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61.
Alvarado-Rybak Mario Valenzuela-Sánchez Andrés Cevidanes Aitor Peñafiel-Ricaurte Alexandra Uribe-Rivera David E. Flores Edgardo Cunningham Andrew A. Soto-Azat Claudio 《Parasitology research》2018,117(5):1643-1646
Parasitology Research - Amphibians are hosts for a wide variety of micro- and macro-parasites. Chigger mites from the Hannemania genus are known to infect a wide variety of amphibian species across... 相似文献
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How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome 下载免费PDF全文
Mathias Schwartz Damien Sternberg Sandra Whalen Alexandra Afenjar Arnaud Isapof Brigitte Chabrol Marie‐France Portnoï Solveig Heide Boris Keren Sandra Chantot‐Bastaraud Jean‐Pierre Siffroi 《American journal of medical genetics. Part A》2018,176(1):151-155
A congenital myasthenia was suspected in two unrelated children with very similar phenotypes including several episodes of severe dyspnea. Both children had a 10q11.2 deletion revealed by Single Nucleotide Polymorphisms array or by Next Generation Sequencing analysis. The deletion was inherited from the healthy mother in the first case. These deletions unmasked a recessive mutation at the same locus in both cases, but in two different genes: CHAT and SLC18A3. 相似文献
66.
Mary Jane Shultz Alexandra Brumberg Patrick J. Bisson Ryan Shultz 《Proceedings of the National Academy of Sciences of the United States of America》2015,112(45):E6096-E6100
The ability to prepare single-crystal faces has become central to developing and testing models for chemistry at interfaces, spectacularly demonstrated by heterogeneous catalysis and nanoscience. This ability has been hampered for hexagonal ice, Ih––a fundamental hydrogen-bonded surface––due to two characteristics of ice: ice does not readily cleave along a crystal lattice plane and properties of ice grown on a substrate can differ significantly from those of neat ice. This work describes laboratory-based methods both to determine the Ih crystal lattice orientation relative to a surface and to use that orientation to prepare any desired face. The work builds on previous results attaining nearly 100% yield of high-quality, single-crystal boules. With these methods, researchers can prepare authentic, single-crystal ice surfaces for numerous studies including uptake measurements, surface reactivity, and catalytic activity of this ubiquitous, fundamental solid.Studies of model, single-crystal surfaces have revolutionized understanding of a vast array of heterogeneous catalysts and nanoparticles ranging from pure metals to alloys to semiconductors. Applying the single-crystal surface strategy to ice––arguably one of the most fundamental and ubiquitous hydrogen-bonded interfaces––has been limited due to challenges associated with surface generation. As a result, questions about molecular-level dynamics, surface binding site patterns, and the molecular-level structure remain unanswered (1). Several strategies have been adopted for studying ice: (i) Depositing solid water on a metal or ionic substrate that matches the oxygen lattice (2, 3). However, ice on a substrate often has distinctly different properties from those of neat ice; indeed, such ice can even be hydrophobic (4, 5)! (ii) Uptake measurements often use a Knudsen cell with vapor-deposited ice on a substrate (6) or compacted, finely divided, artificial snow (7) to arrive at a molecular-level picture for gas–particle interaction despite the irregular, highly variable surfaces used. (iii) Small crystallites can be well characterized but, as highlighted by Libbrecht and Rickerby (8), results can be clouded by competition from nearby crystallites; small faces compete with adjacent faces. In addition, crystallites are perturbed by the supporting surface. It is therefore desirable to prepare macroscopic samples with known faces.Interactions at ice surfaces have a particularly profound effect on climate. For example, correlational studies suggest that rain formation depends on ice particles in clouds (9), but not all ice-containing clouds yield rain. It is thought that variation in supersaturation and the mechanism for gathering water molecules by ice particles profoundly affects precipitation. Discrepancies between experiment and theory are often rationalized as a result of irregular shapes, inelastic scattering, or differing binding sites