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The MiT/TFE family transcription factors play a critical role in lysosomal biogenesis, autophagy, mitochondrial turnover and lipid catabolism by regulating the Coordinated Lysosomal Expression and Regulation (CLEAR)gene network. The dysregulation of MiT/TFE activity has been implicated in the onset and progression of cancer and neurodegeneration, but its functions in association with pulmonary diseases remain poorly understood. In this review, we systematically summarize the findings from human pulmonary diseases and associated genetic disorders, such as asthma, cancer, Birt–Hogg–Dube (BHD) syndrome, and lung injury models that implicate MiT/TFE dysregulation in pathogenic progression. We also discussed MiT/TFE regulation and signaling through pathways involving mTORC1, AMPK, and lysosomal stress in different cellular contexts. Finally, we discussed significant mechanistic gaps, such as the absence of in vivo models targeting the combined activity of TFEB and TFE3 in disease progression and prevention. In conclusion, these insights seek to offer a comprehensive framework for understanding MiT/TFE signaling in human lung diseases and could present a promising opportunity for directing future mechanistic and translational research. Full article

(This article belongs to the Special Issue Kidney and Lung Disorders: The Role of Tubular and Alveolar Epithelia in Health, Disease, Infection, and Organ Crosstalk)

11 pages, 785 KB

Open AccessArticle

Integration of HPLC-ESI-MS/MS and NMR Techniques for Characterizing Monoterpene Indole Alkaloids in Leaves and Stems of Psychotria densicostata and Their Potential as Inhibitors of Human Neutrophil Elastase

by Virginia G. Correia, Victor F. Jesus, Rodolfo S. Barboza, Alviclér Magalhães, Leonardo N. Seito, Mário Gomes, Marcelo R. R. Tappin and Ligia M. M. Valente

Analytica 2026, 7(2), 31; https://doi.org/10.3390/analytica7020031 (registering DOI) - 18 Apr 2026

Abstract

The species Psychotria densicostata Müll.Arg. is a shrub belonging to the Rubiaceae family, endemic to Brazil. So far, there are reports neither of phytochemical work on nor of biological evaluation of it. This study investigated its alkaloid profile and evaluated the inhibitory effects of extracts, alkaloid-enriched fractions and one of its major constituents on human neutrophil elastase (HNE). The monoterpene indole alkaloids (MIAs) strictosidine (1), (3α,5α)-5-carboxystrictosidine (2), strictosidine lactam (3), lyaloside (4), lyalosidic acid (5), 5-carboxystrictosamide (6), 3,4-dehydrostrictosidinic acid (7), and N-glucopyranosyl vincosamide (8) were characterized in mixture, in its leaves, and/or stems by using an integrated approach combining nuclear magnetic resonance (NMR) techniques, high performance liquid chromatography coupled to a tandem mass spectrometer with an electrospray ionization source (HPLC-ESI-MS/MS), and molecular networks. The crude leaf extract and an alkaloid-enriched fraction derived from it showed inhibitory activity against HNE. These results contribute to the chemical knowledge of the species and suggest its potential biological property. Full article

(This article belongs to the Topic Innovative Analytical Approaches for Natural Products and Pharmaceuticals in Complex Matrices)

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13 pages, 1676 KB

Open AccessArticle

STAG1: Bridging the Gap Between Cohesin Complex and Epigenetic Machinery

by Tiziano Palazzotti, Giulia Bruna Marchetti, Rosa Maria Alfano, Ilaria Bestetti, Palma Finelli and Donatella Milani

Genes 2026, 17(4), 483; https://doi.org/10.3390/genes17040483 (registering DOI) - 18 Apr 2026

