bluuebunny/crossref_metadata_2025_split huggingface dataset:
Molecular phenotypes segregate missense mutations in SLC13A5 Epilepsy
Authors: Jaramillo-Martinez Valeria , Sennoune Souad R. , Tikhonova Elena B. , Karamyshev Andrey L. , Ganapathy Vadivel , Urbatsch Ina L. 
Published: May 2024

AbstractThe sodium-coupled citrate transporter (NaCT, SLC13A5) mediates citrate uptake across the plasma membrane via an inward Na+gradient. Mutations in SLC13A5 cause early infantile epileptic encephalopathy type-25 (EIEE25, SLC13A5 Epilepsy) due to impaired citrate uptake in neurons. Despite clinical identification of disease-causing mutations, underlying mechanisms and cures remain elusive. We mechanistically classify the molecular phenotypes of six mutations. C50R, T142M, and T227M exhibit impaired citrate transport despite normal expression at the cell surface. G219R, S427L, and L488P are hampered by low protein expression, ER retention, and reduced transport. Mutants’ mRNA levels resemble wildtype, suggesting post-translational defects. Class II mutations display immature core-glycosylation and shortened half-lives, indicating protein folding defects. These experiments provide a comprehensive understanding of the mutation’s defects in SLC13A5 Epilepsy at the biochemical and molecular level and shed light into the trafficking pathway(s) of NaCT. The two classes of mutations will require fundamentally different treatment approaches to either restore transport function, or enable correction of protein folding defects.SummaryLoss-of-function mutations in the SLC13A5 causes SLC13A5-Epilepsy, a devastating disease characterized by neonatal epilepsy. Currently no cure is available. We clarify the molecular-level defects to guide future developments for phenotype-specific treatment of disease-causing mutations.
Molecular Characterization and Antibiotic Resistance Profile ofEscherichia coliIsolated From Liver Abscess
Authors: Nasar Mohammad , Grazza Sarrar 
Published: May 2024

AbstractBackgroundBacterial liver abscess is the most common hepatic infection, which can lead to death.Escherichia coliis among the many species of bacteria that cause it. This study was conducted to isolateE. colifrom liver abscess and then to characterise the bacteria’s molecular makeup and antibiotic resistance profile.MethodsA total of 208 stool samples were collected from patients showing symptoms of liver abscess.E. coliwas isolated from these samples followed by identification by biochemical tests. Pure and biochemically positive colonies were confirmed by polymerase chain reaction. The disk diffusion method was used to ascertain the pattern of antibiotic resistance exhibited byE. coliisolates.ResultsThe PCR amplification efficiency was nearly 100% since all of the samples appeared at 284 molecular base pairs (bp), which is considered to be the optimal parameter assay. The antimicrobial susceptibility pattern showed that isolates were resistant to many drugs but 100% and 92% of the isolates were susceptible to imipenem and azithromycin, respectively. All isolates were resistant to ampicillin, vancomycin, and cefotaxime. This was followed by ceftazidime (72%), tetracycline (84%), trimethoprim (80%), streptomycin (96%), linezolid (92%), Teicoplanin (80%), nalidixic acid (84%), ciprofloxacin (92%), and chloramphenicol (72%).ConclusionMultiple drug resistantE. coliis one of the causes of liver abscesses in humans.
Antibodies targeting Crimean-Congo hemorrhagic fever virus GP38 limit vascular leak and viral spread
Authors: Pahmeier Felix , Monticelli Stephanie R. , Feng Xinyi , Hjorth Christy K. , Wang Albert , Kuehne Ana I. , Bakken Russell R. , Batchelor Thomas G. , Lee Saeyoung E. , Middlecamp Marissa , Stuart Lauren , Abelson Dafna M. , McLellan Jason S. , Biering Scott B. , Herbert Andrew S. , Chandran Kartik , Harris Eva 
Published: May 2024