leaving large uncertainties for climate models (10). More reproducible, well-characterized surfaces of Ih––the most stable form of ice at ambient pressure––are needed to bring clarity.Ice is unusual in that the macroscopic sample does not reveal the crystal lattice orientation. Neighboring grain lattice orientation is a critical issue in the ice-core and glaciology communities (11). Hence, previous work (12–14) focused on determining grain orientation with respect to the grain boundary. The most quantitative of these are the two methods of Matsuda (12). The first uses etch pits measuring lengths inside the pit. Large uncertainties in length measurements result in large uncertainties in lattice axis orientation angles; this is not a major issue for grain growth studies but is a serious problem for generating targeted faces. The second method measures only the azimuths, thus incompletely determining orientation. Both methods break down if the optic axis is near-parallel to the surface, and neither provides the tools required to accurately orient a macroscopic sample to generate a targeted face. Lattice orientation could be determined with X-ray methods (15, 16) provided such determination includes a connection to the macroscopic sample. For wide-spread use, a laboratory-based method is preferable. This work describes two methods to fill this important need. The first uses pit perimeter ratio measurements; because the perimeter is sharp, accuracy is greatly improved. The second method locates the optic axis via cross-polarizers (11, 17), then precisely determines the hexagonal orientation via etching. Closed-form, analytical formulas are derived relating lattice orientation to the macroscopic sample. These orientation formulas feed into rotation matrices generating additional analytical formulas enabling precise cutting of any targeted face. The result is illustrated by cutting each of the three major ice faces. These techniques provide researchers with the tools needed to prepare neat ice surfaces.This work specifically describes face preparation from cylindrical boules (18); however, the method is easily adapted to any macroscopic, single-crystal geometry. Due to nearly equal energy faces, ice takes on the shape of the confining container. The near-energy match is demonstrated by growth in the modified Bridgeman apparatus (19). Nucleation occurs on a polycrystalline seed; single-crystal growth is achieved due to competitive growth among the multiple ice–water interfaces (18). Careful thermal management maintains near-equilibrium conditions yielding a large single crystal, but the crystal orientation is not a priori known. [Note: ice seeded by a floating crystal tends to have the optic axis perpendicular to the growth direction but single-crystal yield is low, ~10% (20).] Close energy match among the faces also means that ice does not readily cleave along any lattice plane (21). Thus, successful face preparation for any ice sample begins with characterization of the lattice orientation. 相似文献
67.
David J. Lea-Smith Steven J. Biller Matthew P. Davey Charles A. R. Cotton Blanca M. Perez Sepulveda Alexandra V. Turchyn David J. Scanlan Alison G. Smith Sallie W. Chisholm Christopher J. Howe 《Proceedings of the National Academy of Sciences of the United States of America》2015,112(44):13591-13596
Hydrocarbons are ubiquitous in the ocean, where alkanes such as pentadecane and heptadecane can be found even in waters minimally polluted with crude oil. Populations of hydrocarbon-degrading bacteria, which are responsible for the turnover of these compounds, are also found throughout marine systems, including in unpolluted waters. These observations suggest the existence of an unknown and widespread source of hydrocarbons in the oceans. Here, we report that strains of the two most abundant marine cyanobacteria, Prochlorococcus and Synechococcus, produce and accumulate hydrocarbons, predominantly C15 and C17 alkanes, between 0.022 and 0.368% of dry cell weight. Based on global population sizes and turnover rates, we estimate that these species have the capacity to produce 2–540 pg alkanes per mL per day, which translates into a global ocean yield of ∼308–771 million tons of hydrocarbons annually. We also demonstrate that both obligate and facultative marine hydrocarbon-degrading bacteria can consume cyanobacterial alkanes, which likely prevents these hydrocarbons from