325 research outputs found

    CUGC for hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome

    Get PDF
    From 1999 to date, 50 affecting function variants have been identified and associated to HHH syndrome [1–5]. As it is not available in the literature a complete up-to-date list of disease-causing variants for SLC25A15 gene, we included this information as a Supplementary Excel sheet (See Supplementary Material File #1): this list was created by using LOVD and ClinVar databases and liked to the relevant literature reference. Reported variants consist of: 29 missense variants, 4 frameshift, 11 nonsense, 2 splicing, 2 small deletion, 1 in frame insertion, 1 gross deletion

    Surface energy budget and thermal inertia at Gale Crater: Calculations from ground‐based measurements

    Full text link
    The analysis of the surface energy budget (SEB) yields insights into soil‐atmosphere interactions and local climates, while the analysis of the thermal inertia ( I ) of shallow subsurfaces provides context for evaluating geological features. Mars orbital data have been used to determine thermal inertias at horizontal scales of ~10 4  m 2 to ~10 7  m 2 . Here we use measurements of ground temperature and atmospheric variables by Curiosity to calculate thermal inertias at Gale Crater at horizontal scales of ~10 2  m 2 . We analyze three sols representing distinct environmental conditions and soil properties, sol 82 at Rocknest (RCK), sol 112 at Point Lake (PL), and sol 139 at Yellowknife Bay (YKB). Our results indicate that the largest thermal inertia I  = 452 J m −2  K −1  s −1/2 (SI units used throughout this article) is found at YKB followed by PL with I  = 306 and RCK with I  = 295. These values are consistent with the expected thermal inertias for the types of terrain imaged by Mastcam and with previous satellite estimations at Gale Crater. We also calculate the SEB using data from measurements by Curiosity's Rover Environmental Monitoring Station and dust opacity values derived from measurements by Mastcam. The knowledge of the SEB and thermal inertia has the potential to enhance our understanding of the climate, the geology, and the habitability of Mars. Key Points We calculate the thermal inertia and surface energy budget at Gale Crater We use MSL REMS measurements for our calculationsPeer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/108664/1/jgre20287.pd

    Complete chloroplast genome sequence of Holoparasite Cistanche Deserticola (Orobanchaceae) reveals gene loss and horizontal gene transfer from Its host Haloxylon Ammodendron (Chenopodiaceae)

    Get PDF
    The central function of chloroplasts is to carry out photosynthesis, and its gene content and structure are highly conserved across land plants. Parasitic plants, which have reduced photosynthetic ability, suffer gene losses from the chloroplast (cp) genome accompanied by the relaxation of selective constraints. Compared with the rapid rise in the number of cp genome sequences of photosynthetic organisms, there are limited data sets from parasitic plants. The authors report the complete sequence of the cp genome of Cistanche deserticola, a holoparasitic desert species belonging to the family Orobanchaceae

    Methods for Obtaining and Analyzing Whole Chloroplast Genome Sequences

    Get PDF
    During the past decade there has been a rapid increase in our understanding of plastid genome organization and evolution due to the availability of many new completely sequenced genomes. Currently there are 43 complete genomes published and ongoing projects are likely to increase this sampling to nearly 200 genomes during the next five years. Several groups of researchers including ours have been developing new techniques for gathering and analyzing entire plastid genome sequences and details of these developments are summarized in this chapter. The most important recent developments that enhance our ability to generate whole chloroplast genome sequences involve the generation of pure fractions of chloroplast genomes by whole genome amplification using rolling circular amplification, cloning genomes into Fosmid or BAC vectors, and the development of an organellar annotation program (DOGMA). In addition to providing details of these methods, we provide an overview of methods for analyzing complete plastid genome sequences for repeats and gene content, as well as approaches for using gene order and sequence data for phylogeny reconstruction. This explosive increase in the number of sequenced plastid genomes and improved computational tools will provide many insights into the evolution of these genomes and much new data for assessing relationships at deep nodes in plants and other photosynthetic organisms

    Habitability Assessment at Gale Crater: Implications from Initial Results

    Get PDF
    Mars Science Laboratory has made measurements that contribute to our assessment of habitability potential at Gale Crater. Campaign organization into a consistent set of measurable parameters allows us to rank the relative habitability potential of sites we study, ultimately laying a foundation for a global context inclusive of past and future Mars mission observations. Chemical, physical, geological and geographic attributes shape environments. Isolated measurements of these factors may be insufficient to deem an environment habitable, but the sum of measurements can help predict locations with greater or lesser habitability potential. Metrics for habitability assessment based on field work at sites sharing features analogous to Mars have previously been suggested. Grouping these metrics helps us to develop an index for their application to habitability assessment. The index is comprised of the weighted values for four groups of parameters, the habitability threshold for each is to be determined

