bluuebunny/crossref_metadata_2025_split huggingface dataset:
Oxidative phosphorylation pathway disruption is an alternative pathological mechanism leading to Diamond-Blackfan anemia
Authors: Xiao Rudan , Zhang Lijuan , Xin Zijuan , Zhu Junwei , Zhang Qian , Chu Siyun , Wu Jing , Zhang Lu , Wan Yang , Chen Xiaojuan , Yuan Weiping , Zhang Zhaojun , Zhu Xiaofan , Fang Xiangdong 
Published: March 2022

AbstractDiamond-Blackfan anemia (DBA) is a rare congenital disorder characterized by the failure of erythroid progenitor differentiation; however, the molecular mechanisms leading to erythroid defects remain unclear. By analyzing the transcriptomic profiles of bone marrow from patients with DBA (n = 10), we identified the dysfunction of the oxidative phosphorylation (OXPHOS) pathway as a possible cause of DBA. We established a DBA cell model using differentiating hematopoietic stem progenitor cells in which the OXPHOS pathway was suppressed to completely recapitulate the defects in erythroid progenitor differentiation, ribosome biogenesis, and heme biosynthesis, which are representative characteristics of patients with DBA. Disruption of the OXPHOS pathway led to ribosomal defects and associated erythroid defects via abolishment of the Ran GTPase activating protein RanGAP1, which is pivotal in the RNA transport pathway. The composition of the ribosomal proteins in the established DBA cells was unchanged, but an overall reduction in ribosomal protein levels was observed, leading to an alteration in the translation of a subset of transcripts specific to erythropoiesis. We revealed that the OXPHOS pathway participates in erythropoiesis, particularly at an early stage, and reinforced the relationship between the OXPHOS pathway and erythropoiesis. Coenzyme Q10, an activator of OXPHOS, largely rescued the erythroid defects in DBA cells. Our results reveal that OXPHOS repression is an alternative pathological mechanism leading to DBA, demonstrating its potential as a therapeutic pathway.Key PointsOxidative phosphorylation (OXPHOS) pathway disruption is an alternative pathological mechanism underlying Diamond-Blackfan anemia (DBA).Suppression of OXPHOS leads to defects in erythropoiesis and ribosomal biogenesis via the RanGAP1 protein.
The Regulatory Mendelian Mutation score for GRCh38
Authors: Nazaretyan Lusiné , Kircher Martin , Schubach Max 
Published: March 2022

ABSTRACTMotivationVarious genome sequencing efforts for individuals with rare Mendelian disease have increased the research focus on the non-coding genome and the clinical need for methods that prioritize potentially disease causal non-coding variants. Some methods and annotations are not available for the current human genome build (GRCh38), for which the adoption in databases, software and pipelines was slow.ResultsHere, we present an updated version of the Regulatory Mendelian Mutation (ReMM) score, re-trained on features and variants derived from the GRCh38 genome build. Like its GRCh37 version, it achieves good performance on its highly imbalanced data. To improve accessibility and provide users with a toolbox to score their variant files and lookup scores in the genome, we developed a website and API for easy score lookup.Availability and ImplementationPre-scored whole genome files of GRCh37 and GRCh38 genome builds are available on Zenodo https://doi.org/10.5281/zenodo.6576087. The website and API are available at https://remm.bihealth.org.
Interferon-induced lysosomal membrane permeabilization and death cause cDC1-deserts in tumors
Authors: Aerakis E. , Chatzigeorgiou A. , Alvanou M. , Matthaiakaki-Panagiotaki M. , Angelidis I. , Koumadorakis D. , Galaras A. , Hatzis P. , Kerdidani D. , Makridakis M. , Vlachou A. , Malissen B. , Henri S. , Merad M. , Tsoumakidou M. 
Published: March 2022

