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Keywords = genetic control

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18 pages, 2546 KB  
Article
Distinct Adaptive Patterns in Root System Architecture of Synthetically Derived Wheat Lines under High-Air-Temperature Stress
by Sultan Md Monwarul Islam, Izzat Sidahmed Ali Tahir and Kinya Akashi
Stresses 2026, 6(2), 33; https://doi.org/10.3390/stresses6020033 (registering DOI) - 8 Jun 2026
Abstract
High-temperature stress poses a major threat to wheat productivity across multiple developmental stages, including early seedling growth. Root system architecture (RSA) contributes to stress adaptation; however, its responses to high-temperature stress remain insufficiently characterized in genetically diverse wheat populations. In this study, RSA [...] Read more.
High-temperature stress poses a major threat to wheat productivity across multiple developmental stages, including early seedling growth. Root system architecture (RSA) contributes to stress adaptation; however, its responses to high-temperature stress remain insufficiently characterized in genetically diverse wheat populations. In this study, RSA responses of representative genotypes from a Multiple Synthetic Derivative (MSD) wheat population were evaluated under control and high-air-temperature conditions using a time-resolved, two-dimensional phenotyping platform. High-air-temperature stress significantly affected most root traits, with traits associated with lateral root expansion, including the second-pair seminal root length, root system width, and convex hull area, being more responsive than vertical root traits. MSD417 and MSD034 maintained relatively higher root performance under high-temperature stress, whereas MSD392 showed pronounced sensitivity. In contrast, MSD054 exhibited relatively small changes in root traits but consistently low overall performance. Multivariate analyses and stress indices consistently differentiated tolerant, sensitive, and low-responsive genotypes. These findings highlight the importance of distinguishing active stress tolerance from passive stability and suggest that lateral-root-related traits may serve as useful targets for breeding heat-resilient wheat. Full article
(This article belongs to the Section Plant and Photoautotrophic Stresses)
31 pages, 698 KB  
Review
Basic Research on Whitefly Molecular Biology: A Foundation for Innovative Pest Management Strategies
by Sonia Hussain and Georg Jander
Curr. Issues Mol. Biol. 2026, 48(6), 605; https://doi.org/10.3390/cimb48060605 (registering DOI) - 8 Jun 2026
Abstract
Bemisia tabaci (whitefly; Hemiptera: Aleyrodidae), a complex of morphologically similar but genetically distinct species, causes enormous agricultural damage worldwide. Farmers incur billions of dollars in losses each year from whiteflies, both through direct feeding damage and from the transmission of numerous plant viruses. [...] Read more.
Bemisia tabaci (whitefly; Hemiptera: Aleyrodidae), a complex of morphologically similar but genetically distinct species, causes enormous agricultural damage worldwide. Farmers incur billions of dollars in losses each year from whiteflies, both through direct feeding damage and from the transmission of numerous plant viruses. Important crops that are heavily damaged by whiteflies include tomato, eggplant, cucumber, cotton, cucurbits, beans, and cassava. The global invasiveness and persistence of B. tabaci are largely attributed to its exceptional biological traits. Understanding these traits is essential for developing effective, long-term pest management strategies. This review describes in detail how the basic biology studies of B. tabaci provide a foundation for developing pest management strategies. Specifically, we discuss: (1) insights into the development of insecticide resistance can guide resistance management strategies; (2) knowledge of natural enemies supports the advancement of biological control approaches; and (3) understanding plant–insect interactions reveals molecular targets for innovative pest management solutions. We also examine emerging research trends and offer future perspectives on how ongoing studies may drive the development of next-generation control strategies (RNA interference, clustered regularly interspaced short palindromic repeats—CRISPR-associated protein 9 (CRISPR-Cas9), and horizontally transferred genes as targets). Full article
(This article belongs to the Section Biochemistry, Molecular and Cellular Biology)
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21 pages, 1686 KB  
Article
Strong Regional Structure in the Population Genetics of Reef-Associated Bluebacked Sprat, Spratelloides delicatulus, Along the Great Barrier Reef
by Kynan Hartog-Burnett, Kyall R. Zenger, Gabriele Gerlach and Michael J. Kingsford
J. Mar. Sci. Eng. 2026, 14(12), 1070; https://doi.org/10.3390/jmse14121070 - 8 Jun 2026
Abstract
Clupeiform bait fishes play critical roles in marine food chains and fisheries worldwide. Despite a paradigm of large stocks in temperate regions, the structure of clupeiform populations in complex coral reef environments is poorly described. This study assessed the population structure of a [...] Read more.
