bluuebunny/crossref_metadata_2025_split huggingface dataset:
Enrichment of genomic variation in pathways linked to autism
Authors: Esteban Francisco J. , Tonellato Peter J. , Wall Dennis P. 
Published: October 2020

AbstractThe genetic heterogeneity of autism has stymied the search for causes and cures. Even whole-genomic studies on large numbers of families have yielded results of relatively little impact. In the present work, we analyze two genomic databases using a novel strategy that takes prior knowledge of genetic relationships into account and that was designed to boost signal important to our understanding of the molecular basis of autism. Our strategy was designed to identify significant genomic variation withina prioridefined biological concepts and improves signal detection while lessening the severity of multiple test correction seen in standard analysis of genome-wide association data. Upon application of our approach using 3,244 biological concepts, we detected genomic variation in 68 biological concepts with significant association to autism in comparison to family-based controls. These concepts clustered naturally into a total of 19 classes, principally including cell adhesion, cancer, and immune response. The top-ranking concepts contained high percentages of genes already suspected to play roles in autism or in a related neurological disorder. In addition, many of the sets associated with autism at the DNA level also proved to be predictive of changes in gene expression within a separate population of autistic cases, suggesting that the signature of genomic variation may also be detectable in blood-based transcriptional profiles. This robust cross-validation with gene expression data from individuals with autism coupled with the enrichment within autism-related neurological disorders supported the possibility that the mutations play important roles in the onset of autism and should be given priority for further study. In sum, our work provides new leads into the genetic underpinnings of autism and highlights the importance of reanalysis of genomic studies of complex disease using prior knowledge of genetic organization.Author SummaryThe genetic heterogeneity of autism has stymied the search for causes and cures. Even whole-genomic studies on large numbers of families have yielded results of relatively little impact. In the present work, we reanalyze two of the most influential whole-genomic studies using a novel strategy that takes prior knowledge of genetic relationships into account in an effort to boost signal important to our understanding of the molecular structure of autism. Our approach demonstrates that these genome wide association studies contain more information relevant to autism than previously realized. We detected 68 highly significant collections of mutations that map to genes with measurable and significant changes in gene expression in autistic individuals, and that have been implicated in other neurological disorders believed to be closely related, and genetically linked, to autism. Our work provides leads into the genetic underpinnings of autism and highlights the importance of reanalysis of genomic studies of disease using prior knowledge of genetic organization.
Cohesin components Stag1 and Stag2 differentially influence haematopoietic mesoderm development in zebrafish embryos
Authors: Ketharnathan Sarada , Labudina Anastasia , Horsfield Julia A. 
Published: October 2020

AbstractCohesin is a multiprotein complex made up of core subunits Smc1, Smc3 and Rad21, and either Stag1 or Stag2. Normal haematopoietic development relies on crucial functions of cohesin in cell division and regulation of gene expression via three-dimensional chromatin organisation. Cohesin subunit STAG2 is frequently mutated in myeloid malignancies, but the individual contributions of Stag variants to haematopoiesis or malignancy are not fully understood. Zebrafish have four Stag paralogues (Stag1a, Stag1b, Stag2a and Stag2b), allowing detailed genetic dissection of the contribution of Stag1-cohesin and Stag2-cohesin to development. Here we characterize for the first time the expression patterns and functions of zebrafishstaggenes during embryogenesis. Using loss-of-function CRISPR-Cas9 zebrafish mutants, we show thatstag1aandstag2bcontribute to primitive embryonic haematopoiesis. Bothstag1aandstag2bmutants present with erythropenia by 24 hours post-fertilisation. Homozygous loss of either paralog alters the number of haematopoietic/vascular progenitors in the lateral plate mesoderm. The lateral plate mesoderm zone ofscl-positive cells is expanded instag1amutants with concomitant loss of kidney progenitors, and the number ofspi1-positive cells are increased, consistent with skewing toward primitive myelopoiesis. In contrast,stag2bmutants have reduced haematopoietic/vascular mesoderm and downregulation of primitive erythropoiesis. Our results suggest that Stag1 and Stag2 proteins cooperate to balance the production of primitive haematopoietic/vascular progenitors from mesoderm.
Phospholipid flippases and Sfk1 are essential for the retention of ergosterol in the plasma membrane
Authors: Kishimoto Takuma , Mioka Tetsuo , Itoh Eriko , Williams David E. , Andersen Raymond J. , Tanaka Kazuma 
Published: October 2020

