bluuebunny/crossref_metadata_2025_split huggingface dataset:
Functional Assessment and Impact of Seizures on Cognitive Outcome in a Cohort of Individuals with KBG Syndrome
Authors: Sarino Kathleen P , Guo Lily , Yi Edward , Park Jiyeon , Kierzkowska Ola , Carter Drake , Marchi Elaine , Lyon Gholson J 
Published: April 2024

AbstractOBJECTIVEThis study aimed to further examine the impact of epileptic seizures on neurocognitive outcomes in KBG syndrome, a rare genetic neurodevelopmental disorder characterized by pathogenic variants in the gene ANKRD11.METHODSA single clinician interviewed a cohort of individuals with genetically confirmed cases of KBG syndrome. Medical records and other relevant data were collected for each participant. To evaluate participants’ adaptive functioning, trained professionals conducted assessments using the Vineland–3 Adaptive Behavior Scales. The assessment compared individuals with epilepsy to those without seizures and covered the domains of communication, daily living skills, socialization, and maladaptive behaviors. Further comparisons were drawn based on insights from interviews and information extracted from participants’ medical records.RESULTSThirty-nine individuals (22 males, 17 females) with KBG syndrome, confirmed through genetic analysis, were interviewed via videoconferencing by a single physician, followed by Vineland-3 assessment by trained raters. Individuals with KBG syndrome came from 36 unique families spanning 11 countries. While the KBG cohort displayed lower overall adaptive behavior composite scores compared to the average population, several members displayed standard scores at or higher than average, as well as higher scores compared to those with the neurodevelopmental disorder Ogden syndrome. Within the KBG cohort, males consistently scored lower than females across all domains, but none of these categories reached statistical significance. While the group with epilepsy exhibited overall lower scores than the non-seizure group in every category, statistical significance was only reached in the written communication subdomain. We predict this lack of significance is limited by low sample size, reducing study power.CONCLUSIONSDue to the rarity of KBG syndrome, our research provides valuable insights that can aid in epilepsy screening and inform assessment strategies for neurocognitive functioning in those with this condition. The cohort performed overall higher than expected with outliers existing in both directions. Although our results suggest that seizures might influence the trajectory of KBG syndrome, the approaching but overall absence of statistical significance between study groups underscores the necessity for a more extensive cohort to discern subtle variations in functioning. Conducting Vineland–3 assessments in the KBG syndrome population can enhance research insights regarding differences between those with and without epilepsy. Given the data collected, we recommend vigilant monitoring for seizures following a KBG diagnosis, with consideration for performing baseline EEG assessments.
Polycystins recruit cargo to distinct ciliary extracellular vesicle subtypes
Authors: Nikonorova Inna A. , desRanleau Elizabeth , Jacobs Katherine C. , Saul Joshua , Walsh Jonathon D. , Wang Juan , Barr Maureen M. 
Published: April 2024

SummaryTherapeutic use of tiny extracellular vesicles (EVs) requires understanding cargo loading mechanisms. Here, we used a modular proximity label approach to identify EV cargo associated with the transient potential channel (TRP) polycystin PKD-2 ofC. elegans. Polycystins are conserved receptor-TRP channel proteins affecting cilium function; dysfunction causes polycystic kidney disease in humans and mating deficits inC. elegans. Polycystin-2 EV localization is conserved from algae to humans, hinting at an ancient and unknown function. We discovered that polycystins associate with and direct specific cargo to EVs: channel-like PACL-1, dorsal and ventral membrane C-type lectins PAMLs, and conserved tumor necrosis-associated factor (TRAF) signaling adaptors TRF-1 and TRF-2. Loading of these components relied on polycystin-1 LOV-1. Our modular EV-TurboID approach can be applied in both cell– and tissue-specific manners to define the composition of distinct EV subtypes, addressing a major challenge of the EV field.
Stress in utero: effects on gliovascular integrity in female infant offspring
Authors: Rodrigues Magda , Sousa Inês , Baptista Filipa , Coelho-Santos Vanessa 
Published: April 2024

AbstractFrom early in life, experiences like prenatal stress profoundly affect long-term health and behavior. Maternal stress increases fetal exposure to glucocorticoids (GC), disrupting neurodevelopment and raising susceptibility to psychiatric disorders. Previous studies on synthetic GCs, such as dexamethasone (DEX), revealed impairments in neurogenesis and dendritic spine development. However, the influence of prenatal stress on the gliovascular interface remains unclear. This interface, involving the relationship between astrocytes and blood vessels, is essential for healthy brain development. Our study demonstrates that prenatal stress alters the expression and localization of astrocytic proteins crucial for maintaining vascular homeostasis, such as aquaporin-4, in female offspring exposed to DEX. While overall vascular density remains unaffected, it triggers morphological changes. Particularly, the hippocampus and prefrontal cortex exhibit heightened vulnerability to these effects. This study reveals prenatal stress as a potent disruptor of gliovascular development, urging deeper inquiry into its implications.
BatR: A novel regulator of antibiotic tolerance inPseudomonas aeruginosabiofilms
Authors: Piazza Ainelen , Dasanayaka Harshanie , Saalbach Gerhard , Martins Carlo , Trampari Eleftheria , Webber Mark A. , Harrison Freya , Malone Jacob G. 
Published: April 2024

