bluuebunny/crossref_metadata_2025_split huggingface dataset:
Aberrant N-glycosylation is a therapeutic target in carriers of a common and highly pleiotropic mutation in the manganese transporter ZIP8
Authors: Tomar Vartika , Kang John , Lin Ruxian , Brant Steven R. , Lazarev Mark , Tressler Caitlin , Glunde Kristine , Zachara Natasha , Melia Joanna 
Published: July 2024

AbstractThe treatment of defective glycosylation in clinical practice has been limited to patients with rare and severe phenotypes associated with congenital disorders of glycosylation (CDG). Carried by approximately 5% of the human population, the discovery of the highly pleiotropic, missense mutation in a manganese transporter ZIP8 has exposed under-appreciated roles for Mn homeostasis and aberrant Mn-dependent glycosyltransferases activity leading to defective N-glycosylation in complex human diseases. Here, we test the hypothesis that aberrant N-glycosylation contributes to disease pathogenesis of ZIP8 A391T-associated Crohn’s disease. Analysis of N-glycan branching in intestinal biopsies demonstrates perturbation in active Crohn’s disease and a genotype-dependent effect characterized by increased truncated N-glycans. A mouse model of ZIP8 391-Thr recapitulates the intestinal glycophenotype of patients carrying mutations in ZIP8. Borrowing from therapeutic strategies employed in the treatment of patients with CDGs, oral monosaccharide therapy with N-acetylglucosamine ameliorates the epithelial N-glycan defect, bile acid dyshomeostasis, intestinal permeability, and susceptibility to chemical-induced colitis in a mouse model of ZIP8 391-Thr. Together, these data support ZIP8 391-Thr alters N-glycosylation to contribute to disease pathogenesis, challenging the clinical paradigm that CDGs are limited to patients with rare diseases. Critically, the defect in glycosylation can be targeted with monosaccharide supplementation, providing an opportunity for genotype-driven, personalized medicine.
A NATUrally Randomized trial Evaluating a vaccine-like strategy to lower LDL by inhibiting PCSK9 on the lifetime risk of major cardiovascular events (NATURE-PCSK9)
Authors: Ference Brian A , Ference Thatcher B. , Catapano Alberico L , Nicholls Stephen J. , Ray Kausik K 
Published: July 2024

ABSTRACTBackgroundMaintaining low levels of low-density lipoproteins (LDL) over time has the potential to substantially reduce the lifetime risk of atherosclerotic cardiovascular disease. However, the optimal timing of lowering LDL to prevent atherosclerotic cardiovascular events is unknown.MethodsWe combined evidence from Mendelian randomization studies and randomized trials to develop a causal AI algorithm to estimate the benefit of lowering LDL on the risk of major cardiovascular events (MCVE) in discrete time-units of exposure. We tested the accuracy of this algorithm among 440,371 participants randomized by nature to a partial loss-of-function (LOF) variant in the PCSK9 gene, and 46,488 participants in two large randomized trials of PCSK9 inhibitors. We then used this algorithm to estimate the benefit of lowering LDL using a once-yearly dose of an siRNA directed against PCSK9 beginning at different ages among 2.3 million men and women.ResultsThe causal AI algorithm accurately estimated the benefit of lifelong lower LDL due to partial loss-of-function of the PCSK9 gene, and the benefit of lowering LDL with a PCSK9 inhibitor starting at a mean age of 61 years, with nearly superimposable observed and predicted event curves. Lowering LDL by 36% was estimated to reduce the lifetime risk of MCVE by 57% (HR: 0.43, 95%CI: 0.39-0.47) if started at age 30, by 48% (HR: 0.52, 95%CI: 0.50-0.54) if started at age 40, by 38% (HR: 0.62, 95%CI: 0.60-0.65) if started at age 50, and by 26% (HR: 0.74, 95%CI: 0.71-0.77) if started at age 60 years. Moderate LDL lowering starting at age 40 years was estimated to have a greater benefit than more aggressively LDL lowering beginning at age 55 years, with a lower residual risk at all ages. In addition, the benefit of earlier LDL lowering persisted throughout life leading to a quantifiable legacy benefit.ConclusionsThe benefit of lowering LDL is determined by the magnitude, duration, and timing of LDL lowering. Modest sustained LDL lowering beginning in early to middle adulthood, which can be achieved with a once-yearly dose of a PCSK9 siRNA, may be the optimal strategy to prevent atherosclerotic cardiovascular events by slowing the progression of atherosclerosis.
Estimating allele frequencies, ancestry proportions and genotype likelihoods in the presence of mapping bias
Authors: Günther Torsten , Goldberg Amy , Schraiber Joshua G. 
Published: July 2024