accumulating in the environment. Our findings implicate cyanobacteria and hydrocarbon degraders as key players in a notable internal hydrocarbon cycle within the upper ocean, where alkanes are continually produced and subsequently consumed within days. Furthermore we show that cyanobacterial alkane production is likely sufficient to sustain populations of hydrocarbon-degrading bacteria, whose abundances can rapidly expand upon localized release of crude oil from natural seepage and human activities.Hydrocarbons are ubiquitous in the oceans, where natural seepage and human activities are estimated to release between 0.4 and 4.0 million tons of crude oil into the ocean ecosystem annually (1). Even in minimally polluted marine surface waters, alkanes such as pentadecane and heptadecane have been found at concentrations ranging from 2 to 130 pg/mL (2, 3), although their sources remain unclear. A small proportion of alkanes, from 1 to 60 fg/mL, is associated with particulate matter >0.7 µm in diameter (4). Larger amounts may be associated with particulate matter <0.7 µm in diameter, because ocean concentrations are higher than the solubility of pentadecane and heptadecane, which is ∼10 pg/mL and 1 pg/mL, respectively (2). Populations of hydrocarbon-degrading bacteria, referred to as hydrocarbonoclastic bacteria, including many species that cannot use other carbon sources, are present in marine systems and play an important role in turnover of these compounds (5–9). Because obligate hydrocarbon-degrading bacteria are found in waters without significant levels of crude oil pollution, these organisms must use an alternate hydrocarbon source (9–11).Here, we investigate the extent to which cyanobacteria may contribute to these marine hydrocarbon pools. Cyanobacteria (oxygenic photosynthetic bacteria) can synthesize C15 to C19 hydrocarbons via two separate pathways. The first produces alkanes, predominantly pentadecane, heptadecane, and methyl-heptadecane, in addition to smaller amounts of alkenes, via acyl-ACP reductase (FAR) and aldehyde deformylating oxygenase (FAD) enzymes (12). The second pathway generates alkenes, primarily nonadecene and 1,14-nonadecadiene, via a polyketide synthase enzyme (Ols) (13). The abundance and ubiquity of cyanobacteria in the marine environment suggests hydrocarbon production in the oceans could be considerable and broadly distributed geographically (14, 15).We focused our studies on the two most abundant marine cyanobacteria, Prochlorococcus and Synechococcus (16). These genera have estimated global population sizes of 2.9 ± 0.1 × 1027 and 7.0 ± 0.3 × 1026 cells, respectively (14), and are together responsible for approximately a quarter of marine net primary production (14). These are also the only cyanobacterial genera for which global population size estimates have been compiled (14). Although the distribution patterns of both genera overlap (14, 17), Prochlorococcus cells dominate low-nutrient open-ocean areas between 40°N and 40°S and can be found at depths of up to 200 m (16, 18). Synechococcus are more numerous in coastal and temperate regions where conditions and nutrient levels are more variable (14, 16) but are still widely distributed in high abundance. 相似文献
68.
Róisín Commane Laura K. Meredith Ian T. Baker Joseph A. Berry J. William Munger Stephen A. Montzka Pamela H. Templer Stephanie M. Juice Mark S. Zahniser Steven C. Wofsy 《Proceedings of the National Academy of Sciences of the United States of America》2015,112(46):14162-14167
Carbonyl sulfide (OCS), the most abundant sulfur gas in the atmosphere, has a summer minimum associated with uptake by vegetation and soils, closely correlated with CO2. We report the first direct measurements to our knowledge of the ecosystem flux of OCS throughout an annual cycle, at a mixed temperate forest. The forest took up OCS during most of the growing season with an overall uptake of 1.36 ± 0.01 mol OCS per ha (43.5 ± 0.5 g S per ha, 95% confidence intervals) for the year. Daytime fluxes accounted for 72% of total uptake. Both soils and incompletely closed stomata in the canopy contributed to nighttime fluxes. Unexpected net OCS emission occurred during the warmest weeks in summer. Many requirements necessary to use fluxes of OCS as a simple estimate of photosynthesis were not met because OCS fluxes did not have a constant relationship with photosynthesis throughout an entire day or over