bluuebunny/crossref_metadata_2025_split huggingface dataset:
A rare non-coding enhancer variant inSCN5Acontributes to the high prevalence of Brugada syndrome in Thailand
Authors: Walsh Roddy , Mauleekoonphairoj John , Mengarelli Isabella , Verkerk Arie O. , Bosada Fernanda M. , van Duijvenboden Karel , Poovorawan Yong , Wongcharoen Wanwarang , Sutjaporn Boosamas , Wandee Pharawee , Chimparlee Nitinan , Chokesuwattanaskul Ronpichai , Vongpaisarnsin Kornkiat , Dangkao Piyawan , Wu Cheng-I , Tadros Rafik , Amin Ahmad S. , Lieve Krystien V.V. , Postema Pieter G. , Kooyman Maarten , Beekman Leander , Sahasatas Dujdao , Amnueypol Montawatt , Krittayaphong Rungroj , Prechawat Somchai , Anannab Alisara , Makarawate Pattarapong , Ngarmukos Tachapong , Phusanti Keerapa , Veerakul Gumpanart , Kingsbury Zoya , Newington Taksina , Maheswari Uma , Ross Mark T. , Grace Andrew , Lambiase Pier D. , Behr Elijah R. , Schott Jean-Jacques , Redon Richard , Barc Julien , Christoffels Vincent M. , Wilde Arthur A.M. , Nademanee Koonlawee , Bezzina Connie R. , Khongphatthanayothin Apichai 
Published: December 2023

AbstractBrugada syndrome (BrS) is a cardiac arrhythmia disorder that causes sudden death in young adults. Rare genetic variants in theSCN5Agene, encoding the Nav1.5 sodium channel, and common non-coding variants at this locus, are robustly associated with the condition. BrS is particularly prevalent in Southeast Asia but the underlying ancestry-specific factors remain largely unknown. Here, we performed genome sequencing of BrS probands from Thailand and population-matched controls and identified a rare non-coding variant in anSCN5Aintronic enhancer that is highly enriched in BrS cases (3.9% in cases, odds ratio 20.2-45.2) and predicted to disrupt a Mef2 transcription factor binding site. Heterozygous introduction of the enhancer variant in human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) caused significantly reducedSCN5Aexpression from the variant-containing allele and a 30% reduction in Nav1.5-mediated sodium-current density compared to isogenic controls. This is the first example of a validated rare non-coding variant at theSCN5Alocus and partly explains the increased prevalence of BrS in this geographic region.
Machine learning approaches to assess microendemicity and conservation risk in cave-dwelling arachnofauna
Authors: Steiner Hugh G , Aharon Shlomi , Ballesteros Jesús , Gainett Guilherme , Gavish-Regev Efrat , Sharma Prashant P 
Published: December 2023

AbstractThe biota of cave habitats faces heightened conservation risks, due to geographic isolation and high levels of endemism. Molecular datasets, in tandem with ecological surveys, have the potential to delimit precisely the nature of cave endemism and identify conservation priorities for microendemic species. Here, we sequenced ultraconserved elements ofTegenariawithin, and at the entrances of, 25 cave sites to test phylogenetic relationships, combined with an unsupervised machine learning approach to delimit species. Our data identified clear species limits, as well as the incidence of previously unidentified, potential cryptic species. We employed the R package canaper and Categorical Analysis of Neo- and Paleo-Endemism (CANAPE) to generate conservation metrics that are informative for future policy, in tandem with conservation assessments for the troglobitic Israeli species of this genus.
A unified data infrastructure to support large-scale rare disease research
Authors: Johansson Lennart F. , Laurie Steve , Spalding Dylan , Gibson Spencer , Ruvolo David , Thomas Coline , Piscia Davide , de Andrade Fernanda , Been Gerieke , Bijlsma Marieke , Brunner Han , Cimerman Sandi , Yavari Dizjikan Farid , Ellwanger Kornelia , Fernandez Marcos , Freeberg Mallory , van de Geijn Gert-Jan , Kanninga Roan , Maddi Vatsalya , Mehtarizadeh Mehdi , Neerincx Pieter , Ossowski Stephan , Rath Ana , Roelofs-Prins Dieuwke , Stok-Benjamins Marloes , van der Velde K. Joeri , Veal Colin , van der Vries Gerben , Wadsley Marc , Warren Gregory , Zurek Birte , Keane Thomas , Graessner Holm ,   Solve-RD consortium, Beltran Sergi , Swertz Morris A. , Brookes Anthony J. 
Published: December 2023