Clupeiform bait fishes play critical roles in marine food chains and fisheries worldwide. Despite a paradigm of large stocks in temperate regions, the structure of clupeiform populations in complex coral reef environments is poorly described. This study assessed the population structure of a small reef-based clupeiform, Spratelloides delicatulus, over spatial scales of kilometres to 1000’s of kilometres on the Great Barrier Reef using sequence data from the control region of the mitochondrial D-Loop. Following confirmation of the species, we found strong stock structure within the metapopulation of the GBR. Three significantly different stock units were found, and these were closely related to three strongly divergent clades that were associated with changes in latitude. Within these stocks, a surprisingly strong structure was observed among reefs separated at scales of less than 10 km. This species likely has a complex demographic history with recent expansion and potential for incipient cryptic speciation evident by the sympatry observed at some reefs. The short lives and complex stock structure we have found for sprats on coral reefs contrasts with the findings from traditional stocks of high latitude clupeiforms. Full article
(This article belongs to the Special Issue Taxonomy, Diversity and Distribution of Marine Clupeiformes)
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44 pages, 870 KB  
Review
Vitamin D-Related Signaling and Epigenetic Regulation: Evidence from Experimental, Observational, and Interventional Studies
by Hanna Kozłowska, Edyta Cichocka, Sylwia Barbara Górczyńska-Kosiorz and Janusz Gumprecht
Pharmaceuticals 2026, 19(6), 906; https://doi.org/10.3390/ph19060906 - 8 Jun 2026
Abstract
The active vitamin D metabolite, 1,25-dihydroxycholecalciferol [1,25(OH)2D], exerts its biological effects through binding to the vitamin D receptor (VDR), a ligand-activated transcription factor regulating the expression of genes involved in calcium and phosphate homeostasis, immune modulation, and cell proliferation and differentiation. [...] Read more.
The active vitamin D metabolite, 1,25-dihydroxycholecalciferol [1,25(OH)2D], exerts its biological effects through binding to the vitamin D receptor (VDR), a ligand-activated transcription factor regulating the expression of genes involved in calcium and phosphate homeostasis, immune modulation, and cell proliferation and differentiation. In addition to direct transcriptional regulation, 1,25(OH)2D signaling also involves epigenetic mechanisms. A total of 90 studies were included in this narrative review, comprising experimental studies (n = 45), observational studies (n = 17), population-based studies (n = 8), interventional studies (n = 15), and mixed-design studies (n = 5). Experimental studies in cell cultures and animal models demonstrate that 1,25(OH)2D may affect several major epigenetic regulatory pathways, including chromatin remodeling, DNA methylation, histone modifications, and the expression of non-coding RNAs, particularly microRNAs. Preclinical evidence suggests that the epigenetic actions of 1,25(OH)2D are involved in metabolic regulation, immune responses, bone development, fibrotic processes, carcinogenesis, ageing, and fetal programming. However, evidence from observational studies and randomized controlled trials remains limited and inconclusive. Some studies have reported alterations in miRNA expression, methylation of selected loci, and epigenetic age markers. The clinical relevance of 1,25(OH)2D–mediated epigenetic regulation has not yet been fully established. The interpretation of available findings is limited by substantial heterogeneity in study populations, exposure and intervention protocols, environmental factors, interindividual variability in response to vitamin D supplementation associated with genetic polymorphisms and methylation status, and the restricted range of analyzed cell types. This subject requires randomized controlled trials integrating molecular endpoints with clinically relevant outcomes. Full article
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23 pages, 8254 KB  
Article
Deep-Seated Processes Controlling Mesozoic Differential Metallogeny in the Southern Region of South China: Insights from Hf-Nd Isotope Mapping
by Yuqing Yin, Bo Xu, Maowen Yuan, Zhuang Miao, Jin Wang, Zihao Wen, Tianli Jin, Peidong Chai, Wenqi Song, Shiying Fu and Masroor Alam
Geosciences 2026, 16(6), 230; https://doi.org/10.3390/geosciences16060230 - 8 Jun 2026
Abstract
The southern region of the South China Block hosts a super-large metallogenic province. However, the Mesozoic differential metallogeny between the southern Cathaysia Block (W-Sn) and the southern Yangtze Block (Au-Sb) remains enigmatic. To characterize the crustal architecture beneath different metallogeny belts, we integrate [...] Read more.
