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At least 1,603 records · Page 89

A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)

Chromosomal rearrangements with duplication of the lamin B1 (LMNB1) gene underlie autosomal dominant adult-onset demyelinating leukodystrophy (ADLD), a rare neurological disorder in which overexpression of LMNB1 causes progressive central nervous system demyelination. However, we previously reported an ADLD family (ADLD-1-TO) without evidence of duplication or other mutation in LMNB1 despite linkage to the LMNB1 locus and lamin B1 overexpression. By custom array-CGH, we further investigated this family and report here that patients carry a large (~660 kb) heterozygous deletion that begins 66 kb upstream of the LMNB1 promoter. Lamin B1 overexpression was confirmed in further ADLD-1-TO tissues and in a postmortem brain sample, where lamin B1 was increased in the frontal lobe. Through parallel studies, we investigated both loss of genetic material and chromosomal rearrangement as possible causes of LMNB1 overexpression, and found that ADLD-1-TO plausibly results from an enhancer adoption mechanism. The deletion eliminates a genome topological domain boundary, allowing normally forbidden interactions between at least three forebrain-directed enhancers and the LMNB1 promoter, in line with the observed mainly cerebral localization of lamin B1 overexpression and myelin degeneration. Finally, this second route to LMNB1 overexpression and ADLD is a new example of the relevance of regulatory landscape modifications in determining Mendelian phenotypes.

59 BASIC BIOLOGICAL SCIENCES↗

Turbulence kinetic energy budget and conditional sampling of momentum, scalar, and intermittency fluxes in thermally stratified wind farms

A description of the turbulence kinetic energy budget is investigated to understand the dynamics and turbulence energy transfer between the atmospheric boundary layer and large wind farms. The turbulence kinetic energy budget terms are a dominant factor in explaining the energy supply process in wind farms. Large eddy simulations are used to generate the thermally stratified wind turbine array boundary layer, where stable and unstable conditions are considered. The wakes represent a sink of mean kinetic energy, and turbulence transport redistributes energy in the wake region. The energy balance between the budget terms is dependent on the physical location in the wind farm. During the unstable scenario, turbulence is driven by the production, transport, and buoyancy terms. Further, the contribution of the turbulence kinetic energy budget terms is reduced with increasing atmospheric stability, especially above the shear layer, where the mechanical production is the dominant term. Pressure diffusion redistributes the turbulent energy from the streamwise direction into the other components of the normal Reynolds stresses. This distinctive feature of the changing thermal stratification is presented through the quadrant analysis. The momentum ejection and sweep frequencies are both comparable and dominant. The scalar flux shows an increase in the contribution of the negative correlation in the quadrants. The quadrant analysis is extended to account for intermittency based on the pointwise Holder exponents. As a result, positive correlations are dominant in the wake and in higher layers of the domain for both considered cases.

17 WIND ENERGY↗

Compiler and Runtime Approaches to Enable Large-Scale Irregular Programs. Final report, July 2013 - July 2019

While regular algorithms, characterized by operations on dense matrices and arrays, have long been the mainstay of scientific, high-performance computing, irregular algorithms, which feature unpredictable accesses to pointer-based data structures, are becoming increasingly common in high performance computing, arising in graph analysis, data mining and visualization, among other domains. Unfortunately, the defining characteristics of irregular applications, their dynamic, unpredictable, data-dependent access patterns and data layouts, make achieving high performance on large scale systems difficult. Scaling applications to peta- and exa-scale requires carefully controlling communication and data movement and placement, an inherently difficult task when access patterns and data layouts are unpredictable! Most irregular applications that attain high performance must be painstakingly hand-written and hand-tuned, with few common principles or paradigms uniting various implementations and easing future development. Despite the increasing importance of irregular applications, there is little programmer knowledge, and even less compiler ability, devoted to optimizing them. This project aims to solve these problems. By allowing programmers to write irregular applications in high level forms, with at most a few annotations highlighting key structural properties, programmers can focus on developing their algorithms and methods. The compiler and run-time system can take on the tedious task of optimizing the application for execution at large scales, and can automatically provide efficient implementations. This will provide portability and ease maintenance for existing irregular applications, but, more importantly, open up whole new domains of computational science to large-scale, high-performance simulation codes.

