bluuebunny/crossref_metadata_2025_split huggingface dataset:
Fibrillin-1 deficiency in the outer perichondrium causes longitudinal bone overgrowth in mice with Marfan syndrome
Authors: Sedes Lauriane , Wondimu Elisa , Crockett Brittany , Hansen Jens , Cantalupo Anna , Asano Keiichi , Iyengar Ravi , Rifkin Daniel B , Smaldone Silvia , Ramirez Francesco 
Published: May 2022

Abstract
A disproportionate tall stature is the most evident manifestation in Marfan syndrome (MFS), a multisystem condition caused by mutations in the extracellular protein and TGFβ modulator, fibrillin-1. Unlike cardiovascular manifestations, there has been little effort devoted to unravel the molecular mechanism responsible for long bone overgrowth in MFS. By combining the Cre-LoxP recombination system with metatarsal bone cultures, here we identify the outer layer of the perichondrium as the tissue responsible for long bone overgrowth in MFS mice. Analyses of differentially expressed genes in the fibrillin-1-deficient perichondrium predicted that loss of TGFβ signaling may influence chondrogenesis in the neighboring epiphyseal growth plate (GP). Immunohistochemistry revealed that fibrillin-1 deficiency in the outer perichondrium is associated with decreased accumulation of latent TGFβ-binding proteins (LTBPs)-3 and -4, and reduced levels of phosphorylated (activated) Smad2. Consistent with these findings, mutant metatarsal bones grown in vitro were longer and released less TGFβ than the wild-type counterparts. Moreover, addition of recombinant TGFβ1 normalized linear growth of mutant metatarsal bones. We conclude that longitudinal bone overgrowth in MFS is accounted for by diminished sequestration of LTBP-3 and LTBP-4 into the fibrillin-1-deficient matrix of the outer perichondrium, which results in less TGFβ signaling locally and improper GP differentiation distally.
Evaluation of nanopore sequencing for epigenetic epidemiology: a comparison with DNA methylation microarrays
Authors: Flynn Robert , Washer Sam , Jeffries Aaron R , Andrayas Alexandria , Shireby Gemma , Kumari Meena , Schalkwyk Leonard C , Mill Jonathan , Hannon Eilis 
Published: May 2022

Abstract
Most epigenetic epidemiology to date has utilized microarrays to identify positions in the genome where variation in DNA methylation is associated with environmental exposures or disease. However, these profile less than 3% of DNA methylation sites in the human genome, potentially missing affected loci and preventing the discovery of disrupted biological pathways. Third generation sequencing technologies, including Nanopore sequencing, have the potential to revolutionize the generation of epigenetic data, not only by providing genuine genome-wide coverage but profiling epigenetic modifications direct from native DNA. Here we assess the viability of using Nanopore sequencing for epidemiology by performing a comparison with DNA methylation quantified using the most comprehensive microarray available, the Illumina EPIC array. We implemented a CRISPR-Cas9 targeted sequencing approach in concert with Nanopore sequencing to profile DNA methylation in three genomic regions to attempt to rediscover genomic positions that existing technologies have shown are differentially methylated in tobacco smokers. Using Nanopore sequencing reads, DNA methylation was quantified at 1779 CpGs across three regions, providing a finer resolution of DNA methylation patterns compared to the EPIC array. The correlation of estimated levels of DNA methylation between platforms was high. Furthermore, we identified 12 CpGs where hypomethylation was significantly associated with smoking status, including 10 within the AHRR gene. In summary, Nanopore sequencing is a valid option for identifying genomic loci where large differences in DNAm are associated with a phenotype and has the potential to advance our understanding of the role differential methylation plays in the etiology of complex disease.
Whole exome sequencing of known eye genes reveals genetic causes for high myopia
Authors: Haarman Annechien E G , Thiadens Alberta A H J , van Tienhoven Marianne , Loudon Sjoukje E , de Klein J E M M Annelies , Brosens Erwin , Polling Jan Roelof , van der Schoot Vyne , Bouman Arjan , Kievit Anneke J A , Hoefsloot Lies H , Klaver Caroline C W , Verhoeven Virginie J M 
Published: May 2022