The southern region of the South China Block hosts a super-large metallogenic province. However, the Mesozoic differential metallogeny between the southern Cathaysia Block (W-Sn) and the southern Yangtze Block (Au-Sb) remains enigmatic. To characterize the crustal architecture beneath different metallogeny belts, we integrate 3239 published εHf(t) values of synmagmatic zircons from Mesozoic igneous rocks and corresponding whole-rock εNd(t) datasets to generate coupled Hf–Nd isotopic mappings. The results show that εHf(t) values range from −19.3 to +11.6 (TDM2: 464–2419 Ma) and εNd(t) values are from −12.2 to +5.0 (TDM2: 580–2008 Ma) in the southern part of South China Block. High εHf(t) (−4~+11.6) and εNd(t) (−4~+5.0) zones are concentrated along the Honghe Fault and Chenzhou–Linwu Fault systems, while low-value Hf–Nd isotopic (εHf(t) = −10.6 to −4; εNd (t) = −12.2 to −4) zones are mainly distributed in the interior of the southern Yangtze Block. The W-Sn deposits in the southern Cathaysia Block are genetically linked to the heterogeneous εHf(t)-εNd(t) isotopic domains. The ore-forming materials of these high-temperature W-Sn polymetallic deposits may primarily derive from crust hybrid magmas that have undergone multistage crustal reworking. In contrast, low-temperature Au-Sb deposits in the northern Youjiang basin are distributed in areas characterized by elevated εHf(t)-εNd(t) isotopic signatures, which are primarily derived from reworked crust with significant mantle contributions. Most magmatic rock-associated Au deposits tend to cluster at the boundaries of Hf-Nd isotopic anomalies, which indicates the contribution of crust-mantle interaction to Au mineralization. Our Hf-Nd isotopic mappings reveal that mantle-crust deep-seated process controls the Mesozoic differential metallogeny between the southern Cathaysia Block (W-Sn) and the southern Yangtze Block (Au-Sb). Full article
(This article belongs to the Special Issue Isotope Geochemistry: New Techniques and Applications)
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15 pages, 3153 KB  
Article
Pushing the Boundaries of Biomarker Discovery in Phenylketonuria: Metabolomic Profiling Reveals Novel Biomarkers and Their Associations with Phenylalanine
by Reem AlMalki, Shereen M. Aleidi, Maha Al Mogren, Shaima Almohsen, Khalid M. Sumaily, Ahmed Alfares and Anas M. Abdel Rahman
Molecules 2026, 31(12), 2000; https://doi.org/10.3390/molecules31122000 - 8 Jun 2026
Abstract
Background: Phenylketonuria (PKU) is a rare genetic disorder caused by mutations in the phenylalanine hydroxylase (PAH) gene, resulting in a deficiency of the enzyme responsible for metabolizing phenylalanine (Phe) and its accumulation. PKU can be identified through newborn screening (NBS) or genetic sequencing; [...] Read more.
Background: Phenylketonuria (PKU) is a rare genetic disorder caused by mutations in the phenylalanine hydroxylase (PAH) gene, resulting in a deficiency of the enzyme responsible for metabolizing phenylalanine (Phe) and its accumulation. PKU can be identified through newborn screening (NBS) or genetic sequencing; however, both approaches have limitations, including high false-discovery rates and variants of uncertain significance (VUS). This study aims to identify a PKU metabolomic profile using unique biomarkers to enhance early diagnosis and improve treatment outcomes. Methods: Dried blood spot (DBS) samples from 65 patients diagnosed with PKU and matched healthy controls were collected through the NBS program. An untargeted metabolomics analysis was conducted using liquid chromatography-high-resolution mass spectrometry (LC-HRMS) to profile metabolites and investigate altered metabolic pathways in patients with PKU. Results: A total of 418 significantly dysregulated metabolites were identified in PKU patients. Among them, 90 metabolites were identified as endogenous human metabolites. The most significantly affected pathways were those related to the metabolism of aromatic amino acids and polysaccharides. Moreover, lipid metabolic pathways were dysregulated, including those involved in fatty acid and phospholipid biosynthesis. In addition to phenylalanine (AUC = 0.994), 1,11-Undecanedicarboxylic acid (UDCA) (AUC = 0.969) was significantly elevated in patients with PKU, suggesting it is a promising potential biomarker for PKU. Conclusions: Untargeted metabolomics revealed distinct metabolic alterations in patients with PKU, providing insights into disease pathophysiology. The identification of UDCA as a consistently elevated metabolite supports its potential utility as a supplementary biomarker for PKU diagnosis and monitoring. Further validation in larger cohorts, using a targeted metabolomics approach, is warranted. Full article
(This article belongs to the Special Issue The Application of LC-MS in Pharmaceutical Analysis—2nd Edition)
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22 pages, 15551 KB  
Article
Optimal Configuration Strategy for Flexible DC Control Parameters Considering System Operational Constraints
by Qiang Guo, Nan Feng, Yuyao Feng, Aiqiang Pan and Tao Niu
Processes 2026, 14(12), 1849; https://doi.org/10.3390/pr14121849 - 7 Jun 2026
Abstract
With the large-scale integration of renewable energy sources, the stability and control of flexible DC (VSC-HVDC) grid-connected systems have become critical issues. This paper proposes an optimal configuration strategy for the control parameters of grid-forming VSC-HVDC systems considering multiple operational constraints. First, a [...] Read more.
