el campo de lo escolar en diferentes periodizaciones de nuestra historia reciente. De esta manera nos interesará fundamentalmente tratar de indagar en torno a cómo se configuraron aquel conjunto de problemáticas inéditas “límites” que significaron, para la escuela, violentar sus propios márgenes de manifestación social, privada y de política pública. Lo anterior, con el fin de no solo permitirnos trazar “un antes y un después” en lo relativo a las formas de habitar la vida escolar, sino, a su vez, intentar (re) conocer los circuitos implícitos y explícitos, formales e informales de sus modos  de manifestación o re-traducción en nuevos umbrales de racionalidad y de reflexión institucional
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