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Search Results (1,601)

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14 pages, 2024 KiB  
Brief Report
Antibody Responses and the Vaccine Efficacy of Recombinant Glycosyltransferase and Nicastrin Against Schistosoma japonicum
by Bowen Dong, Haoran Zhong, Danlin Zhu, Luobin Wu, Jinming Wang, Hao Li and Yamei Jin
Pathogens 2025, 14(1), 70; https://doi.org/10.3390/pathogens14010070 - 14 Jan 2025
Viewed by 177
Abstract
Schistosomiasis is a neglected tropical disease and the second most common parasitic disease after malaria. While praziquantel remains the primary treatment, concerns about drug resistance highlight the urgent need for new drugs and effective vaccines to achieve sustainable control. Previous proteomic studies from [...] Read more.
Schistosomiasis is a neglected tropical disease and the second most common parasitic disease after malaria. While praziquantel remains the primary treatment, concerns about drug resistance highlight the urgent need for new drugs and effective vaccines to achieve sustainable control. Previous proteomic studies from our group revealed that the expression of Schistosoma japonicum glycosyltransferase and nicastrin as proteins was higher in single-sex males than mated males, suggesting their critical roles in parasite reproduction and their potential as vaccine candidates. In this study, bioinformatic tools were employed to analyze the structural and functional properties of these proteins, including their signal peptide regions, transmembrane domains, tertiary structures, and protein interaction networks. Recombinant forms of glycosyltransferase and nicastrin were expressed and purified, followed by immunization experiments in BALB/c mice. Immunized mice exhibited significantly elevated specific IgG antibody levels after three immunizations compared to adjuvant and PBS controls. Furthermore, immunization with recombinant glycosyltransferase and nicastrin significantly reduced the reproductive capacity of female worms and liver egg burden, though egg hatchability and adult worm survival were unaffected. These findings demonstrate that recombinant glycosyltransferase and nicastrin are immunogenic and reduce female worm fecundity, supporting their potential as vaccine candidates against schistosomiasis. Full article
(This article belongs to the Topic Advances in Infectious and Parasitic Diseases of Animals)
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23 pages, 1699 KiB  
Article
Integrative Analysis of Whole-Genome and Transcriptomic Data Reveals Novel Variants in Differentially Expressed Long Noncoding RNAs Associated with Asthenozoospermia
by Maria-Anna Kyrgiafini, Maria Katsigianni, Themistoklis Giannoulis, Theologia Sarafidou, Alexia Chatziparasidou and Zissis Mamuris
Non-Coding RNA 2025, 11(1), 4; https://doi.org/10.3390/ncrna11010004 - 14 Jan 2025
Viewed by 198
Abstract
Background/Objectives: Asthenozoospermia, characterized by reduced sperm motility, is a common cause of male infertility. Emerging evidence suggests that noncoding RNAs, particularly long noncoding RNAs (lncRNAs), play a critical role in the regulation of spermatogenesis and sperm function. Coding regions have a well-characterized [...] Read more.
Background/Objectives: Asthenozoospermia, characterized by reduced sperm motility, is a common cause of male infertility. Emerging evidence suggests that noncoding RNAs, particularly long noncoding RNAs (lncRNAs), play a critical role in the regulation of spermatogenesis and sperm function. Coding regions have a well-characterized role and established predictive value in asthenozoospermia. However, this study was designed to complement previous findings and provide a more holistic understanding of asthenozoospermia, this time focusing on noncoding regions. This study aimed to identify and prioritize variants in differentially expressed (DE) lncRNAs found exclusively in asthenozoospermic men, focusing on their impact on lncRNA structure and lncRNA–miRNA–mRNA interactions. Methods: Whole-genome sequencing (WGS) was performed on samples from asthenozoospermic and normozoospermic men. Additionally, an RNA-seq dataset from normozoospermic and asthenozoospermic individuals was analyzed to identify DE lncRNAs. Bioinformatics analyses were conducted to map unique variants on DE lncRNAs, followed by prioritization based on predicted functional impact. The structural impact of the variants and their effects on lncRNA–miRNA interactions were assessed using computational tools. Gene ontology (GO) and KEGG pathway analyses were employed to investigate the affected biological processes and pathways. Results: We identified 4173 unique variants mapped to 258 DE lncRNAs. After prioritization, 5 unique variants in 5 lncRNAs were found to affect lncRNA structure, while 20 variants in 17 lncRNAs were predicted to disrupt miRNA–lncRNA interactions. Enriched pathways included Wnt signaling, phosphatase binding, and cell proliferation, all previously implicated in reproductive health. Conclusions: This study identifies specific variants in DE lncRNAs that may play a role in asthenozoospermia. Given the limited research utilizing WGS to explore the role of noncoding RNAs in male infertility, our findings provide valuable insights and a foundation for future studies. Full article
(This article belongs to the Special Issue Exploring Non-coding RNAs: Insights into Male Infertility)
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21 pages, 8911 KiB  
Article
Identification of Immune Infiltration-Associated CC Motif Chemokine Ligands as Biomarkers and Targets for Colorectal Cancer Prevention and Immunotherapy
by Minghao Liu, Teng Wang and Mingyang Li
Int. J. Mol. Sci. 2025, 26(2), 625; https://doi.org/10.3390/ijms26020625 - 13 Jan 2025
Viewed by 257
Abstract
Colorectal cancer (CRC) is the third most common cancer globally, with limited effective biomarkers and sensitive therapeutic targets. An increasing number of studies have highlighted the critical role of tumor microenvironment (TME) imbalances, particularly immune escape due to impaired chemokine-mediated trafficking, in tumorigenesis [...] Read more.
