bluuebunny/crossref_metadata_2025_split huggingface dataset:
Improved diagnosis of rare disease patients through application of constrained coding region annotation and de novo status
Authors: Williams Hywel J , Odhams Chris , England Genomics 
Published: August 2022

AbstractIdentifying the pathogenic variant in a rare disease (RD) patient is the first step in ending their diagnostic odyssey. De novo (Dn) variants affecting protein-coding DNA are a well-established cause of Mendelian disorders in RD patients. Constrained coding regions (CCRs) are specific segments of coding DNA which are devoid of functional variants in healthy individuals. Furthermore, the most constrained regions, those in percentile bin >95 (CCR95), are significantly enriched for functional pathogenic variants and could therefore be useful for clinical variant prioritisation.We aimed to evaluate the diagnostic utility of incorporating Dn, CCR95 and Dn_CCR95 status into the variant prioritisation cascade for RD patients that have undergone genomic sequencing. Using data from the Genomics England 100,000 Genomes Project v12, we selected 3,090 trios that have undergone diagnostic evaluation and been analysed with an advanced Dn identification pipeline. For this analysis we have excluded all non-autosomal variants.Our analysis shows the diagnostic rate increased from 71% in the full cohort to 81% when evaluating just the CCR95 variants, 84% for Dn variants and 87% for Dn CCR95 variants. Of note, manual evaluation of the Dn CCR95 variants from the undiagnosed patients revealed a putative diagnosis in 69% of patients (27 of 39), with clinical follow up resulting in a diagnosis for a further 11 patients. This takes the overall diagnostic rate for Dn CCR95 variants 90% and suggests application of this metric can prioritise diagnostic variants in undiagnosed patients.We also identify a striking enrichment of signal in patients with a phenotype of neurology and neurodevelopmental disorders, whereby their diagnostic rate increases from 60% in the whole cohort to 71%, 73% and 74% in the Dn, CCR95 and Dn CCR95 categories respectively.In summary, we demonstrate the potential clinical utility of performing bespoke Dn analyses of RD patients and for incorporating CCR information into the filtering cascade to prioritise pathogenic variants. We believe such a strategy will aid the identification of pathogenic variants and decrease the time taken to make a diagnosis, thus increasing the overall diagnostic rate by allowing more samples to be analysed over the same time period.
Computational investigation of IP3 diffusion
Authors: Guevara Roberto Ornelas , Gil Diana , Voorsluijs Valérie , Dupont Geneviève 
Published: August 2022

AbstractInositol 1,4,5-trisphosphate (IP3) plays a key role in calcium signaling. After stimulation, it diffuses from the plasma membrane where it is produced to the endoplasmic reticulum where its receptors are localized. Based on in vitro measurements, IP3 was long thought to be a global messenger characterized by a diffusion coefficient of ~280 µm2s−1. However, in vivo observations revealed that this value does not match with the timing of localized Ca2+ increases induced by the confined release of a non-metabolizable IP3 analog. A theoretical analysis of these data concluded that in intact cells diffusion of IP3 is strongly hindered, leading to a 30- fold reduction of the diffusion coefficient. Here, we performed a new computational analysis of the same observations using a stochastic model of Ca2+ puffs. Our simulations concluded that the value of the effective IP3 diffusion coefficient is close to 100 µm2s−1. Such moderate reduction with respect to in vitro estimations quantitatively agrees with a buffering effect by non-fully bound inactive IP3 receptors. The model also reveals that IP3 diffusion is not much affected by the endoplasmic reticulum, which represents an obstacle to the free displacement of molecules, but can be significantly increased in cells displaying elongated, 1-dimensional like geometries.
Larger error negativity peak amplitudes for accuracy versus speed instructions may reflect more neuro-cognitive alignment, not more intense error processing
Authors: Mattes André , Porth Elisa , Niessen Eva , Kummer Kilian , Mück Markus , Stahl Jutta 
Published: August 2022

