bluuebunny/crossref_metadata_2025_split huggingface dataset:
Common genetic variants associated with urinary phthalate levels in children: a genome-wide study
Authors: Bustamante Mariona , Balagué Laura , Buko Zsanett , Sakhi Amrit Kaur , Casas Maribel , Maitre Lea , Andrusaityte Sandra , Grazuleviciene Regina , Gützkow Kristine B , Brantsæter Anne Lise , Heude Barbara , Philippat Claire , Chatzi Leda , Vafeiadi Marina , Yang Tiffany C , Wright John , Hough Amy , Ruiz-Arenas Carlos , Nurtdinov Ramil , Escaramís Geòrgia , Gonzalez Juan Ramon , Thomsen Cathrine , Vrijheid Martine 
Published: February 2024

AbstractIntroductionPhthalates, or dieters of phthalic acid, are a ubiquitous type of plasticizer used in a variety of common consumer and industrial products. They act as endocrine disruptors and are associated with increased risk for several diseases. Once in the body, phthalates are metabolized through partially known mechanisms, involving phase I and phase II enzymes.ObjectiveIn this study we aimed to identify common single nucleotide polymorphisms (SNPs) and copy number variants (CNVs) associated with the metabolism of phthalate compounds in children through genome-wide association studies (GWAS).MethodsThe study used data from 1,044 children with European ancestry from the Human Early Life Exposome (HELIX) cohort. Ten phthalate metabolites were assessed in a two-void urine pool collected at the mean age of 8 years. Six ratios between secondary and primary phthalate metabolites were calculated. Genome-wide genotyping was done with the Infinium Global Screening Array (GSA) and imputation with the Haplotype Reference Consortium (HRC) panel. PennCNV was used to estimate copy number variants (CNVs) and CNVRanger to identify consensus regions. GWAS of SNPs and CNVs were conducted using PLINK and SNPassoc, respectively. Subsequently, functional annotation of suggestive SNPs (p-value <1E-05) was done with the FUMA web-tool.ResultsWe identified four genome-wide significant (p-value <5E-08) loci at chromosome (chr) 3 (FECHP1for oxo-MiNP_oh-MiNP ratio), chr6 (SLC17A1for MECPP_MEHPP ratio), chr9 (RAPGEF1for MBzP), and chr10 (CYP2C9for MECPP_MEHPP ratio). Moreover, 113 additional loci were found at suggestive significance (p-value <1E-05). Two CNVs located at chr11 (MRGPRX1for oh-MiNP andSLC35F2for MEP) were also identified. Functional annotation pointed to genes involved in phase I and phase II detoxification, molecular transfer across membranes, and renal excretion.ConclusionThrough genome-wide screenings we identified known and novel loci implicated in phthalate metabolism in children. Genes annotated to these loci participate in detoxification and renal excretion.Graphical abstractHighlightsThe genetic variation involved in phthalate detoxification in humans is partially known.We identified four loci at genome-wide significance, and 113 at suggestive significance, some of them being novel.Two copy number variants were also identified.Functional annotation highlighted genes in phase I and II detoxification and renal excretion.
Disrupted mitochondrial response to nutrients is a presymptomatic event in the cortex of the APPSAAknock-in mouse model of Alzheimer’s disease
Authors: Norambuena Andrés , Sagar Vijay Kumar , Wang Zhuoying , Raut Prakash , Feng Ziang , Wallrabe Horst , Pardo Evelyn , Kim Taylor , Alam Shagufta Rehman , Hu Song , Periasamy Ammasi , Bloom George S. 
Published: February 2024