97 MATHEMATICS AND COMPUTING↗

Recent Developments in Femtosecond Laser-Enabled TriBeam Systems

Streams of multimodal three-dimensional (3D) and four-dimensional (4D) data are revolutionizing our ability to design and predict the behavior of a broad array of advanced materials systems. Over the last 10 years, a new 3D imaging platform consisting of a femtosecond (fs) pulsed laser coupled with a focused ion beam scanning electron microscope (FIB SEM) has been developed by UC Santa Barbara in collaboration with Thermo Fisher Scientific (formerly FEI). The femtosecond-laser-enabled FIB SEM, called the TriBeam, has become one of the only 3D serial sectioning methods available that can gather millimeter-scaled multimodal datasets at sub-μm voxel resolutions; these length scales are critical for many materials problems. Multimodal chemical, crystallographic, and morphological information can be gathered rapidly on a layer-by-layer basis and reconstructed in 3D. Large (gigabyte to terabyte scale) 3D datasets have been generated for a broad array of materials systems, including metallic alloys, ceramics, biomaterials, polymer- and ceramic-matrix composites, and semiconductors. The research tasks conducted have resulted in a completely new design, operating with a dual-wavelength femtosecond-pulsed laser on a plasma focused ion beam (PFIB) platform.

36 MATERIALS SCIENCE↗

Si Microwire-Array Photocathodes Decorated with Cu Allow CO 2 Reduction with Minimal Parasitic Absorption of Sunlight

High loadings of Cu were integrated on the light-facing side of Si microwire arrays used under simulated sunlight for the photoelectrochemical reduction of CO 2 (aq) to hydrocarbons in 0.10 M KHCO 3 (aq). Radial-junction n + p-Si microwire arrays decorated with Cu exhibited absolute photocurrent densities comparable to an uncovered Si surface. Moreover, with respect to a Cu foil electrode, the positive shift in the onset potential for hydrocarbon formation at n + p-Si/Cu microwire arrays was equal to or greater than the photovoltage of the semiconductor alone. Selective electrodeposition of Cu on the tips and sidewalls of Si microwires was responsible for the minimal parasitic reflection and absorption exhibited by the catalyst, such that light-limited, absolute current densities >25 mA·cm –2 were sustained for 48 h under simulated sunlight. Photoelectrodes prepared from semiconductors with low diode quality factors and electrocatalysts with large Tafel slopes are shown to benefit from increased microstructured surface area. Si microwire arrays are thus suitable for photoelectrochemical reactions requiring high loadings of metallic and reflective electrocatalysts.

25 ENERGY STORAGE↗

Chemiresistive Sensor Arrays from Conductive 2D Metal–Organic Frameworks

Applications of porous metal–organic frameworks (MOFs) in electronic devices are rare, owing in large part to a lack of MOFs that display electrical conductivity. Here, we describe the use of conductive two-dimensional (2D) MOFs as a new class of materials for chemiresistive sensing of volatile organic compounds (VOCs). We demonstrate that a family of structurally analogous 2D MOFs can be used to construct a cross-reactive sensor array that allows for clear discrimination between different categories of VOCs. Lastly, experimental data show that multiple sensing mechanisms are operative with high degrees of orthogonality, establishing that the 2D MOFs used here are mechanistically unique and offer advantages relative to other known chemiresistor materials.

37 INORGANIC, ORGANIC, PHYSICAL, AND ANALYTICAL CH↗

A high performance cost-effective digital complex correlator for an X-band polarimetry survey

