bluuebunny/crossref_metadata_2025_split huggingface dataset:
Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation
Authors: Dominov Janice A. , Uyan Özgün , McKenna‐Yasek Diane , Nallamilli Babi Ramesh Reddy , Kergourlay Virginie , Bartoli Marc , Levy Nicolas , Hudson Judith , Evangelista Teresinha , Lochmuller Hanns , Krahn Martin , Rufibach Laura , Hegde Madhuri , Brown Robert H. 
Published: March 2019

AbstractObjectiveDysferlin is a large transmembrane protein that functions in critical processes of membrane repair and vesicle fusion. Dysferlin‐deficiency due to mutations in the dysferlin gene leads to muscular dystrophy (Miyoshi myopathy (MM), limb girdle muscular dystrophy type 2B (LGMD2B), distal myopathy with anterior tibial onset (DMAT)), typically with early adult onset. At least 416 pathogenic dysferlin mutations are known, but for approximately 17% of patients, one or both of their pathogenic variants remain undefined following standard exon sequencing methods that interrogate exons and nearby flanking intronic regions but not the majority of intronic regions.MethodsWe sequenced RNA from myogenic cells to identify a novel dysferlin pathogenic variant in two affected siblings that previously had only one disease‐causing variant identified. We designed antisense oligonucleotides (AONs) to bypass the effects of this mutation on RNA splicing.ResultsWe identified a new pathogenic point mutation deep within dysferlin intron 50i. This intronic variant causes aberrant mRNA splicing and inclusion of an additional pseudoexon (PE, we term PE50.1) within the mature dysferlin mRNA. PE50.1 inclusion alters the protein sequence, causing premature translation termination. We identified this mutation in 23 dysferlinopathy patients (seventeen families), revealing it to be one of the more prevalent dysferlin mutations. We used AON‐mediated exon skipping to correct the aberrant PE50.1 splicing events in vitro, which increased normal mRNA production and significantly restored dysferlin protein expression.InterpretationDeep intronic mutations can be a common underlying cause of dysferlinopathy, and importantly, could be treatable with AON‐based exon‐skipping strategies.
Rapid Engraving of Artificial Compound Eyes from Curved Sapphire Substrate
Authors: Liu Xue‐Qing , Yang Shuang‐Ning , Yu Lei , Chen Qi‐Dai , Zhang Yong‐Lai , Sun Hong‐Bo 
Published: March 2019

AbstractWith high thermal and mechanical stability, glass artificial compound eyes have great potential applications in wide field‐of‐view (FOV) imaging and fast detection. However, the rapid fabrication of large‐area, high integration, uniform, and well‐designed three‐dimensional (3D) glass compound eyes is still a great challenge. Here, a dry‐etching‐assisted femtosecond laser machining (DE‐FsLM) technology is proposed for fabrication of cm‐sized concave compound eye from a curved sapphire substrate, with which the fabrication efficiency can be improved by over two orders of magnitude compared with direct laser ablation. With high hardness and thermal stabilities, the sapphire concave compound eyes can be used as high‐temperature and hard‐casting templates for the replication of convex compound eyes on K9 glass. The replicated cm2‐size all‐glass compound eye consists of a spherical macrolens (1 cm diameter and 2.3 mm height) and over 190 000 close‐packed ommatidia (≈20 µm diameter and 1.5 µm height). The compound eyes exhibit excellent optical properties with wide FOV (up to 90°) imaging and focusing. These results indicate that the DE‐FsLM and casting replication technology will open new opportunities in micro‐/nanofabrication of hard materials.
Solids Under Extreme Shear: Friction‐Mediated Subsurface Structural Transformations
Authors: Greiner Christian , Gagel Johanna , Gumbsch Peter 
Published: March 2019