the entire year. However, OCS fluxes provide a direct measure of ecosystem-scale stomatal conductance and mesophyll function, without relying on measures of soil evaporation or leaf temperature, and reveal previously unseen heterogeneity of forest canopy processes. Observations of OCS flux provide powerful, independent means to test and refine land surface and carbon cycle models at the ecosystem scale.Carbonyl sulfide (OCS) is the most abundant sulfur gas in the atmosphere (1), and biogeochemical cycling of OCS affects both the stratosphere and the troposphere. The tropospheric OCS mixing ratio is between 300 and 550 parts per trillion (ppt) (1) (10−12 mol OCS per mol dry air), decreasing sharply with altitude in the stratosphere (2). In times of low volcanic activity, the sulfur budget and aerosol loading of the stratosphere are largely controlled by transport and photooxidation of OCS from the troposphere (3). The processes regulating emission and uptake of OCS are thus important factors in determining how changes in climate and land cover may affect the stratospheric sulfate layer.Oceans are the dominant source of atmospheric OCS (4), with smaller emissions from anthropogenic and terrestrial sources, such as wetlands and anoxic soils (e.g., refs. 5 and 6) and oxic soils during times of heat or drought stress (e.g., refs. 7 and 8). The terrestrial biosphere is the largest sink for OCS (1, 4, 9, 10) with uptake by both oxic soils (e.g., ref. 11) and vegetation (e.g., ref. 9). Once OCS molecules pass through the stomata of leaves, the uptake rate of OCS is controlled by reaction with carbonic anhydrase (CA) within the mesophyll, to produce H2S and CO2. CA is the same enzyme that hydrolyzes carbon dioxide (CO2) in the first chemical step of photosynthesis (12).Studies considering the large-scale atmospheric variability of OCS have linked OCS fluxes and the photosynthetic uptake of CO2 for regional and global scales (1, 4, 13). Leaf-scale studies have confirmed the OCS link to photosynthesis (14, 15). Initial OCS ecosystem flux estimations were made using flask sampling followed by analysis via gas chromatography–mass spectrometry (GC-MS) (13, 16), but these studies did not have sufficient resolution to examine daily or hourly controls on the OCS flux. Laser spectrometers have been developed (17, 18) to enable direct, in situ measurement of OCS fluxes by eddy covariance, and measurements of OCS ecosystem fluxes have been reported, for periods of up to a few weeks, above arid forests (19) and an agricultural field (8, 20).Net carbon exchange in terrestrial ecosystems [net ecosystem exchange (NEE)] can be measured by eddy flux methods. NEE may be regarded as the sum of two gross fluxes: gross ecosystem productivity (GEP) and ecosystem respiration (Reco). GEP is the light-dependent part of NEE, estimated by subtracting daytime ecosystem respiration (Reco), computed by extrapolation of the temperature dependence of nighttime NEE (NEE – Reco = GEP) (e.g., refs. 21–24). At night, NEE includes all autotrophic and heterotrophic respiration processes. During the day, GEP approximates the carboxylation rate minus photorespiration at the ecosystem scale (25). Extrapolation of nighttime Reco introduces major uncertainty in the interpretation of GEP, which could be reduced, and the ecological significance of GEP increased, by developing independent methods of measuring rates of photosynthetic processes. As shown below, fluxes of OCS give more direct information on one of the major controls on GEP, stomatal conductance, rather than GEP itself, providing a powerful means for testing and improving ecosystem models and for scaling up leaf-level processes to the whole ecosystem.Here we describe the factors controlling the hourly, daily, seasonal, and total fluxes of OCS in a forest ecosystem, using a year (2011) of high-frequency, direct measurements at Harvard Forest, MA. We report the seasonal cycle, the response to environmental conditions, and the total deposition flux of OCS throughout the year 2011. We compare these fluxes to corresponding measurements of CO2 flux and to simulations using the Simple Biosphere model (SiB3). 相似文献
69.
Ednei Luiz Antonio Andrey Jorge Serra Alexandra Alberta dos Santos Stella Sousa Vieira Jairo Montemor Augusto Silva Amanda Yoshizaki Renato Rodrigues Sofia Paulo José Ferreira Tucci 《Brazilian Journal Of Cardiovascular Surgery》2015,30(1):70-76