The detailed knowledge of the Milky Way radio emission is important to characterize galactic foregrounds masking extragalactic and cosmological signals. The update of the global sky models describing radio emissions over a very large spectral band requires high sensitivity experiments capable of observing large sky areas with long integration times. Here, we present the design of a new 10 GHz (X-band) polarimeter digital backend to map the polarization components of the galactic synchrotron radiation field of the Northern Hemisphere sky. The design follows the digital processing trends in radio astronomy and implements a large bandwidth (1 GHz) digital complex cross-correlator to extract the Stokes parameters of the incoming synchrotron radiation field. The hardware constraints cover the implemented VLSI hardware description language code and the preliminary results. The implementation is based on the simultaneous digitized acquisition of the Cartesian components of the two linear receiver polarization channels. The design strategy involves a double data rate acquisition of the ADC interleaved parallel bus, and field programmable gate array device programming at the register transfer mode. The digital core of the back-end is capable of processing 32 Gbps and is built around an Altera field programmable gate array clocked at 250 MHz, 1 GSps analog to digital converters and a clock generator. The control of the field programmable gate array internal signal delays and a convenient use of its phase locked loops provide the timing requirements to achieve the target bandwidths and sensitivity. This solution is convenient for radio astronomy experiments requiring large bandwidth, high functionality, high volume availability and low cost. Of particular interest, this correlator was developed for the Galactic Emission Mapping project and is suitable for large sky area polarization continuum surveys. The solutions may also be adapted to be used at signal processing subsystem levels for large projects like the square kilometer array testbeds.

79 ASTRONOMY AND ASTROPHYSICS↗

III-V Nanowire Array Growth by Selective Area Epitaxy

III-V semiconductor nanowires are unique material phase due to their high aspect ratio, large surface area, and strong quantum confinement. This affords the opportunity to control charge transport and optical properties for electrical and photonic applications. Nanoscale selective area metalorganic chemical vapor deposition growth (NS-SAG) is a promising technique to maximize control of nanowire diameter and position, which are essential for device application. In this work, InP and GaAs nanowire arrays are grown by NS-SAG. We observe enhanced sidewall growth and array uniformity disorder in high growth rate condition. Disorder in surface morphology and array uniformity of InP nanowire array is explained by enhanced growth on the sidewall and stacking faults. We also find that AsH{sub 3} decomposition on the sidewall affects the growth behavior of GaAs nanowire arrays.

36 MATERIALS SCIENCE↗

Gamma-ray Spectra from a 3x3 CsPbBr 3 Array

CsPbBr 3 is a promising semiconductor material for X- and γ-ray detection at room temperature due to a wide bandgap of 2.3eV, high stopping power, and relatively high mobility-lifetime products of electrons and holes, and the capability of growing large crystals. In this paper we report on fabrication and testing of a 3.8 mm thick, 3 X 3 array with 1.2 mm pitch. Raw 137 Cs spectra were acquired with applied bias of 400 V, 500 V, and 600 V. Energy resolution of between 2 and 3 % FWHM at 662 keV was obtained from most pixels without any correction at room temperature. After 15 days under continuous bias at 600 V, no polarization effects were observed.

36 MATERIALS SCIENCE↗

Children and youth's biopsychosocial wellbeing in the context of energy resource activities

Background: Children and youth emerge as key populations that are impacted by energy resource activities, in part because of their developmental vulnerabilities, as well as the compounding effects of energy systems on their families, communities, and physical environments. While there is a larger literature focused on fossil fuel emissions and children, the impacts of many aspects of energy systems on children and youth remain under examined and scattered throughout the health, social science, and environmental science literatures. Objectives: This systematic interdisciplinary review examines the biological, psychosocial, and economic impacts of energy systems identified through social science research – specifically focused on household and industrial extraction and emissions – on children and youth functioning. Methods: A critical interpretive search of interdisciplinary and international social sciences literature was conducted using an adaptive protocol focusing on the biopsychosocial and economic impacts of energy systems on children and youth. The initial results were complemented with a purposeful search to extend the breadth and depth of the final collection of articles. Discussion: Although relatively few studies have specifically focused on children and youth in this context, the majority of this research uncovers a range of negative health impacts that are directly and indirectly related to the development and ongoing operations of natural resource production, particularly oil and gas, coal, and nuclear energy. Psychosocial and cultural effects, however, remain largely unexamined and provide a rich avenue for further research. Conclusions: This synthesis identifies an array of adverse biopsychosocial health outcomes on children and youth of energy resource extraction and emissions, and identifies gaps that will drive future research in this area. - Highlights: • Children and youth are vulnerable to the effects of energy extraction and emissions. • This review details biopsychosocial impacts of these activities on young people. • Psychosocial impacts of energy extraction and emissions are largely unexamined.

