bluuebunny/crossref_metadata_2025_split huggingface dataset:
Assessing the contribution of rare variants to congenital heart disease through a large-scale case-control exome study
Authors: Audain Enrique , Wilsdon Anna , Dombrowsky Gregor , Sifrim Alejandro , Breckpot Jeroen , Perez-Riverol Yasset , Loughna Siobhan , Daly Allan , Antoniou Pavlos , Hofmann Philipp , Perez-Riverol Amilcar , Kahlert Anne-Karin , Bauer Ulrike , Pickardt Thomas , Klaassen Sabine , Berger Felix , Daehnert Ingo , Dittrich Sven , Stiller Brigitte , Abdul-Khaliq Hashim , Bu’lock Frances , Uebing Anselm , Kramer Hans-Heiner , Iyer Vivek , Larsen Lars Allan , Brook J David , Hitz Marc-Phillip 
Published: December 2023

ABSTRACTSeveral studies have demonstrated the value of large-scale human exome and genome data analysis, to maximise gene discovery in rare diseases. Using this approach, we have analysed the exomes of 4,747 cases and 52,881 controls, to identify single genes and digenic interactions which confer a substantial risk of congenital heart disease (CHD). We identified both rare loss-of-function and missense coding variants in ten genes which reached genome-wide significance (Bonferroni adjustedP< 0.05) and an additional four genes with a significant association at a false discovery rate (FDR)threshold of 5%. We highlight distinct genetic contributions to syndromic and non-syndromic CHD at both single gene and digenic level, by independently analysing probands from these two groups. In addition, by integrative analysis of exome data with single-cell transcriptomics data from human embryonic hearts, we identified cardiac-specific cells as well as putative biological processes underlying the pathogenesis of CHD. In summary, our findings strengthen the association of known CHD genes, and have identified additional novel disease genes and digenic interactions contributing to the aetiology of CHD.
A Bibliometric Approach to Scientific Production on Familial Hypophosphatemic Rickets in Scopus (2000-2022)
Authors: Hernández-García Frank , Gil-Peña Helena , Rodríguez Suárez Julián , López García José Manuel , Fuente Pérez Rocío , Carbajosa Patricia Oro , Corrales-Reyes Ibrain Enrique 
Published: December 2023

AbstractBackgroundHypophosphatemic rickets are disabling conditions that negatively impact physical functioning, activities of daily living, mental health, social life, and leisure activities. The most common cause of Hypophosphatemic rickets is genetic factors, such as X-linked hypophosphatemia. The evaluation of the scientific application of familial hypophosphatemic rickets aids in understanding the research landscape, identifying opportunities for improvement, and promoting significant advancements in the understanding and treatment of this medical condition.MethodsAn observational, descriptive, and cross-sectional study was conducted through a bibliometric analysis of the scientific output of the Familial Hypophosphatemic Rickets published in journals indexed in Scopus during 2020-2022. To retrieve the publications, Scopus was accessed on April 4, 2023, and an advanced search was performed using a filter by title, abstract and key words, source (journals), publication year, and type of article (article and review). The search terms used were extracted from the PubMed Medical Subject Headings (MeSH) related to the disease included in the MeSH catalog. Additionally, an analysis of co-occurrence between countries and keywords was carried out with VOSviewer software.ResultsThis study identified 1,269 articles on hypophosphatemic rickets (938 articles and 331 reviews). In total, 39,548 citations were received, with an H index of 95. The majority of the articles (76.9%) were published in high-impact journals (Q1 and Q2 journals). Scientific production has shown a growing trend in recent years. The countries with the highest scientific production are the U.Ss, Japan, and the United Kingdom, considering that middle- and low-income countries contribute less to international scientific production.ConclusionsScientific production has shown sustained growth in recent years. The U.Ss solidifies itself as the country leading scientific production on hypophosphatemic rickets.
DNA Methylation-Based High-Resolution Mapping of Long-Distance Chromosomal Interactions in Nucleosome-Depleted Regions
Authors: Li Yi , Lee James , Bai Lu 
Published: December 2023

