bluuebunny/crossref_metadata_2025_split huggingface dataset:
Dissecting 16p11.2 hemi-deletion to study sex-specific striatal phenotypes of neurodevelopmental disorders
Authors: Kim Jaekyoon , Vanrobaeys Yann , Peterson Zeru , Kelvington Benjamin , Gaine Marie E. , Nickl-Jockschat Thomas , Abel Ted 
Published: February 2023

ABSTRACTNeurodevelopmental disorders (NDDs) are polygenic in nature and copy number variants (CNVs) are ideal candidates to study the nature of this polygenic risk. The disruption of striatal circuits is considered a central mechanism in NDDs. The 16p11.2 hemi-deletion (16p11.2 del) is one of the most common CNVs associated with NDD, and 16p11.2 del/+ mice show sex-specific striatum-related behavioral phenotypes. However, the critical genes among the 27 genes in the 16p11.2 region that underlie these phenotypes remain unknown. Previously, we applied a novel strategy to identify candidate genes associated with the sex-specific phenotypes of 16p11.2 del/+ mice and identified 3 genes of particular importance within the deleted region: thousand and one amino acid protein kinase 2 (Taok2), seizure-related 6 homolog-like 2 (Sez6l2), and major vault protein (Mvp). Using the CRISPR/Cas9 technique, we generated 3 gene hemi-deletion (3g del/+) mice carrying null mutations inTaok2, Sez6l2, andMvp. We assessed striatum-dependent phenotypes of these 3g del/+ mice in behavioral, molecular, and imaging studies. Hemi-deletion ofTaok2, Sez6l2, andMvpinduces sex-specific behavioral alterations in striatum-dependent behavioral tasks, specifically male-specific hyperactivity and impaired motivation for reward seeking, resembling behavioral phenotypes of 16p11.2 del/+ mice. Moreover, RNAseq analysis revealed that 3g del/+ mice exhibit gene expression changes in the striatum similar to 16p11.2 del/+ mice, but only in males. Pathway analysis identified ribosomal dysfunction and translation dysregulation as molecular mechanisms underlying male-specific, striatum-dependent behavioral alterations. Together, the mutation of 3 genes within the 16p11.2 region phenocopies striatal sex-specific phenotypes of 16p11.2 del/+ mice, unlike single gene mutation studies. These results support the importance of a polygenic approach to study NDDs and our novel strategy to identify genes of interest using gene expression patterns in brain regions, such as the striatum, which are impacted in these disorders.
The role of the epipeptide EpeX in defining competitive fitness in intra-species mixed isolate colony biofilms ofBacillus subtilis
Authors: Kalamara Margarita , Abbott James , Sukhodub Tetyana , MacPhee Cait , Stanley-Wall Nicola R. 
Published: February 2023

AbstractBacteria engage in competitive interactions with neighbours that can either be of the same or different species. Multiple mechanisms are deployed to ensure the desired outcome and one tactic commonly implemented is the production of specialised metabolites. The Gram-positive bacteriumBacillus subtilisuses specialised metabolites as part of its intraspecies competition determinants to differentiate between kin and non-kin isolates. It is, however, unknown if the collection of specialised metabolites defines competitive fitness when the two isolates start as a close, interwoven community that grows into a densely packed colony biofilm. Moreover, the identity of the most effective specialised metabolites has not been revealed. Here, we determine the competition outcomes that manifest when 21 environmental isolates ofB. subtilisare individually co-incubated with the model isolate NCIB 3610 in a colony biofilm. We correlated these data with the suite of specialised metabolite biosynthesis clusters encoded by each isolate. We found that theepeXEPABgene cluster correlated with a strong competitive phenotype. This cluster is responsible for producing the epipeptide EpeX. We demonstrated that EpeX is a competition determinant ofB. subtilisin an otherwise isogenic context. When we competed the NCIB 3610 EpeX deficient strain against our suite of environmental isolates we found that the impact of EpeX in competition is isolate-specific, as only one of the 21 isolates showed increased survival when EpeX was lacking. Taken together, we have shown that EpeX is a competition determinant used byB. subtilisthat impacts intra-species interactions in an isolate-specific manner.
A Single-Cell RNA-Seq Analysis Unravels the Heterogeniety of Primary Cultured Human Corneal Endothelial Cells
Authors: Català Pere , Groen Nathalie , LaPointe Vanessa L.S. , Dickman Mor M. 
Published: February 2023

