bluuebunny/crossref_metadata_2025_split huggingface dataset:
Novel lissencephaly-associated NDEL1 variant reveals distinct roles of NDE1 and NDEL1 in nucleokinesis and human cortical malformations
Authors: Tsai Meng-Han , Ke Hao-Chen , Lin Wan-Cian , Nian Fang-Shin , Huang Chia-Wei , Cheng Haw-Yuan , Hsu Chi-Sin , Granata Tiziana , Chang Chien-Hui , Castellotti Barbara , Lin Shin-Yi , Doniselli Fabio M. , Lu Cheng-Ju , Franceschetti Silvana , Ragona Francesca , Hou Pei-Shan , Canafoglia Laura , Tung Chien-Yi , Lee Mei-Hsuan , Wang Won-Jing , Tsai Jin-Wu 
Published: January 2024

AbstractThe development of the cerebral cortex involves a series of dynamic events, including cell proliferation and migration, which rely on the motor protein dynein and its regulators NDE1 and NDEL1. While the loss of function in NDE1 leads to microcephaly-related malformations of cortical development (MCDs), NDEL1 variants have not been detected in MCD patients. Here, we identified two patients with pachygyria, with or without subcortical band heterotopia (SBH), carrying the same de novo somatic mosaic NDEL1 variant, p.Arg105Pro (p.R105P). Through single-cell RNA sequencing and spatial transcriptomic analysis, we observed complementary expression of Nde1/NDE1 and Ndel1/NDEL1 in neural progenitors and post-mitotic neurons, respectively. Ndel1 knockdown by in utero electroporation resulted in impaired neuronal migration, a phenotype that could not be rescued by p.R105P. Remarkably, p.R105P expression alone strongly disrupted neuronal migration, increased the length of the leading process, and impaired nucleus–centrosome coupling, suggesting a failure in nucleokinesis. Mechanistically, p.R105P disrupted NDEL1 binding to the dynein regulator LIS1. This study identifies the first lissencephaly-associated NDEL1 variant and sheds light on the distinct roles of NDE1 and NDEL1 in nucleokinesis and MCD pathogenesis.
Head-to-head study of diagnostic accuracy of plasma and cerebrospinal fluid p-tau217 versus p-tau181 and p-tau231 in a memory clinic cohort
Authors: Mendes Augusto J. , Ribaldi Federica , Lathuiliere Aurelien , Ashton Nicholas J. , Janelidze Shorena , Zetterberg Henrik , Scheffler Max , Assal Frédéric , Garibotto Valentina , Blennow Kaj , Hansson Oskar , Frisoni Giovanni B. 
Published: January 2024

Abstract
Background and objective
Phosphorylated tau (p-tau) 217 has recently received attention because it seems more reliable than other p-tau variants for identifying Alzheimer’s disease (AD) pathology. Thus, we aimed to compare the diagnostic accuracy of plasma and CSF p-tau217 with p-tau181 and p-tau231 in a memory clinic cohort.

Methods
The study included 114 participants (CU = 33; MCI = 67; Dementia = 14). The p-tau variants were correlated versus continuous measures of amyloid (A) and tau (T)-PET. The p-tau phospho-epitopes were assessed through: (i) effect sizes (δ) between diagnostic and A ± and T ± groups; (ii) receiver operating characteristic (ROC) analyses in A-PET and T-PET.

Results
The correlations between both plasma and CSF p-tau217 with A-PET and T-PET (r range 0.64–0.83) were stronger than those of p-tau181 (r range 0.44–0.79) and p-tau231 (r range 0.46–0.76). Plasma p-tau217 showed significantly higher diagnostic accuracy than p-tau181 and p-tau231 in (i) differences between diagnostic and biomarker groups (δrange: p-tau217 = 0.55–0.96; p-tau181 = 0.51–0.67; p-tau231 = 0.53–0.71); (ii) ROC curves to identify A-PET and T-PET positivity (AUCaverage: p-tau217 = 0.96; p-tau181 = 0.76; p-tau231 = 0.79). On the other hand, CSF p-tau217 (AUCaverage = 0.95) did not reveal significant differences in A-PET and T-PET AUC than p-tau181 (AUCaverage = 0.88) and p-tau231 (AUCaverage = 0.89).

