bluuebunny/crossref_metadata_2025_split huggingface dataset:
Compound variants of FKTN, POMGNT1, and LAMB1 gene identified by prenatal whole‐exome sequencing in three fetuses with congenital hydrocephalus
Authors: Li Meng , Fu Huayu , Li Jiao , Meng Dahua , Zhang Qiang , Fei Dongmei 
Published: July 2022

AbstractCongenital hydrocephalus (CH) is a severe birth defect, and genetics components is an important etiology. Whole‐exome sequencing (WES) has been proven to be a feasible approach for prenatal diagnosis of CH. In this study, we carried out WES on three fetuses with cerebral ventriculomegaly. After bioinformation analysis and data filtering, three compound variants, c.919C>T(p.Arg307Ter)/c.1100del(p.Phe369fs) in FKTN, c.1449_1450insACAACG/c.1490G>C(p.Arg497Pro) in POMGNT1, and c.2690+1G>A/c.1447C>T(p.Arg483Cys) in LAMB1 were detected in the three fetuses. All the six variants were classified as likely pathogenic or pathogenic in accordance with the American College of Medical Genetics and Genomics‐Association for Molecular Pathology guidelines. This study provides support for the potential of WES for the accurate prenatal diagnosis of fetal hydrocephalus and further demonstrated the genetic heterogeneity in patients with CH. The novel variants (c.1449_1450insACAACG and c.1490G>C in POMGNT1, c.2690+1G>A in LAMB1) expanded the gene mutational spectrum of CH and contributes to genetics counseling and pregnancy management.
How Social Structures Influence the Labour Market Participation of Individuals with Mental Illness: A Bourdieusian Perspective
Authors: Hennekam Sophie , Richard Sarah , Özbilgin Mustafa 
Published: July 2022

AbstractAdopting a Bourdieusian perspective, this paper examines the social structures that influence the labour market participation of individuals with mental illness. We draw on 257 qualitative surveys completed by individuals with diagnosed mental health conditions in Europe, North America, Oceania, Africa, and Asia. We employed thematic analysis to analyse the data. The findings reveal that the interplay of capital endowments, symbolic violence, habitus and illusio shape the labour market participation of individuals with mental illness. Capital endowments of individuals with mental illness are afforded less value in the labour market and these individuals internalize, legitimize and normalize their disadvantaged position, blaming themselves rather than questioning the social structures leading to the challenges they encounter. We highlight that social structures condition the opinion these individuals have of themselves and how this affects how they navigate the labour market. In sum, we show that Bourdieu's concepts provide a useful lens to study inequalities in the labour market, as they reveal the social structures that produce, sustain and reinforce the social order that disadvantages individuals with mental illness.
Effect of masseter muscle mass on the rate of experimental tooth movement in rats
Authors: Arizono‐Shimada Keira , Hotokezaka Hitoshi , Morita Yukiko , Ino‐Kondo Airi , Ueda‐Ichinose Yuika , Nashiro Yukako , Hotokezaka Yuka , Yoshimi Keiko , Kiliaridis Stavros , Yoshida Noriaki 
Published: July 2022

AbstractBackgroundPrevious clinical observational studies have suggested that orthodontic tooth movement (OTM) is related, at least partly, to the mass and/or capabilities of the masticatory muscles.ObjectivesOur study aimed to examine the influence of masticatory muscle mass on the OTM in an animal experimental model in which the masseter muscle was modulated by botulinum neurotoxin type A (BTX) injection.MethodsEighteen Wistar rats were equally divided into two groups: BTX injection and control. BTX was injected bilaterally into the masseter muscles. Three days after the injection, the maxillary left first molars were orthodontically moved for 14 days. At the end of the experiment, micro‐computed tomography was performed to evaluate the rate of OTM and bone morphometry. The masseter muscles were weighed and prepared for histological analyses.ResultsThe masseter muscle mass in the BTX group was less than that in the control group, and histological findings showed atrophy of muscle fibres. The rate of OTM was significantly higher in the BTX group than in the control group. Furthermore, a negative correlation was detected between masseter muscle mass and OTM in the BTX group. Bone morphometry showed no difference between the control and BTX groups.ConclusionDecreased masseter muscle mass was found to be closely related to an increase in the rate of OTM in rats using BTX injection to modify the masseter muscle mass. Masseter muscle mass could be a predictive factor for OTM in rats injected with BTX.
From Play to Language: Infants’ Actions on Objects Cascade to Word Learning
Authors: Suarez‐Rivera Catalina , Linn Emily , Tamis‐LeMonda Catherine S. 
Published: July 2022