AbstractSterols are important lipid components of the plasma membrane (PM) in eukaryotic cells, but it is unknown how the PM retains sterols at a high concentration. Phospholipids are asymmetrically distributed in the PM, and phospholipid flippases play an important role in generating this phospholipid asymmetry. Here, we provide evidence that phospholipid flippases are essential for retaining ergosterol in the PM of yeast. A mutant in three flippases, Dnf1-Lem3, Dnf2-Lem3, and Dnf3-Crf1, and a membrane protein, Sfk1, showed a severe growth defect. We recently identified Sfk1 as a PM protein involved in phospholipid asymmetry. The PM of this mutant showed high permeability and low density, and many nutrient transporters failed to localize to the PM. Staining with the sterol probe filipin and the expression of a sterol biosensor revealed that ergosterol was not retained in the PM. Instead, ergosterol accumulated in an esterified form in lipid droplets. We propose that ergosterol is retained in the PM by the asymmetrical distribution of phospholipids and the action of Sfk1. Once phospholipid asymmetry is severely disrupted, sterols might be exposed on the cytoplasmic leaflet of the PM and actively transported to the endoplasmic reticulum by sterol transfer proteins.
Large, stable spikes exhibit differential broadening in excitatory and inhibitory neocortical boutons
Authors: Ritzau-Jost Andreas , Tsintsadze Timur , Krueger Martin , Ader Jonas , Bechmann Ingo , Eilers Jens , Barbour Boris , Smith Stephen M. , Hallermann Stefan 
Published: October 2020

SUMMARYPresynaptic action potential spikes control neurotransmitter release and thus interneuronal communication. However, the properties and the dynamics of presynaptic spikes in the neocortex remain enigmatic because boutons in the neocortex are small and direct patch-clamp recordings have not been performed. Here we report direct recordings from boutons of neocortical pyramidal neurons and interneurons. Our data reveal rapid and large presynaptic action potentials in layer 5 neurons and fast-spiking interneurons reliably propagating into axon collaterals. For in-depth analyses we validate boutons of mature cultured neurons as models for excitatory neocortical boutons, demonstrating that the presynaptic spike amplitude was unaffected by potassium channels, homeostatic long-term plasticity, and high-frequency firing. In contrast to the stable amplitude, presynaptic spikes profoundly broadened for example during high-frequency firing in layer 5 pyramidal neurons but not in fast-spiking interneurons. Thus, our data demonstrate large presynaptic spikes and fundamental differences between excitatory and inhibitory boutons in the neocortex.
Dendritic spines are lost in clusters in Alzheimer’s disease
Authors: Mijalkov Mite , Volpe Giovanni , Fernaud-Espinosa Isabel , DeFelipe Javier , Pereira Joana B. , Merino-Serrais Paula 
Published: October 2020