Colorectal cancer (CRC) is the third most common cancer globally, with limited effective biomarkers and sensitive therapeutic targets. An increasing number of studies have highlighted the critical role of tumor microenvironment (TME) imbalances, particularly immune escape due to impaired chemokine-mediated trafficking, in tumorigenesis and progression. Notably, CC chemokines (CCLs) have been shown to either promote or inhibit angiogenesis, metastasis, and immune responses in tumors, thereby influencing cancer development and patient outcomes. However, the diagnostic and prognostic significance of CCLs in CRC remains unclear. In this study, multiple online tools for bioinformatics analyses were utilized. The findings revealed that the mRNA expression levels of CCL3, CCL4, and CCL26 were significantly elevated in CRC tissues compared to normal tissues, whereas CCL2, CCL5, CCL11, CCL21, and CCL28 mRNA levels were markedly downregulated. Additionally, dysregulation of CCL4, CCL5, and CCL21 was strongly associated with clinical staging, and elevated levels of CCL4, CCL11, and CCL28 were linked to significantly prolonged survival in CRC patients. Functional enrichment analysis indicated that the cellular roles of CCLs were predominantly associated with the chemokine, Wnt, and Toll-like receptor signaling pathways, as well as protein kinase activity. Furthermore, transcriptional regulation of most CCLs involved RELA and NFKB1. Key downstream targets included members of the SRC family of tyrosine kinases (HCK, LYN, and LCK), serine/threonine kinases (ATR and ATM), and others such as CSNK1G2, NEK2, and CDK2. Moreover, CCLs (CCL2, CCL3, CCL4, CCL5, CCL11, CCL21, and CCL28) exhibited strong correlations with major infiltration-related immune cells, including B cells, CD8+ T cells, CD4+ T cells, macrophages, neutrophils, and dendritic cells. In conclusion, our study provides novel insights into the potential utility of CCLs as biomarkers and therapeutic targets for CRC prevention and immunotherapy. Full article
(This article belongs to the Section Molecular Informatics)
15 pages, 19478 KiB  
Article
Successful Traceability of Wildlife Samples Contributes to Wildlife Conservation: A Case Study of Tracing the Snub-Nosed Monkey (Rhinopithecus spp.)
by Xibo Wang, Ying Shen, Yang Teng, Ruifeng Wu, Shuhao Liu, Jilai Zhao, Can Hu, Ming Li, Huijuan Pan and Jiwei Qi
Animals 2025, 15(2), 174; https://doi.org/10.3390/ani15020174 - 10 Jan 2025
Viewed by 472
Abstract
Rapid and effective methods for tracing the geographic origin of wildlife samples are essential for tackling the illegal wildlife trade. Traditional morphological categorization methods are often inadequate as relying on the mitochondrial COXI barcode is insufficient for determining geographic populations. To address these [...] Read more.