AbstractInfants build knowledge by acting on the world. We conducted an ecologically grounded test of an embodied learning hypothesis: that infants’ active engagement with objects in the home environment elicits caregiver naming and cascades to learning object names. Our home‐based study extends laboratory‐based theories to identify real‐world processes that support infant word learning. Frame‐by‐frame coding of 2‐hr video recordings of 32 mothers and their 18‐ to 23‐month‐old infants focused on infant manipulation and mother and infant naming of 245 unique objects. Objects manipulated by infants and/or named by mothers were more likely to appear in infants’ vocabularies and spontaneous speech relative to nonmanipulated objects and objects that mothers did not name. Furthermore, the vocabularies of 5,520 infants hosted on Wordbank revealed an early age of acquisition of words for objects that mothers named and infants manipulated. Infants actively build object–word mappings from everyday engagements with objects in the context of social interactions.
Longitudinal Predictors of Listening Comprehension in Bilingual Primary School‐Aged Children
Authors: Valentini Alessandra , Serratrice Ludovica 
Published: July 2022

AbstractResearch on monolingual children has shown that listening comprehension is predicted by a range of language and cognitive skills; less is known about predictors of listening comprehension in bilingual children and about the role of language input. This study presents longitudinal data on predictors of English listening comprehension in 100 bilingual children between the ages of 5;8 and 6;8 years. The children were tested three times on their literal and inferential comprehension of stories. Vocabulary, morphosyntax, attention, and memory were included as predictors of listening comprehension alongside a measure of English input. The children showed growth over time in both literal questions and global inference questions, with performance on local inferences remaining stable over time. Vocabulary depth and morphological knowledge explained listening comprehension abilities in all types of questions, but not their growth; that is, all children improved in comprehension over time regardless of their initial morphological and vocabulary depth skills. English input had a mediated effect on listening comprehension via morphological knowledge and vocabulary depth, but no direct effect.
Deep convolutional neural networks for onychomycosis detection using microscopic images with KOH examination
Authors: Yilmaz Abdurrahim , Göktay Fatih , Varol Rahmetullah , Gencoglan Gulsum , Uvet Huseyin 
Published: July 2022

AbstractBackgroundThe diagnosis of superficial fungal infections is still mostly based on direct microscopic examination with potassium hydroxide solution. However, this method can be time consuming, and its diagnostic accuracy rates vary widely depending on the clinician's experience.ObjectivesThis study presents a deep neural network structure that enables the rapid solutions for these problems and can perform automatic fungi detection in grayscale images without dyes.MethodsOne hundred sixty microscopic full field photographs containing the fungal element, obtained from patients with onychomycosis, and 297 microscopic full field photographs containing dissolved keratin obtained from normal nails were collected. Smaller patches containing fungi (n = 1835) and keratin (n = 5238) were extracted from these full field images. In order to detect fungus and keratin, VGG16 and InceptionV3 models were developed by the use of these patches. The diagnostic performance of models was compared with 16 dermatologists by using 200 test patches.ResultsFor the VGG16 model, the InceptionV3 model and 16 dermatologists, mean accuracy rates were 88.10 ± 0.8%, 88.78 ± 0.35% and 74.53 ± 8.57%, respectively; mean sensitivity rates were 75.04 ± 2.73%, 74.93 ± 4.52% and 74.81 ± 19.51%, respectively; and mean specificity rates were 92.67 ± 1.17%, 93.78 ± 1.74% and 74.25 ± 18.03%, respectively. The models were statistically superior to dermatologists according to rates of accuracy and specificity but not to sensitivity (p < .0001, p < .005 and p > .05, respectively). Area under curve values of the VGG16 and InceptionV3 models were 0.9339 and 0.9292, respectively.ConclusionOur research demonstrates that it is possible to build an automated system capable of detecting fungi present in microscopic images employing the proposed deep learning models. It has great potential for fungal detection applications based on AI.
Green natural nail polish modified with essential oils to treat onychomycosis
Authors: Di Vito Maura , Scafuro Claudia , Mariotti Melinda , Garzoli Stefania , Torelli Riccardo , Zhiri Abdesselam , Sanguinetti Maurizio , Bugli Francesca 
Published: July 2022