Discussion
Plasma p-tau217 demonstrated better performance in the identification of AD pathology and clinical phenotypes in comparison with other variants of p-tau in a memory clinic cohort. Furthermore, p-tau217 had comparable performance in plasma and CSF. Our findings suggest the potential of plasma p-tau217 in the diagnosis and screening for AD, which could allow for a decreased use of invasive biomarkers in the future.
OsNAC103, an NAC transcription factor negatively regulates plant height in rice
Authors: Li Yan , Zhao Liming , Guo Chiming , Tang Ming , Lian Wenli , Chen Siyu , Pan Yuehan , Xu Xiaorong , Luo Chengke , Yi Yin , Cui Yuchao , Chen Liang 
Published: January 2024

Abstract
Main conclusion
OsNAC103 negatively regulates rice plant height by influencing the cell cycle and crosstalk of phytohormones.

Abstract
Plant height is an important characteristic of rice farming and is directly related to agricultural yield. Although there has been great progress in research on plant growth regulation, numerous genes remain to be elucidated. NAC transcription factors are widespread in plants and have a vital function in plant growth. Here, we observed that the overexpression of OsNAC103 resulted in a dwarf phenotype, whereas RNA interference (RNAi) plants and osnac103 mutants showed no significant difference. Further investigation revealed that the cell length did not change, indicating that the dwarfing of plants was caused by a decrease in cell number due to cell cycle arrest. The content of the bioactive cytokinin N6-Δ2-isopentenyladenine (iP) decreased as a result of the cytokinin synthesis gene being downregulated and the enhanced degradation of cytokinin oxidase. OsNAC103 overexpression also inhibited cell cycle progression and regulated the activity of the cell cyclin OsCYCP2;1 to arrest the cell cycle. We propose that OsNAC103 may further influence rice development and gibberellin–cytokinin crosstalk by regulating the Oryza sativa homeobox 71 (OSH71). Collectively, these results offer novel perspectives on the role of OsNAC103 in controlling plant architecture.
Clustering the cortical laminae: in vivo parcellation
Authors: Shamir Ittai , Assaf Yaniv , Shamir Ron 
Published: January 2024

AbstractThe laminar microstructure of the cerebral cortex has distinct anatomical characteristics of the development, function, connectivity, and even various pathologies of the brain. In recent years, multiple neuroimaging studies have utilized magnetic resonance imaging (MRI) relaxometry to visualize and explore this intricate microstructure, successfully delineating the cortical laminar components. Despite this progress, T1 is still primarily considered a direct measure of myeloarchitecture (myelin content), rather than a probe of tissue cytoarchitecture (cellular composition). This study aims to offer a robust, whole-brain validation of T1 imaging as a practical and effective tool for exploring the laminar composition of the cortex. To do so, we cluster complex microstructural cortical datasets of both human (N = 30) and macaque (N = 1) brains using an adaptation of an algorithm for clustering cell omics profiles. The resulting cluster patterns are then compared to established atlases of cytoarchitectonic features, exhibiting significant correspondence in both species. Lastly, we demonstrate the expanded applicability of T1 imaging by exploring some of the cytoarchitectonic features behind various unique skillsets, such as musicality and athleticism.
Prognostic and diagnostic utility of interleukin-6 in pediatric pulmonary arterial hypertension — a case-control study
Authors: Megied Mohamed Abdallah Abd El , Abouelhassan Mohammed Ahmed , Hadwa Eman Saad Abd El Salam 
Published: January 2024

AbstractPulmonary arterial hypertension (PAH) in pediatrics is a progressive disease with significant vascular remodeling, right sided heart failure, and death if left untreated. Elevated interleukin-6 (IL-6) level in PAH patients is taken as an independent predictor of adverse outcome including mortality. The aim of this study was to investigate and compare serum levels of IL-6 in children with PAH and healthy matched controls, and correlate between IL-6 and degree of PAH, as well as mortality. IL-6 was measured by ELISA in serum samples in 40 children with PAH (age 1–12 years) and 40 age and sex-matched healthy controls. There was a statistically significant increase in IL-6 level among PAH cases compared with the controls (1.85 ng/L vs 1.30 ng/L, p-value = 0.004). IL-6 at cut off point 1.45 ng/L significantly predict pulmonary hypertension in children (AUC = 0.685, 75% sensitivity, and 65% specificity with p = 0.002). There was no statistically significant association between IL-6 level and degree of PAH (p = 0.218). There was no statistically significant association between IL-6 level and mortality (p = 0.662). Conclusion: IL-6 significantly predict PAH in pediatrics but there is no association between IL-6 level and degree of PAH or mortality. IL-6 may provide a less costly and less invasive method for disease detection.