ABSTRACTAlzheimer’s disease (AD) is a progressive neurodegenerative disorder characterized by a deterioration of neuronal connectivity. The pathological accumulation of tau in neurons is one of the hallmarks of AD and has been connected to the loss of dendritic spines of pyramidal cells, which are the major targets of cortical excitatory synapses and key elements in memory storage. However, the detailed mechanisms underlying the loss of dendritic spines in individuals with AD are still unclear. Here, we used graph-theory approaches to compare the distribution of dendritic spines from neurons with and without tau pathology of AD individuals. We found that the presence of tau pathology determines the loss of dendritic spines in clusters, ruling out alternative models where spine loss occurs at random locations. Since memory storage has been associated with synaptic clusters, the present results provide a new insight into the mechanisms by which tau drives synaptic damage in AD, paving the way to memory deficits through alterations of spine organization.
eEF1A2 controls local translation and actin dynamics in structural synaptic plasticity
Authors: Mendoza Mònica B. , Gutierrez Sara , Ortiz Raúl , Moreno David F. , Dermit Maria , Dodel Martin , Rebollo Elena , Bosch Miquel , Mardakheh Faraz K. , Gallego Carme 
Published: October 2020

AbstractSynaptic plasticity involves structural modifications in dendritic spines. Increasing evidence suggests that structural plasticity is modulated by local protein synthesis and actin remodeling in a synapsis-specific manner. However, the precise molecular mechanisms connecting synaptic stimulation to these processes in dendritic spines are still unclear. In the present study, we demonstrate that the configuration of phosphorylation sites in eEF1A2, an essential translation elongation factor in neurons, is a key modulator of structural plasticity in dendritic spines. A mutant that cannot be phosphorylated stimulates translation but reduces actin dynamics and spine density. By contrast, the phosphomimetic variant loosens its association with F-actin and becomes inactive as a translation elongation factor. Metabotropic glutamate receptor signaling triggers a transient dissociation of eEF1A2 from its GEF protein in dendritic spines, in a phospho-dependent manner. We propose that eEF1A2 establishes a crosstalk mechanism that coordinates local translation and actin dynamics during spine remodeling.
Self-regulation failure as a moderator of the pops–work outcomes relationships
Authors: Palmer Joshua C. , Hochwarter Wayne A. , Ma Shuang (Sara) , Ferris Gerald R. , Kiewitz Christian 
Published: October 2020

PurposeDrawing upon cognitive control theory, we examine the effects of self-regulation failure (SRF) on the relationships between perceptions of organizational politics (POPs) and tension, exhaustion, satisfaction, work effort, perceived resource availability and performance/contribution.Design/methodology/approachWe test hypotheses across three unique studies (Study 1: 310 employees from various occupations; Study 2: 124 administrative/support employees; Study 3: 271 Chinese hotel managers) using hierarchical moderated regression analyses.FindingsAcross studies, results suggest that POPs had a minimal impact on work attitudes, behaviors and health-related outcomes when SRF was low. However, employees experiencing high SRF reported adverse consequences in high POPS settings.Research limitations/implicationsThese studies relied on self-report data. However, we implemented design features to mitigate potential concerns and analytic techniques to determine method effects. This paper contributed to the POPs literature by explaining how SRF and POPs interact to impact meaningful work outcomes.Practical implicationsLeaders should receive training to help them identify and address indicators of SRF. Leaders can also implement intervention programs to help calm employees who experience SRF.Social implicationsLeaders should receive training to help them identify and address indicators of SRF. Leaders can also implement programs to help assist employees who demonstrate adverse effects from SRF.Originality/valueThis paper integrates the research on SRF and politics to examine the collective impact these variables have on workers. Our three-study package also addresses the call for more studies to examine how politics operate across cultures.
An experimental study on characterizing damage and fracture of a rock-like material based on three-dimensional magnetic field imaging
Authors: Yue Wenping , Yang Mingyang 
Published: October 2020

PurposeThe results showed that the use of a magnetic marker could relatively accurately reflect the fracture pattern inside the rock-like material (RLM).Design/methodology/approachThis study investigated the internal structure and fracture pattern of a fractured RLM. Magnetized iron oxide powder, which was used as a magnetic marker, was mixed with water and glue to form a magnetic slurry, which was subsequently injected into a fractured RLM. After the magnetic slurry completely filled the cracks inside the RLM and became cemented, the distribution and magnitude of the magnetic field inside the RLM were determined using a three-dimensional (3D) magnetic field imaging system.FindingsA model for determining the magnetic field strength was developed using MATLAB.Originality/valueThis model of 3D magnetic will further be used as a finite element tool to simulate and image cracks inside the rock.
Forecasting cocoa production of six major producers through ARIMA and grey models
Authors: Quartey-Papafio Tawiah Kwatekwei , Javed Saad Ahmed , Liu Sifeng 
Published: October 2020