AbstractIntroductionReduced brain energy metabolism, mTOR dysregulation, and extracellular amyloid-β oligomer (xcAβO) buildup characterize AD; how they collectively promote neurodegeneration is poorly understood. We previously reported that xcAβOs inhibitNutrient-inducedMitochondrialActivity (NiMA) in cultured neurons. We now report NiMA disruptionin vivo.MethodsBrain energy metabolism and oxygen consumption were recorded in APPSAA/+mice using two-photon fluorescence lifetime imaging and multiparametric photoacoustic microscopy.ResultsNiMA is inhibited in APPSAA/+mice before other defects are detected in these amyloid-β-producing animals that do not overexpress APP or contain foreign DNA inserts into genomic DNA. GSK3β signals through mTORC1 to regulate NiMA independently of mitochondrial biogenesis. Inhibition of GSK3β with lithium or TWS119 stimulates NiMA in cultured human neurons, and mitochondrial activity and oxygen consumption in APPSAAmice.ConclusionNiMA disruptionin vivooccurs before histopathological changes and cognitive decline in APPSAAmice, and may represent an early stage in human AD.
Small RNAs positively and negatively control transcription elongation through modulation of Rho utilization site accessibility
Authors: Farley Kristen R. , Buechler Andrew K. , Bianco Colleen M. , Vanderpool Carin K. 
Published: February 2024

AbstractBacteria use a multi-layered regulatory strategy to precisely and rapidly tune gene expression in response to environmental cues. Small RNAs (sRNAs) form an important layer of gene expression control and most act post-transcriptionally to control translation and stability of mRNAs. We have shown that at least five different sRNAs inEscherichia coliregulate the cyclopropane fatty acid synthase (cfa) mRNA. These sRNAs bind at different sites in the long 5’ untranslated region (UTR) ofcfamRNA and previous work suggested that they modulate RNase E-dependent mRNA turnover. Recently, thecfa5’ UTR was identified as a site of Rho-dependent transcription termination, leading us to hypothesize that the sRNAs might also regulatecfatranscription elongation. In this study we find that a pyrimidine-rich region flanked by sRNA binding sites in thecfa5’ UTR is required for premature Rho-dependent termination. We discovered that both the activating sRNA RydC and repressing sRNA CpxQ regulatecfaprimarily by modulating Rho-dependent termination ofcfatranscription, with only a minor effect on RNase E-mediated turnover ofcfamRNA. A stem-loop structure in thecfa5’ UTR sequesters the pyrimidine-rich region required for Rho-dependent termination. CpxQ binding to the 5’ portion of the stem increases Rho-dependent termination whereas RydC binding downstream of the stem decreases termination. These results reveal the versatile mechanisms sRNAs use to regulate target gene expression at transcriptional and post-transcriptional levels and demonstrate that regulation by sRNAs in long UTRs can involve modulation of transcription elongation.ImportanceBacteria respond to stress by rapidly regulating gene expression. Regulation can occur through control of messenger RNA (mRNA) production (transcription elongation), stability of mRNAs, or translation of mRNAs. Bacteria can use small RNAs (sRNAs) to regulate gene expression at each of these steps, but we often do not understand how this works at a molecular level. In this study, we find that sRNAs inEscherichia coliregulate gene expression at the level of transcription elongation by promoting or inhibiting transcription termination by a protein called Rho. These results help us understand new molecular mechanisms of gene expression regulation in bacteria.
Sex Differences in the Brain’s White Matter Microstructure during Development assessed using Advanced Diffusion MRI Models
Authors: Benavidez Sebastian M. , Abaryan Zvart , Kim Gaon S. , Laltoo Emily , McCracken James T. , Thompson Paul M. , Lawrence Katherine E. 
Published: February 2024

AbstractTypical sex differences in white matter (WM) microstructure during development are incompletely understood. Here we evaluated sex differences in WM microstructure during typical brain development using a sample of neurotypical individuals across a wide developmental age (N=239, aged 5-22 years). We used the conventional diffusion-weighted MRI (dMRI) model, diffusion tensor imaging (DTI), and two advanced dMRI models, the tensor distribution function (TDF) and neurite orientation dispersion density imaging (NODDI) to assess WM microstructure. WM microstructure exhibited significant, regionally consistent sex differences across the brain during typical development. Additionally, the TDF model was most sensitive in detecting sex differences. These findings highlight the importance of considering sex in neurodevelopmental research and underscore the value of the advanced TDF model.
Are the sterile insect technique and the incompatible insect techniques effective in reducingAedesmosquito populations?
Authors: Olive Marie-Marie , Le Goff Gilbert , Baldet Thierry , Roiz David 
Published: February 2024