AbstractCrimean-Congo hemorrhagic fever virus (CCHFV) is a priority pathogen transmitted by tick bites, with no vaccines or specific therapeutics approved to date. Severe disease manifestations include hemorrhage, endothelial dysfunction, and multiorgan failure. Infected cells secrete the viral glycoprotein GP38, whose extracellular function is presently unknown. GP38 is considered an important target for vaccine and therapeutic design as GP38-specific antibodies can protect against severe disease in animal models, albeit through a currently unknown mechanism of action. Here, we show that GP38 induces endothelial barrier dysfunctionin vitro, and that CCHFV infection, and GP38 alone, can trigger vascular leak in a mouse model. Protective antibodies that recognize specific antigenic sites on GP38, but not a protective neutralizing antibody binding the structural protein Gc, potently inhibit endothelial hyperpermeabilityin vitroand vascular leakin vivoduring CCHFV infection. This work uncovers a function of the secreted viral protein GP38 as a viral toxin in CCHFV pathogenesis and elucidates the mode of action of non-neutralizing GP38-specific antibodies.
Adhesion ofE. colibacteria is force-modulated due to fimbriae-mediated surface repulsion and multivalent binding irrespective of surface specificity
Authors: Lundgren Anders , van Oostrum Peter , Iturri Jagoba , Malkoch Michael , Toca-Herrara José Luis , Reimhult Erik 
Published: May 2024

AbstractEscherichia colibacteria that express type 1 fimbriae migrate along surfaces when pushed by a slow flow but stick more firmly when the flow increases. This and other examples of force-modulated biological binding are often described as due to lectin–glycan catch-bonds. Here we quantitatively track the 3D movements of fimbriatedE. coliflowing over surfaces nanopatterned with mannose or hydrophobic binding sites. We reveal that flow-modulated surface adhesion and motion are consequences of bacteria adhering via polydisperse, elastic fimbriae, irrespective of binding affinity and specificity. The fimbria-mediated surface repulsion and the flow forces on tethered bacteria establish an equilibrium bacteria-surface separation. The separation controls the number of potential tethers between the bacterium and the surface. Combined with the individual fimbria affinity, this determines the surface avidity and surface motion. This provides a broadly applicable mechanism by which bacteria acquire adaptive surface avidity, responding super-selectively to different flow environments, concentration, and affinity of available binding sites, essential to explaining how fimbriae govern tropism and surface colonization.
Tackling the primary healthcare workforce crisis: time to talk about health systems and governance. A comparative assessment of the European region
Authors: Kuhlmann E , Falkenbach M , Brinzac MG , Correia T , Panagioti M , Rechel B , Sagan A , Santric-Milicevic M , Ungureanu M-I , Wallenburg I , Burau V 
Published: May 2024

AbstractBackgroundPrimary healthcare has emerged as a powerful global concept, but little attention has been directed towards the pivotal role of the healthcare workforce and the diverse institutional setting in which they work. This study aims to bridge the gap between the primary healthcare policy and the ongoing healthcare workforce crisis debate by introducing a health system and governance approach to identify transformative capacities in health system contexts.MethodsA qualitative comparative methodology was employed, and a rapid assessment of the primary healthcare workforce was conducted across nine countries: Denmark, Germany, Kazakhstan, Netherlands, Portugal, Romania, Serbia, Switzerland, and the United Kingdom/ England.ResultsOur findings reveal both convergence and pronounced diversity across the healthcare systems, with none fully aligning with the ideal attributes of primary healthcare suggested by WHO. However, across all categories, Denmark, the Netherlands, and to a lesser extent Kazakhstan, depict closer alignment to this model than the other countries. Workforce composition and skill-mix vary strongly, while disparities persist in education and data availability, particularly within Social Health Insurance systems. Policy responses and interventions span governance, organisational, and professional realms, although with weaknesses in the implementation of policies and a systematic lack of data and evaluation. The WHO primary healthcare model only marginally informs policy decisions, with the exception being in Kazakhstan.ConclusionWe conclude that aligning primary healthcare and workforce considerations within the broader health system context may help move the debate forward and build governance capacities to improve resilience in both areas.
Spatiotemporal distribution of neural crest cells in the common wall lizardPodarcis muralis
Authors: Pranter Robin , Feiner Nathalie 
Published: May 2024

