506 research outputs found

    INTERACTIONS OF HORMONAL STEROIDS WITH NUCLEIC ACIDS, I. A SPECIFIC REQUIREMENT FOR GUANINE

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    Schools are open during the coronavirus outbreak but should I voluntarily keep my kids home anyway, if I can? We asked 5 experts

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    We asked five experts to answer the question: schools are staying open but should I voluntarily keep my kids home anyway, if I can

    Towards guidelines for informed consent for prospective stem cell research

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    Stem cell science is advancing at an unprecedented rate, with thousands of research papers being published every year and many clinical trials for a wide range of conditions underway as registered on ClinicalTrials.gov. This rapidly expanding and alluring field has brought with it ever more complex and multifaceted ethical issues, many of which require new guidelines, consent protocols and even change in legislation, since they do not fit comfortably in the existing bioethical regulations and protocols. Keeping up with the ethical implications of stem cell research is daunting to the expert and non-expert. We review the various types of stem cells and then focus on multipotent and pluripotent cell types, since it is these cell types that bring with them the greatest research and therapeutic potential, while concurrently delivering novel ethical conundrums. Certain key considerations are currently lacking and what is needed is how to obtain permission from individuals who donate their biological material for both scientific inquiry and eventually, for their potential therapeutic utility

    Spinocerebellar ataxia type 7 in South Africa: Epidemiology, pathogenesis and therapy

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    Disorders of the nervous system represent a significant proportion of the global burden of non-communicable diseases, due to the trend towards ageing populations. The Department (now Division) of Human Genetics at the University of Cape Town (UCT) has been involved in pioneering research into these diseases since the appointment of Prof. Peter Beighton as Head of Department in 1972. Beighton’s emphasis on understanding the genetic basis of disease laid the groundwork for investigations into several monogenic neurodegenerative conditions, including Huntington’s disease and the polyglutamine spinocerebellar ataxias (SCAs). In particular, SCA7, which occurs at an unusually high frequency in the South African (SA) population, was identified as a target for further research and therapeutic development. Beginning with early epidemiological surveys, the SCA7 project progressed to molecular genetics-based investigations, leading to the identification of a founder effect in the SA SCA7 patient population in the mid-2000s. Capitalising on the founder haplotype shared by many SCA7 patients, UCT researchers went on to develop the first population-specific gene-silencing approach for the disease. More recently, efforts have shifted to the development of a more accurate model to decipher the precise mechanisms of neurodegeneration, using induced pluripotent stem cells derived from SA SCA7 patients. In many ways, the SA SCA7 journey reflects the legacy and vision of Prof. Peter Beighton, and his efforts to establish world-class, collaborative research into diseases affecting the African continent.

    Contrasting influences of inundation and land use on the rate of floodplain restoration

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    This study examined the assisted natural restoration of native vegetation in an Australian floodplain wetland where flows were reinstated and the river was reconnected to the floodplain, following cessation of agricultural cultivation. Extant vegetation was surveyed three times during an inundation event at plots with different land‐use histories. Restoration rate was more influenced by past land use than long‐term inundation frequency and success decreased with antecedent land‐use intensity. Prolonged land‐use history (>3 years cultivation) restricted restoration success. Sites with longer cultivation histories tended to have fewer aquatic species, more terrestrial species and exotic species. For example, amphibious responders with floating leaves were found only in reference plots and less frequently in farmed treatment plots. In this scenario, increased persistence of exotics and dryland species suggested alternative trajectories. Fields with a short land‐use history (1–3 years of clearing and cultivation) resembled undisturbed floodplain communities, consistent with a ‘field of dreams’ hypothesis. Although river–floodplain reconnections can restore wetlands, legacy effects of past land use may limit the pace and outcomes of restoration.Australian Postgraduate AwardAustralian Research Council. Grant Number: DE120102221ARC Centre of Excellence for Environmental Decisions Australian Research Council Linkage Project. Grant Number: LP088416

    An assessment of the Jenkinson and Collison synoptic classification to a continental mid-latitude location

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    A weather-type catalogue based on the Jenkinson and Collison method was developed for an area in south-west Russia for the period 1961--2010. Gridded sea level pressure data was obtained from the National Centers for Environmental Prediction/National Center for Atmospheric Research (NCEP/NCAR) reanalysis. The resulting catalogue was analysed for frequency of individual types and groups of weather types to characterise long-term atmospheric circulation in this region. Overall, the most frequent type is anticyclonic (A) (23.3 {%}) followed by cyclonic (C) (11.9 {%}); however, there are some key seasonal patterns with westerly circulation being significantly more common in winter than summer. The utility of this synoptic classification is evaluated by modelling daily rainfall amounts. A low level of error is found using a simple model based on the prevailing weather type. Finally, characteristics of the circulation classification are compared to those for the original JC British Isles catalogue and a much more equal distribution of flow types is seen in the former classification

