bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia
Authors: Kadnikova V. A. , Rudenskaya G. E. , Stepanova A. A. , Sermyagina I. G. , Ryzhkova O. P. 
Published: October 2019

AbstractHereditary spastic paraplegia (HSP) comprises a heterogeneous group of neurodegenerative disorders, it share common symptom - of progressive lower spastic paraparesis. The most common autosomal dominant (AD) forms of HSP are SPG4 (SPAST gene) and SPG3 (ATL1 gene). In the current research we investigated for the first time the distribution of pathogenic mutations in SPAST and ATL1 genes within a large cohort of Russian HSP patients (122 probands; 69 famillial cases). We determined the frequencies of genetic abnormalities using Sanger sequencing, multiplex ligation-dependent probe amplification (MLPA), and Next Generation Sequencing (NGS) of targeted gene panels. As a result, SPG4 was diagnosed in 30.3% (37/122) of HSP cases, where the familial cases represented 37.7% (26/69) of SPG4. In total 31 pathogenic and likely pathogenic variants were detected in SPAST, with 14 new mutations. Among all detected SPAST variants, 29% were gross deletions and duplications. The proportion of SPG3 variants in Russian cohort was 8.2% (10/122) that were all familial cases. All 10 detected ATL1 mutations were missense substitutions, most of which were in the mutational hot spots of 4, 7, 8, 12 exons, with 2 novel mutations. This work will be helpful for the populational genetics of HSP understanding.
Cross-modal size-contrast illusion: Acoustic increases in intensity and bandwidth modulate haptic representation of object size
Authors: Uesaki Maiko , Ashida Hiroshi , Kitaoka Akiyoshi , Pasqualotto Achille 
Published: October 2019

AbstractChanges in the retinal size of stationary objects provide a cue to the observer’s motion in the environment: Increases indicate the observer’s forward motion, and decreases backward motion. In this study, a series of images each comprising a pair of pine-tree figures were translated into auditory modality using sensory substitution software. Resulting auditory stimuli were presented in an ascending sequence (i.e. increasing in intensity and bandwidth compatible with forward motion), descending sequence (i.e. decreasing in intensity and bandwidth compatible with backward motion), or in a scrambled order. During the presentation of stimuli, blindfolded participants estimated the lengths of wooden sticks by haptics. Results showed that those exposed to the stimuli compatible with forward motion underestimated the lengths of the sticks. This consistent underestimation may share some aspects with visual size-contrast effects such as the Ebbinghaus illusion. In contrast, participants in the other two conditions did not show such magnitude of error in size estimation; which is consistent with the “adaptive perceptual bias” towards acoustic increases in intensity and bandwidth. In sum, we report a novel cross-modal size-contrast illusion, which reveals that auditory motion cues compatible with listeners’ forward motion modulate haptic representations of object size.
Maternal physical activity prevents the overexpression of hypoxia-inducible factor 1-α and cardiorespiratory dysfunction in protein malnourished rats
Authors: Nogueira Viviane O. , Andrade Luana D. S. , Rocha-Júnior Reginaldo L. , Melo Palloma E. D. , Helvécio Elisama , Fontes Danilo A. F. , Romão Tatiany P. , Leandro Carol G. , Costa-Silva João H. 
Published: October 2019

AbstractMaternal physical activity attenuates cardiorespiratory dysfunctions and transcriptional alterations presented by the carotid body (CB) of rats. Rats performed physical activity and were classified as inactive/active. During gestation and lactation, mothers received either normoprotein (NP-17% protein) or low-protein diet (LP-8% protein). In offspring, biochemical serum levels, respiratory parameters, cardiovascular parameters and the mRNA expression of hypoxia-inducible factor 1-alpha (HIF-1α), tyrosine hydroxylase (TH) and purinergic receptors were evaluate. LP-inactive pups presented lower RF from 1st to 14th days old, and higher RF at 30 days than did NP-inactive and NP-active pups. LP-inactive pups presented with reduced serum protein, albumin, cholesterol and triglycerides levels and an increased fasting glucose level compared to those of NP-inactive and NP-active groups. LP and LP-inactive animals showed an increase in the cardiac variability at the Low-Frequency bands, suggesting a major influence of sympathetic nervous activity. In mRNA analyses, LP-inactive animals showed increased HIF-1α expression and similar expression of TH and purinergic receptors in the CB compared to those of NP groups. All these changes observed in LP-inactive pups were reversed in the pups of active mothers (LP-active). Maternal physical activity is able to attenuate the metabolic, cardiorespiratory and HIF-1α transcription changes induced by protein malnutrition.
Data Descriptor: Daily observations of stable isotope ratios of rainfall in the tropics
Authors: Munksgaard Niels C. , Kurita Naoyuki , Sánchez-Murillo Ricardo , Ahmed Nasir , Araguas Luis , Balachew Dagnachew L. , Bird Michael I. , Chakraborty Supriyo , Kien Chinh Nguyen , Cobb Kim M. , Ellis Shelby A. , Esquivel-Hernández Germain , Ganyaglo Samuel Y. , Gao Jing , Gastmans Didier , Kaseke Kudzai F. , Kebede Seifu , Morales Marcelo R. , Mueller Moritz , Poh Seng Chee , Santos Vinícius dos , Shaoneng He , Wang Lixin , Yacobaccio Hugo , Zwart Costijn 
Published: October 2019

