bluuebunny/crossref_metadata_2025_split huggingface dataset:
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS
Authors: Dharmadhikari Avinash V. , Abad Maria Alba , Khan Sheraz , Maroofian Reza , Sands Tristan T. , Ullah Farid , Samejima Itaru , Wear Martin A. , Moore Kiara E. , Kondakova Elena , Mitina Natalia , Schaub Theres , Lee Grace K. , Umandap Christine H. , Berger Sara M. , Iglesias Alejandro D. , Popp Bernt , Jamra Rami Abou , Gabriel Heinz , Rentas Stefan , Rippert Alyssa L , Izumi Kosuke , Conlin Laura K. , Koboldt Daniel C. , Mosher Theresa Mihalic , Hickey Scott E. , Albert Dara V.F. , Norwood Haley , Lewanda Amy Feldman , Dai Hongzheng , Liu Pengfei , Mitani Tadahiro , Marafi Dana , Pehlivan Davut , Posey Jennifer E. , Lippa Natalie , Vena Natalie , Heinzen Erin L , Goldstein David B. , Mignot Cyril , de Sainte Agathe Jean-Madeleine , Al-Sannaa Nouriya Abbas , Zamani Mina , Sadeghian Saeid , Azizimalamiri Reza , Seifia Tahere , Zaki Maha S. , Abdel-Salam Ghada M.H. , Abdel-Hamid Mohamed , Alabdi Lama , Alkuraya Fowzan Sami , Dawoud Heba , Lofty Aya , Bauer Peter , Zifarelli Giovanni , Afzal Erum , Zafar Faisal , Efthymiou Stephanie , Gossett Daniel , Towne Meghan C. , Yeneabat Raey , Wontakal Sandeep N. , Aggarwal Vimla S. , Rosenfeld Jill A. , Tarabykin Victor , Ohta Shinya , Lupski James R. , Houlden Henry , Earnshaw William C. , Davis Erica E. , Jeyaprakash A. Arockia , Liao Jun 
Published: January 2024

SUMMARYSPOUT1/CENP-32encodes a putative SPOUT RNA methyltransferase previously identified as a mitotic chromosome associated protein. SPOUT1/CENP-32 depletion leads to centrosome detachment from the spindle poles and chromosome misalignment. Aided by gene matching platforms, we identified 24 individuals with neurodevelopmental delays from 18 families with bi-allelic variants inSPOUT1/CENP-32detected by exome/genome sequencing. Zebrafishspout1/cenp-32mutants showed reduction in larval head size with concomitant apoptosis likely associated with altered cell cycle progression.In vivocomplementation assays in zebrafish indicated thatSPOUT1/CENP-32missense variants identified in humans are pathogenic. Crystal structure analysis of SPOUT1/CENP-32 revealed that most disease-associated missense variants mapped to the catalytic domain. Additionally, SPOUT1/CENP-32 recurrent missense variants had reduced methyltransferase activityin vitroand compromised centrosome tethering to the spindle poles in human cells. Thus,SPOUT1/CENP-32pathogenic variants cause an autosomal recessive neurodevelopmental disorder: SpADMiSS (SPOUT1Associated Development delay Microcephaly Seizures Short stature) underpinned by mitotic spindle organization defects and consequent chromosome segregation errors.
Generating complex explanations for artificial intelligence models: an application to clinical data on severe mental illness
Authors: Banerjee Soumya 
Published: January 2024