AbstractUnderstanding human error processing is a highly relevant interdisciplinary goal. More than 30 years of research in this field have established the error negativity (Ne) as a fundamental electrophysiological marker of various types of erroneous decisions (e.g. perceptual, economic) and related clinically relevant variations. A common finding is that the Ne is more pronounced when participants are instructed to focus on response accuracy rather than response speed, an observation that has been interpreted as reflecting more thorough error processing. We challenge this wide-spread interpretation by demonstrating that when controlling for the level of non-event-related noise in the participant-average waveform and for single-trial peak latency variability, the significant speed-accuracy difference in the participant-average waveform vanishes. This suggests that the previously reported Ne differences may be mostly attributable to a more precise alignment of neuro-cognitive processes and not (only) to more intense error processing under accuracy instructions, opening up novel perspectives on previous findings.
Cell cycle-specific loading of condensin I is regulated by the N-terminal tail of its kleisin subunit
Authors: Tane Shoji , Shintomi Keishi , Kinoshita Kazuhisa , Tsubota Yuko , Nishiyama Tomoko , Hirano Tatsuya 
Published: August 2022

AbstractCondensin I is a pentameric protein complex that plays an essential role in mitotic chromosome assembly in eukaryotic cells. Although it has been shown that condensin I loading is mitosis-specific, it remains poorly understood how the robust cell cycle regulation of condensin I is achieved. Here we set up a panel of in vitro assays to demonstrate that cell cycle-specific loading of condensin I is regulated by the N-terminal tail (N-tail) of its kleisin subunit CAP-H. Deletion of the N-tail accelerates condensin I loading and chromosome assembly in Xenopus egg mitotic extracts. Phosphorylation-deficient and phosphorylation-mimetic mutations in the CAP-H N-tail decelerate and accelerate condensin I loading, respectively. Remarkably, deletion of the N-tail enables condensin I to assemble mitotic chromosome-like structures even in interphase extracts. Together with other extract-free functional assays in vitro, our results uncover one of the multilayered mechanisms that ensure cell cycle-specific loading of condensin I onto chromosomes.
Earnings management: a bibliometric analysis
Authors: Teixeira Jaime Fernandes , Rodrigues Lúcia Lima 
Published: August 2022

Purpose
The purpose of this paper is to present a bibliometric analysis of earnings management (EM), providing an overview of the main results and research trends in this area. EM is a relevant topic in financial studies. It has been widely studied over the past few decades as a phenomenon of intentional manipulation of financial reporting.

Design/methodology/approach
The Web of Science (WoS) database was used as a source, and this study has adopted VOSviewer as the bibliometric analysis tool to achieve an overview of EM research and understand current research trends on this matter. This study has collected data from 4,342 articles published from 1900 to 2020.

Findings
The conclusions of this study show that EM is strongly related to corporate governance, performance and quality of information. Publication trends and categories are useful to understand the development of trends and current domains in this area. This research analyses the most productive authors, countries and journals. This study conducted a cluster analysis using a keyword perspective to obtain emerging trends in EM. Research in EM through real activities represents a research gap, which can be an opportunity for future research.

Research limitations/implications
The authors recognize as limitations the fact that the study is limited to the WoS database. Another limitation is the keywords used for the search, as this study only uses “earnings management”, as it is the most used keyword in EM literature. An additional limitation is associated with the selection of only one type of document, “articles,” disregarding other types of publications.

Originality/value
Although there are some bibliometric studies on EM, this study found out that they focus on specific EM topics and fail to analyze this theme on a global scale. Most of the literature on this subject is disperse and consequently needs systematization. This research is also relevant for academic purpose, as this research contributes to understanding the state of art and contributes to the development of scientific knowledge by providing a systematization of the literature on the topic of EM.
Effect of selected production parameters on yarn evenness, imperfections and tensile properties of core spun vortex yarns
Authors: Karakan Günaydın Gizem 
Published: August 2022