AbstractWe present precipitation isotope data (δ2H and δ18O values) from 19 stations across the tropics collected from 2012 to 2017 under the Coordinated Research Project F31004 sponsored by the International Atomic Energy Agency. Rainfall samples were collected daily and analysed for stable isotopic ratios of oxygen and hydrogen by participating laboratories following a common analytical framework. We also calculated daily mean stratiform rainfall area fractions around each station over an area of 5° x 5° longitude/latitude based on TRMM/GPM satellite data. Isotope time series, along with information on rainfall amount and stratiform/convective proportions provide a valuable tool for rainfall characterisation and to improve the ability of isotope-enabled Global Circulation Models to predict variability and availability of inputs to fresh water resources across the tropics.
Improvement of the Pacific bluefin tuna (Thunnus orientalis) reference genome and development of male-specific DNA markers
Authors: Suda Ayako , Nishiki Issei , Iwasaki Yuki , Matsuura Aiko , Akita Tetsuya , Suzuki Nobuaki , Fujiwara Atushi 
Published: October 2019

AbstractThe Pacific bluefin tuna,Thunnus orientalis, is a highly migratory species that is widely distributed in the North Pacific Ocean. Like other marine species,T. orientalishas no external sexual dimorphism; thus, identifying sex-specific variants from whole genome sequence data is a useful approach to develop an effective sex identification method. Here, we report an improved draft genome ofT. orientalisand male-specific DNA markers. Combining PacBio long reads and Illumina short reads sufficiently improved genome assembly, with a 38-fold increase in scaffold contiguity (to 444 scaffolds) compared to the first published draft genome. Through analysing re-sequence data of 15 males and 16 females, 250 male-specific SNPs were identified from more than 30 million polymorphisms. All male-specific variants were male-heterozygous, suggesting thatT. orientalishas a male heterogametic sex-determination system. The largest linkage disequilibrium block (3,174 bp on scaffold_064) contained 51 male-specific variants. PCR primers and a PCR-based sex identification assay were developed using these male-specific variants. The sex of 115 individuals (56 males and 59 females; sex was diagnosed by visual examination of the gonads) was identified with high accuracy using the assay. This easy, accurate, and practical technique facilitates the control of sex ratios in tuna farms. Furthermore, this method could be used to estimate the sex ratio and/or the sex-specific growth rate of natural populations.
A wearable and sensitive graphene-cotton based pressure sensor for human physiological signals monitoring
Authors: Li Ping , Zhao Libo , Jiang Zhuangde , Yu Mingzhi , Li Zhen , Zhou Xiangyang , Zhao Yulong 
Published: October 2019

AbstractCotton fiber is the most commonly used fabric in textiles and clothing. As compared to inorganic materials like foam, sponge and paper, cotton fibers boast higher levels of flexibility and toughness, which makes it more durable and be better integrated with clothes. In this study, a conductive cotton fiber material modified by reduced graphene oxide (rGO) was prepared, and applied in pressure sensor. The highest sensitivity of the pressure sensor constructed is 0.21 kPa−1, and the pressure range covers up to 500 kPa, which demonstrates a combination of fine sensitivity and broader pressure range. The pressure sensor developed in this study demonstrates great performance in real-time monitoring of human physiological signals like pulse, breath rate and speech recognition, boasting great application value in wearable electronics and smart clothing.
Functional regulation of von Willebrand factor ameliorates acute ischemia-reperfusion kidney injury in mice
Authors: Ono Shiro , Matsui Hideto , Noda Masashi , Kasuda Shogo , Yada Noritaka , Yoshimoto Kiyomi , Akiyama Masashi , Miyata Toshiyuki , Sugimoto Mitsuhiko , Nishio Kenji 
Published: October 2019