ABSTRACTThe primary culture of donor-derived human corneal endothelial cells (CECs) is a promising cell therapy. It confers the potential to treat multiple patients from a single donor, alleviating the global donor shortage. Nevertheless, this approach has limitations preventing its adoption, particularly culture protocols allow limited expansion of CECs and there is a lack of clear parameters to identify therapy-grade CECs. To address this limitation, a better understanding of the molecular changes arising from the primary culture of CECs is required. Using single- cell RNA sequencing on primary cultured CECs, we identify their variable transcriptomic fingerprint at the single cell level, provide a pseudo temporal reconstruction of the changes arising from primary culture, and suggest markers to assess the quality of primary CEC cultures. This research depicts a deep transcriptomic understanding of the cellular heterogeneity arising from the primary expansion of CECs and sets the basis for further improvement of culture protocols and therapies.
The Burden of Reliability: How Measurement Noise Limits Brain-Behaviour Predictions
Authors: Gell Martin , Eickhoff Simon B. , Omidvarnia Amir , Küppers Vincent , Patil Kaustubh R. , Satterthwaite Theodore D. , Müller Veronika I. , Langner Robert 
Published: February 2023

AbstractMajor efforts in human neuroimaging strive to understand individual differences and find biomarkers for clinical applications by predicting behavioural phenotypes from brain imaging data. An essential prerequisite for identifying generalizable and replicable brain-behaviour prediction models is sufficient measurement reliability. However, the selection of prediction targets is predominantly guided by scientific interest or data availability rather than reliability considerations. Here we demonstrate the impact of low phenotypic reliability on out-of-sample prediction performance. Using simulated and empirical data from the Human Connectome Projects, we found that reliability levels common across many phenotypes can markedly limit the ability to link brain and behaviour. Next, using 5000 subjects from the UK Biobank, we show that only highly reliable data can fully benefit from increasing sample sizes from hundreds to thousands of participants. Overall, our findings highlight the importance of measurement reliability for identifying brain–behaviour associations from individual differences.
Smooth pursuit eye movements contribute to anticipatory force control during mechanical stopping of moving objects
Authors: Sinha Oindrila , Madarshahian Shirin , Gomez-Granados Ana , Paine Morgan L , Kurtzer Isaac , Singh Tarkeshwar 
Published: February 2023

AbstractWhen stopping a closing door or catching an object, humans process the motion of inertial objects and apply reactive limb force over short period to interact with them. One way in which the visual system processes motion is through extraretinal signals associated with smooth pursuit eye movements (SPEM). We conducted three experiments to investigate how SPEM contribute to anticipatory and reactive hand force modulation when interacting with a virtual object moving in the horizontal plane. We hypothesized that SPEM signals are critical for timing motor responses, anticipatory control of hand force, and task performance. Participants held a robotic manipulandum and attempted to stop an approaching simulated object by applying a force impulse (area under force-time curve) that matched the object’s virtual momentum upon contact. We manipulated the object’s momentum by varying either its virtual mass or its speed under free gaze or constrained gaze conditions. We examined gaze variables, timing of hand motor responses, anticipatory force control, and overall task performance. Our results show that when SPEM were constrained, anticipatory modulation of hand force prior to contact decreased. However, constraining SPEM did not seem to affect the timing of the motor response or the task performance. Together, these results suggest that SPEM may be important for anticipatory control of hand force prior to contact and may also play a critical role in anticipatory stabilization of limb posture when humans interact with moving objects.New and NoteworthyWe show for the first time that smooth pursuit eye movements (SPEM) play a role in modulation of anticipatory control of hand force to stabilize posture against contact forces. SPEM are critical for tracking moving objects, facilitate processing motion of moving objects, and are impacted during aging and in many neurological disorders, such as Alzheimer’s disease and Multiple Sclerosis. These results provide a novel basis to probe how changes in SPEM could contribute to deficient limb motor control in older adults and patients with neurological disorders.
Yersiniabactin is a quorum sensing autoinducer and siderophore in uropathogenicEscherichia coli
Authors: Heffernan James R. , Katumba George L. , McCoy William H. , Henderson Jeffrey P. 
Published: February 2023