ABSTRACTT cell immunity requires antigen capture by conventional dendritic cells (cDCs), digestion and transfer to draining lymph nodes for presentation to antigen-inexperienced T cells. cDCs type I excel as cancer-antigen presenting cells, due to their ability to phagocytose, slowly digest apoptotic cancer cells and translocate cancer antigens to the cytosol for loading to MHCI and cross-presentation to CD8 T cells1–3. In tumor tissues cDCs1 become particularly scarce and this restricts anti-tumour immunity, immunotherapy responses and patient survival4–8. Tumor cDC1 paucity is not fully understood and no specific treatment currently exists. Here, we find that type I interferons (IFN) induce lysosomal stress, lysosomal membrane permeabilization (LMP) and lysosomal-dependent cell death (LDCD) in cDCs1. Two parallel pathways downstream of IFNAR1 converged to induce cDC1 LDCD. Up-regulation of expression of lysosomal genes enhanced the proteolytic activity of lysosomes, while IFN-inducible guanylate binding protein-2 (GBP-2) accumulated in the membrane of the stressed lysosomes, leading to LMP, proteolytic enzyme release and death. Protease inhibition or GBP-2 repression rescued cDCs1 from LDCD and boosted their anti-tumor efficacy. GBPs are amongst the most abundant IFN-induced genes and known to form toxic pores in pathogen-containing vacuoles and pathogen membranes9. GBP-2-driven LMP is likely due to the ability of GBP-2 to form pores on the lysosomes of cDC1s. This might have evolved as a physiological mechanism of antigen translocation to the cytosol for cross-presentation10. We anticipate our findings to be a starting point for more rational cDC1-directed immunotherapies. For instance, protease inhibition, GBP-2 downregulation or induced expression of LMP repair machinery may boost cDC1 efficacy in adoptive cell therapies or their use as live vaccines11–13.
Neutrophils initiate the destruction of the olfactory epithelium during SARS-CoV-2 infection in hamsters
Authors: Clara Bourgon , Audrey St Albin , Ophélie Ando-Grard , Bruno Da Costa , Roxane Domain , Brice Korkmaz , Bernard Klonjkowski , Sophie Le Poder , Nicolas Meunier 
Published: March 2022

AbstractThe loss of smell related to SARS-CoV-2 infection is one of the most prevalent symptoms of COVID-19. It is now clear that this symptom is related to the massive infection by SARS-CoV-2 of the olfactory epithelium leading to its desquamation. However, the molecular mechanism behind the destabilization of the olfactory epithelium is less clear. Using golden Syrian hamster, we show here that while apoptosis remains at a low level in damaged infected epithelium, the latter is invaded by innate immunity cells. By depleting the neutrophil population or blocking the activity of neutrophil elastase-like proteinases, we reduced the damage induced by the SARS-CoV-2 infection. Surprisingly, the impairment of neutrophil activity led to a decrease of SARS-CoV-2 infection levels in the nasal cavity. Our results indicate a counterproductive role of neutrophils leading to the release of infected cells in the lumen of the nasal cavity and thereby enhanced spreading of the virus.
Pulmonary lesions following inoculation with the SARS-CoV-2 Omicron BA.1 (B.1.1.529) variant in Syrian golden hamsters
Authors: Rissmann Melanie , Noack Danny , van Riel Debby , Schmitz Katharina S. , de Vries Rory D. , van Run Peter , Lamers Mart M. , GeurtsvanKessel Corine H. , Koopmans Marion P. G. , Fouchier Ron A. M. , Kuiken Thijs , Haagmans Bart L. , Rockx Barry 
Published: March 2022

AbstractThe Omicron BA.1 (B.1.1.529) SARS-CoV-2 variant is characterized by a high number of mutations in the viral genome, associated with immune-escape and increased viral spread. It remains unclear whether milder COVID-19 disease progression observed after infection with Omicron BA.1 in humans is due to reduced pathogenicity of the virus or due to pre-existing immunity from vaccination or previous infection. Here, we inoculated hamsters with Omicron BA.1 to evaluate pathogenicity and kinetics of viral shedding, compared to Delta (B.1.617.2) and to animals re-challenged with Omicron BA.1 after previous SARS-CoV-2 614G infection. Omicron BA.1 infected animals showed reduced clinical signs, pathological changes, and viral shedding, compared to Delta-infected animals, but still showed gross- and histopathological evidence of pneumonia. Pre-existing immunity reduced viral shedding and protected against pneumonia. Our data indicate that the observed decrease of disease severity is in part due to intrinsic properties of the Omicron BA.1 variant.
Investigation of crystal structures, energetics and isostructurality in halogen-substituted phosphoramidates
Authors: Hasija Avantika , Som Shubham , Chopra Deepak 
Published: March 2022