AbstractAcute kidney injury (AKI), an abrupt loss of renal function, is often seen in clinical settings and may become fatal. In addition to its hemostatic functions, von Willebrand factor (VWF) is known to play a role in cross-talk between inflammation and thrombosis. We hypothesized that VWF may be involved in the pathophysiology of AKI, major causes of which include insufficient renal circulation or inflammatory cell infiltration in the kidney. To test this hypothesis, we studied the role of VWF in AKI using a mouse model of acute ischemia-reperfusion (I/R) kidney injury. We analyzed renal function and blood flow in VWF-gene deleted (knock-out; KO) mice. The functional regulation of VWF by ADAMTS13 or a function-blocking anti-VWF antibody was also evaluated in this pathological condition. Greater renal blood flow and lower serum creatinine were observed after reperfusion in VWF-KO mice compared with wild-type (WT) mice. Histological analysis also revealed a significantly lower degree of tubular damage and neutrophil infiltration in kidney tissues of VWF-KO mice. Both human recombinant ADAMTS13 and a function-blocking anti-VWF antibody significantly improved renal blood flow, renal function and histological findings in WT mice. Our results indicate that VWF plays a role in the pathogenesis of AKI. Proper functional regulation of VWF may improve the microcirculation and vessel function in the kidney, suggesting a novel therapeutic option against AKI.
Modulation of PTH1R signaling by an ECD binding antibody results in inhibition of β-arrestin 2 coupling
Authors: Sarkar Kaushik , Joedicke Lisa , Westwood Marta , Burnley Rebecca , Wright Michael , McMillan David , Byrne Bernadette 
Published: October 2019

AbstractParathyroid hormone receptor 1 (PTH1R) belongs to the secretin class of G protein coupled receptors (GPCRs) and natively binds parathyroid hormone (PTH) and parathyroid hormone related peptide (PTHrP). Ligand binding to PTH1R involves binding to the large extracellular domain (ECD) and the orthosteric pocket, inducing conformational changes in the transmembrane domain and receptor activation. PTH1R regulates bone metabolism, signaling mainly through Gs and Gq/11 G-proteins. Here, we used phage display to generate PTH1R ECD-specific antibodies with the aim of modulating receptor functionality. We identified ECD-scFvhFc, which exhibited high affinity binding to both the isolated ECD and to the full-length receptor in styrene-maleic acid (SMA) lipid particles. Epitope mapping using hydrogen-deuterium exchange mass spectrometry (HDX-MS) indicates that the α1 helix of the ECD is ECD-scFvhFc’s epitope which may partially overlap with the known PTH (1–34) binding site. However, PTH (1–34)-mediated Gs activation is Undisturbed by ECD-scFvhFc binding. In contrast, ECD-scFvhFc potently inhibits β-arrestin-2 recruitment after PTH (1–34)-driven receptor activation and thus represents the first monoclonal antibody to selectively inhibit distinct PTH1R signaling pathways. Given the complexity of PTH1R signaling and the emerging importance of biased GPCR activation in drug development, ECD-scFvhFc could be a valuable tool to study PTH1R signaling bias.
HyPer2 imaging reveals temporal and heterogeneous hydrogen peroxide changes in denervated and aged skeletal muscle fibers in vivo
Authors: Staunton C. A. , Owen E. D. , Pollock N. , Vasilaki A. , Barrett-Jolley R. , McArdle A. , Jackson M. J. 
Published: October 2019

AbstractTo determine the role of denervation and motor unit turnover in the age-related increase in skeletal muscle oxidative stress, the hydrogen peroxide (H2O2) specific, genetically-encoded, fluorescentcyto-HyPer2probe was expressed in mouse anterior tibialis (AT) muscle and compared withex vivomeasurements of mitochondrial oxidant generation. Crush of the peroneal nerve induced increased mitochondrial peroxide generation, measured in permeabilised AT fibersex vivoandintra vitalconfocal microscopy ofcyto-HyPer2fluorescence showed increased cytosolic H2O2in a sub-set (~24%) of individual fibers associated with onset of fiber atrophy. In comparison, mitochondrial peroxide generation was also increased in resting muscle from old (26 month) mice compared with adult (6–8 month) mice, but no age effect on fiber cytosolic H2O2in vivowas seen. Thus ageing is associated with an increased ability of muscle fibers to maintain cytosolic redox homeostasis in the presence of denervation-induced increase in mitochondrial peroxide generation.
Autocatalytic amplification of Alzheimer-associated Aβ42 peptide aggregation in human cerebrospinal fluid
Authors: Frankel Rebecca , Törnquist Mattias , Meisl Georg , Hansson Oskar , Andreasson Ulf , Zetterberg Henrik , Blennow Kaj , Frohm Birgitta , Cedervall Tommy , Knowles Tuomas P. J. , Leiding Thom , Linse Sara 
Published: October 2019