AbstractBackgroundThe control ofAedes aegyptiandAedes albopictusmosquitoes, the main vectors of dengue, chikungunya and Zika viruses, presents several challenges. The difficulties encountered in acquiring funding, implementing measures, obtaining community participation, acceptability and effectiveness, and the problem of insecticide resistance demonstrate the need to develop and optimise innovative vector control strategies. The sterile insect technique (SIT), the incompatible insect technique (IIT) and a combination of both (SIT-IIT) show promise. Numerous trials are being carried out worldwide to obtain evidence of their effectiveness before implementing them in large-scale, integrated vector-control strategies. The main objective of our study is to build an analytical framework for the identification and standardisation of appropriate entomological indicators that could be used to compare the relative effectiveness of the SIT, IIT and SIT-IIT methods in reducingAedesvector populations.MethodsWe reviewed the available scientific literature to compare the characteristics, methodologies, effectiveness indicators and results of various trials with the aim of standardising and comparing the indicators used in the trials, such as reductions in the egg hatch rate and in the adult populations.ResultsSeventeen trials, either published in peer-reviewed journals or posted as preprints, were selected. We found wide variation among them in experimental design, field implementation and the methods of calculating the indicators. Although limited by the amount of available published data, our results suggest that a reduction in egg hatching greater than 45% results in up to 60% fewer females, greater than 60% results in over 80% fewer females, and greater than 70% results in over 90% fewer females. Therefore, the quality of implementation, assessed on the basis of egg hatch reduction, is statistically associated with effectiveness, assessed on the basis of the reduction inAedesfemales.ConclusionWe present results suggesting that, when implemented effectively, the incompatible and sterile insect techniques are substantially effective in reducingAedesmosquito populations. Furthermore, these techniques are species specific, non-insecticidal and environmentally friendly. However, it has yet to be shown that they can be scaled up as cost-effective operational tools for vector control and that they substantially reduce arbovirus transmission.
Underestimation of SARS-CoV-2 in wastewater due to single or double mutations in the N1 qPCR probe binding region
Authors: Sun Jianxian , Yang Minqing Ivy , Peng Jiaxi , Khan Ismail , Lopez Jhoselyn Jaramillo , Chan Ronny , Edwards Elizabeth , Peng Hui 
Published: February 2024

AbstractWastewater surveillance using RT-qPCR has now been widely adopted to track circulating levels of SARS-CoV-2 virus in many sewer sheds. The CDC qPCR assays targeting two regions (N1 and N2) within the N gene are commonly used, but a discrepancy between the two biomarkers has been noticed by many groups using this method since late 2021. The reason is presumed to be due to mutations in regions targeted by the qPCR probe. In this study, we systematically investigated and unequivocally confirmed that the underlying reason for this discrepancy was mutations in the N1 probe target, and that a single mutation could cause a significant drop in signal. We first confirmed the proportion of related mutations in wastewater samples (Jan 2021-Dec 2022) using nested PCR and LC-MS. Based on relative proportion of N1 alleles, we separated the wastewater data into four time periods corresponding to different variant waves: Period I (Alpha and Delta waves with 0 mutation), Period II (BA.1/BA.2 wave with a single mutation found in all Omicron strains), Period III (BA. 5.2* wave with two mutations), and Period IV (BQ.1* wave with two mutations). Significantly lower N1 copies relative to N2 copies in samples from Periods II-IV compared to those from Period I was observed in wastewater. To further pinpoint the extent to which each mutation impacted N1 quantification, we compared the qPCR response among different synthetic oligomers with corresponding mutations. This study highlighted the impact of even just one or two mutations on qPCR-based wastewater surveillance of SARS-CoV-2.
Elevated Activity in Left Homologous Music Circuits is Maladaptive for Music Perception but Mediated by Decoupled Structure and Function
Authors: Wang Yucheng , Jin Zhishuai , Huyang Sizhu , Lian Qiaoping , Wu Daxing 
Published: February 2024