AbstractBackgroundOnychomycosis (OM) accounts for about 50% of nail disorders in industrialised countries. Essential oils (EOs), aromatic natural compounds, are known for their antimicrobial activity.ObjectiveThe aim of this work was to evaluate the antifungal efficacy of seven EOs and a commercial MIX against 10 dermatophytes responsible for OM to select the most effective ones to be included in a preventive or curative formulation based on a green natural nail polish (GNNP).MethodsMicro‐broth dilution tests in line with EUCAST guidelines and olfactory satisfaction test were performed to select the best natural compounds previously analysed by SPME coupled with GC‐MS. The same method was used to evaluate the release over time of the active compounds present in the two modified‐GNNPs made by adding the best natural compound selected (the C. citratus EO) and the MIX. Furthermore, to evaluate the preventive and curative activity of modified‐GNNPs, ex vivo experiments on healthy or colonised nails were performed.Results and ConclusionsData showed that MIX‐modified‐GNNP had preventive activity as it inhibits the fungal growth by releasing its active ingredients for 7 days, while the OE‐modified GNNP acts as a natural drug showing cytocidal activity on nails colonised by dermatophytes, but it requires two weekly applications.
Interplay between R2R3 MYB‐type activators and repressors regulates proanthocyanidin biosynthesis in banana (Musa acuminata)
Authors: Rajput Ruchika , Naik Jogindra , Stracke Ralf , Pandey Ashutosh 
Published: July 2022

Summary

Proanthocyanidins are oligomeric flavonoids that promote plant disease resistance and benefit human health. Banana is one of the world's most extensively farmed crops and its fruit pulp contain proanthocyanidins. However, the transcriptional regulatory network that fine tunes proanthocyanidin biosynthesis in banana remains poorly understood.

We characterised two proanthocyanidin‐specific R2R3 MYB activators (MaMYBPA1–MaMYBPA2) and four repressors (MaMYBPR1–MaMYBPR4) to elucidate the mechanisms underlying the transcriptional regulation of proanthocyanidin biosynthesis in banana.

Heterologous expression of MaMYBPA1 and MaMYBPA2 partially complemented the Arabidopsis thaliana proanthocyanidin‐deficient transparent testa2 mutant. MaMYBPA1 and MaMYBPA2 interacted physically with MaMYCs to transactivate anthocyanin synthase, leucoanthocyanidin reductase, and anthocyanidin reductase genes in vitro and form functional MYB–bHLH–WD Repeat (MBW) complexes with MaTTG1 to transactivate these promoters in vivo.

Overexpression of MaMYBPAs alone or with MaMYC in banana fruits induced proanthocyanidin accumulation and transcription of proanthocyanidin biosynthesis‐related genes. MaMYBPR repressors are also shown to interact with MaMYCs forming repressing MBW complexes, and diminished proanthocyanidin accumulation. Interestingly overexpression of MaMYBPA induces the expression of MaMYBPR, indicating an agile regulation of proanthocyanidin biosynthesis through the formation of competitive MBW complexes. Our results reveal regulatory modules of R2R3 MYB‐ that fine tune proanthocyanidin biosynthesis and offer possible targets for genetic manipulation for nutritional improvement of banana.
The additional PRC2 subunit and Sin3 histone deacetylase complex are required for the normal distribution of H3K27me3 occupancy and transcriptional silencing in Magnaporthe oryzae
Authors: Lin Chuyu , Wu Zhongling , Shi Huanbin , Yu Jinwei , Xu Mengting , Lin Fucheng , Kou Yanjun , Tao Zeng 
Published: July 2022

Summary

Development in higher organisms requires proper gene silencing, partially achieved through trimethylation of lysine 27 on histone H3 (H3K27me3). However, how the normal distribution of this modification is established and maintained and how it affects gene expression remains unclear, especially in fungi. Polycomb repressive complex 2 (PRC2) catalyses H3K27me3 to assemble transcriptionally repressed facultative heterochromatin and is crucial in animals, plants, and fungi.