PurposeThe paper aims to provide an investigation about the effect of some selected production parameters such as core yarn type, sheath sliver type and total yarn count factors on core spun vortex yarns' evenness, imperfection and tensile properties. Hence it is aimed to contribute to the literature in vortex spinning where there are limited works related to core-spun vortex spinning.Design/methodology/approachThe paper evaluates the effect of core yarn type, sheath sliver type and total yarn count factors on yarn evenness, imperfections, hairiness and tensile properties. Completely randomised three-factor analysis of variance (ANOVA) was conducted in order to evaluate the effect of core yarn type, sheath sliver type and linear yarn density on core spun vortex yarns' evenness, imperfection and tensile properties at significance level of 0.05. SNK tests were also performed for observing the means of each parameter. Correlation analysis was also conducted to reveal some relationships between yarn evenness and yarn tensile properties.FindingsIn this paper, significant factors related to some production parameters affecting the core-spun vortex yarns' evenness, imperfection, hairiness and tensile properties were found.Originality/valueThere are limited works related to effect of selected production parameters on yarn evenness, Imperfections and Tensile Properties of Hybrid Vortex Yarns.
How responsive is the poverty to the foreign direct investment inflows in Nigeria? Evidence from linear and non-linear ARDL
Authors: Haruna Muhammad Aminu , Hassan Sallahuddin B. , Ahmad Halima Salihi 
Published: August 2022

PurposeThe aim is to examine the long run and short run linear and non-linear impact of foreign direct investment (FDI) inflows on poverty in Nigeria from 1980 to 2019.Design/methodology/approachThe Augmented Dickey Fuller, Phillips Perron and Kwiatkowski-Phillips-Schmidt-Shin unit root tests and bounds test were used to tests the series stationarity and co-integration, respectively. Autoregressive Distributive Lag (ARDL) and non-linear and linear autoregressive Distributive Lag (NARDL) estimators are employed to examine the long run and short run impact of the coefficients of the variables and diagnostic check.FindingsThe study finds that the variables are integrated at a level I(0) and the first difference I(I) and co-integrated. The ARDL estimator indicates that FDI significantly reduces poverty in the long and short run. The findings under NARDL shows FDI positive shock and FDI negative shock reduces poverty substantially in the long-short run, respectively. The error correction term is negative and significant.Research limitations/implicationsThis study is limited to a single country (time series) and less informative compared with the panel data study with much informative and free from hetero-scedasticity. Future studies should consider panel data using a similar or dissimilar approach.Practical implicationsFDI inflows stimulate growth, thereby creating job openings, transfer of modern technology and reduce poverty and demonstrate that, if the finding integrated into policy actions, the government would attract FDI inflows for the real sector of the economy.Social implicationsFDI inflows lead to environmental degradation if inferior technology is use in the host economy, especially the weak environmental regulations in Nigeria.Originality/valueThe authors find no study that applied both ARDL and NARDL estimator, selection of variables measurement and time frame for the study in the context of Nigeria.Peer reviewThe peer review history for this article is available at: https://publons.com/publon/10.1108/IJSE-08-2020-0530.
A study on adoption enablers of 3D printing technology for sustainable food supply chain
Authors: Panghal Anupama , Vern Priyanka , Mor Rahul S , Panghal Deepak , Sindhu Shilpa , Dahiya Shweta 
Published: August 2022

Purpose3D food printing technology is an emerging smart technology, which because of its inbuilt capabilities, has the potential to support a sustainable supply chain and environmental quality management. This new technology needs a supportive ecosystem, and thus, this paper identifies and models the enablers for adopting 3D printing technology toward a sustainable food supply chain.Design/methodology/approachThe enablers were identified through an extensive literature review and verified by domain experts. The identified enablers were modelled through the hybrid total interpretive structural modelling approach (TISM) and the decision-making trial and evaluation laboratory (DEMATEL) approach.FindingsIt emerged that stakeholders need technical know-how about the 3D printing technology, well supported by a legal framework for clear intellectual property rights ownership. Also, the industry players must have focused and clear strategic planning, considering the need for sustainable supply chains. Moreover, required product innovation as per customer needs may enhance the stakeholders' readiness to adopt this technology.Practical implicationsThe framework proposed in this research provides managers with a hierarchy and categorization of adoption enablers which will help them adopt 3D food printing technology and improve environmental quality.Originality/valueThis research offers a framework for modelling the enablers for 3D food printing to develop a sustainable food supply chain using the TISM and DEMATEL techniques.
Effect of rotating magnetic field on the microstructure and properties of Sn-Ag-Sb lead-free solder alloys
Authors: Wang Zilong , Zhou JiaCheng , Liu Fang , Wu Yuqin , Yan Nu 
Published: August 2022