AbstractPopulation genomic analyses rely on an accurate and unbiased characterization of the genetic composition of the studied population. For short-read, high-throughput sequencing data, mapping sequencing reads to a linear reference genome can bias population genetic inference due to mismatches in reads carrying non-reference alleles. In this study, we investigate the impact of mapping bias on allele frequency estimates from pseudohaploid data, commonly used in ultra-low coverage ancient DNA sequencing. To mitigate mapping bias, we propose an empirical adjustment to genotype likelihoods. Using data from the 1000 Genomes Project, we find that our new method improves allele frequency estimation. To test a downstream application, we simulate ancient DNA data with realistic post-mortem damage to compare widely used methods for estimating ancestry proportions under different scenarios, including reference genome selection, population divergence, and sequencing depth. Our findings reveal that mapping bias can lead to differences in estimated admixture proportion of up to 4% depending on the reference population. However, the choice of method has a much stronger impact, with some methods showing differences of 10%.qpAdmappears to perform best at estimating simulated ancestry proportions, but it is sensitive to mapping bias and its applicability may vary across species due to its requirement for additional populations beyond the sources and target population. Our adjusted genotype likelihood approach largely mitigates the effect of mapping bias on genome-wide ancestry estimates from genotype likelihood-based tools. However, it cannot account for the bias introduced by the method itself or the noise in individual site allele frequency estimates due to low sequencing depth. Overall, our study provides valuable insights for obtaining more precise estimates of allele frequencies and ancestry proportions in empirical studies.
Accelerating analysis of Boltzmann equations using Gaussian mixture models: Application to quantum Bose-Fermi mixtures
Authors: Dolgirev Pavel E. , Seetharam Kushal , Kanász-Nagy Márton , Robens Carsten , Yan Zoe Z. , Zwierlein Martin , Demler Eugene 
Published: July 2024

The Boltzmann equation is a powerful theoretical tool for modeling the collective dynamics of quantum many-body systems subject to external perturbations. Analysis of the equation gives access to linear response properties including collective modes and transport coefficients, but often proves intractable due to computational costs associated with multidimensional integrals describing collision processes. Here, we present a method to resolve this bottleneck, enabling the study of a broad class of many-body systems that appear in fundamental science contexts and technological applications. Specifically, we demonstrate that a Gaussian mixture model can accurately represent equilibrium distribution functions, thereby allowing efficient evaluation of collision integrals. Inspired by cold atom experiments, we apply this method to investigate the collective behavior of a quantum Bose-Fermi mixture of cold atoms in a cigar-shaped trap, a system that is particularly challenging to analyze. We focus on monopole and quadrupole collective modes above the Bose-Einstein transition temperature, and find a rich phenomenology that spans interference effects between bosonic and fermionic collective modes, dampening of these modes, and the emergence of hydrodynamics in various parameter regimes. These effects are readily verifiable experimentally.

Published by the American Physical Society
2024
Workplace small talk and task performance: the chain mediation role of relational energy and positive affect
Authors: Chen Yuling , Shao Jingzhi , Chen Charles Weizheng , Wan Fang 
Published: July 2024

Purpose
Small talk, often regarded as a superficial interaction unrelated to work, is a pervasive and inescapable aspect of daily life and professional settings. In China, where the notion of guanxi – the cultivation of strategic relationships – is deeply valued, workplace small talk (WST) is a strategic tool used by employees to strengthen their interpersonal networks. This study aims to investigate the positive impact of WST on task performance within the Chinese workplace and explores the mechanisms underpinning this relationship.

Design/methodology/approach
This study adopted a time-lagged research design to test its hypotheses using data from 516 employees across various Chinese firms.

Findings
This study revealed that WST exerts both direct and indirect positive effects on task performance. It boosts task performance indirectly via two mediators: relational energy and positive affect. This study also delineated a chain mediation model wherein WST sequentially elevates task performance by first enhancing relational energy and then fostering positive affect.

Originality/value
Counter to the prevailing focus on the negative repercussions of WST, this study sheds light on its beneficial outcomes, proposing novel pathways connecting WST to task performance. These insights contribute to both academic discourse and the development of practical management strategies.
Brexit and the fintech revolution in Europe: lessons from the Bulgarian digital finance sector
Authors: Radev Deyan , Penev Georgi 
Published: July 2024

Purpose
This paper aims to investigate the drivers of the resilience of the fintech sector in emerging Europe (EU) by analyzing the performance of 128 Bulgarian fintech companies in the period around the Referendum for Brexit in 2016. The Referendum was followed by a rapid growth of the Bulgarian fintech sector at a moment when venture capital funding was limited, which challenged firms to improve their fundamentals.