AbstractTribological contacts consume a significant amount of the world's primary energy due to friction and wear in different products from nanoelectromechanical systems to bearings, gears, and engines. The energy is largely dissipated in the material underneath the two surfaces sliding against each other. This subsurface material is thereby exposed to extreme amounts of shear deformation and often forms layered subsurface microstructures with reduced grain size. Herein, the elementary mechanisms for the formation of subsurface microstructures are elucidated by systematic model experiments and discrete dislocation dynamics simulations in dry frictional contacts. The simulations show how pre‐existing dislocations transform into prismatic dislocation structures under tribological loading. The stress field under a moving spherical contact and the crystallographic orientation are crucial for the formation of these prismatic structures. Experimentally, a localized dislocation structure at a depth of ≈100–150 nm is found already after the first loading pass. This dislocation structure is shown to be connected to the inhomogeneous stress field under the moving contact. The subsequent microstructural transformations and the mechanical properties of the surface layer are determined by this structure. These results hold promise at guiding material selection and alloy development for tribological loading, yielding materials tailored for specific tribological scenarios.
Recent Advances on Graphene Quantum Dots: From Chemistry and Physics to Applications
Authors: Yan Yibo , Gong Jun , Chen Jie , Zeng Zhiping , Huang Wei , Pu Kanyi , Liu Jiyang , Chen Peng 
Published: March 2019

AbstractGraphene quantum dots (GQDs) that are flat 0D nanomaterials have attracted increasing interest because of their exceptional chemicophysical properties and novel applications in energy conversion and storage, electro/photo/chemical catalysis, flexible devices, sensing, display, imaging, and theranostics. The significant advances in the recent years are summarized with comparative and balanced discussion. The differences between GQDs and other nanomaterials, including their nanocarbon cousins, are emphasized, and the unique advantages of GQDs for specific applications are highlighted. The current challenges and outlook of this growing field are also discussed.
Electrokinetically Controlled Asymmetric Ion Transport through 1D/2D Nanofluidic Heterojunctions
Authors: Ji Danyan , Wen Qi , Cao Liuxuan , Kang Qian , Lin Shaojun , Zhang Xiaopeng , Jiang Lei , Guo Wei 
Published: March 2019

AbstractSupported 2D layered materials are widely used in gas separation, water treatment, energy conversion, etc. In conventional viewpoint, the atop 2D membrane functions as an active layer for mass or charge separation in vapor or liquid phase, while the substrate membrane, containing aligned or tortuous 1D micro or nanoscaled fluidic channels, functions as a mechanical support. However, asymmetric transport property induced by the mixed‐dimensional composite structure is an equally very important, yet long‐overlooked element that endows new features to the membrane‐scale nanofluidic systems and contributes to the promotion of overall performance. Here, reported are asymmetric ion transport properties through 1D/2D nanofluidic heterojunction membrane (NFHM) under three different types of electrokinetic driving force. The 1D/2D NFHM comprises of self‐assembled graphene oxide multi‐layers (2DM, negatively charged) supported on a polydopamine‐coated 1D nanopore array (1DM, ampholytic). Intriguingly, it is found that the preferential direction for electric‐field‐driven ionic transport is from the 2DM to the 1DM, while under the concentration difference or the hydraulic flow, the preferred direction for diffusion or streaming ionic current goes in the reversed direction, from the 1DM to the 2DM. A theoretical model based on coupled Poisson–Nernst–Planck and Navier–Stokes equations is employed to explain the asymmetric ion transport phenomena.
Graphene Oxide: A Metal‐Free Carbocatalyst for the Synthesis of Diverse Amides under Solvent‐Free Conditions
Authors: Patel Khushbu P. , Gayakwad Eknath M. , Patil Vilas V. , Shankarling Ganapati S. 
Published: March 2019

AbstractAn environmentally friendly, inexpensive, carbocatalyst, graphene oxide (GO) promoted efficient, metal‐free transamidation of various carboxamides with aliphatic, cyclic, and aromatic amines is demonstrated. The protocol is equally applicable to phthalimide, urea, and thioamide determining its adaptability. The oxygenated functionalities such as carbonyl (−C=O), epoxy (−O−), carboxyl (−COOH) and hydroxyl (−OH), present on graphene oxide surface impart acidic properties to the catalyst. The graphene oxide being heterogeneous in nature, work efficiently under solvent‐free reaction conditions providing desired products in good to excellent yields. The one‐pot synthesis of 2,3‐Dihydro‐5H‐benzo[b]‐1,4‐thiazepin‐4‐one moiety by GO catalyzed Aza Michael addition followed by intramolecular transamidation is also described. A plausible reaction mechanistic pathway involving H‐bonding is discussed. The graphene oxide can be recycled and reused up to five cycles without much loss in catalytic activity.magnified image
Recent Developments and Perspectives for Memristive Devices Based on Metal Oxide Nanowires
Authors: Milano Gianluca , Porro Samuele , Valov Ilia , Ricciardi Carlo 
Published: March 2019