A total of 14 compounds, one unsubstituted and 13 halogen-substituted phosphoramidates, have been synthesized from unsubstituted and halogenated (fluoro-, difluoro-, chloro-, bromo-, iodo-substituted) aniline and diphenyl phosphoryl chloride to investigate their molecular assembly in solid-state structures. Amongst them, six groups were formed based on similarities in unit-cell dimensions, space group and molecular assembly of the crystal. The analysis reveals that all the crystal structures contain robust N—H...O hydrogen bonds which are the primary building blocks with ancillary interactions such as C—H...O, C—H...π, C—H...F/Cl/Br/I, F...F, F...π, I...π, Br...π, I...O and Br...O. The role of short and directional C—H...O and C—H...π interactions providing significant stabilization to the densely packed crystalline arrangement is discussed. The contribution of these interactions in stabilizing the crystalline assembly was deduced via computing total interaction energy between dimers and the overall lattice energies using the computer programs Crystal Explorer 17.5 and PIXELC, respectively. Additionally, the occurrence of 3D isostructurality in phosphoradimates and their halogenated analogs was investigated using the XPac program. A comparison of the magnitudes of the torsion angles in the compounds substantiates the role of conformational flexibility in the solid state.
The development of a digitally enhanced visual inspection framework for masonry bridges in the UK
Authors: Talebi Saeed , Wu Song , Al-Adhami Mustafa , Shelbourn Mark , Serugga Joas 
Published: March 2022

Purpose
The utilisation of emerging technologies for the inspection of bridges has remarkably increased. In particular, non-destructive testing (NDT) technologies are deemed a potential alternative for costly, labour-intensive, subjective and unsafe conventional bridge inspection regimes. This paper aims to develop a framework to overcome conventional inspection regimes' limitations by deploying multiple NDT technologies to carry out digital visual inspections of masonry railway bridges.

Design/methodology/approach
This research adopts an exploratory case study approach, and the empirical data is collected through exploratory workshops, interviews and document reviews. The framework is implemented and refined in five masonry bridges as part of the UK railway infrastructure. Four NDT technologies, namely, terrestrial laser scanner, infrared thermography, 360-degree imaging and unmanned aerial vehicles, are used in this study.

Findings
A digitally enhanced visual inspection framework is developed by using complementary optical methods. Compared to the conventional inspection regimes, the new approach requires fewer subjective interpretations due to the additional qualitative and quantitative analysis. Also, it is safer and needs fewer operators on site, as the actual inspection can be carried out remotely.

Originality/value
This research is a step towards digitalising the inspection of bridges, and it is of particular interest to transport agencies and bridge inspectors and can potentially result in revolutionising the bridge inspection regimes and guidelines.
The effect of XBRL adoption on corporate tax avoidance: empirical evidence from an emerging country
Authors: Saragih Arfah Habib , Ali Syaiful 
Published: March 2022

Purpose
This paper aims to study the impact of the adoption of eXtensible Business Reporting Language (XBRL) on corporate tax avoidance.

Design/methodology/approach
This paper used a quantitative method with panel data regression models using a sample of firms listed on the Indonesia Stock Exchange from 2011 to 2018.

Findings
The regression results demonstrate that XBRL implementation does not have any impact on corporate tax avoidance. The results indicate that tax avoidance is not reduced following XBRL adoption. This report shows unexpected and unfavourable outcomes of XBRL financial reporting in a developing country.

Research limitations/implications
This study employs a sample of firms from one emerging country only.

Practical implications
The study proposes several implications for using XBRL in tax reporting, which may help the tax authorities reduce tax avoidance. Regulators need to develop adequate taxonomies with standardized extensions related to tax information in the XBRL format. They include tax tags from financial statements and tax tags from the disclosure section, to gain more comprehensive corporate tax information.

Originality/value
This study proposes and tests an explanation for the effect of XBRL adoption on corporate tax avoidance in the context of a developing country.
The effect of corporate lobbying on fraud and money laundering
Authors: Salehi Mahdi , Norouzi Fatemeh 
Published: March 2022

Purpose
This study aims to assess the effect of corporate lobbying power on fraud and money laundering in listed firms on the Tehran Stock Exchange. For the study, the information of 173 firms is assessed during 2013–2020, and a total number of 1,384 year-companies are analysed.