02 PETROLEUM↗

Developing custom fire behavior fuel models from ecologically complex fuel structures for upper Atlantic Coastal Plain forests.

Currently geospatial fire behavior analyses are performed with an array of fire behavior modeling systems such as FARSITE, FlamMap, and the Large Fire Simulation System. These systems currently require standard or customized surface fire behavior fuel models as inputs that are often assigned through remote sensing information. The ability to handle hundreds or thousands of measured surface fuelbeds representing the fine scale variation in fire behavior on the landscape is constrained in terms of creating compatible custom fire behavior fuel models. In this study, we demonstrate an objective method for taking ecologically complex fuelbeds from inventory observations and converting those into a set of custom fuel models that can be mapped to the original landscape. We use an original set of 629 fuel inventory plots measured on an 80,000 ha contiguous landscape in the upper Atlantic Coastal Plain of the southeastern United States. From models linking stand conditions to component fuel loads, we impute fuelbeds for over 6000 stands. These imputed fuelbeds were then converted to fire behavior parameters under extreme fuel moisture and wind conditions (97th percentile) using the fuel characteristic classification system (FCCS) to estimate surface fire rate of spread, surface fire flame length, shrub layer reaction intensity (heat load), non-woody layer reaction intensity, woody layer reaction intensity, and litter-lichen-moss layer reaction intensity. We performed hierarchical cluster analysis of the stands based on the values of the fire behavior parameters. The resulting 7 clusters were the basis for the development of 7 custom fire behavior fuel models from the cluster centroids that were calibrated against the FCCS point data for wind and fuel moisture. The latter process resulted in calibration against flame length as it was difficult to obtain a simultaneous calibration against both rate of spread and flame length. The clusters based on FCCS fire behavior parameters represent reasonably identifiable stand conditions, being: (1) pine dominated stands with more litter and down woody debriscomponents than other stands, (2) hardwood and pine stands with no shrubs, (3) hardwood dominated stands with low shrub and high non-woody biomass and high down woody debris, (4) stands with high grass and forb (i.e., non-woody) biomass as well as substantial shrub biomass, (5) stands with both high shrub and litter biomass, (6) pine-mixed hardwood stands with moderate litter biomass and low shrub biomass, and (7) baldcypress-tupelo stands. Models representing these stand clusters generated flame lengths from 0.6 to 2.3 musing a 30 km h{sub 1} wind speed and fireline intensities of 100-1500 kW m{sub 1} that are typical within the range of experience on this landscape. The fuel models ranked 1 < 2 < 7 < 5 < 4 < 3 < 6 in terms of both flame length and fireline intensity. The method allows for ecologically complex data to be utilized in order to create a landscape representative of measured fuel conditions and to create models that interface with geospatial fire models.

09 BIOMASS FUELS↗

MoS 2 /TiO 2 heterostructures as nonmetal plasmonic photocatalysts for highly efficient hydrogen evolution

In this study, we report a nonmetal plasmonic MoS2@TiO2 heterostructure for highly efficient photocatalytic H2 generation. Large area laminated Z-scheme MoS2 in conjunction with TiO2 nanocavity arrays are achieved via carefully controlled anodization, physical vapor deposition, and chemical vapor deposition processes. Broad spectral response ranging from ultraviolet (UV)-visible (vis) to near-infrared (NIR) wavelengths and finite element frequency-domain simulation suggest that this MoS2@TiO2 heterostructured photocatalyst possesses an enhanced activity for H+ reduction. A high H2 yield rate of 580 mmol h-1 g-1 is achieved using a low catalyst loading mass of 10.2 μg. The spatially uniform heterostructure, correlated to plasmon-resonance through conformal coating MoS2 that effectively regulated charge transfer pathways, is proven to be vitally important for the unique solar energy harvesting and photocatalytic H2 production. As an innovative exploration, our study demonstrates that the photocatalytic activities of nonmetal, earth-abundant materials can be enhanced with plasmonic effects, which may serve as an excellent catalytic agent for solar energy conversion to chemical fuel. Periodically patterned MoS 2 /TiO 2 heterostructures were rationally designed as nonmetal plasmonic photocatalysts for highly efficient hydrogen evolution.