AbstractMemristive devices are considered one of the most promising candidates to overcome technological limitations for realizing next‐generation memories, logic applications, and neuromorphic systems in the modern nanoelectronics and information technology. Despite the continuous efforts, understanding the resistive switching mechanism underlying memristive/neuromorphic behavior still represents a challenge. Metal oxide nanowire‐based memristors appear suitable model systems for a deeper understanding of the involved physical/chemical phenomena due the possibility for localizing and investigating the switching mechanism. In practical aspects, nanowire‐based devices can be grown using a bottom‐up approach, thus being considered reliable candidates for going beyond the current scaling limitations of the top‐down approach by the standard lithography. In addition, taking into advantage of the high surface‐to‐volume ratio of these nanostructures, new device functionalities can be achieved by exploiting surface effects. In the literature, a variety of nanowire‐based devices such as single nanowires, nanowire arrays, and networks are reported to exhibit memristive behavior, explained by different switching mechanisms. This work provides a comparative review and a comprehensive analysis of device performances and physical phenomena responsible for memristive and neuromorphic behavior in such nanostructures. The analysis of the state‐of‐art of memristor devices based on nanowires and nanorods represent a milestone toward the development of nanowire‐based artificial neural networks.
Multiscale modeling and control of Kappa number and porosity in a batch‐type pulp digester
Authors: Choi Hyun‐Kyu , Kwon Joseph Sang‐Il 
Published: March 2019

AbstractThis work proposes a multiscale modeling and model‐based feedback control framework for the delignification process in a batch‐type pulp digester. Specifically, we focus on a hardwood chip in the digester and develop a multiscale model capturing both the evolution of microscopic properties such as the pore size and shape distributions in the solid phase and the dynamic changes in the temperature and component concentrations in the liquor phase. While the macroscopic model adopts the continuum hypothesis based on the Purdue model, a novel microscopic model is developed using a kinetic Monte Carlo algorithm, accounting for the dissolution of lignin, cellulose, and hemicellulose contacting the liquor phase. A reduced‐order model was built to design a Luenberger observer for state estimation, which is then used to develop a model‐based control system. The simulation results demonstrated that the proposed methodology was able to regulate both the Kappa number and porosity to desired values.
A MnIIMnIII‐Peroxide Complex Capable of Aldehyde Deformylation
Authors: Magherusan Adriana M. , Kal Subhasree , Nelis Daniel N. , Doyle Lorna M. , Farquhar Erik R. , Que Lawrence , McDonald Aidan R. 
Published: March 2019

AbstractRibonucleotide reductases (RNRs) are essential enzymes required for DNA synthesis. In class Ib Mn2 RNRs superoxide (O2.−) was postulated to react with the MnII2 core to yield a MnIIMnIII‐peroxide moiety. The reactivity of complex 1 ([MnII2(O2CCH3)2(BPMP)](ClO4), where HBPMP=2,6‐bis{[(bis(2‐pyridylmethyl)amino]methyl}‐4‐methylphenol) towards O2.− was investigated at −90 °C, generating a metastable species, 2. The electronic absorption spectrum of 2 displayed features (λmax=440, 590 nm) characteristic of a MnIIMnIII‐peroxide species, representing just the second example of such. Electron paramagnetic resonance and X‐ray absorption spectroscopies, and mass spectrometry supported the formulation of 2 as a MnIIMnIII‐peroxide complex. Unlike all other previously reported Mn2‐peroxides, which were unreactive, 2 proved to be a capable oxidant in aldehyde deformylation. Our studies provide insight into the mechanism of O2‐activation in Class Ib Mn2 RNRs, and the highly reactive intermediates in their catalytic cycle.
Eight‐Step Total Synthesis of Phalarine by Bioinspired Oxidative Coupling of Indole and Phenol
Authors: Li Lei , Yuan Kuo , Jia Qianlan , Jia Yanxing 
Published: March 2019