ABSTRACTSiderophores are secreted ferric ion chelators used to obtain iron in nutrient-limited environmental niches, including human hosts. While allE. coliencode the enterobactin (Ent) siderophore system, isolates from patients with urinary tract infections additionally encode the genetically distinct yersiniabactin (Ybt) siderophore system. To determine whether the Ent and Ybt systems are functionally redundant for iron uptake, we compared growth of different isogenic siderophore biosynthesis mutants in the presence of transferrin, a human iron-binding protein. We observed that the Ybt system does not compensate for loss of the Ent system during siderophore-dependent, low density growth. Using transcriptional and product analysis, we found that this non-redundancy is attributable to a density-dependent transcriptional stimulation cycle in which Ybt assume an additional autoinducer function. These results distinguish the Ybt system as a combined quorum-sensing and siderophore system. These functions may reflect Ybt as a public good within bacterial communities or as an adaptation to confined, subcellular compartments in infected hosts. The efficiency of this arrangement may contribute to the extraintestinal pathogenic potential ofE. coliand relatedEnterobacterales.IMPORTANCEUrinary tract infections (UTIs) are one of the most common human bacterial infections encountered by physicians. Adaptations that increase the pathogenic potential of commensal microbes such asE.coliare of great interest. One potential adaptation observed in clinical isolates is accumulation of multiple siderophore systems, which scavenge iron for nutritional use. While iron uptake is important for bacterial growth, the increased metabolic costs of siderophore production could diminish bacterial fitness during infections. In a siderophore-dependent growth conditions, we show that the virulence-associated yersiniabactin siderophore system in uropathogenicE. coliis not redundant with the ubiquitousE. colienterobactin system. This arises not from differences in iron scavenging activity but because yersiniabactin is preferentially expressed during bacterial crowding, leaving bacteria dependent upon enterobactin for growth at low cell density. Notably, this regulatory mode arises because yersiniabactin stimulates its own expression, acting as an autoinducer in a previously unappreciated quorum-sensing system. This unexpected result connects quorum-sensing with pathogenic potential inE. coliand relatedEnterobacterales.
PopTradeOff: a database for exploring population-specific trade-offs between adaptive evolution, disease susceptibility, and drug responsiveness
Authors: Tang Ji , Zhang Huanlin , Zhang Hai , Zhu Hao 
Published: February 2023

AbstractThe influence of adaptive evolution on disease susceptibility has drawn attention, but the extent of the influence, whether favored mutations also influence drug responses, and whether the associations between the three are population specific remain little known. Using a deep learning network to integrate seven statistical tests for detecting selection signals, we predicted favored mutations in the genomes of 17 human populations. We integrate these favored mutations with GWAS sites and drug response-related variants into the database PopTradeOff. The database also contains genome annotation information on the SNP, sequence, gene, and pathway levels. The preliminary data analyses suggest that substantial associations exist between adaptive evolution, disease susceptibility, and drug responses. The database may be valuable for disease studies, drug development, and personalized medicine.
Power, dominance and control: implementing a new business intelligence system
Authors: Hussain Zahid , Jabbar Abdul , Kong Kai 
Published: February 2023