Design/methodology/approach
In this paper, the Beneish model is used for fraud detection, and the clause of the auditor’s report on money laundering is used for the variable of money laundering. The multivariate regression, Logistic regression, the fixed effects of panel data, additional random effects tests, Hausman, least generalised squares and T + 1 are used by using the Stata Software.

Findings
The obtained results indicate a direct and significant relationship between lobbying and fraud and lobbying and money laundering. Suppose the board members of firms are among the parliament members or the government cabinet (politicians) and/or major shareholders affiliated with state-owned and/or quasi-governmental institutions. In that case, the likelihood of corporate lobbying will be increased.

Originality/value
The outcomes of the current study give great insight to developing countries due to the high volume of money laundering to reduce such a financial crime.
Navigating the emergence of brand meaning in service ecosystems
Authors: Baker Jonathan J. , Fehrer Julia A. , Brodie Roderick J. 
Published: March 2022

PurposeThe purpose of this paper is to clarify how brand meaning evolves as an emergent property through the cocreation processes of stakeholders on multiple levels of a brand's service ecosystem. This provides new insight into the intersection between brands, consumers and society, and emphasizes the institutionally situated nature of brand meaning cocreation processes. It further lays a holistic foundation for a much-needed discussion on purpose-driven branding.Design/methodology/approachCombining the ecosystem perspective of branding with the concept of social emergence allows clarification of brand meaning cocreation at different levels of aggregation. Emergence means collective phenomena – like social structures, concepts, preferences, states, mechanisms, laws and brand meaning – manifest from the interactions of individuals. Drawing on Sawyer's (2005) social emergence perspective, the authors propose a processual multi-level framework to explore brand meaning emergence.FindingsOur framework spans five levels of brand meaning emergence: individual (e.g. employees and customers); interactional (e.g. where work teams or friend groups interact); relational (e.g. where internal and external actors meet); strategic (e.g. markets and strategic alliances); and systemic (e.g. regulators, NGOs and society). It acknowledges that brand positioning is an inherently co-creative process of negotiating value propositions and aligning behaviors and beliefs among broad sets of actors, as opposed to a firm-centric task.Originality/valueService research has only recently embraced a macro–micro perspective of branding processes. This paper extends that perspective by paying attention to the nested service ecosystems in which brand meaning emerges and the degree to which this process can (and cannot) be navigated by individual actors.
Is social media marketing worth it for luxury brands? The dual impact of brand page satisfaction and brand love on word-of-mouth and attitudinal loyalty intentions
Authors: Song Sanga , Kim Hye-Young 
Published: March 2022

Purpose
This study aims to investigate the relationships between customer perceptions of luxury companies’ brand pages (i.e. brand page value and self-expressive brands) and customers’ affective (i.e. brand page satisfaction and brand love) and behavioral (i.e. word-of-mouth [WOM] and attitudinal loyalty intentions) responses.

Design/methodology/approach
Structural equation modeling was used to analyze the data of 290 social media users in the USA who followed at least one luxury brand on social media.

Findings
The results demonstrated that consumers’ brand page satisfaction, influenced by the brand page’s information and entertainment value, was related to brand love and WOM intentions. Meanwhile, brand love – defined as emotional devotion to a brand – was influenced by self-expressive brands and was positively related to both WOM and attitudinal loyalty intentions.

Originality/value
This study identifies a set of customer perceptions that drive consumers’ affective and behavioral responses and that can be used to guide luxury brands to best use their brand pages on social media. By developing and testing a dual-impact model consisting of brand page satisfaction and brand love, this study provides practical directions for luxury brand managers and marketers who wish to transform their followers into both brand advocates who elevate the brand through WOM communications and loyal customers who are committed to affiliating with and supporting the brand.
Revitalising the enterprise university post-COVID 19: a focus on business schools
Authors: O'Connell Brendan , Tharapos Meredith , De Lange Paul , Beatson Nicola 
Published: March 2022

Purpose
The purpose of this study is to provide a polemic on the evolution of universities and business schools over the past two decades. During this period, universities have increasingly adopted a self-interested stance using business-like practices and behaviours to justify their transformation. The authors provide recommendations aimed at enhancing universities’ contributions and relevance to society, increasing their sustainability broadly defined and better positioning them to help solve wicked problems in a post-COVID-19 world.