AbstractThe Solve-RD project brings together clinicians, scientists, and patient representatives from 51 institutes spanning 15 countries to collaborate on genetically diagnosing (“solving”) rare diseases (RDs). The project aims to significantly increase the diagnostic success rate by co-analysing data from thousands of RD cases, including phenotypes, pedigrees, exome/genome sequencing and multi-omics data. Here we report on the data infrastructure devised and created to support this co-analysis. This infrastructure enables users to store, find, connect, and analyse data and metadata in a collaborative manner. Pseudonymised phenotypic and raw experimental data are submitted to the RD-Connect Genome-Phenome Analysis Platform and processed through standardised pipelines. Resulting files and novel produced omics data are sent to the European Genome-phenome Archive, which adds unique file identifiers and provides long-term storage and controlled access services. MOLGENIS “RD3” and Café Variome “Discovery Nexus” connect data and metadata and offer discovery services, and secure cloud-based “Sandboxes” support multi-party data analysis. This proven infrastructure design provides a blueprint for other projects that need to analyse large amounts of heterogeneous data.
SPPiDDRs: a new gene family in dicot plants involved in DNA-Damage Response
Authors: Hammoudi Valentin , Goldbecker Elisa , Herbst Josephine , Linnenbrügger Loreen , von Schaewen Antje , Kunze Reinhard 
Published: December 2023

ABSTRACTLiving organisms must maintain the integrity of their genome, and plants are not exempt. In plants, recognition of DNA damage converges at the transcription factor SOG1, a functional homolog of the animal p53 protein. SOG1 directly controls the expression of hundreds of genes and orchestrates a sophisticated network of signaling pathways termed DNA-damage response (DDR). Only recently, several long non-coding RNA (lncRNA) loci were identified to be upregulated by DNA damage, and only a handful have been confirmed to actively contribute to DDR. In this study, we focused on one locus annotated as lncRNA and found that it is strongly and quickly upregulated upon DNA damage and is a direct target of SOG1. Combiningin silicoand experimental analyses, we demonstrate that this locus was wrongly annotated as lncRNA and is in fact a gene coding for a short protein that targets peroxisomes. Consequently, we renamed this locusSHORTPEROXISOMALPROTEIN INDUCED INDNA-DAMAGERESPONSE1(SPPiDDR1).SPPiDDRsare well conserved and present in multiple copies across dicot genomes, with Arabidopsis containing two additional copies,SPPiDDR2andSPPiDDR3. TheAtSPPiDDRparalogs differ on the transcriptional level,SPPiDDR3being the least active.SPPiDDR1andSPPiDDR2are both also induced by salt, a stress treatment known to indirectly induce DNA damage via oxidative stress. We show that these two genes act redundantly and inhibit plant growth in response to salt stress.
Bidirectional substrate shuttling between the 26S proteasome and the Cdc48 ATPase promotes protein degradation
Authors: Li Hao , Ji Zhejian , Paulo Joao A. , Gygi Steven P. , Rapoport Tom A. 
Published: December 2023