What is Known:• Definitive diagnosis of PAH is made by right heart catheterization, while echocardiography is the gold standard for tracking the course of the disease.

What is New:• It was assumed that children with a diagnosis of PAH would have higher serum IL-6 levels than controls. Furthermore, an adverse relationship between the blood IL-6 level and PPAH was predicted.
NUDT21 interacts with NDUFS2 to activate the PI3K/AKT pathway and promotes pancreatic cancer pathogenesis
Authors: Huang Xiao-Dong , Chen Yong-Wei , Tian Lv , Du Li , Cheng Xiao-Chen , Lu Yu-Xin , Lin Dong-Dong , Xiao Feng-Jun 
Published: January 2024

Abstract
Background
NUDT21 (Nudix Hydrolase 21) has been shown to play an essential role in multiple biological processes. Pancreatic adenocarcinoma (PAAD) is one of the most fatal cancers in the world. However, the biological function of NUDT21 in PAAD remains rarely understood. The aim of this research was to identify the prediction value of NUDT21 in diagnosis, prognosis, immune infiltration, and signal pathway in PAAD.

Methods
Combined with the data in online databases, we analyzed the expression, immune infiltration, function enrichment, signal pathway, diagnosis, and prognosis of NUDT21 in PAAD. Then, the biological function of NUDT21 and its interacted protein in PAAD was identified through plasmid transduction system and protein mass spectrometry. Expression of NUDT21 was further verified in clinical specimens by immunofluorescence.

Results
We found that NUDT21 was upregulated in PAAD tissues and was significantly associated with the diagnosis and prognosis of pancreatic cancer through bioinformatic data analysis. We also found that overexpression of NUDT21 enhanced PAAD cells proliferation and migration, whereas knockdown NUDT21 restored the effects through in vitro experiment. Moreover, NDUFS2 was recognized as a potential target of NUDT21.We further verified that the expression of NDUFS2 was positively correlated with NUDT21 in PAAD clinical specimens. Mechanically, we found that NUDT21 stabilizes NDUFS2 and activates the PI3K-AKT signaling pathway.

Conclusion
Our investigation reveals that NUDT21 is a previously unrecognized oncogenic factor in the diagnosis, prognosis, and treatment target of PAAD, and we suggest that NUDT21 might be a novel therapeutic target in PAAD.
Detection of tick-borne bacterial DNA (Rickettsia sp.) in reptile ticks Amblyomma moreliae from New South Wales, Australia
Authors: Kim Michelle Misong , Shea Glenn , Šlapeta Jan 
Published: January 2024

AbstractTicks are major arthropod vectors of disease, transmitting tick-borne pathogens during blood meal episodes. Rickettsia spp. and Borrelia spp. are two tick-borne pathogens of zoonotic concern previously identified in DNA isolates from the tick genera Amblyomma and Bothriocroton associated with reptilian hosts in Australia. Some reports suggest that these reptile ticks bite and attach to humans via accidental parasitism and transmit disease, with the tick Bothriocroton hydrosauri known to transmit Rickettsia honei or Flinders Island Spotted Fever Rickettsia to humans. This descriptive study aims to identify the ticks collected from wild reptiles submitted to veterinary clinics and captured by snake rescuers from New South Wales (NSW), Australia, and detect the presence of tick-borne bacterial DNA using quantitative polymerase chain reaction (qPCR) to detect Rickettsia spp. and Bartonella spp. and conventional nested-PCR to detect Borrelia spp. Morphological identification revealed ticks removed from one eastern blue-tongued lizard (Tiliqua scincoides scincoides) from North-Eastern NSW (Lismore), one eastern blue-tongued lizard from the Greater Sydney area (Canley Heights), one diamond python (Morelia spilota spilota) from the Greater Sydney area (Woronora Heights) and one red-bellied black snake (Pseudechis porphyriacus) from the Greater Sydney Area (Cronulla) in New South Wales were Amblyomma moreliae. No ticks were positive for Bartonella spp. and Borrelia spp. DNA using real-time PCR targeting ssrA gene and nested PCR targeting Borrelia-specific 16S rRNA gene, respectively. Real-time PCR targeting gltA, ompA, ompB and 17kDa gene of Rickettsia spp. revealed 14 out of 16 ticks were positive. The undescribed Rickettsia sp. DNA was identical to that previously recovered from reptile ticks in Australia and closely related to Rickettsia tamurae and Rickettsia monacensis, both of which are aetiologic pathogens of the Spotted Fever Group Rickettsiosis (SFGR). These results accentuate the ongoing need for increased study efforts to understand zoonotic potential of bacteria from reptile ticks and the tick-reptile-human relationship.
A general framework of high-performance machine learning algorithms: application in structural mechanics
Authors: Markou George , Bakas Nikolaos P. , Chatzichristofis Savvas A. , Papadrakakis Manolis 
Published: January 2024