Rapid and effective methods for tracing the geographic origin of wildlife samples are essential for tackling the illegal wildlife trade. Traditional morphological categorization methods are often inadequate as relying on the mitochondrial COXI barcode is insufficient for determining geographic populations. To address these limitations, we developed a bioinformatics-based pipeline for the rapid identification of traceable nuclear genome loci. This pipeline has been applied to the whole-genome sequence (WGS) data of China’s flagship species, the snub-nosed monkey (Rhinopithecus spp.). These species are known for sex-biased dispersal and hybrid speciation, which complicates genealogy tracing. Using phylogenetic principles, we employed the Robinson and Foulds (RF) distance and scanned over 1,850,726 population-specific loci, identifying five pairs that can trace genealogy origins rapidly and cost-effectively using PCR. Additionally, we found that relying only on mitochondrial genetic information is insufficient for rapid and accurate traceability to subspecies-level geographic populations. Our pipeline efficiently identifies loci and traces the geographic origin of snub-nosed monkey individuals, providing a valuable tool for species preservation and combating the wildlife trade. This approach can be extended to other species, aiding in the conservation of endangered wildlife and tracing criminal evidence. Full article
(This article belongs to the Section Wildlife)
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23 pages, 17622 KiB  
Article
Freeze-Drying for the Reduction of Fruit and Vegetable Chain Losses: A Sustainable Solution to Produce Potential Health-Promoting Food Applications
by Dario Donno, Giovanna Neirotti, Annachiara Fioccardi, Zoarilala Rinah Razafindrakoto, Nantenaina Tombozara, Maria Gabriella Mellano, Gabriele Loris Beccaro and Giovanni Gamba
Plants 2025, 14(2), 168; https://doi.org/10.3390/plants14020168 - 9 Jan 2025
Viewed by 400
Abstract
Freeze-drying fresh vegetables and fruits may not only prevent post-harvest losses but also provide a concentrated source of nutrients and phytochemicals. This study focused on the phenolic composition of different freeze-dried products derived from horticultural crop remains (HCRs) in the vegetable and fruit [...] Read more.
Freeze-drying fresh vegetables and fruits may not only prevent post-harvest losses but also provide a concentrated source of nutrients and phytochemicals. This study focused on the phenolic composition of different freeze-dried products derived from horticultural crop remains (HCRs) in the vegetable and fruit production chain. These products may be considered as a potential health-promoting solution for preventing post-harvest fruit spoiling and losses. The total polyphenolic content (TPC) and the main phenolics were studied using high-performance liquid chromatography (HPLC) with a diode array detector (DAD). Additionally, an in vitro chemical screening of the antioxidant capacity was carried out using the Ferric Reducing Antioxidant Power (FRAP) assay. These analyses were performed together with an investigation of the correlations among phenolics and their antioxidant properties, and a bioinformatic approach was used to estimate the main potential bio-targets in human beings. Furthermore, a statistical approach using Principal Component Analysis (PCA) was carried out for a multivariate characterization of these products. Catechins, flavonols, and phenolic acids were the predominant and most discriminating classes in different products. The TPC values obtained in this study ranged from 366.86 ± 71.30 mg GAE/100 g DW (apple, MD) to 1077.13 ± 35.47 mg GAE/100 g DW (blueberry, MID) and 1102.25 ± 219.71 mg GAE/100 g DW (kaki, KD). The FRAP values ranged from 49.28 ± 2.88 mmol Fe2+/kg DW (apple, MD) to 80.43 ± 0.02 mmol Fe2+/kg DW (blueberry, MID) and 79.05 ± 0.21 mmol Fe2+/kg DW (kaki, KD). The proposed approach may be an effective tool for quality control and valorization of these products. This study showed that the utilization of crop remains can potentially lead to the development of new functional foods, providing additional economic benefits for farmers. Finally, the use of freeze-drying may potentially be a sustainable and beneficial solution for growers who may directly utilize this technology to produce dried products from the crop remains of their fruit productions. Full article
(This article belongs to the Special Issue Nutritional Value and Phytochemical Composition of Plant Foods)
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22 pages, 3082 KiB  
Article
Genomic Characterization of Carbapenemase-Producing Enterobacteriaceae from Clinical and Epidemiological Human Samples
by Alexander Tristancho-Baró, Laura Eva Franco-Fobe, Monica Pilar Ariza, Ana Milagro, Ana Isabel López-Calleja, Blanca Fortuño, Concepción López, Miriam Latorre-Millán, Laura Clusa, Rosa Martínez, Carmen Torres and Antonio Rezusta
Antibiotics 2025, 14(1), 42; https://doi.org/10.3390/antibiotics14010042 - 6 Jan 2025
Viewed by 583
Abstract
Background/Objectives: Infections caused by multidrug-resistant (MDR)bacteria pose a significant public health threat by worsening patient outcomes, contributing to hospital outbreaks, and increasing health and economic burdens. Advanced genomic tools enhance the detection of resistance genes, virulence factors, and high-risk clones, thus improving [...] Read more.