Abstract
High myopia [refractive error ≤ −6 diopters (D)] is a heterogeneous condition, and without clear accompanying features, it can be difficult to pinpoint a genetic cause. This observational study aimed to evaluate the utility of whole exome sequencing (WES) using an eye disorder gene panel in European patients with high myopia. Patients with high myopia were recruited by ophthalmologists and clinical geneticists. Clinical features were categorized into isolated high myopia, high myopia with other ocular involvement or with systemic involvement. WES was performed and an eye disorder gene panel of ~500 genes was evaluated. Hundred and thirteen patients with high myopia [mean (SD) refractive error − 11.8D (5.2)] were included. Of these, 53% were children younger than 12 years of age (53%), 13.3% were aged 12–18 years and 34% were adults (aged &gt; 18 years). Twenty-three out of 113 patients (20%) received a genetic diagnosis of which 11 patients displayed additional ocular or systemic involvement. Pathogenic variants were identified in retinal dystrophy genes (e.g. GUCY2D and CACNA1F), connective tissue disease genes (e.g. COL18A1 and COL2A1), non-syndromic high myopia genes (ARR3), ocular development genes (e.g. PAX6) and other genes (ASPH and CNNM4). In 20% of our high myopic study population, WES using an eye gene panel enabled us to diagnose the genetic cause for this disorder. Eye genes known to cause retinal dystrophy, developmental or syndromic disorders can cause high myopia without apparent clinical features of other pathology.
Ecological footprint of energy and waste generation for environmental sustainability in Ijebu Ode, Ogun State, Nigeria
Authors: Otto Edet , Sawyerr Henry 
Published: May 2022

Abstract
The aim of this study was to evaluate the Ecological Footprint of Energy and Waste generation in Ijebu Ode, and the study adopted descriptive cross-sectional design and data were collected from 400 systemically sampled households through structured questionnaires and analysed using descriptive statistics and inferential statistics. The findings revealed that water has the highest ecological footprint (EF) of 86.5%, followed by energy with 6.7%, while EF of food and waste had footprint of 4.8% and 1.9%, respectively, and with an average EF of 0.3gha/capita, it will require 0.2 Earths, should everyone in the world were to consume like Ijebu Ode.
A Draft Reference Genome Assembly of the Critically Endangered Black Abalone,Haliotis cracherodii
Authors: Orland Chloé , Escalona Merly , Sahasrabudhe Ruta , Marimuthu Mohan P A , Nguyen Oanh , Beraut Eric , Marshman Blythe , Moore James , Raimondi Peter , Shapiro Beth 
Published: May 2022

AbstractThe once abundant black abalone, Haliotis cracherodii, is a large, long-lived grazing marine mollusk that inhabits the rocky intertidal along the coast of California. The species has experienced dramatic declines since the mid-1980s largely due to the fatal bacterial disease called withering syndrome, leading to the collapse of an economically important fishery and to its inclusion into the IUCN listing as a critically endangered species. In some places impacted by the disease, populations of black abalone have declined by more than 90%, prompting population crashes associated with very little recruitment of new individuals and changes to intertidal communities. Habitats that were dominated by crustose coralline algae and bare rock have become dominated instead by fleshy algae and sessile invertebrates. Here, we present the first high-quality black abalone reference genome, assembled with PacBio HiFi long-reads and assembled with Dovetail Omni-C data to generate a scaffold-level assembly. The black abalone reference genome will be an essential resource in understanding the evolutionary history of this species as well as for exploring its current levels of genetic diversity and establishing future management and restoration plans.
The Montreal Cognitive Assessment (MoCA) in neuro-oncology: A pilot study of feasibility and utility in telehealth and in-person clinical assessments
Authors: Jammula Varna , Rogers James L , Vera Elizabeth , Christ Alexa , Leeper Heather E , Acquaye Alvina , Briceno Nicole , Choi Anna , Grajkowska Ewa , Levine Jason E , Lindsley Matthew , Reyes Jennifer , Roche Kayla N , Timmer Michael , Boris Lisa , Burton Eric , Lollo Nicole , Panzer Marissa , Smith-Cohn Matthew A , Penas-Prado Marta , Pillai Valentina , Theeler Brett J , Wu Jing , Gilbert Mark R , Armstrong Terri S 
Published: May 2022

Abstract

Background
Cognitive impairments are a common burden for patients with primary CNS tumors. Neuropsychological assessment batteries can be too lengthy, which limits their use as an objective measure of cognition during routine care. The purpose of this study was to evaluate the feasibility and utility of the brief Montreal Cognitive Assessment (MoCA) in routine in-person and telehealth visits (as a result of the global COVID-19 pandemic) with neuro-oncology patients.