AbstractAlzheimer’s disease is linked to amyloid β (Aβ) peptide aggregation in the brain, and a detailed understanding of the molecular mechanism of Aβ aggregation may lead to improved diagnostics and therapeutics. While previous studies have been performed in pure buffer, we approach the mechanism in vivo using cerebrospinal fluid (CSF). We investigated the aggregation mechanism of Aβ42 in human CSF through kinetic experiments at several Aβ42 monomer concentrations (0.8–10 µM). The data were subjected to global kinetic analysis and found consistent with an aggregation mechanism involving secondary nucleation of monomers on the fibril surface. A mechanism only including primary nucleation was ruled out. We find that the aggregation process is composed of the same microscopic steps in CSF as in pure buffer, but the rate constant of secondary nucleation is decreased. Most importantly, the autocatalytic amplification of aggregate number through catalysis on the fibril surface is prevalent also in CSF.
Efficient active multiplier‐based signal source for >300 GHz system applications
Authors: Hossain M. , Boppel S. , Heinrich W. , Krozer V. 
Published: October 2019

This Letter presents a 300 GHz signal source, realised using an 800 nm transferred‐substrate InP double heterojunction bipolar transistor process. The source is based on an active frequency tripler. It delivers −1.6 dBm peak output power at 306 GHz. The DC consumption is only 36 mW, which corresponds to 2% conversion efficiency. The measured tripler achieves more than 30 GHz bandwidth and exhibits very low unwanted harmonics. The chip area of the source is only 0.94 × 0.84 mm2.
Frequency‐modulated continuous‐wave light detection and ranging with sinusoidal frequency modulation and beat phase detection
Authors: Tsuchida H. 
Published: October 2019

The performance of a frequency‐modulated continuous‐wave light detection and ranging is severely limited by the inherent non‐linear chirp when laser diodes with direct frequency modulation are used as light sources. The author proposes and demonstrates a new modulation and detection scheme that is immune to non‐linear chirp. Sinusoidal frequency modulation and beat phase detection are employed for measuring both the velocity and distance of a target. Relative accuracies below ± 2 mm/s and ± 1 mm are confirmed for velocity and distance measurements, respectively, in the proof‐of‐principle experiment.
Study on the effects of rotor‐step skewing on the vibration and noise of a PMSM for electric vehicles
Authors: Wang Xiaoyuan , Sun Xibin , Gao Peng 
Published: October 2019

Radial force is the main cause of electromagnetic vibration and noise in motors. In this study, the vibration and noise characteristics of a permanent magnet synchronous motor (PMSM) with consideration of rotor‐step skewing are investigated. Firstly, the analytical model of considering rotor‐step skewing is deduced based on the Maxwell stress tensor method. The influence of rotor‐step skewing on of the PMSM is then analysed and summarised. Taking a 65 kW PMSM commonly used in electric vehicles as an example, combined with electromagnetic finite element analysis, is then evaluated. Secondly, an electromagnetic vibration and noise simulation analysis is conducted based on a multi‐physical field joint simulation platform, from which the influence of rotor‐step skewing on the vibration and noise is then summarised. Finally, a noise experiment is then carried out. The results obtained from the multi‐physical analysis and the tests conducted are presented to validate the precision of the simulation models, and the accuracy of the analytical model of .
FRA modelling for diagnosing axial displacement of windings in traction transformers
Authors: Zhou Lijun , Jiang Junfei , Li Wei , Wu Zhenyu , Gao Shibin , Guo Lei , Liu Hongwen 
Published: October 2019