Abstract

Background: The STAG1 gene has been related to a poorly known form of intellectual disability, known as Intellectual Developmental Disorder, Autosomal Dominant 47 (MRD47). Functionally, MRD47 is part of the Cohesinopathies, a small family of rare genetic disorders caused by defective cohesin complex, whose activity is essential for sister chromatid cohesion and therefore for chromatin organization. Chromatin state modulation is an entangled process finely modulated by a large number of actors that, if altered, give rise to the so-called Chromatinopathies. The clinical and biological overlap among these families of conditions on one hand poses significant challenges during diagnostic definition, and, on the other, may help delineate more accurate management guidelines. Methods: Starting from the report of a novel pathogenic variant in the STAG1 gene, we performed a retrospective clinical and molecular review of all previously reported patients affected by this rare disorder. Once clinical and photographic data of all published patients were collected, we used Face2Gene deep learning technology to analyze STAG1 facial phenotype, comparing it to both Chromatinopathy and Cohesinopathy profiles. Results: Our clinical and molecular re-evaluation of reported cases confirms MRD47 as a mainly neurodevelopmental disorder. Through artificial intelligence technology, we were able to first create the gestaltic profile of MRD47. Face2Gene analyses of this composite phenotype, although limited by the tool’s analysis modalities, demonstrates the strong overlap of STAG1 disorder with Chromatinopathies. Conclusions: The present literature review, together with gestaltic analyses of the STAG1-related phenotype, underscores the strong resemblance of MRD47 to epigenetic machinery disorders. The present case brings to light once more the biological and phenotypical entanglement of Cohesinopathies and Chromatinopathies, hinting at STAG1 as the joining chain. Full article

(This article belongs to the Collection Genetics and Genomics of Rare Disorders)

19 pages, 14655 KB

Open AccessArticle

Structure–Activity Relationship and Stage-Dependent Inhibition of Adipogenesis by Curcuminoid Derivatives in 3T3-L1 Cells

by Suzuna Araki, Yumi Ueda, Hinako Ayabe, Rio Otsuka, Kengo Kohama, Kouta Maenishi, Changsun Choi, Sung-Kwon Moon, Toshiya Masuda, Miwako Deguchi, Shigeru Saeki and DongHo Kim

Nutrients 2026, 18(8), 1285; https://doi.org/10.3390/nu18081285 (registering DOI) - 18 Apr 2026

Abstract

Background/Objectives: To address the limitations of natural curcumin, this study focuses on the functional evaluation of structurally optimized derivatives. We aimed to elucidate structure–activity relationships (SAR) and the stage-specific molecular mechanisms of adipogenesis inhibition using an in vitro cellular assay. Methods: Four novel curcuminoids were synthesized and evaluated in 3T3-L1 preadipocytes against natural curcumin (Curcuminoid I). Efficacy and mechanisms were assessed via cell viability assays, quantitative Oil Red O staining, and time-dependent transcriptional profiling (qPCR/Western blotting) of the KLF family and master regulators. Results: SAR analysis identified Curcuminoid III (symmetric 3,5-dimethoxy-4-hydroxy) as the most potent and safe candidate, whereas Curcuminoid IV exhibited cytotoxicity. Time-course analysis revealed a distinct step-wise inhibition mechanism wherein Curcuminoid III significantly upregulated the differentiation repressor KLF2 at the immediate-early phase. This rapid modulation effectively prevented the subsequent induction of pro-adipogenic factors, including KLF9, KLF15, PPARγ, and C/EBPα, in the mid-stage (3–5 d). Consequently, the expression of the maturation marker aP2 was robustly suppressed by the late stage (5–7 d). Conclusions: The symmetric 3,5-dimethoxy-4-hydroxy substitution pattern appears to confer strong anti-adipogenic activity to Curcuminoid III. Early modulation of the KLF2–PPARγ axis at the onset of differentiation may initiate a cascading inhibitory effect throughout the adipogenic program. These findings highlight the potential of structurally optimized plant-derived bioactive compounds as regulators of metabolic cell fate. Full article

(This article belongs to the Special Issue Plant-Based Diets: Nutritional Adequacy, Bioactive Compounds, and In Vitro Cellular Bioactivity Assessment)