PurposeThe purpose of this paper is to expose the playout of power dynamics when a new business intelligence (BI) system is implemented in a central pharmacy department in a National Health Service (NHS) hospital. The authors aim to explore the assumptions, experiences and actions of organisational stakeholders and ascertain how different professional groups obtain influence, power and control during this process.Design/methodology/approachIn this research the authors employ structuration theory (ST), to establish how and where domination is achieved. To achieve this, the authors investigate the production and reproduction of structure as part of a longitudinal assessment using interviews and questionnaires.FindingsConstant renewal and evolution are crucial in the implementation of a BI system. During the process of implementation and change many stakeholders resent the change. Disempowering these users leads to new power structures led by BI analysts.Practical implicationsThe findings from this paper can help strengthen implications of BI systems implementation and better understand the impact these systems have on wider stakeholders. With coherent communication and an engaged attitude new BI systems can be implemented without alienating the key user stakeholders.Originality/valueThis paper differs from other papers by advocating that new systems and processes alter individual power structures in organisations, disrupting internal dynamics and introducing new aspects of control and dominance.
Confirmatory analysis on factors influencing the material management effectiveness in construction projects
Authors: Pham Van Bao , Peansupap Vachara 
Published: February 2023

PurposeConstruction material management is an important process in supporting construction operations that affect project performance. Previous studies attempt to identify factors influencing material management in different stages such as procurement, transportation and utilization. However, they lack a model to explain the relationship between influential factors and the effectiveness of material management. Therefore, this study aims to validate the variables and key factors influencing the effectiveness of material management processes.Design/methodology/approachA total of 42 variables were reviewed from literature in different stages of material management process. Survey questionnaires were used to collect data about participants' perceptions on these variables. The respondents were 200 project engineers and project managers from construction sites and offices in Vietnam. Then factor analysis techniques were undertaken to validate the structure of factor groups. Two methods of exploratory factor analysis (EFA) and confirmatory factor analysis (CFA) were, respectively, performed to evaluate and verify the model's fit.FindingsFactors influencing the effectiveness of material management were grouped into nine main factors, which are procurement issues, site conditions, planning and handling on site, industrial environments, contractual issues, quality control, suppliers and manufacturers' issues, transportation in and out site and security on site.Practical implicationsThe paper has several implications for theory and methodology related to material management. It features influential factors in association with the material management effectiveness. Therefore, senior managers can more fully understand the errors in their works and propose timely solutions to limit the unwanted risks.Originality/valueThis research contributes on theoretical development on factors influencing effectiveness of material management processes. The key findings on influential factors can be applied to measure the effectiveness of material management processes.
Boosting stakeholders' intention to participate in socially responsible collective action in megaprojects: perspectives of mega water transfer projects in China
Authors: Zhai Wujuan , Ling Florence Yean Yng , Ding Jiyong , Wang Zhuofu 
Published: February 2023

PurposeMegaprojects have large impact on the environment and stakeholders should take collective action to ensure that these projects are developed in a socially responsible manner. Hitherto, it is not known whether group and subjective norms and social identity could compel stakeholders to take socially responsible collective actions in megaprojects. The aim of this study is to design and test a model to boost stakeholders' intention to take socially responsible collective action in the context of mega water transfer projects in China.Design/methodology/approachA quasi-experimental causal research design was adopted to establish cause–effect relationships among the dependent variable (we-intention) and independent variables (subjective norms, group norms, social identity and desire). This study adopts the belief–desire–intention model and social influence theory to empirically investigate how to boost the stakeholders' intention to participate in socially responsible collective action. An online questionnaire survey was conducted and data was collected from 365 respondents who were involved in mega water transfer projects in China. The partial least squares structural equation modeling technique was employed to analyze the data.FindingsThe results from partial least squares analyses indicate that the presence of subjective norms, group norms and social identity (collectively known as social influence process) could increase stakeholders' intention to take socially responsible collective action. In addition, the desire to be socially responsible also boosts stakeholders' intention to take collective action. Desire partially mediates the relationship between social influence process and intention to take socially responsible collective action.Originality/valueThis study adds to existing knowledge by discovering social influence process as an antecedent to taking socially responsible collective action in megaprojects. Strong group norms and subjective norms could propel stakeholders to be more socially responsible. The study also adds to knowledge by discovering that stakeholders' desire to fulfill social responsibility also leads them to take concrete actions. Implications and recommendations are provided on how to manipulate different types of social influence processes to facilitate stakeholders to adopt socially responsible collective action in the process of managing megaprojects.
Experimental and LBM analysis of medium-Reynolds number fluid flow around NACA0012 airfoil
Authors: Rak Andro , Grbčić Luka , Sikirica Ante , Kranjčević Lado 
Published: February 2023