Background/Objectives: Infections caused by multidrug-resistant (MDR)bacteria pose a significant public health threat by worsening patient outcomes, contributing to hospital outbreaks, and increasing health and economic burdens. Advanced genomic tools enhance the detection of resistance genes, virulence factors, and high-risk clones, thus improving the management of MDR infections. In the Autonomous Community of Aragon, the diversity and incidence of carbapenemase-producing Enterobacteriaceae (CPE) have increased during the last years. This study analyses CPE trends at a tertiary hospital in Spain from 2021 to 2023, aiming to optimize personalized medicine. Methods: CPE isolates were the first isolate per patient, year, species, and carbapenemase from January 2021 to December 2023. Additional metadata were collected from the laboratory’s information system. Antibiotic susceptibility testing was performed by broth microdilution. Whole-genome sequencing (WGS) was performed using Illumina short reads. De novo assembly was used to generate draft genomes in order to determine their complete taxonomic classification, resistome, plasmidome, sequence type (ST), core–genome multilocus sequence typing (cgMLST), and phylogenetic relationships using a suite of bioinformatics tools and in-house scripts. Results: Between 2021 and 2023, 0.4% out of 38,145 Enterobacteriaceae isolates were CPE. The CPE rate tripled in 2022 and doubled again in 2023. The most common species was Klebsiella pneumoniae (51.8%) and the most common carbapenemase was blaOXA-48. WGS revealed concordant species identification and the carbapenemase distribution in detail. Resistance rates to critical antibiotics, such as carbapenems, were variable, but in most cases were above 70%. Genetic diversity was observed in WGS and phylogenetic analyses, with plasmids often mediating carbapenemase dissemination. Conclusions: The increasing rate of CPE in healthcare settings highlights a critical public health challenge, with limited treatment options. Genomic characterization is essential to understanding resistance mechanisms, aiding therapy, limiting outbreaks, and improving precision medicine. Full article
(This article belongs to the Special Issue Epidemiological Data on Antibiotic Resistance)
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26 pages, 6633 KiB  
Article
The Transcription of Transposable Elements Differentially Regulated by SVAs in the Major Histocompatibility Complex Class I Region of a Parkinson’s Progression Markers Initiative Cohort
by Jerzy K. Kulski, Abigail L. Pfaff and Sulev Koks
J. Mol. Pathol. 2025, 6(1), 1; https://doi.org/10.3390/jmp6010001 - 6 Jan 2025
Viewed by 385
Abstract
Background/Objectives: The highly polymorphic Major Histocompatibility Complex (MHC) genomic region, located on the short arm of chromosome 6, is implicated genetically in Parkinson’s disease (PD), a progressive neurodegenerative disorder with motor and non-motor symptoms. Previously, we reported significant associations between SINE-VNTR-Alu (SVA) expression [...] Read more.
Background/Objectives: The highly polymorphic Major Histocompatibility Complex (MHC) genomic region, located on the short arm of chromosome 6, is implicated genetically in Parkinson’s disease (PD), a progressive neurodegenerative disorder with motor and non-motor symptoms. Previously, we reported significant associations between SINE-VNTR-Alu (SVA) expression quantitative trait loci (eQTLs) and Human Leucocyte Antigen (HLA) class I genotypes in PD. In this study, we aimed to evaluate SVA associations and their regulatory effects on transposable element (TE) transcription in the MHC class I region. Methods: Transcriptome data from the peripheral blood cells of 1530 individuals in the Parkinson’s Progression Markers Initiative (PPMI) cohort were reanalyzed for TE and gene expression using publicly available bioinformatics tools, including Salmon and Matrix-eQTL. Results: Four structurally polymorphic SVAs regulated the transcription of 18 distinct clusters of 235 TE loci, comprising LINEs (33%), SINEs (19%), LTRs (35%), and ancient transposon DNA elements (12%) located near HLA genes. The transcribed TEs were predominantly short, with an average length of 445 nucleotides. The regulatory effects of these SVAs varied significantly in terms of TE types, numbers, and transcriptional activation or repression. The SVA-regulated TE RNAs in blood cells appear to function as enhancer-like elements, differentially influencing the expression of HLA class I genes, non-HLA genes, and noncoding RNAs. Conclusions: These findings highlight the roles of SVAs and their associated TEs in the complex regulatory networks governing coding and noncoding gene expression in the MHC class I region, with potential implications for immune function and disease susceptibility. Full article
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34 pages, 2675 KiB  
Review
Chronic Gastrointestinal Disorders and miRNA-Associated Disease: An Up-to-Date
by Alessandro Giammona, Bruno Giovanni Galuzzi, Elena Imperia, Clarissa Gervasoni, Sofia Remedia, Laura Restaneo, Martina Nespoli, Laura De Gara, Flaminia Tani, Michele Cicala, Michele Pier Luca Guarino, Danilo Porro, Antonio Cerasa, Alessia Lo Dico, Annamaria Altomare and Gloria Bertoli
Int. J. Mol. Sci. 2025, 26(1), 413; https://doi.org/10.3390/ijms26010413 - 6 Jan 2025
Viewed by 727
Abstract
Chronic gastrointestinal disorders such as inflammatory bowel diseases (IBDs) and irritable bowel syndrome (IBS) impose significant health burdens globally. IBDs, encompassing Crohn’s disease and ulcerative colitis, are multifactorial disorders characterized by chronic inflammation of the gastrointestinal tract. On the other hand, IBS is [...] Read more.