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23 pages, 2798 KB

Open AccessArticle

Thermal Behavior, Density and Viscosity of Terpene-Based Hydrophobic Eutectic Solvent Systems with Alcohols and Carboxylic Acids: Comparison with Tetrabutylphosphonium Bromide (TBPBr)-Based Systems

by Jasmin Suljagić, Edita Bjelić, Mersiha Suljkanović, Snežana Papović, Janez Cerar and Milan Vraneš

Molecules 2026, 31(8), 1336; https://doi.org/10.3390/molecules31081336 (registering DOI) - 18 Apr 2026

Abstract

Hydrophobic eutectic solvent systems (ESSs) were prepared and characterized using temperature-dependent thermophysical and transport property measurements, supported by thermal analysis. The investigated systems comprise terpene-based mixtures, menthol:octanoic acid (1:2) and menthol:decanoic acid (1:1), and thymol-based mixtures, thymol:butanol (1:1), thymol:hexanol (1:1), thymol:octanoic acid (1:1), and thymol:oleic acid (1:1), as well as salt-containing ESSs based on tetrabutylphosphonium bromide (TBPBr), TBPBr:octanoic acid (1:1), and TBPBr:lauric acid (1:1). Density, dynamic viscosity, and electrical conductivity were measured at atmospheric pressure (p = 0.1 MPa) over 293.15–313.15 K. From density data, molar volumes and isobaric thermal expansion coefficients were calculated. The temperature dependence of viscosity was correlated with both Arrhenius and Vogel–Fulcher–Tammann equations. Conductivity results were used to compute molar conductivities, and the coupled conductivity–viscosity behavior was assessed via Walden analysis to quantify deviations from ideal electrolyte behavior and estimate ionicity. Thermal behavior and stability were evaluated by differential scanning calorimetry (DSC) and simultaneous thermogravimetric analysis (TG/DSC). The resulting dataset enables a consistent comparison of volumetric, flow, and ion transport descriptors across fully molecular terpene-based mixtures and TBPBr-containing systems. Overall, the combined transport descriptors, including Walden analysis, provide a practical framework for distinguishing molecular from salt-containing hydrophobic ESS families and support formulation selection for temperature-dependent applications, particularly in biphasic extraction processes. Full article

(This article belongs to the Section Molecular Liquids)

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18 pages, 2828 KB

Open AccessArticle

Functional Identification of AcsR, a MarR Family Transcriptional Regulator Involved in the Regulation of Aromatic Compound-Degrading Genes in Corynebacterium glutamicum

by Qimiao Shi, Runge Xu, Meng Shao, Shuli Wang, Ruixue Wang, Jinshuo Liu, Xiaona Li, Ruobing Wang, Ting Zou, Mingfei Yang, Meiru Si and Can Chen

Microorganisms 2026, 14(4), 920; https://doi.org/10.3390/microorganisms14040920 (registering DOI) - 18 Apr 2026

Abstract

The MarR (multiple antibiotic resistance regulator) family regulators, which are widely conserved across various organisms, play pivotal roles in metabolism, stress response mechanisms, and virulence factor production. However, the regulatory functions of these factors in the degradation of aromatic compounds within Corynebacterium glutamicum remain largely uncharacterized. In this study, we identified a MarR-type regulator, designated AcsR (encoded by ncgl2425), which directly represses the expression of the catechol 2,3-dioxygenase gene ncgl2007 (c23o) and the heavy metal (nickel) transport system permease gene ncgl2351, while activating the expression of ncgl2258 encoding an ABC-type C4-dicarboxylate-binding periplasmic protein. AcsR binds specifically as a dimer to a 6 bp inverted repeat sequence, and this binding is disrupted by catechol in vitro. Correspondingly, catechol induces the expression of c23o in vivo. Phenotypic analysis revealed that the ΔacsR mutant exhibited enhanced resistance to multiple aromatic compounds but increased sensitivity to antibiotics, heavy metals, and oxidants. Collectively, these findings demonstrate that AcsR is an important regulator of stress adaptation in C. glutamicum and provide new insights into the regulatory mechanisms of aromatic compound degradation in this industrially important bacterium. Full article