ABSTRACTPseudomonas aeruginosais a multidrug-resistant opportunistic human pathogen. Chronic infections are associated with biofilms, conferring resistance to antibiotics and complicating treatment strategies. This study focuses on understanding the role of the uncharacterized genePA3049, upregulated under biofilm conditions. In the context ofP. aeruginosabiofilms,PA3049plays a role in withstanding antimicrobial challenges bothin vitroand in clinically validated infection models. Under sub-inhibitory concentrations of antibiotic, the deletion ofPA3049resulted in reduced pyocyanin production and altered abundance of enzymes controlling denitrification, pyoverdine, and hydrogen cyanide biosynthesis. Notably, PA3049 directly interacts with two kinases implicated in stress response, inactivating their active sites. Renamed as theBiofilmantibiotic toleranceRegulator (BatR), PA3049 is a key player inP. aeruginosabiofilm maintenance and antimicrobial tolerance. These findings contribute to understanding the complex bacterial lifestyle in biofilms, shedding light on a previously uncharacterized gene with significant implications for combating multidrug-resistant infections.IMPORTANCEP. aeruginosais a multidrug-resistant ESKAPE pathogen that causes chronic biofilm-based infections and is a leading cause of mortality in cystic fibrosis (CF) patients. Understanding the molecular mechanisms underlyingP. aeruginosabiofilm resilience and antimicrobial resistance is crucial for developing effective therapeutic interventions. This study focuses on characterizing the genePA3049, now known as thebiofilmantibiotic toleranceRegulator(batR). BatR plays a central role withinP. aeruginosabiofilms, orchestrating adaptive responses to antimicrobial challenges. Our work sheds light on the contribution ofbatRto biofilm biology and its relevance in lung infections, where subinhibitory antibiotic concentrations make BatR pivotal for bacterial survival. By advancing our understanding ofP. aeruginosabiofilm regulation, this study holds significant promise for the development of innovative approaches against biofilm-associated infections to mitigate the growing threat of antimicrobial resistance.
Pyoverdine-antibiotic combination treatment: its efficacy and effects on resistance evolution inEscherichia coli
Authors: Vollenweider Vera , Roncoroni Flavie , Kümmerli Rolf 
Published: April 2024

AbstractAntibiotic resistance is a growing concern for global health, demanding innovative and effective strategies to combat pathogenic bacteria. Pyoverdines, iron-chelating siderophores produced by environmentalPseudomonasspp., present a novel promising approach to induce growth arrest in pathogens through iron starvation. While we have previously demonstrated the efficacy of pyoverdines as antibacterials, our understanding of how these molecules interact with antibiotics and impact resistance evolution remains unknown. Here, we investigate the propensity of differentEscherichia colivariants to evolve resistance against pyoverdine, the cephalosporin antibiotic ceftazidime, and their combination. We found that strong resistance against ceftazidime and weak resistance against pyoverdine evolved in the wildtypeE. colistrain under single and combination treatment. Ceftazidime resistance was linked to mutations in outer membrane porin genes (envZandompF), whereas pyoverdine resistance was associated with mutations in the oligopeptide permease (opp) operon. In contrast, resistance phenotypes were attenuated under combination treatment, particularly in anE. colistrain carrying a costly multicopy plasmid. Altogether, our results show that pyoverdine as an antibacterial is particularly potent and evolutionarily robust against plasmid-carryingE. colistrains, presumably because iron starvation compromises both cellular metabolism and plasmid replication.
Using rapid invisible frequency tagging (RIFT) to probe the attentional distribution between speech planning and comprehension
Authors: Hustá Cecília , Meyer Antje , Drijvers Linda 
Published: April 2024