Design/methodology/approach
This polemic analyses prior literature relating to the evolution of universities and uses this to generate a framework for ways forward for their improvement.

Findings
The authors argue that the evolution of universities into entities with missions and operations designed to mimic business and commercial imperatives has yielded undesirable outcomes including the muddling of the core mission of universities, alienation of key stakeholders and an excessive focus on income growth. Business schools face a tension between forging their own, unique identities and simultaneously striving to meet university university objectives. We term this “the Business School identity paradox”. The authors contend that the way forward requires senior management to re-discover the essence of what it means to be a university, re-establish collegial decision-making within universities that includes built-in feedback loops and a fundamental emphasis on developing graduates with an enlightened perspective that goes beyond technical skills.

Originality/value
This paper is novel in that it analyses the evolution of the “Enterprise University” some 20 years after this term was first coined and in a radically changed environment following the COVID-19 pandemic. This analysis is also forward-looking as the authors re-imagine universities and business schools by identifying opportunities for renewal and improvement in their focus and societal impact. The authors also develop a schema that identifies major influences on universities and business schools, the impact of COVID-19 and strategies for them post-COVID-19.
Development and characterization of biodegradable film from marine red seaweed (Kappaphycus alvarezii)
Authors: Rajasekar Veeramani , Karthickumar Paramasivan , Rose Ashokkumar Hozen Richhie , Manimmehalai Nagarajan , Subhasri Dharmaraj 
Published: March 2022

Purpose
The purpose of this study was carried out to explore the potential use of carrageenan extracted from marine red seaweed (Kappaphycus alvarezii) collected from Munaikadu, Mandapam region, Ramanathapuram district, Tamil Nadu.

Design/methodology/approach
Biodegradable film was developed by using carrageenan extracted by using alcohol extraction method. To improve the mechanical properties of the film, rice starch was incorporated. The biodegradable films were made by phase inversion method with varied carrageenan concentration of 1%, 1.5% and 2% (w/v) and rice starch with concentration of 0%, 1%, 1.5% and 2% (w/v). Physical properties, optical properties, mechanical properties and other properties such as biodegradability, solubility and water vapor permeability of the developed biodegradable films were characterized. The results were analyzed in design expert software using Box–Behnken design.

Findings
Results show that the biodegradable film’s mechanical and water vapor permeability increases with an increase in carrageenan and rice starch concentration. The optimized film structure was obtained with carrageenan and rice starch composition of 1.5% and 2%, respectively.

Originality/value
The results shown a broad spectrum of commercial applications and future rice starch possibilities incorporated in the carrageenan-based biodegradable film.
Performance analysis of shell and helical tube heat exchanger using CuO/water and Al2O3/water nanofluids
Authors: Soni Palash , Verma Fanindra Kumar , Ranjan Ranjeet , Gaba Vivek Kumar 
Published: March 2022

Purpose
A computational fluid dynamics based parametric analysis for shell and helical tube heat exchanger (SHTHE) using CuO/water and Al2O3/water nanofluids is the main purpose of the present work. The parameters having impact on the performance of a heat exchanger have been studied in depth. As the solid nanoparticle shows higher thermal conductivity compared to liquid particles, inclusion of this nanoparticle into the base fluid significantly enhances the thermal conductivity of the liquid. Incorporation of nanofluid in the heat exchanger can increase its performance.

Design/methodology/approach
The simulation is performed in Solid-Works flow simulation, and the performance of SHTHE is observed by varying the pitch of helical tube from 0.013 to 0.018 m and coil diameter from 0.0813 to 0.116 m, keeping the other parameters constant. The tube side and shell side flow rate is kept as 2 LPM.

Findings
The results indicate that the effectiveness of the heat exchanger increases with the increase of pitch and coil diameter. The maximum effectiveness of 0.5022 for CuO/water and 0.4928 for Al2O3/water nanofluid is observed at a pitch of 0.018 m and the coil diameter of 0.116 m.

Originality/value
It is observed that CuO/water nanofluid shows better performance compared with Al2O3/water nanofluid. For a coil diameter of 0.116 m and pitch of 0.018 m, the SHTHE with CuO/water nanofluid shows 1.82% greater effectiveness compared to the effectiveness with Al2O3/water nanofluid.