The windings of a traction transformer are always be threatened by the fluctuation of the load. Frequency response analysis (FRA) is regarded as the most effective method to diagnose the winding deformation. Appropriate FRA modelling method may help to predict typical winding faults for large transformers. The existing model usually simplify dozens of winding disks into several disks, it is applicable when analysing small displacement. However, when the disks between windings are seriously misplaced, the conventional model may not be suitable. This study presents an improved lumped parameter circuit model considering intersection capacitances and mutual inductance between windings. The feasibility of the proposed model is verified based on a 10 kV test transformer. Finally, the model is applied for a 220 kV traction transformer, the variation of parameters and features are analysed for axial displacement of different windings. The results show that the axial displacement may lead to increase of resonance frequency and decrease of amplitude. The low‐frequency band (1–30 kHz) may be regarded as visible features for diagnosing axial displacement of H winding and the middle frequency band (50–200 kHz) may be a characteristic band for diagnosing axial displacement of T winding.
Hybrid 3.3 kV/450 A half‐bridge IGBT power module with SiC Schottky barrier diodes
Authors: Li Daohui , Luo Haoze , Huang Yue , Li Xiang , Qi Fang , Packwood Matthew , Luo Haihui , Chen Ximing , Li Chengzhan , Wang Yangang , Dai Xiaoping , Liu Guoyou 
Published: October 2019

This work presents a hybrid 3.3kV/450 A insulated‐gate bipolar transistor (IGBT) power module, utilising the half‐bridge topology. In contrast to the traditional fashion, each IGBT chip in this module is allocated with two anti‐parallel silicon carbide (SiC) Schottky barrier diodes (SBDs). Each SBD describes smaller footprint than the conventionally used silicone (Si) based fast recovery diode at this voltage and current level. By adopting smaller SiC SBDs in this hybrid‐style packaging structure, the SBD chip yield can be greatly improved, without any additional fabrication cost. To benchmark the advantages of this hybrid power module over the Si‐based counterpart, both power modules are designed, fabricated as well as tested statically and dynamically. It is shown that while both types show similar thermal behaviour, the hybrid power module describes much lower IGBT turn‐on current overshooting, diode reverse recovery loss and IGBT turn‐on loss. Based on the measured results, the power losses of both modules under a three‐phase inverter operation condition are calculated, showing that the hybrid module has considerably lower power losses and junction temperature rise.
Robust single‐phase inverter based on the buck–boost converter through an efficient hybrid control
Authors: Yalcin Faruk , Arifoglu Ugur , Yazici Irfan , Erin Kenan 
Published: October 2019

This study presents a new and robust single‐phase inverter based on the buck–boost converter. The proposed inverter topology has minimised numbers of active and passive elements that provide less complexity and cost. Unlike similar studies in the literature, an efficient hybrid control technique is used for the control of the inverter operation. The hybrid control technique is comprised of the traditional feedback proportional–integral–derivative (PID) controller and the new proposed open‐loop control technique called ‘control law’. This hybrid control technique provides stable and high response performance operation for the proposed inverter while the system parameters change. The proposed inverter can operate with a wide range of output frequency and output voltage value on different load conditions while satisfying <5% voltage total harmonic distortion (THD) value of the output voltage. An experimental laboratory setup with the values of 0.5 kW, 0–100 Vp and 0–50 Hz is built for the proposed inverter. The experimental results demonstrate that the proposed inverter can produce high‐quality output voltage with <5% THD on different input and output system parameters.
DC voltage deviation‐dependent voltage droop control method for VSC‐MTDC systems under large disturbances
Authors: Wang Yizhen , Li Bin , Zhou Zexin , Chen Zhengguang , Wen Weijie , Li Xialin , Wang Chengshan 
Published: October 2019

Along with the increasing demand of large power transfer and integration of renewable energy sources, voltage source converter based multi‐terminal high‐voltage DC (VSC‐MTDC) technology has represented both challenges and opportunities. However, the DC voltage of the droop‐controlled VSC station may exceed the DC voltage limits when facing large disturbances, thereby losing the DC voltage control and power sharing capabilities. To tackle this problem, a DC voltage deviation‐dependent voltage droop control method (VDM) is proposed to change the droop coefficients adaptively when large disturbances occur, not only retaining the advantages of the fixed VDM in the steady state, but also preventing frequent adjustments of the droop coefficients in the transient state. The basic analytical model of droop‐controlled VSC is analysed first, and then the generalised linear model of VSC‐MTDC is derived based on the restrict requirements of DC voltage deviation. The DC voltage deviation‐dependent VDM is derived from the generalised linear model of the VDC‐MTDC. Case studies and simulations of a ±320 kV VSC‐MTDC system are conducted in PSCAD/EMTDC software to validate the effectiveness of the proposed DC voltage deviation‐dependent VDM.