Chronic gastrointestinal disorders such as inflammatory bowel diseases (IBDs) and irritable bowel syndrome (IBS) impose significant health burdens globally. IBDs, encompassing Crohn’s disease and ulcerative colitis, are multifactorial disorders characterized by chronic inflammation of the gastrointestinal tract. On the other hand, IBS is one of the principal gastrointestinal tract functional disorders and is characterized by abdominal pain and altered bowel habits. Although the precise etiopathogenesis of these disorders remains unclear, mounting evidence suggests that non-coding RNA molecules play crucial roles in regulating gene expression associated with inflammation, apoptosis, oxidative stress, and tissue permeability, thus influencing disease progression. miRNAs have emerged as possible reliable biomarkers, as they can be analyzed in the biological fluids of patients at a low cost. This review explores the roles of miRNAs in IBDs and IBS, focusing on their involvement in the control of disease hallmarks. By an extensive literature review and employing bioinformatics tools, we identified the miRNAs frequently studied concerning these diseases. Ultimately, specific miRNAs could be proposed as diagnostic biomarkers for IBDs and IBS. Their ability to be secreted into biofluids makes them promising candidates for non-invasive diagnostic tools. Therefore, understanding molecular mechanisms through the ways in which they regulate gastrointestinal inflammation and immune responses could provide new insights into the pathogenesis of IBDs and IBS and open avenues for miRNA-based therapeutic interventions. Full article
(This article belongs to the Section Molecular Pathology, Diagnostics, and Therapeutics)
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18 pages, 9340 KiB  
Article
Genome-Wide Identification of miRNAs in Oily Persimmon (Diospyros oleifera Cheng) and Their Functional Targets Associated with Proanthocyanidin Metabolism
by Meng Zhang, Rong Wu, Xinlong Hu, Zhengrong Luo, Qinglin Zhang and Sichao Yang
Horticulturae 2025, 11(1), 41; https://doi.org/10.3390/horticulturae11010041 - 5 Jan 2025
Viewed by 361
Abstract
Cultivated persimmon (Diosspyros kaki Thunb.) is a hexaploid (mostly) or a nonaploid with high heterozygosity, hindering molecular genetic studies on proanthocyanidin (PA) metabolism, which is a major trait for persimmon astringency. Recently, one of its wild diploid relative species, oily persimmon ( [...] Read more.