AbstractWe report for the first time that the benzofuro[3,2‐b]indoline framework could be obtained by PIDA‐mediated direct oxidative coupling of 2,3‐disubstituted‐indoles with phenols. Application of this chemistry allows for an eight‐step total synthesis of phalarine from commercially available tryptamine.
Ligand‐Based Control of Single‐Site vs. Multi‐Site Reactivity by a Trichromium Cluster
Authors: Bartholomew Amymarie K. , Juda Cristin E. , Nessralla Jonathon N. , Lin Benjamin , Wang SuYin Grass , Chen Yu‐Sheng , Betley Theodore A. 
Published: March 2019

AbstractThe trichromium cluster (tbsL)Cr3(thf) ([tbsL]6−=[1,3,5‐C6H9(NC6H4‐o‐NSitBuMe2)3]6−) exhibits steric‐ and solvation‐controlled reactivity with organic azides to form three distinct products: reaction of (tbsL)Cr3(thf) with benzyl azide forms a symmetrized bridging imido complex (tbsL)Cr3(μ3‐NBn); reaction with mesityl azide in benzene affords a terminally bound imido complex (tbsL)Cr3(μ1‐NMes); whereas the reaction with mesityl azide in THF leads to terminal N‐atom excision from the azide to yield the nitride complex (tbsL)Cr3(μ3‐N). The reactivity of this complex demonstrates the ability of the cluster‐templating ligand to produce a well‐defined polynuclear transition metal cluster that can access distinct single‐site and cooperative reactivity controlled by either substrate steric demands or reaction media.
Lipase‐catalyzed synthesis of epigallocatechin gallate‐based polymer for long‐term release of epigallocatechin gallate with antioxidant property
Authors: Nitta Sachiko , Iwamoto Hiroyuki 
Published: March 2019

ABSTRACTEpigallocatechin gallate (EGCG) must be released in a controlled manner in order to maximize its long‐term potential as an antioxidant. In this study, lipase‐catalyzed polymerization of EGCG with divinyl adipate and sugar alcohols was conducted to form polyEGCG, which enables long‐term controlled release of EGCG via hydrolysis of ester linkages. The polymer yields were influenced by monomer ratios, volume of solvent, and lipase concentration. EGCG was gradually released from polyEGCG under a physiological condition as ester groups of polyEGCG degraded over a period of more than two months, and the releasing rate was influenced by the type of the sugar alcohols and EGCG ratios. EGCG released from polyEGCG maintained its antioxidant activity and the cell viability of polyEGCG eluent with polymer concentration higher than 0.05 mg/mL was as high as 100%. These results indicate that polyEGCG has potential application as a highly efficient and long‐term antioxidative material with low cytotoxicity. © 2019 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 2019, 136, 47693.
Basic skills examination in a biochemical practical training program for undergraduate students
Authors: Sakiyama Haruhiko , Eguchi Hironobu , Yoshihara Daisaku , Ookawara Tomomi , Naruse Hitoshi , Fujiwara Noriko , Suzuki Keiichiro 
Published: March 2019

AbstractUniversity lectures are mainly passive in nature, and there are few subjects in which students need to learn and function independently. Tutorial education and related activities at universities that specialize in medical and pharmaceutical training have been actively carried out, and lectures in conjunction with practical skills are gradually being developed, although progress has been slow in this area. In past years, our biochemistry practice classes have been evaluated in reports dealing with experiments and written examinations, as is done in other universities. However, using this methodology, we are not able to evaluate the extent to which students master biochemical experimental skills. To address this, we introduced a basic skill test to our biochemical curriculum for the first time. Our exams contributed to a deeper understanding of student skills and could be good tools for evaluating the degree of understanding of the students. The students understood the contents of the training well and felt interested in research in the field of basic medicine. Thus, we conclude that introducing practical testing to biochemical practice was effective for medical students in the field of biochemistry. © 2019 International Union of Biochemistry and Molecular Biology, 47(3):279–287, 2019.
3D Raman Spectroscopy of Large Zeolite ZSM‐5 Crystals
Authors: Attila Özgün , King Helen E. , Meirer Florian , Weckhuysen Bert M. 
Published: March 2019