AbstractMusic is inherent in human life and is a significant topic of cognitive neuroscience. Previous studies focused on amusia suggested that two frontotemporal circuits engage in music processing. Structure-function coupling is an important feature of human brain, which is associated with cognition and allows for a more sensitive investigation of brain-behavior association. However, we still have limited knowledge about the relation between structure-function coupling, music processing and other regional neural profiles. We recruited 106 participants (43 subjects were diagnosed with congenital amusia) and measured their music perception by Montreal Battery of Evaluation of Amusia (MBEA). Then we utilized support vector regression algorithm and mediation analysis, and employed amplitude of low frequency fluctuation (ALFF), structural/functional degree centrality (DC) and structure-function coupling to explore their relation with global averaged MBEA score. We found structure-function coupling of widespread brain regions in both hemispheres, rather than ALFF or DC, contributed to predict MBEA score. Left middle frontal gyrus, bilateral inferior temporal gyrus and right insula were most predictive regions, and these regions were involved in memory and cognitive control according to meta-analysis. Further, coupling of left middle frontal gyrus, a region that is homologous to and is connected with typical music circuits, fully mediated the negative relation between ALFF and MBEA score. Our findings provide further understanding for the neural basis of music, and have implications for neural plasticity, neuromodulation therapy and cognitive causes of amusia.HighlightsOur study first applies structure-function coupling to investigate the neural correlates of music perception, and predicting modeling indicate structure-function coupling is more effective than regional activity and connectivity.Elevated activity of contralateral homologous of music circuits might be maladaptive rather than compensatory.Elevated spontaneous regional activity disrupts their connections, which might be a specific expression of neural plasticity for certain regions.Our findings have implications for cognitive causes (abnormal memory and/or cognitive control to music salients) of amusia.
Spin squeezing with itinerant dipoles: A case for shallow lattices
Authors: Wellnitz David , Mamaev Mikhail , Bilitewski Thomas , Rey Ana Maria 
Published: February 2024

Entangled spin squeezed states generated via dipolar interactions in lattice models provide unique opportunities for quantum enhanced sensing and are now within reach of current experiments. A critical question in this context is which parameter regimes offer the best prospects under realistic conditions. Light scattering in deep lattices can induce significant decoherence and strong Stark shifts, while shallow lattices face motional decoherence as a fundamental obstacle. Here we analyze the interplay between motion and spin squeezing in itinerant fermionic dipoles in one dimensional chains using exact matrix product state simulations. We demonstrate that shallow lattices can achieve more than 5 dB of squeezing, outperforming deep lattices by up to more than 3 dB, even in the presence of low filling, loss, and decoherence. We relate this finding to SU(2)-symmetric superexchange interactions, which keep spins aligned and protect collective correlations. We show that the optimal regime is achieved for small repulsive off-site interactions, with a trade-off between maximal squeezing and optimal squeezing time.

Published by the American Physical Society
2024
Sustaining learning study: perspectives of the curriculum leaders
Authors: Pang Ming Fai , Ki Wing Wah 
Published: February 2024

PurposeThe aim of this study is to illuminate the perceptions of the essential factors for sustaining Learning Study of the curriculum leaders who have led Learning Study in schools over a sustained period.Design/methodology/approachThis study adopted a case study research approach to explore the perspectives of the curriculum leaders regarding the sustainability of Learning Study. Data were collected through interviews, observations and document analysis. To analyse the data, thematic analysis was conducted to identify themes related to the research aim.FindingsFour themes were deemed crucial by the curriculum leaders for sustaining Learning Study: (1) integrating Learning Study into the overall development plan of the school, with milestones recognisable by all stakeholders; (2) developing a shared understanding of and patience towards the different developmental needs of stakeholders; (3) developing a sustained programme of professional development for teachers regarding variation theory of learning, which underpins Learning Study; and (4) creating an improvement culture and a safe environment for sustaining professional development. We argue that Learning Study models should be flexible that they fit various school contexts while retaining the aim of enabling learning.Originality/valueSustaining Learning Study in schools becomes a challenge if support in the form of government funding and research involvement from tertiary institutions is withdrawn. This study is the first to voice the opinions of school curriculum leaders regarding this complex issue, who play a key role in initiating, implementing and sustaining Learning Study.
Does consumption values and ascribed responsibility predict attitudes towards sustainable luxury brands
Authors: Aggarwal Ekta , Singh Anurupa B. , Misra Richa 
Published: February 2024