Cultivated persimmon (Diosspyros kaki Thunb.) is a hexaploid (mostly) or a nonaploid with high heterozygosity, hindering molecular genetic studies on proanthocyanidin (PA) metabolism, which is a major trait for persimmon astringency. Recently, one of its wild diploid relative species, oily persimmon (Diospyros oleifera), has been assembled with a chromosome-level reference. Thus, oily persimmon is now regarded as a model plant for discovering new genes associated with PA metabolism, which is highly accumulated in the fruits of this genus. In our study, we identified genome-wide microRNAs (miRNAs) and their precursor sequence based on the chromosome-scale genome of oily persimmon and the miRNA database of “Eshi 1” according to the sequence alignment and secondary structure accession. The targets were predicted on the psRNATarget software based on the genome CDS database. The size, conservation, diversity, stem-loop hairpin structures, and genome location of miRNA or the precursor sequence were analyzed by bioinformatics tools. The promoter elements of the miRNA genes were predicted on the promoter-2.0 software, which indicated that the abundant cis-acting elements were light responsiveness, promoter, and enhancer regions. The qRT-PCR assay was performed to elucidate the potential expression patterns of precursor miRNA and their targets during fruit development, and one target gene, DkMYB22, of miR2911 was verified to promote the conversion of soluble tannins into insoluble tannins involved in the deastringency in persimmons. Together, this study provides a robust foundation for further functional verification of these miRNAs associated with the natural deastringency process in persimmon, thereby facilitating advancements in persimmon fruit breeding. Full article
(This article belongs to the Section Genetics, Genomics, Breeding, and Biotechnology (G2B2))
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17 pages, 3570 KiB  
Article
A Pilot Study of Exosome Proteomic Profiling Reveals Dysregulated Metabolic Pathways in Endometrial Cancer
by Feras Kharrat, Valeria Capaci, Andrea Conti, Valentina Golino, Pietro Campiglia, Nour Balasan, Michelangelo Aloisio, Danilo Licastro, Lorenzo Monasta, Federica Caponneto, Antonio Paolo Beltrami, Federico Romano, Giovanni di Lorenzo, Giuseppe Ricci and Blendi Ura
Biomedicines 2025, 13(1), 95; https://doi.org/10.3390/biomedicines13010095 - 3 Jan 2025
Viewed by 580
Abstract
Background/Objectives: Endometrial cancer (EC) is the second most frequent gynecological malignant tumor in postmenopausal women. Pathogenic mechanisms related to the onset and development of the disease are still unknown. To identify dysregulated proteins associated with EC we exploited a combined in vitro/in [...] Read more.
Background/Objectives: Endometrial cancer (EC) is the second most frequent gynecological malignant tumor in postmenopausal women. Pathogenic mechanisms related to the onset and development of the disease are still unknown. To identify dysregulated proteins associated with EC we exploited a combined in vitro/in silico approach analyzing the proteome of exosomes with advanced MS techniques and annotating their results by using Chymeris1 AI tools. Methods: To this aim in this pilot study, we performed a deep proteomics analysis with high resolution MS (HRMS), advanced computational tools and western blotting for proteomics data validation. Results: That allowed us to identify 3628 proteins in serum albumin-depleted exosomes from 10 patients with EC compared to 10 healthy controls. This is the largest number of proteins identified in EC serum EVs. After quantification and statistical analysis, we identified 373 significantly (p < 0.05) dysregulated proteins involved in neutrophil and platelet degranulation pathways. A more detailed bioinformatics analysis revealed 61 dysregulated enzymes related to metabolic and catabolic pathways linked to tumor invasion. Through this analysis, we identified 49 metabolic and catabolic pathways related to tumor growth. Conclusions: Altogether, data shed light on the metabolic pathways involved in tumors. This is very important for understanding the metabolism of EC and for the development of new therapies. Full article
(This article belongs to the Special Issue Endometrial Cancer: From Pathobiology to Treatment)
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13 pages, 3249 KiB  
Article
Association of Novel Pathogenic Variant (p. Ile366Asn) in PLA2G6 Gene with Infantile Neuroaxonal Dystrophy
by Asma Naseer Cheema, Ruyu Shi and M. Ilyas Kamboh
Int. J. Mol. Sci. 2025, 26(1), 352; https://doi.org/10.3390/ijms26010352 - 3 Jan 2025
Viewed by 353
Abstract
A couple presented to the office with an apparently healthy infant for a thorough clinical assessment, as they had previously lost two male children to a neurodegenerative disorder. They also reported the death of a male cousin abroad with a comparable condition. We [...] Read more.