AbstractBackgroundNeural crest cells (NCCs) are migratory embryonic stem cells that give rise to a diverse set of cell types. Here we describe the dynamic distribution of NCCs in developing embryos of the common wall lizardPodarcis muralisinferred from ten markers. Our aim is to provide insights into the NCC development of lacertid lizards and to infer evolutionary modifications by comparisons to other tetrapods.ResultsNCC migration is ongoing at oviposition, following three streams in the head and multiple in the trunk. From 21ss, we observe expression patterns indicating the beginning of differentiation towards mesenchymal and neuronal fates. By 35ss, migration is restricted to caudal levels, and fully differentiated chromaffin cells are observed.ConclusionsWe find that some markers show patterns that differ from other tetrapods. For example, the antibody HNK-1 labels three NCC streams from the hindbrain while some comparable reptile studies describe four. However, the information emerging from all markers combined shows that the overall spatiotemporal distribution of NCCs in the common wall lizard is largely conserved with that of other tetrapods. Our study highlights the dynamic nature of seemingly canonical marker genes and provides the first description of spatiotemporal NCC dynamics in a lacertid lizard.
Application of RNA-sequencing based predictive model for endometrial WOI in patients with recurrent implantation failure: a prospective cohort study
Authors: He Aihua , Yang Tianli , Lu Sijia , Zou Yangyun , Wan Cheng , Zhao Jing , Liu Nenghui , Liu Donge , Li Yumei , Wang Yonggang , Xu Bin , Hao Jie , Xie Shi , Fu Jing , Li Hui , Wu Hong , Zhang Qiong , Li Yanping 
Published: May 2024

AbstractBackgroundAccurate prediction for endometrial window of implantation (WOI) would maximize the effectiveness of assisted reproductive technology. Previously, we have established a predictive model for endometrial WOI (rsERT) by three-time points sampling from the same patient at 48-hour intervals during one menstrual cycle. However, it is imperative to build a modified rsERT by single time point sampling in order to prevent multiple sampling and collateral harm.MethodsA two-phase study was conducted. In the first phase, patients with successful clinical pregnancy after personalized embryo transfer (pET) guided by three-time points rsERT were recruited. Endometrial tissues obtained from single time point were used for the modified rsERT establishment. In the second phase, recurrent implantation failure (RIF) patients were recruited and assigned to experimental group underwent pET guided by modified rsERT’ or control group underwent conventional ET. Pregnant outcomes were recorded and analyzed.ResultsThe modified rsERT was established using 91 eligible participants and could provide hour-based predictive result of endometrial WOI with an average accuracy of 94.51% with sensitivity and specificity being 92.73% and 96.27% using 10-fold CV. 176 RIF patients were recruited in the second phase (experimental group: n=88; control group: n=88). 40 of 88 (45.45%) patients showed WOI displacement, and 5.00% (2/40) of them were with advanced WOI, and the remaining 95.00% (38/40) with delayed WOI. The β-hCG positive rate, intrauterine pregnancy rate (IPR) and implantation rate (IR) of the experimental group were significantly improved (β-hCG positive rate: 67.05% vs. 39.77%, P=0.000; IPR: 61.36% vs. 31.82%, P=0.000; IR: 42.86% vs. 24.66%, P=0.001). While, pregnancy outcomes were not significantly different using different endometrial preparation protocols (β-hCG positive rate: 42.86% vs. 35.90%, P=0.508; IPR: 38.78% vs. 23.08%, P=0.116; IR: 30.12% vs. 17.46%, P=0.085).ConclusionsThe modified rsERT allowed WOI prediction using a single time point endometrial biopsy and pregnancy outcomes were significantly improved. This could provide an enhanced endometrial receptivity test as an alternative, requiring only a single time point sampling for RIF patients.FundingResearch grants from Hunan Provincial Natural Science Foundation General Program (2023JJ30823) and Postdoctoral Fellowship Program of CPSF (GZC20233157).
Marsupial single-cell transcriptomics provides an atlas of developmental heterochrony
Authors: Menchero Sergio , Barrington Christopher , Alanis-Lobato Gregorio , Varsally Wazeer , Niakan Kathy K. , Turner James M. A. 
Published: May 2024