Methods
Seventy-one adults with primary CNS tumors completed MoCA testing in person (n = 47) and via telehealth (n = 24). Correlation analysis and patient-reported outcomes (PROs), including symptom burden and interference, perceived cognition, general health status, and anxiety and depression, were included in this study. Feasibility was assessed through a provider satisfaction questionnaire.

Results
Patients were primarily White (83%), college-educated (71%) males (54%) with high-grade tumors (66%). The average total score on the MoCA administered in person was 25 (range: 6-30), with 34% classified as abnormal, and the average total score via telehealth was 26 (range: 12-30), with 29% classified as abnormal. Providers reported satisfaction in using the MoCA during routine clinical care, both in person and via telehealth. Lower MoCA scores correlated with worse symptom severity, KPS, age, education, and previous treatment.

Conclusions
The MoCA was feasible in clinical and telehealth settings, and its relationship to clinical characteristics and PROs highlights the need for both objective and patient-reported measures of cognition to understand the overall cognitive profile of a patient with a CNS tumor.
Adolescents’ Understanding of Smoking and Vaping Risk Language: Cognitive Interviews to Inform Scale Development
Authors: Kurtzman Rachel T , Vereen Rhyan N , Mendel Sheldon Jennifer , Adams Elizabeth T , Hall Marissa G , Brewer Noel T , Gottfredson Nisha C , Noar Seth M 
Published: May 2022

Abstract

Introduction
Perceived message effectiveness (PME) is a common metric to understand receptivity to tobacco prevention messages, yet most measures have been developed with adults. We examined adolescents’ interpretation of language within candidate items for a new youth-targeted PME measure using cognitive interviewing. We sought to understand the meaning adolescents assigned to our candidate PME items to improve item wording.

Aims and Methods
Participants were 20 adolescents, ages 13–17 years from the United States. Cognitive interviews used a structured guide to elicit feedback on comprehension, answer retrieval, and language regarding a set of Reasoned Action Approach-based survey items that assessed the PME of smoking and vaping prevention ads. We employed thematic analysis to synthesize findings from the interviews.

Results
Interviews identified three main issues related to survey items: ambiguity of language, word choice (risk and other terminology), and survey item phrasing. Adolescents preferred direct, definitive language over more ambiguous phrasing which they saw as less serious (eg, “will” instead of “could”). For risk terminology, they preferred terms such as “harmful” and “dangerous” over “risky,” which was viewed as easy to discount. The term “negative effects” was interpreted as encompassing a broader set of tobacco harms than “health effects.” Adolescents said that the term “vape” was preferable to “e-cigarette,” and identified ways to simplify item wording for greater clarity.

Conclusions
Tobacco risk terms that appear similar differ in meaning to adolescents, and more direct and unambiguous language is preferred. Our findings informed changes to the PME scale items to improve clarity and reduce measurement error.

Implications
This study adds to the literature on how adolescents interpret tobacco prevention language. Adolescents may interpret terminology differently than adults, which could lead to ambiguity in meaning and thus measurement error. Through cognitive interviewing, we identified and improved the language in a youth-focused PME measure for tobacco and vaping prevention.
Integrated population modeling identifies low duckling survival as a key driver of decline in a European population of the Mallard
Authors: Wiegers J N (Yannick) , Jongejans Eelke , van Turnhout Chris A M , van den Bremer Loes , van der Jeugd Henk , Kleyheeg Erik 
Published: May 2022