A couple presented to the office with an apparently healthy infant for a thorough clinical assessment, as they had previously lost two male children to a neurodegenerative disorder. They also reported the death of a male cousin abroad with a comparable condition. We aimed to evaluate a novel coding pathogenic variant c.1097T>A, PLA2G6, within the affected family, previously identified in a deceased cousin, but its clinical significance remained undetermined. A 200 bp PCR product of target genome (including codon 366 of PLA2G6) was amplified followed by enzymatic digestion (MboI) and sequencing. Structural pathogenic variant analysis was performed using PyMOL 2.5.4. In RFLP analysis, the mutant-type allele produced a single band of 200 bp, and the wild-type allele manifested as two bands of 112 bp and 88 bp. The pathogenic variant was identified in nine family members, including two heterozygous couples with consanguineous marriages resulting in affected children. It was predicted to be deleterious by multiple bioinformatic tools. The substitution of nonpolar isoleucine with polar asparagine of iPLA2 (Ile366Asn) resulted in a eense pathogenic variant (ATC>AAC). A missense variant (p. Ile366Asn) in the PLA2G6 gene is associated with clinically evident infantile neuroaxonal dystrophy, which is transmitted in an autosomal recessive pattern, and is also predicted to be dysfunctional by bioinformatic analyses. Full article
(This article belongs to the Special Issue Molecular Pathology and Diagnosis of Neurodegenerative Disorders)
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15 pages, 3640 KiB  
Article
The Identification of Auxin Response Factors and Expression Analyses of Different Floral Development Stages in Roses
by Rui Huang, Xiaoni Zhang, Kaiqing Luo, Luke R. Tembrock, Sen Li and Zhiqiang Wu
Genes 2025, 16(1), 41; https://doi.org/10.3390/genes16010041 - 1 Jan 2025
Viewed by 500
Abstract
Background/Objectives: Auxin response factors (ARFs) are important in plant growth and development, especially flower development. However, there is limited research on the comprehensive identification and characterization of ARF genes in roses. Methods: We employed bioinformatics tools to identify the ARF [...] Read more.
Background/Objectives: Auxin response factors (ARFs) are important in plant growth and development, especially flower development. However, there is limited research on the comprehensive identification and characterization of ARF genes in roses. Methods: We employed bioinformatics tools to identify the ARF genes of roses. These genes were characterized for their phylogenetic relationships, chromosomal positions, conserved motifs, gene structures, and expression patterns. Results: In this study, a total of 17 ARF genes were identified in the genomes of Rosa chinensis ‘OB’, R. chinensis ‘CH’, R. rugosa, and R. wichurana. Based on RNA-seq analyses, we found that the ARF genes had diverse transcript patterns in various tissues and cultivars. In ‘CH’, the expression levels of RcCH_ARFs during different flower-development stages were classified into four clusters. In cluster 3 and cluster 4, RcCH_ARFs were specifically high and low in different stages of floral evocation. Gene expression and phylogenetic analyses showed that RcCH_ARF3, RcCH_ARF4, and RcCH_ARF18 were likely to be the key genes for rose flower development. Conclusions: The identification and characterization of ARF genes in Rosa were investigated. The results presented here provide a theoretical basis for the molecular mechanisms of ARF genes in plant development and flowering for roses, with a broader application for other species in the rose family and for the development of novel cultivars. Full article
(This article belongs to the Section Plant Genetics and Genomics)
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12 pages, 622 KiB  
Article
Revisiting Avian Metapneumovirus Subtype B in Broiler Chickens and Turkeys in Morocco: First Molecular Characterization
by Amine Mernizi, Abdeljelil Ghram, Hicham Fathi, Enrique Carceller, Juan-Luis Criado, Martina Dardi, Oumayma Arbani, Mohammed Bouslikhane, Mohammed Mouahid, Caterina Lupini, Elena Catelli, Siham Fellahi and Saadia Nassik
Poultry 2025, 4(1), 3; https://doi.org/10.3390/poultry4010003 - 31 Dec 2024
Viewed by 504
Abstract
Avian Metapneumovirus (aMPV) is a significant poultry pathogen with a global presence, primarily causing respiratory issues in turkeys. It also affects chickens, although the severity of its impact is often lessened in this species. In Morocco, aMPV has been detected in broiler flocks, [...] Read more.