SUMMARYMost eukaryotic proteins are degraded by the 26S proteasome after modification with a polyubiquitin chain. Substrates lacking unstructured segments cannot be degraded directly and require prior unfolding by the Cdc48 ATPase (p97 or VCP in mammals) in complex with its ubiquitin-binding partner Ufd1-Npl4 (UN). Here, we use purified yeast components to reconstitute Cdc48-dependent degradation of well-folded model substrates by the proteasome. We show that a minimal system consists of the 26S proteasome, the Cdc48-UN ATPase complex, the proteasome cofactor Rad23, and the Cdc48 cofactors Ubx5 and Shp1. Rad23 and Ubx5 stimulate polyubiquitin binding to the 26S proteasome and the Cdc48-UN complex, respectively, allowing these machines to compete for substrates before and after their unfolding. Shp1 stimulates protein unfolding by the Cdc48-UN complex, rather than substrate recruitment.In vivoexperiments confirm that many proteins undergo bidirectional substrate shuttling between the 26S proteasome and Cdc48 ATPase before being degraded.
The preparation and corrosion resistance of superhydrophobic coating on Cu plate via two-step electrodeposition
Authors: Song Zhengwei , Zhang Shengjian , Ding Lifeng , Wu Xuejing , Long Ning 
Published: December 2023

Purpose
The purpose of this paper was prepared a Ni-based superhydrophobic coating on the surface of copper to enhence its corrosion resistance. The superhydrophobic coating (SHPC) has proven to be an effective surface treatment in corrosion protection. In this paper, a Ni-based SHPC was prepared on the surface of copper (Cu) to enhance its corrosion resistance.

Design/methodology/approach
The coating was prepared through a two-step electrodeposition process. The first step involves the formation of a micro-nano structure Ni layer formed by an electrodeposition process. Subsequently, the polysiloxane layer was deposited on the Ni surface to create an SHPC. The morphology, composition, structure, wettability and corrosion resistance of the coating were characterized and discussed.

Findings
The results show that the water contact angle of the as-prepared coating reaches 155.5°±1.0°. The corrosion current density (icorr = 3.90 × 10−9 A·cm−2) decreased by three orders of magnitude compared to the substrate, whereas |Z|f = 0.01 Hz (2.40 × 106 Ω·cm2) increased by three orders of magnitude. It indicated that the prepared coating has excellent superhydrophobicity and high corrosion resistance, which can provide better protection for the substrate.

Originality/value
The prepared coating provides long-lasting protection for Cu and other metals and offers valuable data for developing SHPCs.
Balancing the environment and customer value: evaluation of the attractiveness of label-free plastic bottles for green tea
Authors: Kato Takumi , Endo Yuko , Fujiwara Sayu , Zhu Yu , Umeyama Takahiko , Kamei Susumu 
Published: December 2023

PurposeAs a measure against plastic waste, Coca-Cola and Evian have begun introducing label-free plastic bottles. Food labels have long been recognized as an important marketing tool, but there is a lack of research on label-free products. To address this gap, this study examined the influence of label-free design on product attractiveness in the Japanese green tea market.Design/methodology/approachIf existing products are used in an experiment, respondents would be subject to brand image bias. Hence, by mechanically combining the main design elements (cap shape, bottle style, decoration line, logo and label) with an orthogonal array, the conditions for bottles with and without labels are completely aligned. The authors conducted an online survey and applied the chi-square test to the attractiveness of 18 designs presented in random order.FindingsLabel-free designs were more attractive to consumers than labeled designs. The effect was higher among female, middle-aged and older adults; those with higher annual income and low-frequency purchasers.Practical implicationsPractitioners should adopt a label-free design that can satisfy both environmental considerations and customer value. It would be a formidable challenge to change the longstanding emphasis placed on label design, but this study demonstrates the value of doing so.Originality/valueThis is the first study in the package design literature on the advantages of label-free plastic bottles. The authors also applied an orthogonal array used for many years to optimize objective numerical values in marketing research.
A multi-level tool to support the circular economy decision-making process in agri-food entrepreneurship
Authors: Coluccia Benedetta , Palmi Pamela , Krstić Mladen 
Published: December 2023