Abstract3C-based methods have significantly advanced our understanding of 3D genome organization. However, it remains a formidable task to precisely capture long-range chromosomal interactions between individual loci, such as those between promoters and distal enhancers. Here, we presentMethyltransferaseTargeting-based chromosomeArchitectureCapture (MTAC), a method that maps the contacts between a target site (viewpoint) and the rest of the genome in budding yeast with high resolution and sensitivity. MTAC detects hundreds of intra-and inter-chromosomal interactions within nucleosome-depleted regions (NDRs) that cannot be captured by 4C, Hi-C, or Micro-C. By applying MTAC to various viewpoints, we find that 1) tethering to the nuclear pore complex (NPC) is a major mechanism that mediates long-distance chromosomal interactions in yeast, 2) genes co-regulated by methionine assemble into inter-chromosomal clusters near NPCs upon activation, 3) mediated by condensin, the mating locus forms a highly specific interaction with the recombination enhancer (RE) in a mating-type specific manner, and 4) correlation of MTAC signals among NDRs reveal spatial mixing and segregation of the genome. Overall, these results demonstrate MTAC as a powerful tool to resolve fine-scale long-distance chromosomal interactions and provide insights into the 3D genome organization.
Assessing the effect of baby schema cuteness on emotions, perceptions and attitudes towards insect-based packaged foods
Authors: Marquis Didier , Reinoso Carvalho Felipe , Pantin-Sohier Gaëlle 
Published: December 2023

PurposeAversion linked to disgust and neophobia is the primary reason for human reluctance towards edible insects as a sustainable food source. Stimulating positive emotions may overcome these mental barriers. Cute visuals and claims on product packaging can trigger positive affective responses in consumers whilst modulating taste expectations. This study investigated how these elements influence emotions, perceptions and attitudes towards insect-based foods.Design/methodology/approachAn online cross-cultural study involving French (n = 747) and Colombian (n = 695) consumers was conducted using two insect-based products: chips (hedonic) and bread (functional). Ten visual packaging variations were created per product, emphasising palatability, sustainability, nutrition and popularity (plus a control: no claim) affixed to the image of a cute anthropomorphic cricket or its silhouette. Visual appreciation and associations were assessed along with the participants' degree of food variety seeking, familiarity with entomophagy and openness to consuming edible insects.FindingsDifferences were reported in emotions, perceptions and attitudes based on the combination of packaging elements, product type and consumer segments. The findings suggest that food marketers should use cute insect depictions linked to palatability-focussed claims to alleviate young French adults' reluctance towards insect-based foods (IFs). Colombians responded better to pro-social claims and neutrally to cuteness.Practical implicationsThe results should be valuable to stakeholders seeking to enhance food marketing strategies related to IFs amongst target consumer segments.Originality/valueThis study is the first to assess how baby schema cuteness induces emotional changes towards IFs and how it affects perceptions and attitudes amongst distinct populations and age segments.
The value of psychological ownership: how buy-online-and-pick-up-in-store enhances consumer loyalty
Authors: Li You , Chang Yaping , Li Zhen , Geng Lixiao 
Published: December 2023

Purpose
Although buy-online-and-pick-up-in-store (BOPS) has been widely implemented by companies, scant attention has been paid to its effect on consumer experience and the concomitant outcomes. Using the psychological ownership theory, this study aims to examine whether and how the BOPS experience (vs online experience) can enhance consumer loyalty.

Design/methodology/approach
Study 1 investigated the consumer loyalty of shopping experience (self-pickup vs delivery) on actual consumer behavior through secondary data. Studies 2, 3 and 4 were controlled experiments to further investigate the mediating effect of product psychological ownership, and the moderating effects of product type and postdecision experience valence.

Findings
The authors found that BOPS shopping led to higher consumer loyalty (i.e. repeat purchase and repeat purchase frequency) compared with online shopping. Furthermore, the authors examined that this effect was mediated by product psychological ownership and moderated by product type and postdecision experience valence.

Research limitations/implications
Theoretical speculations about how BOPS shopping affects consumer experience should be probed in future research.