(This article belongs to the Section Molecular Microbiology and Immunology)

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22 pages, 943 KB

Open AccessArticle

Two-Step Engineering of Food-Grade Aspergillus oryzae via Endogenous Signal Peptides and Vesicle Trafficking Proteins to Enhance Carrier-Free Protein Secretion

by Sarocha Panchanawaporn, Nakul Rattanaphan, Sukanya Jeennor, Jutamas Anantayanon, Weerapong Woraprayote, Laphaslada Pumpuang, Thipphiya Karirat, Nuttamon Prompakdee, Kobkul Laoteng and Chanikul Chutrakul

J. Fungi 2026, 12(4), 289; https://doi.org/10.3390/jof12040289 (registering DOI) - 18 Apr 2026

Abstract

Heterologous protein secretion in filamentous fungi is often constrained by limitations in signal peptide recognition and intracellular trafficking. Aspergillus oryzae, a food-grade industrial fungus, has a robust native secretory system. However, its capacity for recombinant protein secretion remains suboptimal. Here, we developed a two-step, carrier-free engineering strategy to enhance protein secretion in A. oryzae. We identified endogenous signal peptides among highly secreted proteins using a green fluorescent protein (GFP) reporter. The oryzin signal peptide SPAoalp1 increased GFP secretion 5.50-fold compared with a no-signal-peptide control. We co-overexpressed Aosly1, a Sec1/Munc18 family protein that regulates soluble N-ethylmaleimide-sensitive factor attachment protein receptor–mediated vesicle trafficking, which, in combination with SPAoalp1, increased secretion approximately two-fold compared with SPAlp1 control and ten-fold with no-SP control. Applying the engineered platform for genetic improvement of heterologous bovine κ-casein increased secretion from 0.11 to 0.24 mg/L. Physiological optimization further increased secretion. The developed system provided initial evidence for secretion of a ~12 kDa band consistent with Aopafb transcription, with MIC₉₀ values of 4.56–8.24% (v/v) against two Candida albicans strains and 4.68% (v/v) against Aspergillus niger. The system offers a modular framework for engineering fungal secretion and expands the utility of A. oryzae for recombinant protein production. Full article

(This article belongs to the Special Issue Filamentous Fungi as Excellent Industrial Strains: Development and Applications, 2nd Edition)

17 pages, 3917 KB

Open AccessArticle

Characterizing the Fusarium incarnatum–equiseti Species Complex Associated with Muskmelon Wilt and Evaluating the Biocontrol Potential of Bacillus subtilis MCLB2

by Jui-Hsin Chang, Yu-Hsuan Chen, Jenn-Wen Huang and Tzu-Pi Huang

Agriculture 2026, 16(8), 900; https://doi.org/10.3390/agriculture16080900 (registering DOI) - 18 Apr 2026