PurposeThe young generation (Gen Z and Millennials) has a different set of values that the brand needs to interpret better. There is evidence of a correlation between luxury brands and sustainability. The purpose of this study is to assess the impact of consumers’ consumption values (functional, experiential, and symbolic) and ethical values (ascribed responsibility) through flow experience (FE) on consumers’ attitudes towards sustainable luxury brands (SLB) in the young generation based on stimulus-organism-response theory.Design/methodology/approachThe research design consists of Studies 1 and 2. Study 1 used a structured questionnaire on a sample of 396 respondents based on the scales of luxury consumption values. For Study 2, the authors collected 30 qualitative responses from the target group (young Indian shoppers who indulge in luxury fashion shopping frequently) via open-ended essays. PLS-SEM was used to test the hypothesised relationship.FindingsAs per the results, functional values are the most significant predictors of FE, followed by AR, experiential values and symbolic values. The study also discovered that FE has a substantial influence on the formation of attitudes towards sustainable luxury fashion brands. The qualitative findings were in line with the quantitative findings, except that the respondents have reservations with respect to the authenticity of sustainable initiatives by the brands.Practical implicationsAs the young consumer represents the future development of the luxury market, it is crucial to fully comprehend their view with respect to consumption value and AR in an emerging economy like India, which constitutes one of the highest populations of young consumers. The new research framework will also assist luxury brand managers in the formulation of efficient brand marketing strategies for sustainable luxury apparel.Originality/valuePrevious studies have mainly focused on FE in the context of the service industry. There are limited studies exploring the impact of achieving FE in framing the attitude towards sustainable luxury fashion brands. Academic research in the area so far has limited its scope to quantitative and a few qualitative studies, but this study provides a mixed-methods approach in a luxury setting, contributing to the study’s distinctiveness.
Macro level literature analysis of Islamic banking and finance in Covid-19 crisis
Authors: Raza Muhammad Wajid 
Published: February 2024

Purpose
The purpose of this study is to conduct a systematic content review and bibliometric analysis of the current research trends, core concepts and knowledge mapping on the topic Islamic Banking and Finance (IBF) during Covid-19. Apart from highlighting the contributions of prolific authors, prominent institutions and countries, a comprehensive review of a significant number of documents using co-citation and co-word analysis is carried out for the science mapping.

Design/methodology/approach
A data set of 125 papers was collected published in Scopus database during the period December, 2019 and January 5th, 2023. Yearly publications, most-cited papers and authors, active sources, affiliations and countries are highlighted with descriptive analysis. Knowledge structure of the topic was mapped with investigating the social, intellectual and conceptual structures of IBF research. Content analysis is carried out to uncover the underlying research clusters that shape the scientific knowledge structure of studies.

Findings
A diverse group of authors and institutions contribute to the growing body of knowledge on the topic. IBF is adopting new paradigms and frameworks to integrate FinTech, crowd funding and Islamic social finance to provide sustainable solutions in both crisis and normal periods. The research on IBF is classified in to three themes: “financial markets in Covid-19,” “modeling risk and market regimes” and “FinTech and Islamic social finance.”

Research limitations/implications
This study collects data only from Scopus database. Future studies must include research articles from other databases such as, Web of Sciences.

Originality/value
This study highlights research gaps in the existing literature and provides directions for future research.