AbstractWe present an explainable artificial intelligence methodology for predicting mortality in patients. We combine clinical data from an electronic patient healthcare record system with factors relevant for severe mental illness and then apply machine learning.The machine learning model is used to predict mortality in patients with severe mental illness.Our methodology uses class-contrastive reasoning. We show how machine learning scientists can use class-contrastive reasoning to generate complex explanations that explain machine model predictions and the data.An example of a complex class-contrastive explanation is the following: “ The patient is predicted to have a low probability of death because the patient has self-harmed before, and was at some point on medications such as first-generation and second-generation antipsychotics. There are 11 other patients with these characteristics. If the patient did not have these characteristics, the prediction would be different. ”This can be used to generate new hypotheses which can be tested in follow-up studies.Our technique can be employed to create intricate explanations from healthcare data and possibly other areas where explainability is important. We hope this will be a step towards explainable AI in personalized medicine.
Population clustering of structural brain aging and its association with brain development
Authors: Duan Haojing , Shi Runye , Kang Jujiao , Banaschewski Tobias , Bokde Arun L. W. , Büchel Christian , Desrivières Sylvane , Flor Herta , Grigis Antoine , Garavan Hugh , Gowland Penny A. , Heinz Andreas , Brühl Rüdiger , Martinot Jean-Luc , Martinot Marie-Laure Paillère , Artiges Eric , Nees Frauke , Papadopoulos Orfanos Dimitri , Poustka Luise , Hohmann Sarah , Holz Nathalie , Fröhner Juliane H. , Smolka Michael N. , Vaidya Nilakshi , Walter Henrik , Whelan Robert , Schumann Gunter , Lin Xiaolei , Feng Jianfeng ,   IMAGEN consortium
Published: January 2024

AbstractStructural brain aging has demonstrated strong inter-individual heterogeneity and mirroring patterns with brain development. However, due to the lack of large-scale longitudinal neuroimaging studies, most of the existing research focused on the cross-sectional changes of brain aging. In this investigation, we present a data-driven approach that incorporate both cross-sectional changes and longitudinal trajectories of structural brain aging and identified two brain aging patterns among 37,013 healthy participants from UK Biobank. Participants with accelerated brain aging also demonstrated accelerated biological aging, cognitive decline and increased genetic susceptibilities to major neuropsychiatric disorders. Further, by integrating longitudinal neuroimaging studies from a multi-center adolescent cohort, we validated the “last in, first out” mirroring hypothesis and identified brain regions with manifested mirroring patterns between brain aging and brain development. Genomic analyses revealed risk loci and genes contributing to accelerated brain aging and delayed brain development, providing molecular basis for elucidating the biological mechanisms underlying brain aging and related disorders.
Effects of a diverse prebiotic fibre supplement on HbA1c, insulin sensitivity, and inflammatory biomarkers in pre-diabetes: a randomised placebo-controlled clinical trial
Authors: Hall C.V. , Twelves J.L. , Saxena M. , Scapozza L , Gurry T. 
Published: January 2024

AbstractPrebiotic fibre represents a promising and efficacious treatment to manage pre-diabetes, acting via complementary pathways involving the gut microbiome and viscosity-related properties. In this study, we evaluated the effect of using a diverse prebiotic fibre supplement on glycaemic, lipid, and inflammatory biomarkers in patients with pre-diabetes. Sixty-six patients diagnosed with pre-diabetes (yet not receiving glucose-lowering medications) were randomised into treatment (n = 33) and placebo (n = 33) interventions. Participants in the treatment arm consumed 20g per day of a diverse prebiotic fibre supplement and participants in the placebo arm consumed 2g per day of cellulose for 24 weeks. A total of 51 and 48 participants completed the week 16 and week 24 visits, respectively. The intervention was well-tolerated, with a high average adherence rate across groups. Our results extend upon previous work, showing a significant change in glycated haemoglobin (HbA1c) in the treatment group, but only in participants with lower baseline HbA1c levels (<6% HbA1c). Within the whole cohort, we showed significant improvements in insulin sensitivity, fasting plasma insulin, and C-reactive protein in the treatment group compared with the placebo. We did not observe any between-group differences in lipid profiles or other inflammatory cytokines. Together, our results show support for the beneficial effects of a diverse prebiotic fibre supplement on physiologically relevant biomarkers in pre-diabetes.
Song Torrent: A modular, open-source 96-chamber audio and video recording apparatus with optogenetic activation and inactivation capabilities forDrosophila
Authors: Sawtelle Steve , Narayan Lakshmi , Ding Yun , Kim Elizabeth , Behrman Emily L. , Lillvis Joshua L. , Kawase Takashi , Stern David L. 
Published: January 2024