Abstract

Muskmelon (Cucumis melo L.) is an economically important crop that remains highly susceptible to destructive fungal diseases, including gummy stem blight, downy mildew, Fusarium wilt, and anthracnose. Although fungicides and resistant cultivars are widely used, reliance on chemical control raises concerns regarding environmental safety, food quality, and the emergence of fungicide-resistant pathogen populations. Consequently, microbial biopesticides, particularly Bacillus species, have attracted increasing attention as sustainable alternatives. In this study, muskmelon plants exhibiting leaf wilting, chlorosis, and stem yellowing were collected from Guangming Farm in Wufeng, Taichung, Taiwan, and associated pathogens were isolated from stem tissues and identified to determine the causal agent of these symptoms. In addition, the biocontrol efficacy of Bacillus subtilis strain MCLB2 against melon fruit rot, as well as its underlying mechanisms, was evaluated. Pathogenicity assays confirmed that isolate F01 was the causal agent. Based on morphological characteristics and internal transcribed spacer (ITS) sequence analysis, this isolate showed 99.8% identity to Fusarium pernambucanum URM 7559 (GenBank accession no. NR_163754), and phylogenetic analysis further placed it within the Fusarium incarnatum–equiseti species complex (FIESC). Antagonistic assays demonstrated that B. subtilis MCLB2 significantly inhibited mycelial growth and suppressed the spore germination of F. pernambucanum. In addition, culture filtrates of strain MCLB2 effectively reduced Fusarium-induced fruit rot in melon and disrupted fungal cellular respiration. Liquid chromatography–tandem mass spectrometry (LC–MS/MS) analysis revealed that the strain produced surfactin-family lipopeptides. In conclusion, B. subtilis MCLB2 exhibits potential as a sustainable biocontrol agent for managing Fusarium fruit rot in melon, likely through surfactin-mediated disruption of fungal cellular respiration. Full article

(This article belongs to the Special Issue Biocontrol Agents for Plant Pest Management)

59 pages, 1124 KB

Open AccessArticle

“Their Bodies Were Made to Move and Wriggle Right from the Word Go”: A Qualitative Exploration of Family Engagement with Fundamental Movement Skills in Early Childhood

by Robert J. Flynn, Andy Pringle and Clare M. P. Roscoe

Children 2026, 13(4), 563; https://doi.org/10.3390/children13040563 (registering DOI) - 18 Apr 2026

Abstract

Background: Fundamental movement skills (FMS) underpin lifelong physical activity (PA) and health, yet many children are failing to meet age-appropriate standards. Caregivers hold a critical influence over children’s motor development, but little is known about what helps or hinders family participation, including messaging. This study explored the determinants of family FMS engagement in the United Kingdom (UK) during early childhood, addressing unexplored gaps in how guidance reaches families and the role of grandparents in supporting children’s motor development. Methods: Twenty-three semi-structured interviews were conducted with 15 caregivers and 8 educators, including 4 grandparents and 2 family hub practitioners who offered original insights. Eleven children aged 3–5 years completed a flexible draw-and-tell task, enabling inclusion of rarely represented 3-year-olds. Thematic analysis was deployed. Results: Families and outdoor spaces were pivotal to children’s movement opportunities. However, awareness and understanding of FMS and UK PA guidance were poor, even among educators, disrupting dissemination of information to families. Greater emphasis on PA and FMS concepts within professional development, alongside clearer signposting to resources, more visible public-facing campaigns, and digital formats, could improve how families receive these messages. Tensions emerged between parents’ concerns about grandparents’ physical capability and grandparents’ belief that they could adapt to support children’s development. Unexpectedly, no children drew technology despite screen time frequently displacing active play, hinting at its normalisation and regulatory role in children’s lives. Conclusions: To enhance family understanding, value, and participation in FMS, UK policy must evolve to become more visible, relatable, and responsive to diverse family needs. Full article

(This article belongs to the Special Issue Early Motor and Behavioral Disorders in Children)

30 pages, 990 KB

Open AccessReview

Surrogate-Based EM Design of RF and Microwave Components: A Systematic Review of Workflow Roles, Inverse Design, Multifidelity, and Active Learning

by Maria Prousali and Stelios Tsitsos

Sensors 2026, 26(8), 2504; https://doi.org/10.3390/s26082504 (registering DOI) - 18 Apr 2026