AbstractInterlocutors often use the semantics of comprehended speech to inform the semantics of planned speech. Do representations of the comprehension and planning stimuli interact on a neural level? We used rapid invisible frequency tagging (RIFT) and EEG to probe the attentional distribution between spoken distractor words and target pictures in the picture-word interference (PWI) paradigm. We presented participants with auditory distractor nouns (auditory (f1); tagged at 54Hz) together with categorically related or unrelated pictures (visual (f2); tagged at 68Hz), which had to be named after a delay. RIFT elicits steady-state evoked potentials, which reflect attentional allocation to the tagged stimuli. When representations of the tagged stimuli interact, integrative effects have been observed at the intermodulation frequency resulting from an interaction of the base frequencies (f2±f1; Drijvers et al., 2021). Our results showed clear power increases at 54Hz and 68Hz during the tagging window, but no differences between related or unrelated conditions. More interestingly, we observed a larger power difference in the unrelated compared to the related condition at the intermodulation frequency (68Hz – 54Hz: 14Hz), indicating stronger interaction between the auditory and visual representations when they were unrelated. Our results go beyond standard PWI results (e.g., Bürki et al., 2020) by showing that participants do not have more difficulty visually attending to the related pictures or inhibiting the related auditory distractors. Instead, processing difficulties arise when the representations of the stimuli interact, meaning that participants might be trying to prevent integration between the auditory and visual representations in the related condition.Significance statementStudying speech planning during comprehension with EEG has been difficult due to a lack of appropriate methodology. This study demonstrates that rapid invisible frequency tagging (RIFT) can explore attentional allocation to speech planning and comprehension stimuli, as well as their interaction. Our results show that the content of the speech planning and comprehension representations affects their interaction in the neural signal, which should always be considered when these processes are studied jointly. In future work, RIFT could be used to investigate speech planning and comprehension in more conversational settings, as tagging can be added to videos or speech segments. This is the first study that demonstrates that RIFT can be used together with EEG to study cognitive phenomena.
Genomic diversity and evolution in the Hawaiian Islands endemic Kokia (Malvaceae)
Authors: Kayal Ehsan , Arick Mark A. , Hsu Chuan-yu , Thrash Adam , Yorkston Mitsuko , Morden Clifford W. , Wendel Jonathan F. , Peterson Daniel G. , Grover Corrinne E. 
Published: April 2024

AbstractIsland species are highly vulnerable due to habitat destruction and their often small population sizes with reduced genetic diversity. The Hawaiian Islands constitute the most isolated archipelago on the planet, harboring many endemic species.Kokiais an endangered flowering plant genus endemic to these islands, encompassing three extant and one extinct species. Recent studies provided evidence of unexpected genetic diversity withinKokia. Here, we provide high quality genome assemblies for all three extantKokiaspecies, including an improved genome forK. drynarioides. All threeKokiagenomes contain 12 chromosomes exhibiting high synteny within and betweenKokiaand the sister taxonGossypioides kirkii. Gene content analysis revealed a net loss of genes inK. cookeicompared to other species, whereas the gene complement inK. drynarioidesremains stable and that ofK. kauaiensisdisplays a net gain. A dated phylogeny estimates the divergence time from the last common ancestor for the threeKokiaspecies at ∼1.2 million years ago (mya), with the sister taxa [K. cookei + K. drynarioides] diverging ∼0.8 mya.Kokiaappears to have followed a stepping-stone pattern of colonization and diversification of the Hawaiian Archipelago, likely starting on low or now submerged older islands. The genetic resources provided may benefit conservation efforts of this endangered endemic genus.
Youth Psychotic Experiences: Diagnostic Associations and Evaluation of the CAPE-16
Authors: Birkenæs Viktoria , Parekh Pravesh , Hegemann Laura , Bakken Nora R. , Frei Evgeniia , Jaholkowski Piotr , Smeland Olav B. , Susser Ezra , Rodriguez Katrina M. , Tesfaye Markos , Andreassen Ole A. , Havdahl Alexandra , Sønderby Ida E. 
Published: April 2024

AbstractBackgroundAdolescent self-reported psychotic experiences are associated with mental illness and could help guide prevention strategies. The Community Assessment of Psychic Experiences (CAPE) was developed over 20 years ago. In a rapidly changing society, where new generations of adolescents are growing up in an increasingly digital world, it is crucial to ensure high reliability and validity of the questionnaire.MethodsIn this observational validation study, we used unique transgenerational questionnaire and health registry data from the Norwegian Mother, Father, and Child Cohort, a population-based pregnancy cohort. Adolescents, aged ∼14 years, responded to the CAPE-16 (n= 18,835) and fathers to the CAPE-9 questionnaire (n= 28,793). We investigated the psychometric properties of CAPE-16 through factor analyses, measurement invariance testing across biological sex, response before/during the COVID-19 pandemic, and generations (comparison with fathers), and examined associations with later psychiatric diagnoses.OutcomesOne third (33·4%) of adolescents reported lifetime psychotic experiences. We confirmed a three-factor structure (paranoia, bizarre thoughts, and hallucinations) of CAPE-16, and observed good scale reliability of the distress and frequency subscales (ω = ·86 and ·90). CAPE-16 measured psychotic experiences were invariant to biological sex and pandemic status. CAPE-9 was non-invariant across generations, with items related to understanding of the digital world (electrical influences) prone to bias. CAPE-16 sum scores were associated with a subsequent psychiatric diagnosis, particularly psychotic disorders (frequency:OR = 2·06; 97·5% CI = 1·70–2·46;distress:OR = 1·93; 97·5% CI = 1·63–2·26).InterpretationCAPE-16 showed robust psychometric properties across sex and pandemic status, and sum scores were associated with subsequent psychiatric diagnoses, particularly psychotic disorders. These findings suggest that with certain adjustments, CAPE-16 could have value as a screening tool for adolescents in the modern, digital world.FundingEuropean Union’s Horizon 2020 Programme, Research Council of Norway, South-Eastern Norway Regional Health Authority, NIMH, and the KG Jebsen Stiftelsen.
Rhizobacteria inoculation of plants for reducing insect pests: A meta-analysis on insect behaviour and fitness
Authors: Zytynska Sharon E , Parker Megan , Sanchez-Mahecha Oriana 
Published: April 2024