Design/methodology/approach
This empirical paper uses descriptive and panel data analysis based on the firm balance sheet and income statement data at the annual level.

Findings
The results show that larger and better-capitalized firms, which outsource their non-core activities and focus on their main competitive strengths, tend to have higher operating income and profit. The authors also find positive real-economy effects as these companies hire more actively to maintain growth. The results are primarily driven by the post-Brexit period of 2016–2019 when the authors find a tighter link between performance and firm fundamentals. These results have important managerial and policy implications and provide interesting directions for future research.

Practical implications
The findings have important management and policy implications. The authors argue that the flexibility of the Bulgarian fintech cluster, including the practice of Bulgarian fintech startups to outsource non-core activities; the readiness of universities to open new master programs to address firm demand for skilled labor and the startup-friendly environment in the main cluster hotspot, Sofia, has contributed to the resilience of the sector and can explain the drivers behind our findings. Fintech firms are very efficient in utilizing external services to foster their performance and growth, which may suggest that public policies that provide financial support for cloud services and outsourcing for startups during downturns or crises may improve economic growth and may have positive externalities for the supporting sectors that provide these services.

Originality/value
This paper fulfills an identified need to study the drivers of Fintech performance to identify best practices for managerial actions during economic or political crises, as well as government policy recommendations. To the best of the authors knowledge, this is one of the first empirical academic studies that examine the impact of Brexit on the European Fintech sector and real economy. The identified managerial strategies for ensuring regional resilience to economic crises and political shocks can be applied in various settings within and outside the EU.
Awareness marketing: cause-related marketing without direct contribution
Authors: Minton Elizabeth A. , Cabano Frank Gregory 
Published: July 2024

Purpose
Prior research has investigated the benefit of companies that engage in cause-related marketing initiatives. However, this prior research has not adequately examined cause-related marketing situations when brands raise awareness for a cause without contribution of tangible resources to the cause (i.e. awareness marketing); thus, the purpose of this paper is to introduce and test awareness marketing as a new type of cause-related marketing.

Design/methodology/approach
Through four experimental studies with different sample sources, the authors introduce and examine a new type of cause-related marketing (awareness marketing) as well as identify mediating explanatory mechanisms.

Findings
Awareness marketing produces similarly heightened purchase intentions to other types of cause-related marketing (e.g. financial donation) when compared to situations where cause-related marketing is not used. Awareness marketing can also lead to higher brand authenticity and brand originality perceptions in some situations when compared to cause-related marketing incorporating a financial donation component or when no cause-related marketing is used. Brand perceptions and consumers’ perceived self-brand connection mediate the relationship from cause-related marketing to purchase intentions.

Research limitations/implications
This research is limited by conducting studies in only experimental conditions and in one culture. Theoretical implications are provided to the literature on brand authenticity and self-brand connection. In doing so, the authors explain why awareness marketing is evaluated differently than other types of cause-related marketing or marketing without any cause reference.

Practical implications
Marketers would benefit from using awareness marketing (i.e. raising awareness for a cause without direct contribution to the cause) as a lower investment alternative to traditional cause-related marketing efforts.

Originality/value
To the best of the authors’ knowledge, this is the first research to introduce awareness marketing as a new type of cause-related marketing and compare it to traditional types of cause-related marketing, thereby providing novel contributions as to how cause-related marketing can effectively increase purchase intentions without making a financial, product or other tangible contribution to a cause.
Lean thinking and risk management in healthcare organizations: a systematic literature review and research agenda
Authors: Mendes Luis , França Grazielle 
Published: July 2024

PurposeHealthcare organizations have been facing challenges due to high costs and low efficiency in health services. The growth of costs and losses caused by avoidable mistakes lead to the search for solutions, and Health Lean Management appears as a potential solution to help in solving service quality problems, as well as reducing risks. This study aims to analyse the state of the art in the literature centred on the Lean approach in the context of risk management in healthcare organizations, and to identify new research opportunities, highlighting possible lines of future research.Design/methodology/approachFollowing a systematic literature review approach, 51 papers were considered relevant for this research, and reviewed to explore the development of literature in this area.FindingsBased on the results, five main research streams were identified: (1) risk management oriented towards patient safety; (2) risk management oriented towards employee safety; (3) importance of attitudes and behaviours in risk reduction projects; (4) Lean tools used in healthcare risk management and (5) Integration of approaches. Moreover, several shortcomings were identified in literature.Originality/valueIdentified shortcomings represent significant opportunities for further research development.
Navigating academic and everyday life challenges in the US: the role of social media for international graduate students
Authors: He Dan 
Published: July 2024

Purpose
This paper aims to explore the adaptive experiences of first-year international graduate students at a US university. It aims to understand the challenges they encounter, strategies they adopt with social media to navigate these challenges and tensions that emerge in their social media interactions.