Here, we report on the critical role of an additional PRC2 subunit in the normal distribution of H3K27me3 occupancy and the stable maintenance of gene repression in the rice fungal pathogen Magnaporthe oryzae. P55, identified as an additional PRC2 subunit, is physically associated with core subunits of PRC2 and is required for a complete level of H3K27me3 modification.

Loss of P55 caused severe global defects in the normal distribution of H3K27me3 and transcriptional reprogramming on the H3K27me3‐occupied genes. Furthermore, we found that the Sin3 histone deacetylase complex was required to sustain H3K27me3 occupancy and stably maintain gene repression by directly interacting with P55.

Our results revealed a novel mechanism by which P55 and Sin3 participate in the normal distribution of facultative heterochromatic modifications and the stable maintenance of gene repression in eukaryotes.
Impact of warmer and drier conditions on tree photosynthetic properties and the role of species interactions
Authors: Didion‐Gency Margaux , Gessler Arthur , Buchmann Nina , Gisler Jonas , Schaub Marcus , Grossiord Charlotte 
Published: July 2022

Summary

Increased temperature and prolonged soil moisture reduction have distinct impacts on tree photosynthetic properties. Yet, our knowledge of their combined effect is limited. Moreover, how species interactions alter photosynthetic responses to warming and drought remains unclear.

Using mesocosms, we studied how photosynthetic properties of European beech and downy oak were impacted by multi‐year warming and soil moisture reduction alone or combined, and how species interactions (intra‐ vs inter‐specific interactions) modulated these effects.

Warming of +5°C enhanced photosynthetic properties in oak but not beech, while moisture reduction decreased them in both species. Combined warming and moisture reduction reduced photosynthetic properties for both species, but no exacerbated effects were observed. Oak was less impacted by combined warming and limited moisture when interacting with beech than in intra‐specific stands. For beech, species interactions had no impact on the photosynthetic responses to warming and moisture reduction, alone or combined.

Warming had either no or beneficial effects on the photosynthetic properties, while moisture reduction and their combined effects strongly reduced photosynthetic responses. However, inter‐specific interactions mitigated the adverse impacts of combined warming and drought in oak, thereby highlighting the need to deepen our understanding of the role of species interactions under climate change.
Phylogenetic distribution and expression pattern analyses identified a divergent basal body assembly protein involved in land plant spermatogenesis
Authors: Koshimizu Shizuka , Minamino Naoki , Nishiyama Tomoaki , Yoro Emiko , Sato Mayuko , Wakazaki Mayumi , Toyooka Kiminori , Ebine Kazuo , Sakakibara Keiko , Ueda Takashi , Yano Kentaro 
Published: July 2022

Summary

Land plant spermatozoids commonly possess characteristic structures such as the spline, which consists of a microtubule array, the multilayered structure (MLS) in which the uppermost layer is a continuum of the spline, and multiple flagella. However, the molecular mechanisms underpinning spermatogenesis remain to be elucidated.

We successfully identified candidate genes involved in spermatogenesis, deeply divergent BLD10s, by computational analyses combining multiple methods and omics data. We then examined the functions of BLD10s in the liverwort Marchantia polymorpha and the moss Physcomitrium patens.

MpBLD10 and PpBLD10 are required for normal basal body (BB) and flagella formation. Mpbld10 mutants exhibited defects in remodeling of the cytoplasm and nucleus during spermatozoid formation, and thus MpBLD10 should be involved in chromatin reorganization and elimination of the cytoplasm during spermiogenesis.

We identified orthologs of MpBLD10 and PpBLD10 in diverse Streptophyta and found that MpBLD10 and PpBLD10 are orthologous to BLD10/CEP135 family proteins, which function in BB assembly. However, BLD10s evolved especially quickly in land plants and MpBLD10 might have acquired additional functions in spermatozoid formation through rapid molecular evolution.
Floral and reproductive traits are an independent dimension within the plant economic spectrum of temperate central Europe
Authors: E‐Vojtkó Anna , Junker Robert R. , de Bello Francesco , Götzenberger Lars 
Published: July 2022

Summary

Major dimensions of plant ecological strategies have been widely studied bringing forward the concept of ‘economic spectra’ of plants. Sexual reproductive traits, ‘floral traits’, have been largely neglected in this context, despite their strong link to fitness. Here, we aimed at integrating floral traits into the dimensionality of plant form and function so far dominated by vegetative traits.