SummarySingle-cell transcriptomics has revealed conserved and divergent programmes of organogenesis in mammals, but existing studies have focused on eutherians. Marsupials exhibit short gestation and complete development externally, necessitating accelerated differentiation of anterior features required for locomotion and feeding. As such, they represent a unique outgroup with which to understand temporal shifts in development, known as heterochrony. Here, we generate the first single-cell transcriptomic atlas of gastrulation and early organogenesis in a marsupial, the opossumMonodelphis domestica. We find that anterior prioritisation is achieved by earlier initiation and shorter duration of transcriptional programmes relative to eutherians. The result is uncoupling of transcriptional and morphological progression, revealing unforeseen diversity in the order of developmental sequences in mammals. We uncover novel tissues for which heterochrony has not previously been documented. Our findings indicate that accelerated activation of transcriptional programmes facilitates the rapid growth needed for survival of the marsupial neonate.
Reduction of spectroscopic overlap across the
Z=8
shell in neutron-rich nuclei
Authors: Redpath T. , Guèye P. , Baumann T. , Brown B. A. , Cunningham A. , DeYoung P. A. , Frank N. , Hoffman C. R. , Kuchera A. N. , Godoy B. Monteagudo , Persch C. , Revel A. , Rogers W. F. , Thoennessen M. , Tostevin J. A. , Votaw D. 
Published: May 2024

The recent discovery and spectroscopic measurements of O27 and O28 suggests the disappearance of the N=20 shell structure in these neutron-rich oxygen isotopes.
We measured one- and two-proton removal cross sections from F27 and Ne29, respectively, extracting spectroscopic factors and comparing them to shell model overlap functions coupled with eikonal reaction model calculations.
The invariant mass technique was used to reconstruct the two-body (O24+n) and three-body (O24+2n) decay energies from knockout reactions of F27 (106.2 MeV/u) and Ne29 (112.8 MeV/u) beams impinging on a Be9 target.
The one-proton removal from F27 strongly populated the ground state of O26 and the extracted cross section of 3.4−1.5+0.3 mb agrees with eikonal model calculations that are normalized by the shell model spectroscopic factors and account for the systematic reduction factor observed for single nucleon removal reactions within the models used. For the two-proton removal reaction from Ne29 an upper limit of 0.08 mb was extracted for populating states in O27 decaying though the ground state of O26.
The measured upper limit for the population of the ground state of O26 in the two-proton removal reaction from Ne29 indicates a significant difference in the underlying nuclear structure of F27 and Ne29.Published by the American Physical Society2024
What science says about entrepreneurs' well-being: a conceptual structure review
Authors: Sierra-Casanova Cristina , Lechuga Sancho María Paula , Ramos-Rodríguez Antonio Rafael 
Published: May 2024

PurposeThe aim of this study is to explore the evolution of research on entrepreneurs' well-being (EWB) over the past three decades. We examined 525 scientific articles published in academic journals.Design/methodology/approachThe methodology used included bibliometric indicators of activity based on terms and relationships for conceptual evolution through scientific maps, strategic diagrams and thematic trends.FindingsThe results revealed the most frequently used terms by researchers and how they have changed over time, as well as the trending topics and the most popular keywords. Co-word analysis provided a dynamic view of research evolution in this field, allowing the identification of the most relevant thematic areas and their evolution.Practical implicationsEntrepreneurial well-being extends beyond economic performance, influencing individuals, organizations and society, impacting sustainability, innovation, health and economic growth. This highlights the broader implications of well-being in entrepreneurial contexts. Additionally, proposed future research directions aim to enhance the scientific discipline, advancing understanding of entrepreneurial well-being.Originality/valueThis paper stands out for its original approach in addressing and synthesizing existing literature on entrepreneurs' well-being. It offers practical and applicable insights, contributing concrete recommendations to enhance entrepreneurs' well-being, bridging theory and action meaningfully.
The role of innovation and social media in explaining corporate social responsibility–business sustainability nexus in entrepreneurial SMEs
Authors: Çera Gentjan , Ndou Valentina 
Published: May 2024