Environmental Molecular Sciences Laboratory↗

Structural origination of charge transfer complex nanostructures: Excellent candidate for field emission

Worldwide strategies for amalgamating rationally controlled one-dimensional organic nanowires are of fundamental importance for their applications in flexible, cheaper and lighter electronics. In this work we have fabricated large-area, ordered CuTCNQ (copper-7,7,8,8-tetracyanoquinodimethane) nano architecture arrays over flexible conducting substrate and discussed the rational growth and integration of nanostructures. Here we adopted the organic solid phase reaction (VLS) technique for the growth of organic hierarchies and investigated how field emission properties changes by tuning the nanostructures morphology i.e., by varying length, diameter, alignment and orientation over flexible substrate. The CuTCNQ nanowires with optimized geometry exhibit excellent high field emission performance with low turn-on and threshold field values. The result strongly indicate that CuTCNQ nanowires on flexible carbon cloth substrate are promising candidates for constructing cold cathode based emission display devices, vacuum nanoelectronics, and etc.

77 NANOSCIENCE AND NANOTECHNOLOGY↗

Design of coated standing nanowire array solar cell performing beyond the planar efficiency limits

The single standing nanowire (SNW) solar cells have been proven to perform beyond the planar efficiency limits in both open-circuit voltage and internal quantum efficiency due to the built-in concentration and the shifting of the absorption front. However, the expandability of these nano-scale units to a macro-scale photovoltaic device remains unsolved. The main difficulty lies in the simultaneous preservation of an effective built-in concentration in each unit cell and a broadband high absorption capability of their array. Here, we have provided a detailed theoretical guideline for realizing a macro-scale solar cell that performs furthest beyond the planar limits. The key lies in a complementary design between the light-trapping of the single SNWs and that of the photonic crystal slab formed by the array. By tuning the hybrid HE modes of the SNWs through the thickness of a coaxial dielectric coating, the optimized coated SNW array can sustain an absorption rate over 97.5% for a period as large as 425 nm, which, together with the inherited carrier extraction advantage, leads to a cell efficiency increment of 30% over the planar limit. This work has demonstrated the viability of a large-size solar cell that performs beyond the planar limits.

71 CLASSICAL AND QUANTUM MECHANICS, GENERAL PHYSIC↗

Self-regulated growth of candidate topological superconducting parkerite by molecular beam epitaxy

Ternary chalcogenides, such as parkerites and shandites, are a broad class of materials exhibiting a rich diversity of transport and magnetic behavior and an array of topological phases, including Weyl and Dirac nodes. However, they remain largely unexplored as high-quality epitaxial thin films. Here, we report the self-regulated growth of thin films of the strong spin–orbit coupled superconductor Pd 3 Bi 2 Se 2 on SrTiO 3 by molecular beam epitaxy. Films are found to grow in a self-regulated fashion, where, in excess Se, the temperature and relative flux ratio of Pd to Bi control the formation of Pd 3 Bi 2 Se 2 due to the combined volatility of Bi, Se, and Bi–Se bonded phases. The resulting films are shown to be of high structural quality, and the stoichiometry is independent of the Pd:Bi and Se flux ratio and exhibits a superconducting transition temperature of 800 mK and a critical field of 17.7 ± 0.5 mT, as probed by transport and magnetometry. Understanding and navigating the growth of the chemically and structurally diverse classes of ternary chalcogenides open a vast space for discovering new phenomena and enabling new applications.