PurposeThe present study is aimed at developing a multi-level framework for assessing circularity in agri-food industries by providing the user with a step-by-step approach and selecting a customized set of indicators capable of accurately assessing the circular economy (CE) level.Design/methodology/approachThe framework is composed of four stages. In the first stage, a CE theoretical model based on operations, product and services, culture, organization and ecosystem criteria has been implemented and adapted to the agri-food sector. In the second stage, users are required to collect a set of indicators capable of measuring each criterion. In the third stage, a weight is assigned to each indicator using analytical hierarchy process (AHP). Lastly, a geometric multi-criteria decision-making (MCDM) model, called axial distance-based aggregated measurement (ADAM) model, is used to normalize, assess and aggregate the results and produce final scores for the different alternatives to be ranked based on their final circularity scores.FindingsThe model can be a useful tool to support corporate decisions in the CE, making entrepreneurs aware of their starting level. It indicates the extent to which companies are implementing circular business models across different dimensions and, thus, where they are still lacking.Originality/valueBeyond the attempts to measure the circularity of corporate performance from a purely environmental perspective, the study adopts a holistic view, considering the complexity and disruption of all the principles of the CE.
Board gender diversity and firm performance: the moderating role of financial technology
Authors: Sanad Zakeya , Al Lawati Hidaya 
Published: December 2023

Purpose
In recent years, the field of financial technology (Fintech) has garnered significant attention due to advancements in technology, evolving consumer preferences and the growing need for financial services that are more accessible and user-friendly. The exponential expansion of Fintech is presenting novel prospects and obstacles for business. This study aims to investigate the relationship between gender diversity on corporate boards and firms’ performance, with a particular focus on the moderating role of Fintech.

Design/methodology/approach
The study sample consisted of financial sector firms listed on the Bahrain Bourse (banks and insurance firms) during the period 2016–2022. The data were gathered primarily from annual reports and the Bahrain Bourse website. The independent variable represents the percentage of female directors on corporate boards while firms’ accounting and market-based performance were measured using return on assets and Tobin’s Q variables. The moderating variable, Fintech, was measured using a checklist developed using the Global Fintech Adoption Index. Fixed effect (FE) regression was used to analyze the study data. An alternative gender diversity measure was used to test the reliability of the main regression analysis.

Findings
The results of the study indicate a positive relationship between gender diversity on corporate boards and financial performance. Additionally, the findings of the study highlighted the positive impact of Fintech practices on firms’ performance. Nevertheless, the impact of Fintech on the relationship between board gender diversity and corporate performance was found to be insignificant.

Research limitations/implications
The study sample included a particular sector in a single country, which may limit the generalizability of the findings. Also, the current study applied FE regression to analyze the data; however, other econometric approaches could be used to overcome the endogeneity issue.

Practical implications
The findings of this study may have implications for policymakers and society, particularly in terms of promoting gender diversity and Fintech innovation.

Originality/value
This study contributes to the existing body of research by examining the potential impact of the percentage of female directors and the utilization of Fintech on firms’ performance in Bahrain. Given the ongoing endeavors to provide advanced Fintech solutions in the financial sector and the increasing focus on enhancing gender diversity in Bahraini corporate boards, this research aims to provide additional evidence in this domain. Moreover, this study stands out as one of the limited number of research endeavors that use Fintech as a moderating variable in the investigation of the impact of female directors on firms’ performance.
Lean Six Sigma, effectiveness, and efficiency of internal auditing
Authors: Asnaashari Hamideh , Khodabandehlou Fatemeh 
Published: December 2023

Purpose
In light of the recent changes in the internal audit (IA) landscape, the role of auditors has undergone a significant transformation. This paper aims to investigate the effects of applying Lean Six Sigma (LSS) techniques on the effectiveness and efficiency of IA.

Design/methodology/approach
The study used a quantitative approach, surveying Iranian internal auditors with a sample size of 384 participants. Data analysis involved confirmatory factor analysis and structural equation modeling.