    LONG-RUN PERSISTENCE IN RESERVOIR INFLOWS: EMPIRICAL MODE DECOMPOSITION IN SYDNEY AND MELBOURNE

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    ABSTRACT This paper quantifies long-run hydrological persistence in reservoir inflows to two regions: Melbourne and Sydney. We use a relatively new approach in hydrology, Empirical Mode Decomposition (EMD). Our three key results are summarised below: (1) For Melbourne and Sydney inflows, 57-66% of total variance was accounted for by periodicities <10 years; 20-21% of total variance was attributable to periodicities >10 years; and 14-22

    Towards a fair comparison of statistical and dynamical downscaling in the framework of the EURO-CORDEX initiative

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    Both statistical and dynamical downscaling methods are well established techniques to bridge the gap between the coarse information produced by global circulation models and the regional-to-local scales required by the climate change Impacts, Adaptation, and Vulnerability (IAV) communities. A number of studies have analyzed the relative merits of each technique by inter-comparing their performance in reproducing the observed climate, as given by a number of climatic indices (e.g. mean values, percentiles, spells). However, in this paper we stress that fair comparisons should be based on indices that are not affected by the calibration towards the observed climate used for some of the methods. We focus on precipitation (over continental Spain) and consider the output of eight Regional Climate Models (RCMs) from the EURO-CORDEX initiative at 0.44? resolution and five Statistical Downscaling Methods (SDMs) ?analog resampling, weather typing and generalized linear models? trained using the Spain044 observational gridded dataset on exactly the same RCM grid. The performance of these models is inter-compared in terms of several standard indices ?mean precipitation, 90th percentile on wet days, maximum precipitation amount and maximum number of consecutive dry days? taking into account the parameters involved in the SDM training phase. It is shown, that not only the directly affected indices should be carefully analyzed, but also those indirectly influenced (e.g. percentile-based indices for precipitation) which are more difficult to identify. We also analyze how simple transformations (e.g. linear scaling) could be applied to the outputs of the uncalibrated methods in order to put SDMs and RCMs on equal footing, and thus perform a fairer comparison.We acknowledge the World Climate Research Programme’s Working Group on Regional Climate, and theWorking Group on CoupledModelling, former coordinating body of CORDEX and responsible panel for CMIP5. We also thank the climate modeling groups (listed in Table 1 of this paper) for producing and making available their model output. We also acknowledge the Earth System Grid Federation infrastructure and AEMET and University of Cantabria for the Spain02 dataset (available at http: //www.meteo.unican.es/en/datasets/spain02). All the statistical downscaling experiments have been computed using theMeteoLab software (http://www.meteo.unican.es/software/meteolab), which is an open-source Matlab toolbox for statistical downscaling. This work has been partially supported by CORWES (CGL2010-22158-C02) and EXTREMBLES (CGL2010-21869) projects funded by the Spanish R&D programme. AC thanks the Spanish Ministry of Economy and Competitiveness for the funding provided within the FPI programme (BES-2011-047612 and EEBB-I-13-06354), JMG acknowledges the support from the SPECS project (FP7-ENV-2012-308378) and JF is grateful to the EUPORIAS project (FP7-ENV-2012-308291). We also thank three anonymous referees for their useful comments that helped to improve the original manuscript

    Foxf2: A Novel Locus for Anterior Segment Dysgenesis Adjacent to the Foxc1 Gene

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    Anterior segment dysgenesis (ASD) is characterised by an abnormal migration of neural crest cells or an aberrant differentiation of the mesenchymal cells during the formation of the eye's anterior segment. These abnormalities result in multiple tissue defects affecting the iris, cornea and drainage structures of the iridocorneal angle including the ciliary body, trabecular meshwork and Schlemm's canal. In some cases, abnormal ASD development leads to glaucoma, which is usually associated with increased intraocular pressure. Haploinsufficiency through mutation or chromosomal deletion of the human FOXC1 transcription factor gene or duplications of the 6p25 region is associated with a spectrum of ocular abnormalities including ASD. However, mapping data and phenotype analysis of human deletions suggests that an additional locus for this condition may be present in the same chromosomal region as FOXC1. DHPLC screening of ENU mutagenised mouse archival tissue revealed five novel mouse Foxf2 mutations. Re-derivation of one of these (the Foxf2W174R mouse lineage) resulted in heterozygote mice that exhibited thinning of the iris stroma, hyperplasia of the trabecular meshwork, small or absent Schlemm's canal and a reduction in the iridocorneal angle. Homozygous E18.5 mice showed absence of ciliary body projections, demonstrating a critical role for Foxf2 in the developing eye. These data provide evidence that the Foxf2 gene, separated from Foxc1 by less than 70 kb of genomic sequence (250 kb in human DNA), may explain human abnormalities in some cases of ASD where FOXC1 has been excluded genetically
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