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Sökning: WFRF:(Gomez Martinez Diana)

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1.
  • Bernal, Ximena E., et al. (författare)
  • Empowering Latina scientists
  • 2019
  • Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 363:6429, s. 825-826
  • Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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2.
  • Aguiar, Diana, et al. (författare)
  • Transforming critical agrarian studies: : Solidarity, scholar-activism and emancipatory agendas in and from the Global South
  • 2023
  • Ingår i: Journal of Peasant Studies. - 0306-6150. ; 50:2, s. 758-786
  • Tidskriftsartikel (refereegranskat)abstract
    • This paper examines the challenges and opportunities faced bycritical agrarian scholars in and from the Global South. We arguethat despite the historical and structural limitations, the criticaljuncture of convergence of crises and renewed interest inagrarian political economies offers an opportunity for fostering adiverse research agenda that opens space for critical perspectivesabout, from and by the Global South, which is mostly absent inmainstream scholarship dominated by the Global North. We alsopropose doing so by enhancing solidarity to transform injusticeswithin academia and other spaces of knowledge production anddissemination. To develop the argument,first, we reflect on themultiplicity of crises in rural areas and the changing character ofsocial struggles, as well as the interlinkages betweenenvironmental crises and the re-emergence of critical agrarianstudies that are reshaping the agrarian question. Then, we discussthe implications and conditions of the political agenda carriedout by a scholar-activist movement working on agrarian studiesfrom the Global South. Drawing on our experience as theCollective of Agrarian Scholar-Activists from the South (CASAS),we conclude by proposing three ways forward for enhancingsolidarity through networks of scholar-activists: knowledgeaccessibility, cooperative organization, and co-production ofknowledge
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3.
  • Axfors, Cathrine, et al. (författare)
  • Association between convalescent plasma treatment and mortality in COVID-19 : a collaborative systematic review and meta-analysis of randomized clinical trials
  • 2021
  • Ingår i: BMC Infectious Diseases. - : BioMed Central (BMC). - 1471-2334. ; 21:1
  • Forskningsöversikt (refereegranskat)abstract
    • Background: Convalescent plasma has been widely used to treat COVID-19 and is under investigation in numerous randomized clinical trials, but results are publicly available only for a small number of trials. The objective of this study was to assess the benefits of convalescent plasma treatment compared to placebo or no treatment and all-cause mortality in patients with COVID-19, using data from all available randomized clinical trials, including unpublished and ongoing trials (Open Science Framework, ). Methods: In this collaborative systematic review and meta-analysis, clinical trial registries (ClinicalTrials.gov, WHO International Clinical Trials Registry Platform), the Cochrane COVID-19 register, the LOVE database, and PubMed were searched until April 8, 2021. Investigators of trials registered by March 1, 2021, without published results were contacted via email. Eligible were ongoing, discontinued and completed randomized clinical trials that compared convalescent plasma with placebo or no treatment in COVID-19 patients, regardless of setting or treatment schedule. Aggregated mortality data were extracted from publications or provided by investigators of unpublished trials and combined using the Hartung-Knapp-Sidik-Jonkman random effects model. We investigated the contribution of unpublished trials to the overall evidence. Results: A total of 16,477 patients were included in 33 trials (20 unpublished with 3190 patients, 13 published with 13,287 patients). 32 trials enrolled only hospitalized patients (including 3 with only intensive care unit patients). Risk of bias was low for 29/33 trials. Of 8495 patients who received convalescent plasma, 1997 died (23%), and of 7982 control patients, 1952 died (24%). The combined risk ratio for all-cause mortality was 0.97 (95% confidence interval: 0.92; 1.02) with between-study heterogeneity not beyond chance (I-2 = 0%). The RECOVERY trial had 69.8% and the unpublished evidence 25.3% of the weight in the meta-analysis. Conclusions: Convalescent plasma treatment of patients with COVID-19 did not reduce all-cause mortality. These results provide strong evidence that convalescent plasma treatment for patients with COVID-19 should not be used outside of randomized trials. Evidence synthesis from collaborations among trial investigators can inform both evidence generation and evidence application in patient care.
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4.
  • Concepcion Gil-Rodriguez, Maria, et al. (författare)
  • De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes
  • 2015
  • Ingår i: Human Mutation. - : Wiley: 12 months. - 1059-7794 .- 1098-1004. ; 36:4, s. 454-462
  • Tidskriftsartikel (refereegranskat)abstract
    • Cornelia de Lange syndrome (CdLS) is characterized by facial dysmorphism, growth failure, intellectual disability, limb malformations, and multiple organ involvement. Mutations in five genes, encoding subunits of the cohesin complex (SMC1A, SMC3, RAD21) and its regulators (NIPBL, HDAC8), account for at least 70% of patients with CdLS or CdLS-like phenotypes. To date, only the clinical features from a single CdLS patient with SMC3 mutation has been published. Here, we report the efforts of an international research and clinical collaboration to provide clinical comparison of 16 patients with CdLS-like features caused by mutations in SMC3. Modeling of the mutation effects on protein structure suggests a dominant-negative effect on the multimeric cohesin complex. When compared with typical CdLS, many SMC3-associated phenotypes are also characterized by postnatal microcephaly but with a less distinctive craniofacial appearance, a milder prenatal growth retardation that worsens in childhood, few congenital heart defects, and an absence of limb deficiencies. While most mutations are unique, two unrelated affected individuals shared the same mutation but presented with different phenotypes. This work confirms that de novo SMC3 mutations account for approximate to 1%-2% of CdLS-like phenotypes.
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5.