Abstract

Surrogate models have been increasingly used to reduce the computational cost of electromagnetic (EM) design in RF and microwave components. However, component types, surrogate model families, and design workflows vary substantially across the literature. This systematic review provides a structured synthesis of surrogate-assisted EM design and optimization for RF and microwave applications. A Scopus-based screening process was employed to identify 180 journal articles published between 2012 and February 2026. After eligibility assessment, 126 studies were included in the final review corpus, whereas 54 were excluded. Six previous review articles were used separately for contextual positioning. The studies included were classified according to component category, surrogate model family, surrogate usage mode, inverse-design approach, multifidelity integration, active-learning adoption, and workflow function. The results showed that antennas and filters dominate the literature, whereas the Gaussian process or Kriging models and neural networks are the most frequent surrogate families. Optimization-based inverse design is the most commonly used, whereas multifidelity and active learning are less common. Overall, the included literature indicates that surrogate-assisted design is widely represented in RF and microwave design studies. However, no study in the included literature corpus has implemented a unified workflow that combines surrogate modeling, inverse design, multifidelity interaction, and active learning. Full article

(This article belongs to the Special Issue Feature Papers in Communications Section 2025–2026)

29 pages, 1001 KB

Open AccessArticle

Parental Perspectives on Waldorf Education in Hungary: Community Participation and Long-Term Educational Commitment

by Bálint Nagy and László Bognár

Educ. Sci. 2026, 16(4), 648; https://doi.org/10.3390/educsci16040648 (registering DOI) - 18 Apr 2026

Abstract

Parental involvement is widely recognized as a key component of effective schooling, particularly in educational environments that emphasize community, developmental continuity, and holistic pedagogy. Alternative education models such as Waldorf schools have expanded internationally, yet empirical evidence on how parents perceive and structure their experiences within these institutions remains limited. This study investigates parental perceptions of Waldorf education in Hungary through a nationwide questionnaire survey of 585 parents whose children attend Waldorf schools. To explore the latent structure of parental evaluations, Exploratory Factor Analysis was conducted, followed by Confirmatory Factor Analysis to test the stability of the resulting model. The analyses identified four coherent dimensions of parental experience: Trust and Pedagogy, Community and Engagement, Perceived Long-Term Educational Prosperity, and Information and Transparency. Additional analyses examined how these dimensions vary according to institutional characteristics, parental participation in school community activities, and intentions regarding long-term enrollment. The results indicate that pedagogical trust constitutes a relatively stable evaluative dimension across institutions, while perceptions related to community engagement, long-term educational prospects, and transparency are more strongly associated with institutional maturity. Parents who intend to remain in Waldorf education until the completion of upper secondary schooling report consistently higher evaluations across all dimensions. By empirically identifying the structure of parental experiences in a European alternative education context, the study contributes to research on parental engagement, school choice, and the institutional cultures of alternative schooling. Full article

20 pages, 757 KB

Open AccessArticle

Factors Influencing Stress in Families of Individuals with Illness or Disability: A Qualitative Study Based on Family System Unit Stress Theory

by Aoba Kadono and Naohiro Hohashi

Healthcare 2026, 14(8), 1081; https://doi.org/10.3390/healthcare14081081 (registering DOI) - 18 Apr 2026

Abstract

Background/Objectives: Stress experienced by families of individuals with illnesses or disabilities is shaped through the interaction of multiple complex influencing factors. This study aimed to elucidate the factors influencing stress in families of young/adult children with illnesses or disabilities, using Family System Unit Stress Theory (FSUST) as the guiding theoretical framework. Methods: Semi-structured interviews were conducted with 10 families of young/adult children with illnesses or disabilities. Data were analyzed using qualitative content analysis following the approach of Graneheim and Lundman. In line with FSUST, the identified influencing factors were categorized into negative factors (risk/causal/promoting) and positive factors (preventive/inhibitory/suppressive). Results: A total of six categories and 18 subcategories were extracted for the risk/causal/promoting factors, including “accumulation of unshared burdens within the family leading to role overload” and “concerns about the future of the young/adult child.” For the preventive/inhibitory/suppressive factors, five categories and 13 subcategories were extracted, including “receiving a diagnosis of the young/adult child’s illness or disability” and “family maintaining a positive attitude.” Conclusions: Family stress in families of young/adult children with illnesses or disabilities varies through the interaction of multilayered influencing factors, including persistent emotions carried over from the past, difficulties faced in the present, and anticipatory concerns regarding the future. Therefore, nursing practice requires a life course-oriented understanding of family stress and an integrated approach that concurrently reduces risk/causal/promoting factors while enhancing preventive/inhibitory/suppressive factors. Full article