Practical implications
Retailers with physical stores can offer in-store pickup options for their online consumers to increase their product psychological ownership and consumer loyalty. And the positive effects of the BOPS strategy relied on product type and postdecision experience valence.

Originality/value
This research offers theoretical contributions to research on the BOPS strategy, psychological ownership theory and consumer loyalty.
Continuous professional development of LIS professionals in academic libraries: channels, challenges and motivation
Authors: Rehman Ikhlaq ur , Majeed Uzma , Ganaie Shabir Ahmad 
Published: December 2023

Purpose
Continuous professional development (CPD) plays a crucial role in the library workplace by equipping library and information science (LIS) professionals with the skills and technical knowledge to bridge the theory-praxis gap, assuring that library practitioners and their organisations continue to innovate and stay successful and tailored to the requirement of their users. The aim of the study was to investigate the channels of CPD for LIS professionals working in the university libraries of Northern India. Also, it explored the motivations and barriers related to the LIS professionals’ CPD.

Design/methodology/approach
The study adopted a quantitative research design followed by the survey research method. The study population included LIS professionals working in the university libraries of Northern India. Data was gathered from 177 respondents via the census sampling method.

Findings
LIS professionals engaged in CPD activities through multiple channels. Intrinsic factors primarily governed the motivation for CPD. Similarly, time and finance were significant challenges for LIS CPD. Lastly, most libraries were headed by in-charge librarians (non-professionals). De-professionalisation, or the deliberate de-skilling of professional roles, threatens the basis upon which librarians establish their credibility as professionals.

Originality/value
To the best of the authors’ knowledge, the study is the first of its kind from the perspective of a developing country, adding to the CPD literature in academic libraries.
Progress and trends in healthcare marketing strategy (2018–2022): A descriptive and bibliometric analysis of the Web of Science (WOS) dataset
Authors: Kar Rohan , Wasnik Anurag 
Published: December 2023

Purpose
Health-care marketing typically entails a coordinated set of outreach and communications designed to attract consumers (patients in the health-care context) who require services for a better health outcome and guide them throughout their health-care journey to achieve a higher quality of life. The purpose of this study is to understand the progress and trends in healthcare marketing strategy (HMS) literature between 2018 and 2022, with a special emphasis on the pre- and post-Covid-19 periods.

Design/methodology/approach
The authors examine 885 HMS-related documents from the WOS database between 2018 and 2022 that were extracted using a keyword-based search strategy. After that, the authors present the descriptive statistics related to the corpus. Finally, the authors use author co-citation analysis (ACA) and bibliographic coupling (BC) techniques to examine the corpus.

Findings
The authors present the descriptive statistics as research themes, emerging sub-research areas, leading journals, organisations, funding agencies and nations. Further, the bibliometric analysis reveals the existence of five thematic clusters: Cluster 1: macroeconomic and demographic determinants of healthcare service delivery; Cluster 2: strategies in healthcare marketing; Cluster 3: socioeconomics in healthcare service delivery; Cluster 4: data analytics and healthcare service delivery; Cluster 5: healthcare product and process innovations.

Research limitations/implications
This study provides an in-depth analysis of the advancements made in HMS-related research between 2018 and 2022. In addition, this study describes the evolution of research in this field from before to after the Covid-19 pandemic. The findings of this study have both research and practical significance.

Originality/value
To the best of the authors’ knowledge, this is the first study of its kind to use bibliometric analysis to identify advancements and trends in HMS-related research and to examine the pattern before and after Covid-19 pandemic.
Stability analysis of partial journal bearings lubricated with micropolar fluid
Authors: Sharma Sanyam , Verma Rajiv 
Published: December 2023

Purpose
This study aims to investigate the stability performance of partial journal bearings of 120° and 180° partial angles with micropolar lubricant.

Design/methodology/approach
To investigate the stability characteristics of partial journal bearing, a MATLAB source code is written. To solve the Reynolds’ equation, the finite element method is used. Stability performances of 120° and 180° partial journal bearings are computed for a wide range of non-dimensional micropolar fluid parameters and working eccentricities.