75 CONDENSED MATTER PHYSICS, SUPERCONDUCTIVITY AND↗

THE SIZES OF THE NEAREST YOUNG STARS

We present moderate resolution (R {approx} 3575) optical spectra of 19 known or suspected members of the AB Doradus and {beta} Pictoris Moving Groups, obtained with the DeVeny Spectrograph on the 72 inch Perkins telescope at Lowell Observatory. For four of five recently proposed members, signatures of youth such as Li I 6708 A absorption and H{alpha} emission further strengthen the case for youth and membership. The lack of detected lithium in the proposed {beta} Pic member TYC 2211-1309-1 implies that it is older than all other K-type members and weakens the case for membership. Effective temperatures are determined via line ratio analyses for the 11 F, G, and early-K stars observed, and via spectral comparisons for the eight late-K and M stars observed. We assemble updated candidate membership lists for these moving groups that account for known binarity. Currently, the AB Dor Moving Group contains 127 proposed members and the {beta} Pic Moving Group holds 77 proposed members. We then use temperature, luminosity, and distance estimates to predict angular diameters for these stars; the motivation is to identify stars that can be spatially resolved with long-baseline optical/infrared interferometers in order to improve age estimates for these groups and to constrain evolutionary models at young ages. Considering the portion of the sky accessible to northern hemisphere facilities (decl. > - 30), six stars have diameters large enough to be spatially resolved ({theta} > 0.4 mas) with the CHARA Array, which currently has the world's longest baseline of 331 m; this subsample includes the low-mass M2.5 member of AB Dor, GJ 393, which is likely to still be pre-main sequence. For southern hemisphere facilities (decl. < + 30), 18 stars have diameters larger than this limiting size, including the low-mass debris disk star AU Mic (0.72 mas). However, the longest baselines of southern hemisphere interferometers (160 m) are only able to resolve the largest of these, the B6 star {alpha} Gru (1.17 mas); proposed long-baseline stations may alleviate the current limitations.

79 ASTRONOMY AND ASTROPHYSICS↗

Elementary wideband timing of radio pulsars

We present an algorithm for the simultaneous measurement of a pulse time-of-arrival (TOA) and dispersion measure (DM) from folded wideband pulsar data. We extend the prescription from Taylor's 1992 work to accommodate a general two-dimensional template 'portrait', the alignment of which can be used to measure a pulse phase and DM. We show that there is a dedispersion reference frequency that removes the covariance between these two quantities and note that the recovered pulse profile scaling amplitudes can provide useful information. We experiment with pulse modeling by using a Gaussian-component scheme that allows for independent component evolution with frequency, a 'fiducial component', and the inclusion of scattering. We showcase the algorithm using our publicly available code on three years of wideband data from the bright millisecond pulsar J1824–2452A (M28A) from the Green Bank Telescope, and a suite of Monte Carlo analyses validates the algorithm. By using a simple model portrait of M28A, we obtain DM trends comparable to those measured by more standard methods, with improved TOA and DM precisions by factors of a few. Measurements from our algorithm will yield precisions at least as good as those from traditional techniques, but is prone to fewer systematic effects and is without ad hoc parameters. A broad application of this new method for dispersion measure tracking with modern large-bandwidth observing systems should improve the timing residuals for pulsar timing array experiments, such as the North American Nanohertz Observatory for Gravitational Waves.

79 ASTRONOMY AND ASTROPHYSICS↗

Rapid metabolic pathway assembly and modification using serine integrase site-specific recombination

Synthetic biology requires effective methods to assemble DNA parts into devices and to modify these devices once made. Here we demonstrate a convenient rapid procedure for DNA fragment assembly using site-specific recombination by ΦC31 integrase. Using six orthogonal attP/attB recombination site pairs with different overlap sequences, we can assemble up to five DNA fragments in a defined order and insert them into a plasmid vector in a single recombination reaction. ΦC31 integrase-mediated assembly is highly efficient, allowing production of large libraries suitable for combinatorial gene assembly strategies. The resultant assemblies contain arrays of DNA cassettes separated by recombination sites, which can be used to manipulate the assembly by further recombination. We illustrate the utility of these procedures to (i) assemble functional metabolic pathways containing three, four or five genes; (ii) optimize productivity of two model metabolic pathways by combinatorial assembly with randomization of gene order or ribosome binding site strength; and (iii) modify an assembled metabolic pathway by gene replacement or addition.

59 BASIC BIOLOGICAL SCIENCES↗