    Effects of Manganese Porphyrins on Cellular Sulfur Metabolism

    Get PDF
    Manganese porphyrins (MnPs), MnTE-2-PyP5+, MnTnHex-2-PyP5+ and MnTnBuOE-2-PyP5+, are superoxide dismutase (SOD) mimetics and form a redox cycle between O2 and reductants, including ascorbic acid, ultimately producing hydrogen peroxide (H2O2). We previously found that MnPs oxidize hydrogen sulfide (H2S) to polysulfides (PS; H2Sn, n = 2–6) in buffer. Here, we examine the effects of MnPs for 24 h on H2S metabolism and PS production in HEK293, A549, HT29 and bone marrow derived stem cells (BMDSC) using H2S (AzMC, MeRho-AZ) and PS (SSP4) fluorophores. All MnPs decreased intracellular H2S production and increased intracellular PS. H2S metabolism and PS production were unaffected by cellular O2 (5% versus 21% O2), H2O2 or ascorbic acid. We observed with confocal microscopy that mitochondria are a major site of H2S production in HEK293 cells and that MnPs decrease mitochondrial H2S production and increase PS in what appeared to be nucleoli and cytosolic fibrillary elements. This supports a role for MnPs in the metabolism of H2S to PS, the latter serving as both short- and long-term antioxidants, and suggests that some of the biological effects of MnPs may be attributable to sulfur metabolism

    Mars Science Laboratory relative humidity observations : Initial results

    Get PDF
    The authors would like to express their gratitude to the MSL and REMS instrument teams in making this wonderful Mars mission come true. Ari‐Matti Harri and Hannu Savijarvi are thankful for the Finnish Academy grants 132825 and 131723.Peer reviewedPublisher PD

    The Urological Association of Asia clinical guideline for urinary stone disease

    Get PDF
    The Urological Association of Asia, consisting of 25 member associations and one affiliated member since its foundation in 1990, has planned to develop Asian guidelines for all urological fields. The field of stone diseases is the third of its guideline projects. Because of the different climates, and social, economic and ethnic environments, the clinical practice for urinary stone diseases widely varies among the Asian countries. The committee members of the Urological Association of Asia on the clinical guidelines for urinary stone disease carried out a surveillance study to better understand the diversity of the treatment strategy among different regions and subsequent systematic literature review through PubMed and MEDLINE database between 1966 and 2017. Levels of evidence and grades of recommendation for each management were decided according to the relevant strategy. Each clinical question and answer were thoroughly reviewed and discussed by all committee members and their colleagues, with suggestions from expert representatives of the American Urological Association and European Association of Urology. However, we focused on the pragmatic care of patients and our own evidence throughout Asia, which included recent surgical trends, such as miniaturized percutaneous nephrolithotomy and endoscopic combined intrarenal surgery. This guideline covers all fields of stone diseases, from etiology to recurrence prevention. Here, we present a short summary of the first version of the guideline – consisting 43 clinical questions – and overview its key practical issues

    Demarcating circulation regimes of synchronously rotating terrestrial planets within the habitable zone

    Get PDF
    We investigate the atmospheric dynamics of terrestrial planets in synchronous rotation within the habitable zone of low-mass stars using the Community Atmosphere Model (CAM). The surface temperature contrast between day and night hemispheres decreases with an increase in incident stellar flux, which is opposite the trend seen on gas giants. We define three dynamical regimes in terms of the equatorial Rossby deformation radius and the Rhines length. The slow rotation regime has a mean zonal circulation that spans from day to night side, with both the Rossby deformation radius and the Rhines length exceeding planetary radius, which occurs for planets around stars with effective temperatures of 3300 K to 4500 K (rotation period > 20 days). Rapid rotators have a mean zonal circulation that partially spans a hemisphere and with banded cloud formation beneath the substellar point, with the Rossby deformation radius is less than planetary radius, which occurs for planets orbiting stars with effective temperatures of less than 3000 K (rotation period < 5 days). In between is the Rhines rotation regime, which retains a thermally-direct circulation from day to night side but also features midlatitude turbulence-driven zonal jets. Rhines rotators occur for planets around stars in the range of 3000 K to 3300 K (rotation period ∼ 5 to 20 days), where the Rhines length is greater than planetary radius but the Rossby deformation radius is less than planetary radius. The dynamical state can be observationally inferred from comparing the morphology of the thermal emission phase curves of synchronously rotating planets
    corecore