Findings
The presented results provide design data for stability parameters in terms of equivalent stiffness, whirl frequency ratio, critical mass and threshold speed of the rotor with respect to eccentricities and material size of the lubricant. The stability of 180° partial journal bearing is found to be higher than 120° partial journal bearing.

Originality/value
In open literature, it is rare to find the stability of a partial journal bearing lubricated with micropolar fluid. Very few researchers have studied the combined effect of eccentricities and micropolar lubricant parameters on the dynamic performance of such bearings. Hence, it is important to study the dynamic stability to explore the complete investigation of the performance of partial journal bearings with micropolar fluid.
Fiber reinforced additive manufacturing: structurally motivated print orientation and sequential topology optimization of anisotropic material
Authors: Ray Noah , Kim Il Yong 
Published: December 2023

Purpose
Fiber reinforced additive manufacturing (FRAM) is an emerging technology that combines additive manufacturing and composite materials. As a result, design freedom offered by the manufacturing process can be leveraged in design optimization. The purpose of the study is to propose a novel method that improves structural performance by optimizing 3D print orientation of FRAM components.

Design/methodology/approach
This work proposes a two-part design optimization method that optimizes 3D global print orientation and topology of a component to improve a structural objective function. The method considers two classes of design variables: (1) print orientation design variables and (2) density-based topology design variables. Print orientation design variables determine a unique 3D print orientation to influence anisotropic material properties. Topology optimization determines an optimal distribution of material within the optimized print orientation.

Findings
Two academic examples are used to demonstrate basic behavior of the method in tension and shear. Print orientation and sequential topology optimization improve structural compliance by 90% and 58%, respectively. An industry-level example, an aerospace component, is optimized. The proposed method is used to achieve an 11% and 15% reduction of structural compliance compared to alternative FRAM designs. In addition, compliance is reduced by 43% compared to an equal-mass aluminum design.

Originality/value
Current research surrounding FRAM focuses on the manufacturing process and neglects opportunities to leverage design freedom provided by FRAM. Previous FRAM optimization methods only optimize fiber orientation within a 2D plane and do not establish an optimized 3D print orientation, neglecting exploration of the entire orientation design space.
A CRISPR‐based strategy for targeted sequencing in biodiversity science
Authors: Littleford‐Colquhoun Bethan , Kartzinel Tyler R. 
Published: December 2023

AbstractMany applications in molecular ecology require the ability to match specific DNA sequences from single‐ or mixed‐species samples with a diagnostic reference library. Widely used methods for DNA barcoding and metabarcoding employ PCR and amplicon sequencing to identify taxa based on target sequences, but the target‐specific enrichment capabilities of CRISPR‐Cas systems may offer advantages in some applications. We identified 54,837 CRISPR‐Cas guide RNAs that may be useful for enriching chloroplast DNA across phylogenetically diverse plant species. We tested a subset of 17 guide RNAs in vitro to enrich plant DNA strands ranging in size from diagnostic DNA barcodes of 1,428 bp to entire chloroplast genomes of 121,284 bp. We used an Oxford Nanopore sequencer to evaluate sequencing success based on both single‐ and mixed‐species samples, which yielded mean chloroplast sequence lengths of 2,530–11,367 bp, depending on the experiment. In comparison to mixed‐species experiments, single‐species experiments yielded more on‐target sequence reads and greater mean pairwise identity between contigs and the plant species' reference genomes. But nevertheless, these mixed‐species experiments yielded sufficient data to provide ≥48‐fold increase in sequence length and better estimates of relative abundance for a commercially prepared mixture of plant species compared to DNA metabarcoding based on the chloroplast trnL‐P6 marker. Prior work developed CRISPR‐based enrichment protocols for long‐read sequencing and our experiments pioneered its use for plant DNA barcoding and chloroplast assemblies that may have advantages over workflows that require PCR and short‐read sequencing. Future work would benefit from continuing to develop in vitro and in silico methods for CRISPR‐based analyses of mixed‐species samples, especially when the appropriate reference genomes for contig assembly cannot be known a priori.
GIMAP7 inhibits epithelial‐mesenchymal transition and glycolysis in lung adenocarcinoma cells via regulating the Smo/AMPK signaling pathway
Authors: Cui Liyuan , Shen Yumei , Duan Shanzhou , Ding Qifeng , Wang Yifei , Yang Wentao , Chen Yongbing 
Published: December 2023