(This article belongs to the Special Issue The Science of Family Nursing—Advancing Health Across Contexts)

35 pages, 1503 KB

Open AccessReview

Sustainable Bio-Based Plasticizers: Advances in Polyols and Natural Compound Derivatives from Sorbitol, Glycerol, Cardanol, and Limonene

by Asma M. Ghazzy, Ala’a S. Shraim, Tabarak R. Al-Sammarraie, Wurood M. Al-Mohammadi and Afnan H. Al-Hunaiti

Polymers 2026, 18(8), 985; https://doi.org/10.3390/polym18080985 (registering DOI) - 18 Apr 2026

Abstract

The rapidly growing concern over the hazardous impact of phthalates on the environment and public health has led to a critical need for alternative and environmentally friendly plastics. Plasticizers developed from natural materials represent one possible solution. This paper explores four types of renewable feedstocks (sorbitol/polyols, glycerin, cardanol from cashew nutshell liquid, and limonene from citrus peels) as sources for developing alternative plasticizer systems. Key areas explored include the type of feedstock utilized, the methods used for extracting or processing the feedstocks, the nature of the chemical modification processes (e.g., esterification, epoxidation, etherification, or reactive grafting) applied to generate the respective plasticizers, and the resultant physical and mechanical properties. The performance of each plasticizer system in polymers such as PVC, PLA, and polysaccharide-based bioplastics is evaluated, alongside the compatibility with biological tissues, toxicological properties, biodegradability, and chemical migration into food simulants. The feasibility of each family of plasticizers is also assessed from an economic perspective, including availability of the feedstocks, economies of scale associated with large-volume production, and competitive pricing relative to established petroleum-derived plasticizers. Overall, sorbitol/polyol and glycerin derivative families have reached a level of maturity that provides a good balance of processability, food-contact safety, and biodegradability. Cardanol-based systems provide an attractive option where aromatic functional groups and combined plasticization–stabilization effects are needed. Limonene-derived plasticizer systems appear promising for use in PLA, but their broader utility may be limited by volatility, strong odors, and susceptibility to oxidation. Common issues identified across all four families include chemical migration into food products, regulatory approval, and the need for detailed life-cycle assessments. Full article

(This article belongs to the Special Issue Advanced Polymer Materials for Sustainable Energy Storage, Conversion, and Production)

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16 pages, 5290 KB

Open AccessArticle

Genome-Wide Identification and Tissue-Specific Expression Analysis of the FtAQP Gene Family in Tartary Buckwheat (Fagopyrum tataricum)

by Wenxuan Chu, Zhikun Li, Ziyi Zhang, Yutong Zhu, Yan Zeng, Ruigang Wu and Xing Wang