We used principal component analyses and constructed trait networks to assess the correlation structure of leaf, belowground, plant size‐related, and floral traits. We studied forbs within two independent datasets; one compiled from central European trait databases and one sampled in the Austrian Alps.

Floral traits defined the second dimension of trait variability within both datasets, while plant size determined the first dimension. Floral traits were largely independent from the leaf economic spectrum. Flower size, however, positively scaled with plant size and leaf size. Mating system was the most well‐connected trait across modules of plant tissue/organ types. The independence of floral traits was consistent also after accounting for phylogenetic relationships between species.

Floral traits explained a unique part of the variation in plant form and function and thus, likely play a distinctive ecological role within the whole plant economic spectrum.
Mitotically heritable epigenetic modifications of CmMYB6 control anthocyanin biosynthesis in chrysanthemum
Authors: Tang Mingwei , Xue Wanjie , Li Xueqi , Wang Lishan , Wang Min , Wang Wanpeng , Yin Xue , Chen Bowei , Qu Xueting , Li Jingyao , Wu Yi , Gao Xinyu , Wei Xiaofeng , Bu Fanqi , Zhang Lingyu , Sui Zhuoran , Ding Bing , Wang Yu , Zhang Qingzhu , Li Yuhua , Zhang Yang 
Published: July 2022

Summary

Flower color, which is determined by various chemical pigments, is a vital trait for ornamental plants, in which anthocyanin is a major component. However, the epigenetic regulation of anthocyanin biosynthesis remains poorly understood.

During chrysanthemum cultivation, we found a heterochromatic chrysanthemum accession (YP) whose progeny generated by asexual reproduction contained both yellow‐flowered (YP‐Y) and pink‐flowered (YP‐P) plants. In this study, we aimed to elucidate the epigenetic mechanisms of different flower colors in the YP plant progeny.

Metabolome and transcriptome analyses revealed that the difference in flower color between YP‐Y and YP‐P was caused by expression variation of the anthocyanin biosynthesis gene CmMYB6. Bisulfite sequencing revealed that methylation at the CmMYB6 promoter, especially in the CHH context, was higher in YP‐Y than YP‐P. After demethylation of the CmMYB6 promoter using the dCas9‐TET1cd system, the flower color returned from yellow to pink.

Furthermore, the methylation status of the CmMYB6 promoter was higher in YP‐Y over three consecutive generations, indicating that this methylation status was heritable mitotically. Finally, investigation of other chrysanthemum cultivars showed that the methylation of CmMYB6 decreased gradually with the increase in anthocyanin content. These results lay an epigenetic foundation for the improvement of flower color in horticultural plants.
Noninvasive diagnosis of oral squamous cell carcinoma by multi‐level deep residual learning on optical coherence tomography images
Authors: Yuan Wei , Yang Jinsuo , Yin Boya , Fan Xingyu , Yang Jing , Sun Haibin , Liu Yanbin , Su Ming , Li Sen , Huang Xin 
Published: July 2022

AbstractBackgroundOral Squamous Cell Carcinoma (OSCC) is one of the most severe cancers in the world, and its early detection is crucial for saving patients. There is an inevitable necessity to develop the automatic noninvasive OSCC diagnosis approach to identify the malignant tissues on Optical Coherence Tomography (OCT) images.MethodsThis study presents a novel Multi‐Level Deep Residual Learning (MDRL) network to identify malignant and benign(normal) tissues from OCT images and trains the network in 460 OCT images captured from 37 patients. The diagnostic performances are compared with different methods in the image‐level and the resected patch‐level.ResultsThe MDRL system achieves the excellent diagnostic performance, with 91.2% sensitivity, 83.6% specificity, 87.5% accuracy, 85.3% PPV, and 90.2% NPV in image‐level, with 0.92 AUC value. Besides, it also implements 100% sensitivity, 86.7% specificity, 93.1% accuracy, 87.5% PPV, and 100% NPV in the resected patch‐level.ConclusionThe developed deep learning system expresses superior performance in noninvasive oral squamous cell carcinoma diagnosis, compared with traditional CNNs and a specialist.