Design/methodology/approach
This study uses a qualitative multiple-case research design to collect data from 22 semistructured interviews with 11 participants. Additionally, 110 social media artifacts were collected, focusing on international students’ use of social media in everyday and academic contexts.

Findings
This paper offers empirical insights into social media’s role in helping international students address practical challenges and fulfill learning needs in academic studies, assistantships, cultural understanding and the constructions of ethnic and peer groups for emotional and social support. Additionally, it identifies tensions such as addiction, distractions, emotional distress and the creation of filter bubbles.

Research limitations/implications
Given the qualitative approach of this paper, the generalizability of study findings is limited. Future studies can focus on different sites to explore context-related issues, students across different years or use a longitudinal research design to further explore international students’ experiences in relation to social media use and its role in their adaptation over time.

Practical implications
This paper proposes implementing social media curricula in universities to educate students on media literacy and digital competence and create peer groups to support international students beyond classrooms.

Originality/value
This paper adds value to informal learning literature focusing on international students.
Geopolitical risk and cash holdings: evidence from an emerging economy
Authors: Behera Manoja , Mahakud Jitendra 
Published: July 2024

Purpose
This study aims to examine the influence of geopolitical risk (GPR) on corporate cash holdings in an emerging market, India. It also investigates whether the effect of GPR on cash holdings varies across financially constrained and unconstrained firms, and across the different sectors.

Design/methodology/approach
This study uses the fixed-effect regression model to examine the effect of GPR on the corporate cash holdings of 2090 Indian firms from 2003 to 2021. To correct the potential endogeneity issue and ensure the robustness of the results, this study uses two-stage least squares regression, alternative cash holdings proxies, GPR measures and across the different periods (Global financial crisis and COVID-19).

Findings
The paper finds that GPR has a positive impact on the cash holdings of Indian firms. The authors also find that the positive relationship between GPR and cash holdings is consistent for financially constrained and unconstrained firms. Furthermore, the results also show that firms in the construction sector maintain higher cash reserves than other sectors.

Originality/value
To the best of the authors’ knowledge, this study is one of the first-ever studies which examines the effect of GPR on corporate cash holding for an emerging economy like India. The use of alternative measures of cash holding, GPR, and estimation methods make this study more robust.
A thematic review on the elements of facilities condition index (FCI) as facilities performance indicator
Authors: Raja Zilan Raja Nurul Waheeda , Che-Ani Adi Irfan , Abd Wahab Siti Rashidah Hanum 
Published: July 2024

PurposeThis paper aims to review the elements of facilities condition index (FCI) as one of the most widely used metrics for describing the physical condition of facilities and as a measure of financial indicator related to maintenance activity. This research will benefit future studies that focus on implementation of FCI and encourage the best practice when assessing the physical condition to evaluate the performance of facilities as well as to plan for maintenance action to be taken and financial implication involved based on the findings from FCI.Design/methodology/approachA total of 33 studies from 2012 to 2022 were identified and extracted from four academic databased, named Scopus, Google Scholar, Web of Science and Mendeley. These published studies were selected because it matches with the inclusion requirements for research question, “What are the elements of facilities condition index discussed in the literature from 2012 to 2022?”. To answer the research question, the studies in ATLAS.ti were grouped into five major themes based on the codes and categories found.FindingsThis paper presents the findings of a thematic analysis of the current literature discussed about FCI. A total of 33 studies from 2012 to 2022 were identified and extracted from four academic databased, named Scopus, Google Scholar, Web of Science and Mendeley. A themed review was conducted, and five themes were identified as elements of FCI, which are named as follows: “Condition Assessment”, “Deferred Maintenance”, “Facilities Performance”, “Financial and Fund Allocation” and “Decision Making”.Originality/valueThis paper fulfils the fundamental elements on current FCI practices as well as intended to highlight existing practices that are essential to evaluate facilities performance and planning for maintenance strategies.