AbstractEurope’s highest densities of breeding Mallards (Anas platyrhynchos) are found in the Netherlands, but the breeding population there has declined by ~30% since the 1990s. The exact cause of this decline has remained unclear. Here, we used an integrated population model to jointly analyze Mallard population survey, nest survey, duckling survival, and band-recovery data. We used this approach to holistically estimate all relevant vital rates, including duckling survival rates for years for which no explicit data were available. Mean vital rate estimates were high for nest success (0.38 ± 0.01) and egg hatch rate (0.96 ± 0.001), but relatively low for clutch size (8.2 ± 0.05) compared to populations in other regions. Estimates for duckling survival rate for the three years for which explicit data were available were low (0.16–0.27) compared to historical observations, but were comparable to rates reported for other regions with declining populations. Finally, the mean survival rate was low for ducklings (0.18 ± 0.02), but high and stable for adults (0.71 ± 0.03). Population growth rate was only affected by variation in duckling survival, but since this is a predominantly latent state variable, this result should be interpreted with caution. However, it does strongly indicate that none of the other vital rates, all of which were supported by data, was able to sufficiently explain the population decline. Together with a comparison with historic vital rates, these findings point to a reduced duckling survival rate as the likely cause of the decline. Candidate drivers of reduced duckling survival are increased predation pressure and reduced food availability, but this requires future study. Integrated population modeling can provide valuable insights into population dynamics even when empirical data for a key parameter are partly missing.
MEDIATOR SUBUNIT17 integrates jasmonate and auxin signaling pathways to regulate thermomorphogenesis
Authors: Agrawal Rekha , Sharma Mohan , Dwivedi Nidhi , Maji Sourobh , Thakur Pallabi , Junaid Alim , Fajkus Jiří , Laxmi Ashverya , Thakur Jitendra K 
Published: May 2022

Abstract
Plant adjustment to environmental changes involves complex crosstalk between extrinsic and intrinsic cues. In the past two decades, extensive research has elucidated the key roles of PHYTOCHROME-INTERACTING FACTOR4 (PIF4) and the phytohormone auxin in thermomorphogenesis. In this study, we identified a previously unexplored role of jasmonate (JA) signaling components, the Mediator complex, and their integration with auxin signaling during thermomorphogenesis in Arabidopsis (Arabidopsis thaliana). Warm temperature induces expression of JA signaling genes including MYC2, but, surprisingly, this transcriptional activation is not JA dependent. Warm temperature also promotes accumulation of the JA signaling receptor CORONATINE INSENSITIVE1 (COI1) and degradation of the JA signaling repressor JASMONATE-ZIM-DOMAIN PROTEIN9, which probably leads to de-repression of MYC2, enabling it to contribute to the expression of MEDIATOR SUBUNIT17 (MED17). In response to warm temperature, MED17 occupies the promoters of thermosensory genes including PIF4, YUCCA8 (YUC8), INDOLE-3-ACETIC ACID INDUCIBLE19 (IAA19), and IAA29. Moreover, MED17 facilitates enrichment of H3K4me3 on the promoters of PIF4, YUC8, IAA19, and IAA29 genes. Interestingly, both occupancy of MED17 and enrichment of H3K4me3 on these thermomorphogenesis-related promoters are dependent on PIF4 (or PIFs). Altered accumulation of COI1 under warm temperature in the med17 mutant suggests the possibility of a feedback mechanism. Overall, this study reveals the role of the Mediator complex as an integrator of JA and auxin signaling pathways during thermomorphogenesis.
Long-distance translocation of CLAVATA3/ESR-related 2 peptide and its positive effect on roots sucrose status
Authors: Okamoto Satoru , Kawasaki Azusa , Makino Yumiko , Ishida Takashi , Sawa Shinichiro 
Published: May 2022

Abstract
In vascular plants, roots anchor themselves into the soil and take up water and nutrients to provide them to the shoots. Therefore, continuous growth and development of the roots are important for plant life. To achieve this, photosynthesizing leaves must be able to supply sufficient photoassimilates to the roots. However, the mechanisms by which plants maintain carbon levels in roots remain elusive. Here, we focused on the Arabidopsis (Arabidopsis thaliana) CLAVATA3/ESR-related 2 (CLE2) peptide, which was detected in Arabidopsis xylem exudate, and its homologs. CLE2 and CLE3 genes responded to carbon-deficient conditions. Loss- and gain-of-function mutant analyses showed that CLE genes positively affected root sucrose level. Mutations in the CLE genes resulted in a high shoot/root ratio under sucrose-free conditions. Grafting experiments demonstrated the systemic effect of CLE peptide genes. These findings provide insights into the molecular basis for the relationship between roots and leaves in maintenance of the root sucrose levels and growth.
Sleep architecture and regulation of male dusky antechinus, an Australian marsupial
Authors: Zaid Erika , Vyssotski Alexei L , Lesku John A 
Published: May 2022

Abstract

Study Objectives
In this study, we (1) describe sleep behavior and architecture, and (2) explore how sleep is regulated in dusky antechinus (Antechinus swainsonii), a small insectivorous marsupial. Our aim is to provide the first investigation into sleep homeostasis in a marsupial.