AbstractData-driven models utilizing powerful artificial intelligence (AI) algorithms have been implemented over the past two decades in different fields of simulation-based engineering science. Most numerical procedures involve processing data sets developed from physical or numerical experiments to create closed-form formulae to predict the corresponding systems’ mechanical response. Efficient AI methodologies that will allow the development and use of accurate predictive models for solving computational intensive engineering problems remain an open issue. In this research work, high-performance machine learning (ML) algorithms are proposed for modeling structural mechanics-related problems, which are implemented in parallel and distributed computing environments to address extremely computationally demanding problems. Four machine learning algorithms are proposed in this work and their performance is investigated in three different structural engineering problems. According to the parametric investigation of the prediction accuracy, the extreme gradient boosting with extended hyper-parameter optimization (XGBoost-HYT-CV) was found to be more efficient regarding the generalization errors deriving a 4.54% residual error for all test cases considered. Furthermore, a comprehensive statistical analysis of the residual errors and a sensitivity analysis of the predictors concerning the target variable are reported. Overall, the proposed models were found to outperform the existing ML methods, where in one case the residual error was decreased by 3-fold. Furthermore, the proposed algorithms demonstrated the generic characteristic of the proposed ML framework for structural mechanics problems.
Comparative evaluation of performances of algae indices, pixel- and object-based machine learning algorithms in mapping floating algal blooms using Sentinel-2 imagery
Authors: Colkesen Ismail , Ozturk Muhammed Yusuf , Altuntas Osman Yavuz 
Published: January 2024

AbstractOne of the main threats to freshwater resources is pollution from anthropogenic activities such as rapid urbanization and excessive agricultural nutrient runoff. Remote sensing technologies have been effectively used in monitoring and mapping rapid changes in the marine environment and assessing the overall health of freshwater ecosystems. The main goal of this study is to comparatively evaluate the performance of index-based and classification-based approaches in mapping dense floating algal blooms observed in Lake Burdur using Sentinel-2 imagery. For index-based mapping, algae-specific indices, namely the Floating Algae Index (FAI), Adjusted Floating Algae Index, Surface Algal Blooms Index (SABI), and Algal Blooms Detection Index (ABDI), were used. At the same time, pixel- and object-based Random Forest (RF), eXtreme Gradient Boosting (XGBoost), and Long Short-Term Memory Network (LSTM) were utilized for classification-based algal mapping. For this purpose, seven Sentinel-2 images, selected through time series analysis performed on the Google Earth Engine platform, were used as the primary dataset in the application. The results show that high-density floating algae formations can be detected over 99% by both indices and classification-based approaches, whereas pixel-based classification is more successful in mapping low-density algal blooms. When two-class thematic maps representing water and floating algae classes were considered, the maps produced by index-based FAI using an appropriate threshold value and the classification-based RF algorithm reached an overall accuracy of over 99%. The highest algae density in the lake was observed on July 13, 2021, and was determined to be effective in ~ 45 km2 of the lake’s surface.
Multimodal fusion for audio-image and video action recognition
Authors: Shaikh Muhammad Bilal , Chai Douglas , Islam Syed Mohammed Shamsul , Akhtar Naveed 
Published: January 2024