AbstractRhizobacteria inoculation of plants has shown promising potential for enhancing resistance against insect pests by reducing herbivore fitness and altering herbivore-natural enemy interactions. Understanding interactions among specific rhizobacterial species and their plants in the rhizosphere is crucial for developing effective strategies to harness these benefits for pest management in agriculture. We present a meta-analysis examining the impact of rhizobacteria inoculation on herbivore interactions with plants. The findings indicate that rhizobacteria inoculation generally reduces herbivore fitness and host choice behaviours. Rhizobacteria inoculation may also enhance the recruitment of natural enemies of herbivores, thus increasing top-down predator control. The effects on herbivores varied significantly depending on the rhizobacterial species, withBacillusspp. showing stronger effects compared to other commonly studiedPseudomonasspp. Rhizobacteria notably reduced traits such as host choice, leaf consumption, survival, and reproduction of chewing herbivores, while primarily impacting sucking herbivores by reducing reproduction. Single-strain inoculants tended to perform better, especially for sucking herbivores, suggesting potential strain incompatibility issues with multi-strain inoculants. Furthermore, field trials showed less impact on insect fitness reduction compared to experiments under controlled conditions, possibly due to soil diversity and environmental factors affecting inoculant persistence. These results underscore the need for considering broader environmental interactions when developing effective rhizobacteria-based pest management strategies. Understanding specific and generalist rhizosphere interactions can aid in developing synthetic microbial communities with broad protective functions across various plants and environments.
Profiling the LAM family of contact site tethers provides insights into their regulation and function
Authors: Fenech Emma J. , Kupervaser Meital , Boshnakovska Angela , Ravid Shani , Castro Inês Gomes , Asraf Yeynit , Callegari Sylvie , Lens Christof , Rehling Peter , Schuldiner Maya 
Published: April 2024

AbstractMembrane contact sites are molecular bridges between organelles that are sustained by tethering proteins and enable organelle communication. The endoplasmic reticulum (ER) membrane harbors many distinct families of tether proteins that enable the formation of contacts with all other organelles. One such example is the LAM (Lipid transfer proteinAtMembrane contact sites) family, composed of six members, each containing a lipid binding and transfer domain and an ER-embedded transmembrane segment. The family is divided into three homologous pairs each unique in their molecular architecture and localization to different ER subdomains. However, what determines the distinct localization of the different LAMs and which specific roles they carry out in each contact are still open questions. To address these, we utilized a labeling approach to profile the proximal protein landscape of the entire family. Focusing on unique interactors we could support that Lam5 resides at the ER-mitochondria contact site and demonstrate a role for it in sustaining mitochondrial activity. Capturing shared interactors of multiple LAMs, we show how the Lam1/3 and Lam2/4 paralogous pairs could be associated specifically with the plasma membrane. Overall, our work provides new insights into the regulation and function of the LAM family members. More globally it demonstrates how proximity labeling can help identify the shared or unique functions of paralogous proteins.
Electronic band structure of
Sb2Te3
Authors: Mohelsky I. , Wyzula J. , Le Mardelé F. , Abadizaman F. , Caha O. , Dubroka A. , Sun X. D. , Cho C. W. , Piot B. A. , Tanzim M. F. , Aguilera I. , Bauer G. , Springholz G. , Orlita M. 
Published: April 2024

We report on Landau-level spectroscopy of an epitaxially grown thin film of the topological insulator Sb2Te3, complemented by ellipsometry and magnetotransport measurements. The observed response suggests that Sb2Te3 is a direct-gap semiconductor with the fundamental band gap located at the Γ point or along the trigonal axis, and its width reaches Eg=(190±10) meV at low temperatures. Our data also indicate the presence of other low-energy extrema with a higher multiplicity in both the conduction and valence bands. The conclusions based on our experimental data are confronted with and to a great extent corroborated by the electronic band structure calculated using the GW method.

Published by the American Physical Society
2024