Purpose
The purpose of this paper is to study the microstructure and properties of Sn-3.5Ag and Sn-3.5Ag-0.5Sb lead-free solder alloys with and without a rotating magnetic field (RMF).

Design/methodology/approach
Optical microscopy, scanning electron microscopy and X-ray diffraction were used to analyze the effect of an RMF on the microstructure of the solders. Differential scanning calorimetry was used to study the influence of the RMF on the thermal characteristics of the solders. The mechanical properties of the alloys were determined by tensile measurements at different strain rates.

Findings
The ß-Sn grains and intermetallic compounds for the Sn-3.5Ag and Sn-3.5Ag-0.5Sb lead-free solder alloys were refined under an RMF, and the morphology of the ß-Sn grains changed from dendritic to equiaxed. The pasty range was significantly reduced under an RMF. The ultimate tensile strength (UTS) of Sn-3.5Ag improved under the RMF, whereas the UTS of Sn-3.5Ag-0.5Sb decreased slightly. The addition of Sb to the Sn-3.5Ag alloy significantly enhanced the UTS and elongation (El.%) of the samples. The UTS of the solder increased with increasing strain rate.

Originality/value
The results revealed that the application of RMF in the molten alloy had a significant effect on its microstructure and mechanical properties. The thermal characteristics of the Sn-3.5Ag and Sn-3.5Ag-0.5Sb solder alloys were improved under the RMF. This research is expected to fill a knowledge gap regarding the behaviour of Sn-Ag solder alloys under RMF.
Trust and knowledge sharing among hospitals during COVID-19: the compound effect of four barriers to organisational trust for knowledge sharing
Authors: von Behr Carl-Magnus , Cleaver Imogen , Minshall Tim , Clarkson P. John 
Published: August 2022

Purpose
COVID-19 highlighted the potential value of improving knowledge sharing (KS) processes among hospital estates and facilities management (HEFM) departments. Organisational trust (OT) is a recognised predictor of KS interactions, but the interplay of impersonal and interpersonal OT components is yet to be investigated fully. In response to recent calls, this study aims to explore the effect of organisational features on personal trust and OT components required for KS episodes, in the context of the English National Health Service (NHS).

Design/methodology/approach
A qualitative, exploratory grounded theory approach was selected, using primary data from 22 semi-structured interviews and secondary data from grey literature. A model of trust for KS among employees from geographically distributed units with pooled interdependence was synthesised from a review of the literature and used to connect the organisational features to different trust mechanisms.

Findings
This study identifies four organisational features with a compound barrier-effect on impersonal-based OT, interpersonal-based OT and personal trust for KS interactions: lack of professional development, inappropriate reward and incentive systems, reorganisations/organisational change and benchmarking.

Research limitations/implications
This study sought to generate theory about the interplay of organisational barriers and trust components required for KS, not to describe HEFM KS across the entire NHS. Future studies with more comprehensive data collections can build on this exploratory study by quantitatively testing the compound barrier effect of the organisational features.

Practical implications
Practitioners can benefit from the insights into the barriers inhibiting trust mechanisms required for effective KS processes. These can inform policymakers in English and potentially other health-care systems in designing enhanced collaborative arrangements, which are required as future crises, e.g. pandemics and climate change hazards, will require increasingly complex solutions.