PurposeIn the current study, two grey prediction models, Even GM (1, 1) and Non-homogeneous discrete grey model (NDGM), and ARIMA models are deployed to forecast cocoa bean production of the six major cocoa-producing countries. Furthermore, relying on Relative Growth Rate (RGR) and Doubling Time (Dt), production growth is analyzed.Design/methodology/approachThe secondary data were extracted from the United Nations Food and Agricultural Organization (FAO) database. Grey forecasting models are applied using the data covering 2008 to 2017 as their performance on the small sample size is well-recognized. The models' performance was estimated through MAPE, MAE and RMSE.FindingsResults show the two grey models fell below 10% of MAPE confirming their high accuracy and forecasting performance against that of the ARIMA. Therefore, the suitability of grey models for the cocoa production forecast is established. Findings also revealed that cocoa production in Côte d'Ivoire, Cameroon, Ghana and Brazil is likely to experience a rise with a growth rate of 2.52, 2.49, 2.45 and 2.72% by 2030, respectively. However, Nigeria and Indonesia are likely to experience a decrease with a growth rate of 2.25 and 2.21%, respectively.Practical implicationsFor a sustainable cocoa industry, stakeholders should investigate the decline in production despite the implementation of advanced agricultural mechanization in cocoa farming, which goes further to put food security at risk.Originality/valueThe study presents a pioneering attempt of using grey forecasting models to predict cocoa production.
Sustainable utilization of recycled aggregates: robust construction and demolition waste reduction strategies
Authors: De Luca Angelo , Chen Linda , Gharehbaghi Koorosh 
Published: October 2020

PurposeDue to the high demand of concrete, significant volume of natural resources is required, including virgin aggregates. Many studies have shown that the production of concrete has one of the highest CO2 levels. Although efforts are in place to recycle, enormous effects on landfill and the wider environment remain. Research has suggested the importance of reusing construction and demolition waste such as aggregate for use in recycled concrete. However, robust construction and demolition waste reduction strategies are required. There have been numerous researches on the use of recycled concrete and its management in the construction industry. This paper further consolidates this position.Design/methodology/approachThis paper exhibits the barriers and benefits of using recycled aggregates for construction industry. This is achieved via reviewing the current construction and demolition waste reduction strategies used mainly in three countries: the UK, Australia and Japan. These countries were selected since they seemingly have similar construction industry and environment. Subsequently, evolving barriers and benefits of using recycled aggregates for construction industry are also reviewed and discussed. And to support such focus, robust construction and demolition waste reduction strategies will be advocated.FindingsThe findings are summarized as follows. The recycling construction and demolition waste could have a positive net benefit compared to the procurement and production of virgin aggregate materials with the same properties. This is not only financially beneficial but also environmentally viable, as fewer resources would be required to produce the same aggregate material. There are effective ways to achieve a high recycle rate target, as demonstrated by Japan. The implementation of a similar recycling process could be implemented globally to achieve a more effective recycle rate through the help of governments at all levels. By creating awareness about the financial and environmental benefits of using recycled aggregate products, large recycling companies can be also enticed to follow suit.Practical implicationsThe findings from this paper can ultimately support the construction industry to further consolidate and advocate the use of recycled aggregates.Originality/valueTo achieve the research aim, this paper reviews some of the main sustainability factors of recycled aggregates (including coarse and fine aggregates) and provides comparison to virgin aggregates.
Links between well-being and communication with friends and family in one’s country of origin amongst migrants in Australia
Authors: du Plooy Daniel Rupert , Lyons Anthony , Kashima Emiko S. 
Published: October 2020

Purpose
This paper aims to examine the relationship between migrants’ psychological well-being and the extent to which they keep in touch with people in their country of origin.