AbstractBackgroundManyDrosophilaspecies use acoustic communication during courtship and studies of these communication systems have provided insight into neurobiology, behavioral ecology, ethology, and evolution.RecordingDrosophilacourtship sounds and associated behavior is challenging, especially at high throughput, and previously designed devices are relatively expensive and complex to assemble.ResultsWe present construction plans for a modular system utilizing mostly off-the-shelf, relatively inexpensive components that provides simultaneous high-resolution audio and video recording of 96 isolated or pairedDrosophilaindividuals.We provide open-source control software to record audio and video.We designed high intensity LED arrays that can be used to perform optogenetic activation and inactivation of labelled neurons.The basic design can be modified to facilitate novel study designs or to record insects larger thanDrosophila.Fewer than 96 microphones can be used in the system if the full array is not required or to reduce costs.ImplicationsOur hardware design and software provide an improved platform for reliable and comparatively inexpensive high-throughput recording ofDrosophilacourtship acoustic and visual behavior and perhaps for recording acoustic signals of other small animals.
Altered Extracellular Matrix Structure and Elevated Stiffness in a Brain Organoid Model for Disease
Authors: Zur Maayan Karlinski , Bhattacharya Bidisha , Dror Sivan Ben , Solomonov Inna , Savidor Alon , Sapir Tamar , Harris Talia , Olender Tsviya , Sagi Irit , Schmidt Rita , Schwarz J. M. , Buxboim Amnon , Reiner Orly 
Published: January 2024

AbstractThe viscoelasticity of tissues impacts their shape, as well as the growth and differentiation of their cells. Nevertheless, little is known about changes in viscoelastic properties during brain malformations. Lissencephaly is a severe malformation of cortical development caused by LIS1 mutations, which results in a lack of cortical convolutions. Here, we show that human-derived brain organoids withLIS1mutation are stiffer than control ones at multiple developmental times. This stiffening is accompanied by abnormal ECM expression and organization, as well as elevated water content, as measured by diffusion-weighted MRI. Proteolytic cleavage of ECM components by short-term treatment with the catalytic subunit of MMP9 reduced the stiffening and water diffusion levels of mutated organoids to control levels. Finally, based on the molecular and rheological properties obtained, we generated a computational microstructure mechanical model that can successfully predict mechanical changes that follow differential ECM localization and integrity in the developing brain. Overall, our study reveals that LIS1 is essential for the expression and organization of ECM proteins during brain development, and its mutation leads to a substantial viscoelastic change. To our knowledge, this is the first study to elucidate how tissue mechanics change in disease states using human brain organoids.
Dopaminergic Changes in the Subgenual Cingulate Cortex in Dementia with Lewy Bodies Associates with Presence of Depression
Authors: Gliaudelytė Lina , Rushton Steven P , Berlinguer-Palmini Rolando , Thomas Alan J , Morris Christopher M 
Published: January 2024

AbstractIn addition to the core clinical features of fluctuating cognition, visual hallucinations, and parkinsonism, individuals with dementia with Lewy bodies (DLB) frequently experience chronic and debilitating major depression. Treatment of depression in DLB is hampered by a lack of available effective therapies and standard serotonergic medication for major depressive disorder (MDD) is typically ineffective. Dysfunction of dopaminergic neurotransmission contributing to anhedonia and loss of motivation has been described in MDD. The subgenual anterior cingulate (sgACC) is important in mood regulation and in the symptomatic expression of depression, displaying structural, functional and metabolic abnormalities in MDD. To assess dopaminergic and serotonergic synaptic changes in DLB, post mortem sgACC tissue from DLB donors with and without depression was investigated using high-resolution stimulated emission depletion (STED) microscopy, as well as Western and dot blotting techniques. STED imaging demonstrated the presence of α-synuclein within individual dopaminergic terminals in the sgACC, α-synuclein presence showing a significant positive correlation with increased SNAP25 volumes in depressed DLB cases. A reduction in dopaminergic innervation in the sgACC was observed in DLB cases with depression, along with reduced levels of multiple dopaminergic markers and receptors. Limited alterations were observed in serotonergic markers. Our work demonstrates a role for dopaminergic neurotransmission in the aetiology of depression in DLB. Careful and selective targeting of dopaminergic systems may be a therapeutic option for treatment of depression in DLB.
Substrate recognition mechanism of the endoplasmic reticulum-associated ubiquitin ligase Doa10
Authors: Wu Kevin , Itskanov Samuel , Lynch Diane L. , Chen Yuanyuan , Turner Aasha , Gumbart James C. , Park Eunyong 
Published: January 2024