PurposeThe purpose of this paper is the examination of fluid flow around NACA0012 airfoil, with the aim of the numerical validation between the experimental results in the wind tunnel and the Lattice Boltzmann method (LBM) analysis, for the medium Reynolds number (Re= 191,000). The LBM–large Eddy simulation (LES) method described in this paper opens up opportunities for faster computational fluid dynamics (CFD) analysis, because of the LBM scalability on high performance computing architectures, more specifically general purpose graphics processing units (GPGPUs), pertaining at the same time the high resolution LES approach.Design/methodology/approachProcess starts with data collection in open-circuit wind tunnel experiment. Furthermore, the pressure coefficient, as a comparative variable, has been used with varying angle of attack (2°, 4°, 6° and 8°) for both experiment and LBM analysis. To numerically reproduce the experimental results, the LBM coupled with the LES turbulence model, the generalized wall function (GWF) and the cumulant collision operator with D3Q27 velocity set has been used. Also, a mesh independence study has been provided to ensure result congruence.FindingsThe proposed LBM methodology is capable of highly accurate predictions when compared with experimental data. Besides, the special significance of this work is the possibility of experimental and CFD comparison for the same domain dimensions.Originality/valueConsidering the quality of results, root-mean-square error (RMSE) shows good correlations both for airfoil’s upper and lower surface. More precisely, maximal RMSE for the upper surface is 0.105, whereas 0.089 for the lower surface, regarding all angles of attack.
Women entrepreneurial motivation and business performance: the role of learning motivation and female entrepreneurial competencies
Authors: Lingappa Anasuya K. , Rodrigues L.R. Lewlyn , Shetty Dasharathraj K. 
Published: February 2023

Purpose
The purpose of this paper is to present a conceptual model that explains how necessity and opportunity start-up motivation affects firm performance among women entrepreneurs (WEs) through the mediating influences of motivation to learn (MtL) and women entrepreneurial competencies (WEC).

Design/methodology/approach
Necessity (NEC) and Opportunity (OPP) motivation is used as the guiding theory to acknowledge the contraries of women entrepreneurial motivation. Female Entrepreneurial Competency (FEC) framework is used as a basis for WEC. Embedded in this reasoning, MtL and FECs are integrated into the conceptual model to understand the connection between start-up motivation and business performance among WEs in a developing economy.

Findings
To date, there is a limited understanding of how learning motivation and competencies together explain the business performance of WEs through the lens of their differences in start-up motivation. In this respect, this conceptual model advances scholarly insights by conceptualizing the relationship between NEC and OPP motivation, and business performance through the mediating influences of MtL and WECs.

Research limitations/implications
The proposed conceptual model does not consider any aspects other than entrepreneurial motivation, learning motivation and competencies related to business performance such as access to finance, sociocultural aspects and personality traits.

Practical implications
The proposed conceptual model can contribute to academics by adding to the body of knowledge on women entrepreneurship. It can also aid policymakers in understanding the critical link between differentials in start-up motivation and firm performance through the mediating influences of learning motivation and competencies, thus potentially providing a basis for formulating focused skilling strategies for WEs.

Originality/value
This paper proposes a unique conceptual framework that incorporates theories of learning motivation and FECs to examine the critical link between start-up motivation and business performance among WE.