  • Gómez-Heincke, Diana, et al. (författare)
  • Improvement of mechanical and water absorption properties of plant protein based bioplastics
  • 2017
  • Ingår i: Food Hydrocolloids. - : Elsevier BV. - 0268-005X .- 1873-7137. ; 73, s. 21-29
  • Tidskriftsartikel (refereegranskat)abstract
    • Bioplastics deriving from plant proteins are becoming an increasingly popular source of raw material for plastic products since they are not only biodegradable but renewable resources. However, these bioplastics require improved mechanical and water absorption properties to be suitable for many applications, such as packaging. For this reason, this study considers potato and rice proteins as a new source for the manufacture of bioplastics. The proteins were mixed with different glycerol concentrations followed by thermomoulding at temperatures from 60 to 180 °C. The resulting bioplastic is characterized in terms of thermo-mechanical properties, water absorption and molecular weight distribution. Compared to well-known wheat gluten, these bioplastics required higher temperatures for their thermomoulding. However, both of them were more structured materials and exhibited less water absorption (e.g. as low as 9 wt.%) than those obtained for wheat gluten blend. Potato protein-based bioplastics showed complex modulus values comparable to synthetic polymers such as Low Density Polyethylene (LDPE).
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8.
  • Gomez-Martinez, Diana, et al. (författare)
  • Viscoelasticity and microstructure of a hierarchical soft composite based on nano-cellulose and kappa-carrageenan
  • 2013
  • Ingår i: Rheologica Acta. - : Springer Science and Business Media LLC. - 1435-1528 .- 0035-4511. ; 52:10-12, s. 823-831
  • Tidskriftsartikel (refereegranskat)abstract
    • Soft composites consisting of kappa-carrageenan gel interspersed with nano-cellulose were produced mimicking soft material structures. Microfibrillar cellulose (MFC) with a broad distribution of nano-fibre lengths was used as well as nano-crystalline cellulose (NCC) consisting of 20-nm nano-rods. The nano-fibre concentration, as well as the potassium ion concentration, was varied. The composites were characterized by rheology and light and electron microscopy. The incorporation of NCC into the carrageenan gel led to significant stiffening, and a sharp peak in the storage modulus occurred during gelation. This peak was not observed with MFC, which produced softer composites. An increase in the potassium concentration generally led to a more aggregated carrageenan structure with coarser network strands and increased modulus. By choosing suitable amount of nano-fibres and potassium concentration, soft composites with tailored properties could be produced.
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9.
  • Osorio, Ana, et al. (författare)
  • DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
  • 2014
  • Ingår i: PLoS Genetics. - : Public Library of Science (PLoS). - 1553-7404. ; 10:4
  • Tidskriftsartikel (refereegranskat)abstract
    • Single Nucleotide Polymorphisms (SNPs) in genes involved in the DNA Base Excision Repair (BER) pathway could be associated with cancer risk in carriers of mutations in the high-penetrance susceptibility genes BRCA1 and BRCA2, given the relation of synthetic lethality that exists between one of the components of the BER pathway, PARP1 (poly ADP ribose polymerase), and both BRCA1 and BRCA2. In the present study, we have performed a comprehensive analysis of 18 genes involved in BER using a tagging SNP approach in a large series of BRCA1 and BRCA2 mutation carriers. 144 SNPs were analyzed in a two stage study involving 23,463 carriers from the CIMBA consortium (the Consortium of Investigators of Modifiers of BRCA1 and BRCA2). Eleven SNPs showed evidence of association with breast and/or ovarian cancer at p<0.05 in the combined analysis. Four of the five genes for which strongest evidence of association was observed were DNA glycosylases. The strongest evidence was for rs1466785 in the NEIL2 (endonuclease VIII-like 2) gene (HR: 1.09, 95% CI (1.03-1.16), p = 2.7×10-3) for association with breast cancer risk in BRCA2 mutation carriers, and rs2304277 in the OGG1 (8-guanine DNA glycosylase) gene, with ovarian cancer risk in BRCA1 mutation carriers (HR: 1.12 95%CI: 1.03-1.21, p = 4.8×10-3). DNA glycosylases involved in the first steps of the BER pathway may be associated with cancer risk in BRCA1/2 mutation carriers and should be more comprehensively studied.
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10.
  • Zanti, Maria, et al. (författare)
  • A Likelihood Ratio Approach for Utilizing Case-Control Data in the Clinical Classification of Rare Sequence Variants : Application to BRCA1 and BRCA2
  • 2023
  • Ingår i: Human Mutation. - : John Wiley & Sons. - 1059-7794 .- 1098-1004. ; 2023
  • Tidskriftsartikel (refereegranskat)abstract
    • A large number of variants identified through clinical genetic testing in disease susceptibility genes are of uncertain significance (VUS). Following the recommendations of the American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP), the frequency in case-control datasets (PS4 criterion) can inform their interpretation. We present a novel case-control likelihood ratio-based method that incorporates gene-specific age-related penetrance. We demonstrate the utility of this method in the analysis of simulated and real datasets. In the analysis of simulated data, the likelihood ratio method was more powerful compared to other methods. Likelihood ratios were calculated for a case-control dataset of BRCA1 and BRCA2 variants from the Breast Cancer Association Consortium (BCAC) and compared with logistic regression results. A larger number of variants reached evidence in favor of pathogenicity, and a substantial number of variants had evidence against pathogenicity-findings that would not have been reached using other case-control analysis methods. Our novel method provides greater power to classify rare variants compared with classical case-control methods. As an initiative from the ENIGMA Analytical Working Group, we provide user-friendly scripts and preformatted Excel calculators for implementation of the method for rare variants in BRCA1, BRCA2, and other high-risk genes with known penetrance.
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