AbstractDoa10 (MARCH6 in metazoans) is a large polytopic membrane-embedded E3 ubiquitin ligase in the endoplasmic reticulum (ER) that plays an important role in quality control of cytosolic and ER proteins. Although Doa10 is highly conserved across eukaryotes, it is not understood how Doa10 recognizes its substrates. Here, we defined the substrate recognition mechanism of Doa10 by structural and functional analyses onSaccharomyces cerevisiaeDoa10 and its well-defined degron Deg1. Cryo-EM analysis shows that Doa10 has unusual architecture with a large lipid-filled central cavity, and its conserved middle domain forms an additional water-filled lateral tunnel open to the cytosol. Our biochemical data and molecular dynamics simulations suggest that the entrance of the substrate’s degron peptide into the lateral tunnel is required for efficient polyubiquitination. The N- and C-terminal membrane domains of Doa10 seem to form fence-like features to restrict polyubiquitination to those proteins that can access the central cavity and lateral tunnel.
A numerical study on the effects of inclination angle and container material on thermal energy storage by phase change material in a thick-walled disc
Authors: Kiyak Burak , Oztop Hakan Fehmi , Aksoy Ishak Gökhan 
Published: January 2024

Purpose
The purpose of this study is to examine the effects of inclination angle on the thermal energy storage capability of a phase change material (PCM) within a disc-shaped container. Different container materials are also tested such as plexiglass and aluminium. This study aims to assess the energy storage capacity, melting behaviour and temperature distributions of PCM with a specific melting range (22°C–26°C) for various governing parameters such as inclination angles, aspect ratios (AR) and temperature differences (ΔT) and compare the melting behaviour and energy storage performance of PCM in aluminium containers to those in plexiglass containers.

Design/methodology/approach
A finite volume approach was adopted to evaluate the thermal energy storage capability of PCMs. Five inclination angles ranging from 0° to 180° were considered and the energy storage capacity. Also, the melting behaviour of the PCM and temperature distributions of the container with different materials were tested. Two different AR and ΔT values were chosen as parameters to analyse for their effects on the melting performance of the PCM. Conjugate heat transfer problem is solved to see the effects of conduction mode of heat transfer.

Findings
The results of the study indicate that as AR decreases, the effect of the inclination angles on the energy storage capacity of the PCM decreases. For lower ΔT, the difference between the maximum and minimum stored energies was 20.88% for AR = 0.20, whereas it was 6.85% for AR = 0.15. Furthermore, under the same conditions, the PCM stored 8.02% more energy in plexiglass containers than in aluminium containers.

Originality/value
This study contributes to the understanding of the influence of inclination angle, container material, AR and ΔT on the thermal energy storage capabilities of PCM in a novel designed container. The findings highlight the importance of AR in mitigating the effect of the inclination angle on energy storage capacity. Additionally, comparing aluminium and plexiglass containers provides insights into the effect of container material on the melting behaviour and energy storage properties of PCM.
Uncovering perspectives on SDG integration for university transformations
Authors: Cuesta-Claros Andrea , Bonar Gary , Malekpour Shirin , Raven Rob , Kestin Tahl 
Published: January 2024

Purpose
This case study explores different perspectives on integrating the Sustainable Development Goals (SDGs) in universities to achieve university transformations. This study recognises that university actors think differently about the purpose of universities, hold diverse perspectives on the SDGs, and, thus, prefer specific types of SDG integration.

Design/methodology/approach
Using Q methodology, 29 participants from one university expressed their perspectives by sorting 50 statements covering different types of SDG integration. Statements were based on academic and grey literature on SDG integration in universities, and interviews with university actors from a previous study. After the sorting task, participants were interviewed to understand the reasons behind the placement of particular statements.