Methods
Wild-caught male dusky antechinus (n = 4) were individually housed in large indoor cages under a natural photoperiod of 10.5 h light/13.5 h dark. Continuous recordings of EEG, EMG, and tri-axial accelerometry were performed under baseline conditions and following 4-h of extended wakefulness.

Results
Antechinus engage in SWS and REM sleep. Some aspects of these states are mammal-like, including a high amount (23%) of REM sleep, but other features are reminiscent of birds, notably, hundreds of short sleep episodes (SWS mean: 34 s; REM sleep: 10 s). Antechinus are cathemeral and sleep equally during the night and day. Immediately after the sleep deprivation ended, the animals engaged in more SWS, longer SWS episodes, and greater SWS SWA. The animals did not recover lost REM sleep.

Conclusions
Sleep architecture in dusky antechinus was broadly similar to that observed in eutherian and marsupial mammals, but with interesting peculiarities. We also provided the first evidence of SWS homeostasis in a marsupial mammal.
Reference Standards for Cardiorespiratory Fitness in Brazil
Authors: Milani Mauricio , Milani Juliana Goulart Prata Oliveira , Cipriano Graziella França Bernardelli , de Castro Isac , Cipriano Junior Gerson 
Published: May 2022

Purpose:
This study aimed to propose reference standards for cardiorespiratory fitness (CRF) for Brazil from a pooled analysis and to compare peak oxygen uptake (V˙o
2peak) in Brazilian, United States (US), and Norwegian samples, exploring possible national and international differences.

Methods:
Reference values for treadmill V˙o
2peak in three different Brazilian regions were assessed from previous publications. We analyzed available samples to assess possible differences, generate weighted average data for Brazil, and compared them with US and Norwegian data.

Results:
Brazilian reference values had a lower V˙o
2peak value for the Northeast region and a higher V˙o
2peak value for the Southeast region for all sex and age groups. International comparisons with the Brazilian pooled data (n = 26661) revealed higher values for the Norwegian sample (n = 3810) and lower values for the US sample (n = 16278). The observed heterogeneity in CRF is possibly related to differences in anthropometric (weight, height) and socioeconomic factors, which differed among the samples. Also, Brazilian data showed a curvilinear V˙o
2peak age reduction trend rather than the linear characteristic commonly utilized, and the regression curves were different from those for US and Norwegian data.

Conclusion:
This study provides new CRF reference standards for Brazil. After pooling data from three Brazilian regions, a comparison revealed notable differences between regions, evidencing a negative gradient from Southern to Northern regions. Similarly, the international comparisons between Brazil, US, and Norway data revealed CRF heterogeneity, with differences in the V˙o
2peak values and in the age relationship patterns. These findings reinforce the importance of using national- or regional-specific V˙o
2peak reference values, ensuring proper CRF evaluation.
Cross-border network ties of returnee entrepreneurs and foreign market diversity
Authors: Li Haiyan , Wang Manman , Zhang Ruihan 
Published: May 2022

PurposeThis study examines the effect of cross-border network ties of returnee entrepreneurs on the foreign market diversity of their ventures. The study further investigates how two cross-cultural competencies (global mindset and cultural intelligence) moderate this effect.Design/methodology/approachA sample of 135 returnee entrepreneurial ventures from China was used to test the hypotheses.FindingsThis study finds that returnee entrepreneurs tend to enter into a wide range of culturally different country groups when returnee entrepreneurs have strong cross-border network ties. Moreover, global mindset and cultural intelligence function as complements in strengthening the effect of the cross-border network ties on foreign market diversity.Originality/valueThe authors contribute to both returnee entrepreneurship and foreign market entry literature in two ways. First, by examining the effect of cross-border network ties on foreign market entry, the authors add new and important insights into the role of social networks in the pre-internationalization phase. This is useful in understanding the internationalization process of new ventures founded by returnees, which have not been fully understood in returnee entrepreneurship literature. Second, by examining the moderating roles of global mindset and cultural intelligence, the authors enhance the understanding of the extent to which cross-border networks can be valuable in foreign market entry.