AbstractMultimodal Human Action Recognition (MHAR) is an important research topic in computer vision and event recognition fields. In this work, we address the problem of MHAR by developing a novel audio-image and video fusion-based deep learning framework that we call Multimodal Audio-Image and Video Action Recognizer (MAiVAR). We extract temporal information using image representations of audio signals and spatial information from video modality with the help of Convolutional Neutral Networks (CNN)-based feature extractors and fuse these features to recognize respective action classes. We apply a high-level weights assignment algorithm for improving audio-visual interaction and convergence. This proposed fusion-based framework utilizes the influence of audio and video feature maps and uses them to classify an action. Compared with state-of-the-art audio-visual MHAR techniques, the proposed approach features a simpler yet more accurate and more generalizable architecture, one that performs better with different audio-image representations. The system achieves an accuracy 87.9% and 79.0% on UCF51 and Kinetics Sounds datasets, respectively. All code and models for this paper will be available at https://tinyurl.com/4ps2ux6n.
In situ Investigation of the Moisture Distribution and Deterioration of the Façade of Limestone Rock-Hewn Heritage
Authors: Wang Yinghong , Hao Zeqi , Zhang Hui 
Published: January 2024

AbstractWater plays a vital role in deteriorating stone heritage, especially those carved into vertical rock slopes. Southeast China is home to numerous limestone rock-hewn heritages, many of which showcase diverse deterioration patterns on their facades. Nevertheless, due to the large scale of this heritage and the limitations imposed by the principle of minimal intervention in practices, there is still a lack of practical strategies for understanding moisture distribution. Therefore, this study aims to analyse the moisture distribution of limestone rock-hewn statues via in situ detection employing a portable hygrometer and laboratory calibration based on the gravimetric method and regression analysis. The in situ determination was conducted in the Ciyunling statues niche 1 (World Heritage Site), which was hewn in the Wuyue states (942 CE). Thirty-six measuring areas were evenly planned on the niche's façade, with 20 moisture readings obtained from each measuring area. Additionally, the surface hardness of the typical area of statues was examined using a non-invasive Leeb hardness tester and Kruskal–Wallis H test to assess the impact of moisture on deterioration. The findings reveal that the statues' moisture content is higher than the background wall between the statues, signalling a greater potential for deterioration on the surface of the limestone statue. The primary source of moisture appears to be gaseous water in the atmosphere, which accumulates in the micropores through capillary condensation. Furthermore, the statistically significant differences in surface hardness between the chest/shoulder of statues and the root of the façade highlight the softening effect of moisture on the foundation of the limestone statues. Hence, the methodology utilised in this study serves as a viable approach for examining moisture levels and the extent of deterioration in rock-hewn heritage structures.
Can delta neutrophil index values predict the success of periodontal treatment in patients with periodontitis?
Authors: Özdemir Eda Çetin , Bozkurt Esra , Yazar Fatih Mehmet , Bozan Mehmet Buğra 
Published: January 2024

Abstract
Objectives
The aim of this study was to evaluate the effect of delta neutrophil index (DNI) on non-surgical periodontal therapy (NSPT), whose role has been documented in the pathogenesis and follow-up of periodontal disease.

Methods and materials
The study included 35 patients with stage 3, grade A periodontitis (test group) and 35 patients without periodontal disease (control group). Initially, periodontal parameters were recorded and blood samples were taken from all patients. For patients with periodontitis, periodontal parameter measurements and blood sample analyses were repeated 3 months after NSPT.

Results
After NSPT, DNI, CRP (C-reactive protein), neutrophil count, WBC (white blood cell), and neutrophil–lymphocyte ratio (NLR) values decreased in the test group, but did not reach a statistically significant level (p > 0.05). When the inflammatory variables were examined, significantly higher CRP, IG (immature granulocytes), DNI, neutrophil count, and WBC were observed in the test group compared to the control group (p < 0.05). In the test group, periodontal parameters were lower 3 months after NSPT than at baseline (p < 0.05).

Conclusion
Consistent with previous findings in the literature, the patients with periodontitis were determined to have higher levels of DNI, CRP, neutrophils, and WBC, compared to the individuals without periodontitis. Although a decrease was seen in DNI after NSPT, this was not at a significant level.

Clinical relevance
DNI is a guide in the evaluation of inflammation at the onset of periodontal disease, but studies with a larger number of cases are needed to use these parameters in the evaluation of treatment success.

Trial registration
This study was retrospectively registered on December 27, 2022, with the number NCT05666622 at http://www.clinicaltrials.gov.