AbstractHydrothermal treatment is a common method used to modify the physicochemical properties of zeolite‐based catalyst materials. It alters the number and type of acid sites through dealumination and increases molecular diffusion by mesopore formation. Steaming also reduces the structural integrity of zeolite frameworks. In this study, Raman microscopy has been used to map large zeolite ZSM‐5 crystals before and after steaming. 3D elemental maps of T−O (T: Al or Si) sites of the zeolite were obtained. The Raman active vibrational bands were determined, which are indicative of (non‐) framework Al, as well as of structural integrity. Zeolite steaming caused the introduction of additional heterogeneities within the zeolite framework. Al migration and the formation of extra‐framework Al species were observed. The described experiments demonstrate the capability of 3D Raman spectroscopy as a valuable tool to obtain information on the spatial distributions of framework elements as well as defects within a zeolite‐based material.
Visual scanning during emotion recognition in long‐term recovered anorexia nervosa: An eye‐tracking study
Authors: Dinkler Lisa , Rydberg Dobrescu Sandra , Råstam Maria , Gillberg I. Carina , Gillberg Christopher , Wentz Elisabet , Hadjikhani Nouchine 
Published: March 2019

AbstractObjectiveTo examine Facial Emotion Recognition (FER) and visual scanning behavior (eye‐tracking) during FER in women long‐term recovered from teenage‐onset anorexia nervosa (recAN) with and without autism spectrum disorder (±ASD) and age‐matched comparison women (COMP), using a sensitive design with facial emotion expressions at varying intensities in order to approximate real social contexts.MethodFifty‐seven 38–47‐year‐old women (26 recAN of whom six with ASD, 31 COMP) participated in the study. They completed a non‐verbal FER task, consisting of matching basic emotions at different levels of expression intensity with full emotional expressions. Accuracy, response time and visual scanning behavior were measured.ResultsThere were no differences between recAN‐ASD and COMP in FER accuracy and visual scanning behavior during FER, including eye viewing and hyperscanning. In an exploratory analysis, recAN+ASD were more accurate than recAN‐ASD in identifying expressions at low intensity, but not at medium or high expression intensity. Accuracy was not associated with the extent of attention to the eye region.DiscussionOur data indicate that women long‐term recovered from adolescent‐onset AN do not have deficits in basic FER ability and visual scanning behavior during FER. However, the presence of comorbid ASD might affect face processing in recovered AN. Future studies investigating basic FER in acute and recovered AN and other conditions need to ensure that the stimuli used are sensitive enough to detect potential deficits.
Multi‐state open robust design applied to opportunistic data reveals dynamics of wide‐ranging taxa: the sperm whale case
Authors: Boys Rebecca M. , Oliveira Cláudia , Pérez‐Jorge Sergi , Prieto Rui , Steiner Lisa , Silva Mónica A. 
Published: March 2019

AbstractCapture–mark–recapture methods have been extensively used to estimate abundance, demography, and life history parameters of populations of several taxa. However, the high mobility of many species means that dedicated surveys are logistically complicated and expensive. Use of opportunistic data may be an alternative, if modeling takes into account the inevitable heterogeneity in capture probability from imperfect detection and incomplete sampling, which can produce significant bias in parameter estimates. Here, we compare covariate‐based open Jolly‐Seber models (POPAN) and multi‐state open robust design (MSORD) models to estimate demographic parameters of the sperm whale population summering in the Azores, from photo‐identification data collected opportunistically by whale‐watching operators and researchers. The structure of the MSORD also allows for extra information to be obtained, estimating temporary emigration and improving precision of estimated parameters. Estimates of survival from both POPAN and MSORD were high, constant, and very similar. The POPAN model, which partially accounted for heterogeneity in capture probabilities, estimated an unbiased super‐population of ~1470 whales, with annual abundance showing a positive trend from 351 individuals (95% CI: 234–526) in 2010 to 718 (95% CI: 477–1082) in 2015. In contrast, estimates of abundance from MSORD models that explicitly incorporated imperfect detection due to temporary emigration were less biased, more precise, and showed no trend over years, from 275 individuals (95% CI: 188–404) in 2014 to 367 (95% CI: 248–542) in 2012. The MSORD estimated short residence time and an even‐flow temporary emigration, meaning that the probability of whales emigrating from and immigrating to the area was equal. Our results illustrate how failure to account for transience and temporary emigration can lead to biased estimates and trends in abundance, compromising our ability to detect true population changes. MSORD models should improve inferences of population dynamics, especially when capture probability is low and highly variable, due to wide‐ranging behavior of individuals or to non‐standardized sampling. Therefore, these models should provide less biased estimates and more accurate assessments of uncertainty that can inform management and conservation measures.