Findings
The analyses demonstrate a significant association between LSS application and IA effectiveness and efficiency. In addition, an exploratory analysis indicates that the application of LSS techniques by less experienced internal auditors had a reverse effect on IA function quality as a component of IA competency. However, IA motivation factors, including education and position, did not mediate the impact of LSS on IA effectiveness and efficiency.

Research limitations/implications
This study was conducted with Iranian internal auditors, which may limit the generalizability of the findings to other countries. However, the primary academic implication of this research lies in its novel perspective on emphasizing the concept of continuous improvement in IA through the use of LSS techniques. By focusing on the need for internal auditors to add value to the business in new ways, this research contributes to the literature on IA quality.

Practical implications
This study has significant implications for the effective management of IA departments. By promoting the application of LSS techniques in IA, lean auditing is enhanced, and IA can create value by improving the quality of its functions. Moreover, IA regulators can benefit from this study as it emphasizes providing guidance and training on LSS techniques to enhance IA skills.

Originality/value
This research is pioneering in applying LSS methodology to enhance the effectiveness and efficiency of internal auditing. It also considers the integration of lean thinking into current audit practices, making it unique and valuable in internal auditing research.
International evidence on the monitoring role of foreign institutional investors in corporate investment efficiency
Authors: Ilyas Muhammad , Mian Rehman Uddin , Mian Affan 
Published: December 2023

PurposeThis study examines whether and how the legal origin of foreign institutional investors (FIIs) impacts corporate investment efficiency.Design/methodology/approachThe study employs a large panel dataset of firms from 32 non-USA countries from 2005 to 2018. Financial and institutional ownership data are obtained from the COMPUSTAT Global and Public Ownership databases in S&P Capital IQ, respectively. The study employed ordinary least squares (OLS) regression with year and firm fixed effects. In addition, two-stage least squares with instrumental variable regression (2SLS-IV) and propensity score matching (PSM) approaches were employed to address the potential endogeneity.FindingsThe findings of this study suggest that common- and civil-law FIIs differ in their monitoring capabilities to promote investment efficiency. The authors find evidence that increased equity ownership by common-law FIIs, not civil-law investors, strengthens the investment-Q sensitivity, resulting in higher investment efficiency. Consistent with the monitoring and information channel, the results further indicate that the positive impact of common-law FIIs on investment efficiency is stronger in host environments susceptible to agency conflicts and information asymmetry.Originality/valueThis study offers novel evidence on the heterogeneous monitoring role of FIIs with regard to their home countries' legal origins and their impact on investment efficiency in an international context.
Achieving carbon neutrality for the improvement of the business performance: a systematic literature review and future research directions
Authors: Mukherjee Subhodeep , Baral Manish Mohan , Singh Rajesh Kumar , Chittipaka Venkataiah , Kamble Sachin S. 
Published: December 2023

PurposeWith the change in climate and increased pollution, there has been a need to reduce environmental carbon emissions. This research aims to develop a framework for reducing environmental carbon footprints to improve business performance.Design/methodology/approachThis study uses Scientific Procedures and Rationales for the Systematic Literature Reviews (SPAR-4-SLR) approach. Articles are searched in the Scopus database using various keywords and their combinations. It resulted in 651 articles initially. After applying different screening criteria, 61 articles were considered for the final study.FindingsThis study provided four themes and sub-themes within each category. This research also used theories, methodologies and context (TMC) framework to provide future research questions. This study used the antecedents, decisions and outcomes (ADO) framework for synthesising the findings. The ADO framework will help to achieve carbon neutrality and improve firms' supply chain (SC) performance.Research limitations/implicationsThis study provides theoretical implications by highlighting the various theories that can be used in future research. This study also states the practical implications for the achievement of carbon neutrality by the firms.Originality/valueThis study contributes to the literature linking carbon neutrality with business performance.