Originality/value
This study addresses the interplay between personal trust, impersonal OT and interpersonal OT for KS by identifying the compound barrier effects of underlying organisational barriers common to personal trust and OT.
Unravelling the mystery of red flowers in the Mediterranean Basin: How to be conspicuous in a place dominated by hymenopteran pollinators
Authors: León‐Osper Melissa , Narbona Eduardo 
Published: August 2022

AbstractRed‐flowered species have traditionally been related to ornithophily, and the ‘bee avoidance’ hypothesis, that is, red flower colouration is a way to reduce visits from hymenopterans, has been proposed to explain this association. In the Mediterranean Basin, ornithophily is almost absent, and hymenopterans are the most common group of pollinators.The fact that hymenopterans are virtually red‐blind raises the question of how red‐flowered species are pollinated in this region. Are these flowers pollinated by other groups of red‐sensitive insects such as lepidopterans and coleopterans, or do they have visual cues that make them attractive to hymenopterans?We examined the reflectance spectra of 51 red‐flowered species from the Mediterranean Basin and modelled these spectra in the visual system of hymenopterans, dipterans, coleopterans and lepidopterans to obtain colour and conspicuousness. According to their reflectance curves, species were classified as pure red and UV‐red flowers, and the presence of more than one flower colour (patterned flowers) was studied. We evaluated the match between flower reflectance spectra and the maximum discrimination abilities of hymenopteran and lepidopteran visual system. All these metrics were analysed in a phylogenetically explicit framework, and a literature review of potential pollinators was performed.The vast majority of red‐flowered species in the Mediterranean Basin are potentially pollinated by hymenopterans, and only three species are exclusively visited by coleopterans. We found that 90% of these species showed at least one colour signal strategy that helps to enhance conspicuousness to hymenopterans: to produce UV‐red flower type spectra and/or patterned flowers. The UV‐red colour showed a significant phylogenetic signal, but the presence of patterned flowers did not. Even though the red‐flowered species of the Mediterranean Basin did not optimally match the colour vision of hymenopterans or lepidopterans, the presence of patterned and UV‐red colours suggests an improvement in detection and discrimination by hymenopterans.The bee‐avoidance hypothesis seems to be ruled out for the red‐flowered species of the Mediterranean Basin. Our results suggest that red‐flowered species are mostly pollinated by hymenopterans and show different flower colour signal strategies that can be interpreted as signs of adaptation to these pollinators.Read the freePlain Language Summaryfor this article on the Journal blog.
Life‐cycle control of 13‐ and 17‐year periodical cicadas: A hypothesis and its implication in the evolutionary process
Authors: Sota Teiji 
Published: August 2022

AbstractPeriodical cicadas of the genusMagicicadaexhibit a spectacular life‐cycle phenomenon, with periodic mass emergence being observed every 13 or 17 years in the eastern United States. It is entirely unclear how their periodical life cycles are controlled. Here, I review previous knowledge and hypotheses aboutMagicicadalife cycles and propose an integrated hypothesis of the life‐cycle control mechanism, which includes critical body weight for adult metamorphosis, an internal 4‐year clock, associated 4‐year gate in 4 × nyears of age for the timing of the metamorphosis decision, and genetic differences in growth rates between 13‐ and 17‐year cicada nymphs (the former is faster). If the last (fifth) instar nymphs reach critical body weight in any of the 4‐year gates (8, 12, 16, and 20 years of age, but not other years), they prepare for adult eclosion in the following year. The proposed hypothesis can explain the synchronized emergence of cicadas with varying growth trajectories in scheduled years (13 or 17 years of age) and the off‐schedule emergence of some cicadas in 4 years earlier or later than the scheduled year, owing to their phenotypic plasticity that arises in response to large variations in the realized growth rate. The proposed hypothesis can also explain how evolutionary life‐cycle shifts between 13‐ and 17‐year cycles occur through phenotypic plasticity and selection on growth rate during climatic changes. It also facilitates understanding of the evolutionary mechanism ofMaigicicada, which contains three species groups that are parallelly diverged into 13‐ and 17‐year life cycles.