Design/methodology/approach
An online survey completed by 1,328 Australian migrants from 4 cultural groups (Anglo, Southern Asian, Confucian Asian and other European) assessed 2 facets of well-being, namely, flourishing and psychological distress and the use of 3 modes of online communication, namely, social media, messaging services and phone/video services.

Findings
Overall, keeping in touch with family and friends in their country of origin was associated with more flourishing and less distress amongst migrants. Nonetheless, the preferred modes of communication and how those usages relate with well-being varied considerably across cultural groups. In the Anglo group, communicating through messaging and phone/video services was associated with lower distress and communicating in all modes was associated with higher flourishing. Furthermore, the latter link was accounted for by having a meaningful conversation.

Originality/value
These findings suggest that the psychological well-being of migrant populations may be supported by an understanding of the distinct roles played by specific communication modes that are used to stay in touch with family and friends back home.
Pandemic and teacher retention: empirical evidence from expat teachers in Southeast Asia during COVID-19
Authors: Hoang Anh-Duc 
Published: October 2020

PurposeThis research aims to explore the influence of expat teachers' attitude about local policies, and their subjective norms of social engagement during COVID-19 over their intention to leave the current country, due to COVID-19.Design/methodology/approachThis study uses analysis of variance (ANOVA) and structural equation model (SEM) to examine the perception of crisis and the intention to leave among 307 expat teachers in Southeast Asia during COVID-19 and highlights the importance of policy responses and social engagement toward the minimum teacher turnover rate.FindingsThe study reveals that, the higher perceived policy responses and community engagement the teachers acknowledge, the lower chance they will move to another country. Also, this paper presents the differences in expat teachers' perceptions and intentions among demographic factors such as teaching qualification, their current country of teaching, experience at the current country, income before, during and expected income after COVID-19.Originality/valueThe paper justifies a conceptual framework which provides a hypothetical explanation about the influence of perceived policy responses and community engagement over expat teachers' intention to leave.
Public acceptability of containment measures during the COVID-19 pandemic in Italy: how institutional confidence and specific political support matter
Authors: Guglielmi Simona , Dotti Sani Giulia M. , Molteni Francesco , Biolcati Ferruccio , Chiesi Antonio M. , Ladini Riccardo , Maraffi Marco , Pedrazzani Andrea , Vezzoni Cristiano 
Published: October 2020

PurposeThis article contributes to a better theoretical and empiric understanding of mixed results in the literature investigating the relationship between institutional confidence and adherence to recommended measures during a pandemic.Design/methodology/approachThe article relies on structural equation models (SEMs) based on data from ResPOnsE COVID-19, a rolling cross-section (RCS) survey carried out in Italy from April to June 2020.FindingsThe authors’ findings show the existence of multiple pathways of confidence at the national and local level. Confidence in the institutions is positively associated with support for the performance of the Prime Minister and that of the regional institutions in the North West, which in turn, raises the likelihood of following the restrictive measures. However, in the same regions, a good appraisal of the regional system's performance also had a direct positive effect on the perception of being safe from the virus, decreasing adherence to the restrictive measures. Finally, the direct effect of confidence in the institutions on compliance is negative.Social implicationsThe result enlightens the crucial role both of national and local institutions in promoting or inhibiting adherence to restrictive measures during a pandemic and suggests that “one size fits all” measures for increasing overall institutional confidence might not be sufficient to reach the desired goal of achieving compliance in pandemic times.Originality/valueThe authors theorize and test three cognitive mechanisms – (1) the “cascade of confidence”; (2) the “paradox of support” and (3) the “paradox of confidence” – to account for both the positive and negative links between measures of political support and public acceptability of COVID-19 containment measures.