Genes 2026, 17(4), 479; https://doi.org/10.3390/genes17040479 - 17 Apr 2026

Abstract

Background: Tartary buckwheat (Fagopyrum tataricum) serves as an excellent model for studying plant water adaptation mechanisms due to its exceptional drought tolerance. While aquaporins (AQPs) mediate the transmembrane transport of water and solutes in plants, their fine-tuned regulatory networks underlying stress resilience in Tartary buckwheat remain largely elusive. Methods: Here, we combined bioinformatics and transcriptomics to systematically identify 30 highly conserved FtAQP genes at the genome-wide level. Results: Cross-validated by qRT-PCR, our analysis revealed their distinct expression patterns across different organs. Based on our transcriptomic data, we hypothesize that FtAQP family members potentially participate in a coordinated whole-plant water management network through differential spatiotemporal expression. Specifically, the robust transcription of FtAQP8, FtAQP12, and FtAQP28 in roots is associated with the initial water uptake process. As water undergoes long-distance transport, the synergistic upregulation of FtAQP13, FtAQP17, FtAQP20, and FtAQP29 in the stem suggests a potential role in facilitating critical lateral water flow. Furthermore, during reproductive development, FtAQP27 exhibits extreme tissue specificity in floral organs, implying its possible involvement in maintaining local osmotic homeostasis. Furthermore, the promoter regions of FtAQPs are highly enriched with cis-acting elements responsive to light, abscisic acid (ABA), and cold stress, suggesting they are intimately regulated by a coupling of endogenous phytohormones and environmental cues. Conclusions: Ultimately, this study provides valuable insights into the potential molecular basis of multidimensional water regulation in Tartary buckwheat, and identifies candidate genetic targets for improving water use efficiency in dryland agriculture through the precise manipulation of aquaporins. Collectively, while these observational findings provide valuable predictive models, future in vivo experimental validations are required to confirm their exact biological functions. Full article

(This article belongs to the Topic Genetic Engineering in Agriculture, 2nd Edition)

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30 pages, 3986 KB

Open AccessArticle

Molecular Diagnosis and Phenotypic Variability of Noonan Syndrome: Experience from a Romanian Multicenter Study

by Florina Victoria Nazarie, Mihaela Amelia Dobrescu, Cecilia Lazea, Ana Adriana David, Crina Șufană, Simona Bucerzan, Simona Sorana Cainap, Raluca Rancea, Oana Stănoiu-Pînzariu, Ionela Maria Pascanu, Radu Anghel Popp, Laura Ancuta Pop, Călin Lazăr, Camelia Alkhzouz, Diana Miclea and Romana Vulturar

Diagnostics 2026, 16(8), 1207; https://doi.org/10.3390/diagnostics16081207 - 17 Apr 2026

Abstract

Background: RASopathies represent a clinically and genetically diverse group of syndromes resulting from germline mutations in genes regulating the RAS/mitogen-activated protein kinase (MAPK) signaling cascade. Methods: The aim of this study was to describe the clinical features and genetic variants identified in patients with genetically confirmed Noonan syndrome (NS) in a limited cohort from Romania. A total of 25 patients with positive genetic testing for NS-associated genes were included. Genetic testing was performed primarily using next-generation sequencing. Results: A total of twenty-six variants were identified in twenty-five patients, as one patient carried two pathogenic variants in the PTPN11 gene (c.188A>G and c.922A>G). Of these variants, twenty-four (92.31%) were classified as pathogenic and two (7.69%) as variants of uncertain significance (VUS). Pathogenic variants were found in different genes, including PTPN11, LZTR1, SOS1, and RAF1, with PTPN11 being the most frequently affected gene. Males predominated (17/25), with a male-to-female ratio of approximately 2:1. Two patients inherited the pathogenic variant from an affected parent. Cardiovascular involvement was present in 21 patients (84%), with pulmonary valve stenosis (PVS) being the most common finding (48%), followed by hypertrophic cardiomyopathy (16%). Additional cardiac anomalies included atrial septal defect, valvular regurgitation, dysplastic valves, coarctation of the aorta, and sinotubular junction narrowing. Short stature was observed in 64% of patients, and craniofacial dysmorphism was present in 96%. Cutaneous, ectodermal, dental, ophthalmologic, and auditory manifestations were variably observed. Conclusions: Although based on a limited cohort from Romania, this study provides insights into clinical features suggestive of NS. Our findings highlight the genetic heterogeneity of NS and emphasize the importance of comprehensive genetic testing for confirming diagnosis, guiding clinical management, and supporting family counseling. Full article

(This article belongs to the Special Issue Genomics in Cardiac Diagnostics: Bridging Novel Insights to Clinical Practice)

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