AbstractBackgroundGTPase immunity‐associated protein 7 (GIMAP7) has been previously recognized as a prognostic marker in pan‐cancer. Our objective was to explore the function of GIMAP7 in the progression of lung adenocarcinoma (LUAD).MethodsGIMAP7 was overexpressed by transfection with GIMAP7 plasmid, and knocked down using siRNAs. The biological functions of GIMAP7 were examined by employing CCK‐8, EdU, colony formation, flow cytometry, wound healing, and transwell assays. The effects of GIMAP7 on the extracellular acidification rate (ECAR), oxygen consumption rate (OCR), lactate production, and glucose uptake were evaluated. In addition, the related mRNA and protein expression was detected employing immunohistochemical, western blot, and qRT‐PCR. A xenograft tumor model was established in nude mice to evaluate the effects of GIMAP7 on tumor growth.ResultsGIMAP7 was lowly expressed in LUAD tissues and cells. GIMAP7 inhibited the proliferation, mobility, EMT, glycolysis, but promoted apoptosis in LUAD cells. Moreover, we also confirmed that GIMAP7 suppressed Smo/AMPK signaling in LUAD cells. By adding the Smo agonist SAG and AMPK agonist GSK621, the results of rescue experiments further verified that GIMAP7 played a role in LUAD inhibition through inhibition of the Smo/AMPK signaling pathway. Furthermore, the role of GIMAP7 in inhibiting tumor growth was verified in vivo.ConclusionsThese results demonstrate that GIMAP7 could inhibit cell proliferation, mobility and glycolysis, but accelerate apoptosis via repressing the Smo/AMPK signaling pathway in LUAD.
The maturing of anthropology
Authors: Miller Daniel 
Published: December 2023

AbstractAs anthropology reaches maturity, its contributions are likely to grow. This is because the discipline's practitioners, in writing parochial ethnography, can link a respect for individual difference to our understanding of global humanity. Such a practice aligns with the growing political struggle to retain meaning in an expanding world. Moreover, anthropology's commitment to life as lived research, including private domains and engagement with digital worlds, will also become more significant, while anthropology's ethos of empathy will expand beyond the human. Reaching maturity will require a further repudiation of inequality and colonialism, developing a different relationship to theory, philosophy, and engaged anthropology, as well as fostering a much wider commitment to global education.
Health care professionals' experiences of pain management in the intensive care unit: a qualitative study
Authors: Bhattacharyya A. , Laycock H. , Brett S. J. , Beatty F. , Kemp H. I. 
Published: December 2023

SummaryDespite the existence of evidence‐based guidelines for the assessment and management of pain in the critical care setting, the prevalence of acute pain remains high. Inadequate pain management is associated with longer duration of mechanical ventilation, reduced capacity for rehabilitation and long‐term psychological sequelae. This study aimed to describe the experiences of pain management from healthcare professionals working in intensive care units. Healthcare professionals were recruited from intensive care units in London, UK using a purposive sampling technique. Semi‐structured interviews were transcribed verbatim. Transcripts were analysed using an inductive thematic analysis technique. Thirty participants were recruited from eight diverse intensive care units. Five themes were identified. First, there was a lack of consensus in pain assessment in the ICU where nursing staff described more knowledge and confidence of validated pain measures than physicians, and concerns over validity and usability were raised. Second, there was a universal perception of resource availability impacting the quality of pain management including high clinical workload, staff turnover and availability of certain pain management techniques. Third, acknowledgement of the importance of pain management was highest in those with experience of interacting with critical care survivors. Fourth, participants described their own emotional reaction to managing those in pain which influenced their learning. Finally, there was a perception that, due to the complexity of the intensive care unit population, pain was de‐prioritised and there were conflicting views as to whether standardised analgosedation algorithms were useful. This study provides evidence to suggest interdisciplinary training, collaboratively designed decision‐making tools, prioritisation initiatives and research priorities are areas that could be targeted to improve pain management in critical care.