Avian Metapneumovirus (aMPV) is a significant poultry pathogen with a global presence, primarily causing respiratory issues in turkeys. It also affects chickens, although the severity of its impact is often lessened in this species. In Morocco, aMPV has been detected in broiler flocks, prompting the need to deeply analyze circulating strains to better understand the epidemiology and develop control measures accordingly. This research focuses on the sequencing and molecular characterization of aMPV in these flocks. Additionally, aMPV isolated from turkeys displaying Turkey Rhinotracheitis (TRT) signs was included in the study to compare the findings. RNA extracted from positive swabs was subjected to nested PCR, targeting the attachment protein of the G gene, followed by gel electrophoresis. Amplicons were purified and sequenced using the Sanger method. Bioinformatics tools facilitated sequence analyses, including BLAST for similarity searches and Mega® for phylogenetic analysis using the maximum likelihood method with 1000 bootstrap replicates. The investigation unveiled the existence of two distinct clades of the aMPV/B isolates, which originated from used vaccines, all circulating in broilers and turkeys and indicating potential virus transmission between both poultry species. This article presents the first-ever molecular characterization of aMPV isolated from Moroccan broilers and turkeys, encompassing comprehensive investigations on its presence and subtype, and genetic characterization. Full article
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24 pages, 1408 KiB  
Review
Advances and Challenges in Antiviral Development for Respiratory Viruses
by Luis Adrián De Jesús-González, Moisés León-Juárez, Flor Itzel Lira-Hernández, Bruno Rivas-Santiago, Manuel Adrián Velázquez-Cervantes, Iridiana Monserrat Méndez-Delgado, Daniela Itzel Macías-Guerrero, Jonathan Hernández-Castillo, Ximena Hernández-Rodríguez, Daniela Nahomi Calderón-Sandate, Willy Salvador Mata-Martínez, José Manuel Reyes-Ruíz, Juan Fidel Osuna-Ramos and Ana Cristina García-Herrera
Pathogens 2025, 14(1), 20; https://doi.org/10.3390/pathogens14010020 - 31 Dec 2024
Viewed by 899
Abstract
The development of antivirals for respiratory viruses has advanced markedly in response to the growing threat of pathogens such as Influenzavirus (IAV), respiratory syncytial virus (RSV), and SARS-CoV-2. This article reviews the advances and challenges in this field, highlighting therapeutic strategies that target [...] Read more.
The development of antivirals for respiratory viruses has advanced markedly in response to the growing threat of pathogens such as Influenzavirus (IAV), respiratory syncytial virus (RSV), and SARS-CoV-2. This article reviews the advances and challenges in this field, highlighting therapeutic strategies that target critical stages of the viral replication cycle, including inhibitors of viral entry, replication, and assembly. In addition, innovative approaches such as inhibiting host cellular proteins to reduce viral resistance and repurposing existing drugs are explored, using advanced bioinformatics tools that optimize the identification of antiviral candidates. The analysis also covers emerging technologies such as nanomedicine and CRISPR gene editing, which promise to improve the stability and efficacy of treatments. While current antivirals offer valuable options, they face challenges such as viral evolution and the need for accessible treatments for vulnerable populations. This article underscores the importance of continued innovation in biotechnology to overcome these limitations and provide safe and effective treatments. Combining traditional and advanced approaches in developing antivirals is essential in order to address respiratory viral diseases that affect global health. Full article
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23 pages, 3333 KiB  
Article
Identification of Allergenic Tropomyosins with Known and Unknown Sequences in Seafood Products
by Marta Godlewska, Piotr Minkiewicz, Małgorzata Darewicz and Anna Iwaniak
Appl. Sci. 2025, 15(1), 63; https://doi.org/10.3390/app15010063 - 25 Dec 2024
Viewed by 342
Abstract
Invertebrate tropomyosins belong to the key food allergens. Several peptides likely to be released during proteolysis can be found in many sequences of proteins from this family. The aim of the present study was to evaluate the possibility of identifying tropomyosins with known [...] Read more.
Invertebrate tropomyosins belong to the key food allergens. Several peptides likely to be released during proteolysis can be found in many sequences of proteins from this family. The aim of the present study was to evaluate the possibility of identifying tropomyosins with known and unknown amino acid sequences in unheated, boiled and fried seafoods. The workflow included in silico proteolysis simulation of tropomyosin sequences and analysis of the distribution of resulting peptides among proteins. The experiment entailed the proteolysis of unheated, boiled and fried products, containing crustaceans or mollusks, and the identification of resulting peptides using LC-MS/MS. Finally, taxonomic lineages of identified peptides were determined. Predicted peptides were identified in unheated samples. The boiling of seafoods resulted in an increase in the length of peptides containing predicted sequences. Some peptides from the boiled samples contained entire linear epitopes. The prediction of tropomyosin cleavage sites failed in the case of fried products. Peptides from the unheated and boiled samples were attributed to crustacean, arthropod or molluscan tropomyosins. In turn, peptides from the fried samples possessed inconclusive taxonomic lineages. Our results show that bioinformatics analysis (especially using Unipept program) may be a viable tool supporting LC-MS/MS experiments aimed at the detection of allergens. Full article
(This article belongs to the Special Issue Proteins and Peptides from Foods in 2024)
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