Findings
The study identifies three perspectives held by the study participants. Perspective 1 emphasises the value of the SDGs and supports a deep integration of the Goals in their university. Perspective 1 also advocates for incorporating the SDGs into the university’s identity. Perspective 2 sees the university’s purpose as more comprehensive than the SDGs; thus, the university should develop knowledge regardless of its relevance to the SDGs. This perspective supports a pragmatic integration of the SDGs – favouring actions that benefit the university without introducing significant changes. Finally, Perspective 3 argues that the university should approach the SDGs through social justice and empowerment lenses. This perspective also questions the suitability of the SDGs for universities, arguing that the SDGs fail to challenge current structures underpinning the unsustainability of the world.

Originality/value
Although previous studies have analysed diverse ways of understanding the SDGs in universities, to the best of the authors’ knowledge, this study is the first to treat the SDGs as a governance framework of 17 goals and adopt a whole-institution approach to study universities.
Adding value to the VRIO framework using DEMATEL
Authors: Lacaze Agathe S. , Ferreira Fernando A.F. , Santos Margarida R. 
Published: January 2024

PurposeStrategic management plays a pivotal role in the growth and success of organizations, significantly impacting their business performance and competitive edge. In today’s globalized markets, strategic management is gaining prominence as a means to enhance company performance and distinctiveness. Within this landscape, the evaluation of organizational effectiveness takes on heightened significance, complemented by the emergence of strategic management frameworks designed to secure enduring competitive advantages for businesses.Design/methodology/approachOne of the best known approaches to organizational resource assessment is the value, rarity, inimitability and organizational-oriented (VRIO) framework. However, this tool comes with inherent limitations that have hindered its advancement, primarily related to the need for less subjective means of identifying and assigning weights to resources and capabilities during the evaluation process. This study, therefore, endeavored to refine the VRIO framework, making it more transparent and empirically robust. To achieve this aim, the framework was combined with the decision-making trial and evaluation laboratory (DEMATEL) method (i.e. a multiple criteria decision analysis (MCDA) method), and a real-life application was conducted.FindingsThe evaluation system created was tested, and the results demonstrate that the dual methodology used can increase the understanding of resource appraisal and lead to more informed and potentially better evaluations of resources and capabilities. The strengths and shortcomings of this new structured evaluation model are also analyzed.Originality/valueThe authors know of no prior work reporting the integrated use of VRIO and DEMATEL in this study context.
The endosymbiont Serratia symbiotica improves aphid fitness by disrupting the predation strategy of ladybeetle larvae
Authors: Wang Zheng‐Wu , Zhao Jin , Li Guang‐Yun , Hu Die , Wang Zi‐Guo , Ye Chao , Wang Jin‐Jun 
Published: January 2024

AbstractAphids, the important global agricultural pests, harbor abundant resources of symbionts that can improve the host adaptability to environmental conditions, also control the interactions between host aphid and natural enemy, resulting in a significant decrease in efficiency of biological control. The facultative symbiont Serratia symbiotica has a strong symbiotic association with its aphid hosts, a relationship that is known to interfere with host–parasitoid interactions. We hypothesized that Serratia may also influence other trophic interactions by interfering with the physiology and behavior of major predators to provide host aphid defense. To test this hypothesis, we investigated the effects of Serratia on the host aphid Acyrthosiphon pisum and its predator, the ladybeetle Propylaea japonica. First, the prevalence of Serratia in different A. pisum colonies was confirmed by amplicon sequencing. We then showed that harboring Serratia improved host aphid growth and fecundity but reduced longevity. Finally, our research demonstrated that Serratia defends aphids against P. japonica by impeding the predator's development and predation capacity, and modulating its foraging behavior. Our findings reveal that facultative symbiont Serratia improves aphid fitness by disrupting the predation strategy of ladybeetle larvae, offering new insight into the interactions between aphids and their predators, and providing the basis of a new biological control strategy for aphid pests involving the targeting of endosymbionts.