PurposeThe purpose of this study is to investigate the influence of Corporate Social Responsibility (CSR) on the sustainability of Central European SMEs by emphasizing the role of innovation as a mediator and social media as a moderator.Design/methodology/approachA questionnaire is developed, and primary data is collected from four Central European countries. Partial Least Squares Structural Equation Modelling is used to analyse data from over 1,500 SMEs operating in Visegrad countries.FindingsOur findings reveal a significant and positive association between CSR and business sustainability. Furthermore, it is identified that innovation serves as a mediator in the CSR–business sustainability link in two of the examined countries. Additionally, the moderating effect of social media is observed in Hungary, indicating that the impact of CSR and innovation on business sustainability varies by country context.Research limitations/implicationsWhile offering valuable insights, the study's generalizability to other regions necessitates further exploration. Additionally, the research focuses on specific mediating and moderating factors, leaving room for the investigation of other potential influences.Practical implicationsThis study emphasises the need to integrate CSR practices and promoting innovation to improve business sustainability for SMEs in Central Europe. Recognising social media's moderating influence may help firms adjust their CSR strategies to reflect the preferences and behaviours of their target consumers.Social implicationsPromoting CSR in SMEs can encourage social well-being, including community development and environmental sustainability.Originality/valueThis research contributes fresh insights into the interplay of CSR, innovation and social media within Central European SMEs. It underscores the importance of considering regional nuances when analysing these dynamics.
The effect of lean manufacturing practices on employees’ well-being mediated by job characteristics
Authors: Bento Graziela dos Santos , Tontini Gérson 
Published: May 2024

Purpose
Based on the principles of positive psychology, this study aims to investigate the mediating role of job characteristics (task, knowledge, social and work context) in the connection between lean manufacturing (LM) practices and employee well-being.

Design/methodology/approach
Employee well-being, encompassing job satisfaction, organizational affective commitment and work involvement, is conceptualized as a second-order construct. Using a proposed model, an online survey was administered to 520 participants across 23 operational sectors categories of the Brazilian manufacturing industry. The data is processed using structural equation analysis.

Findings
The research shows that the relationship between LM practices and employee well-being is partially mediated through three out of the four work characteristics (task, knowledge and social). In addition, LM exerts a direct and significant influence on employee well-being.

Practical implications
This study contributes to practical insights by encouraging industrial managers to refine their managerial work design. It highlights the importance of appropriately dimensioning tasks, nurturing social skills to enhance interactions and task execution and optimizing physical facilities to counteract potential initial-stage work intensification during LM implementation.

Originality/value
Previous research about organizational behavior extensively examines happiness at work, focusing on constructs such as well-being, satisfaction, commitment, engagement and motivation, but there is a lack of studies assessing employee well-being in the lean context, particularly from a positive perspective.
The influence of collective emotions in the response to supply chain disruptions: a buyer–supplier empirical approach
Authors: Matas Jose , Llorens-Montes Francisco Javier , Perez Nieves 
Published: May 2024

PurposeThe objective of this study is to examine how emotions play a role in the firm’s reaction to disruptions in the supply chain. Drawing on the upper echelons theory, we evaluate whether managers’ perception of collective emotions (CEs) in the supply environment affects the execution of specific organisational responses (bridging and buffering) to disruptive events. Furthermore, we investigate to what extent companies' own capabilities, such as supply chain resilience, influence this relationship.Design/methodology/approachA web-based survey was distributed among managers involved in supply chain relationship management (e.g. supply chain or purchasing managers). LinkedIn was used to identify and contact adequate respondents, and 221 valid responses were collected. The proposed theoretical model was empirically tested using structural equation modelling based on partial least squares (PLS-SEM).FindingsResults suggest that emotions can shape a firm's response to supply chain disruptions. In fact, managers are more likely to pursue both bridging and buffering strategies as their perception of CEs increases. However, the intensity and underlying motivations for pursuing each strategy differ.Originality/valueWhen CEs are perceived by buyer managers, stronger supply chain resilience incentivises the choice of cooperative practices within existing suppliers, thereby reinforcing pre-existing links. We conclude that combining companies' inherent variables or capabilities with managerial cognition and perceptions can improve our understanding of decision-making processes and buyer–supplier relationships.