With the large-scale integration of renewable energy sources, the stability and control of flexible DC (VSC-HVDC) grid-connected systems have become critical issues. This paper proposes an optimal configuration strategy for the control parameters of grid-forming VSC-HVDC systems considering multiple operational constraints. First, a state-space model of the grid-forming VSC-HVDC system connected to a wind farm is established, and the effects of key control parameters on the small-signal stability are analyzed using eigenvalue and participation factor methods. Then, based on the stability analysis, an optimization model is constructed with the objectives of minimizing the steady-state DC operating voltage under operational constraints and maximizing system damping. To solve the optimization problem, the NSGA-II genetic algorithm is employed. Case studies in MATLAB/Simulink demonstrate that the proposed method effectively enhances the small-signal stability of the system across various operating points, reduces overshoot and settling time during power step changes, and ensures stable operation under the maximum transferable power limit. The results verify the robustness and effectiveness of the proposed parameter configuration strategy, providing a practical approach for the design and tuning of grid-forming VSC-HVDC systems in renewable energy integration applications. Full article
(This article belongs to the Section Energy Systems)
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22 pages, 2029 KB  
Review
Impact of Air Pollution on Metabolic Dysfunction-Associated Fatty Liver Disease
by Duoduo Lv, Heyu Tang and Lingyun Zhou
Int. J. Mol. Sci. 2026, 27(12), 5168; https://doi.org/10.3390/ijms27125168 - 7 Jun 2026
Abstract
Metabolic dysfunction-associated fatty liver disease (MAFLD) is now recognized as a leading form of chronic liver disease globally and is strongly associated with metabolic abnormalities. Traditionally, the pathogenesis of MAFLD has mainly been attributed to genetic susceptibility and unhealthy lifestyles (such as high-calorie [...] Read more.
Metabolic dysfunction-associated fatty liver disease (MAFLD) is now recognized as a leading form of chronic liver disease globally and is strongly associated with metabolic abnormalities. Traditionally, the pathogenesis of MAFLD has mainly been attributed to genetic susceptibility and unhealthy lifestyles (such as high-calorie diets and sedentary behavior). However, in recent years, environmental factors, especially air pollution, have been confirmed as independent risk factors and important promoting factors for MAFLD development and further disease progression. This review summarizes current epidemiological findings on the link between air pollution exposure and MAFLD, while exploring its potential biological mechanisms involving systemic inflammation, oxidative stress, immune alteration, genetic risk, and epigenetic regulation underlying the relationship between air pollution and hepatic steatosis. It also reviews the additive interaction between air pollution and lifestyle or socioeconomic factors in MAFLD. Finally, we also discuss multilevel strategies spanning individual-, community-, national-, and global-level cooperation to address the increasing public health burden caused by air pollution. Therefore, incorporating the assessment and control of air pollution into the comprehensive strategies for MAFLD prevention and treatment has important scientific value and public health significance. Full article
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15 pages, 8695 KB  
Review
Modeling the Clockwork of Bone: A Narrative Review of Experimental Approaches to Circadian Rhythm in Bone Metabolism
by Xiang Gao, Xinyuan Cai and Andreas K. Nussler
Int. J. Mol. Sci. 2026, 27(12), 5167; https://doi.org/10.3390/ijms27125167 - 7 Jun 2026
Viewed by 24
Abstract
Circadian rhythms are fundamental regulators of skeletal homeostasis, coordinating osteoblast and osteoclast activity through tightly controlled temporal programs. Disruption of these rhythms, whether through environmental misalignment or genetic perturbation of core clock components, alters bone formation, enhances resorption, and contributes to skeletal fragility. [...] Read more.
Circadian rhythms are fundamental regulators of skeletal homeostasis, coordinating osteoblast and osteoclast activity through tightly controlled temporal programs. Disruption of these rhythms, whether through environmental misalignment or genetic perturbation of core clock components, alters bone formation, enhances resorption, and contributes to skeletal fragility. This review synthesizes current knowledge on circadian regulation of bone biology across in vivo, ex vivo, and in vitro model systems, highlighting how each platform reveals distinct aspects of rhythmic gene expression, cellular function, and tissue-level remodeling. We critically evaluate the strengths and limitations of these models, outline key controversies such as the interpretation of global clock-gene knockouts, and discuss the emerging relevance of human-derived systems including iPSC-based models, organoids, and microphysiological “bone-on-chip” platforms. Integrative approaches that combine multiple model systems provide the most reliable framework for understanding circadian control of bone and for identifying targets for chronotherapeutic intervention. Advancing human-relevant models and refining temporal experimental design will be essential for translating circadian biology into clinical strategies for metabolic bone diseases. Full article
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17 pages, 5092 KB  
Article
Novel Potential Risk Loci for Migraine in the Portuguese Population
by Rodrigo De Marco, Kevin Pucci, Mariana Santos, Raquel Gil-Gouveia, Bruno Cavadas, Alda Sousa, Miguel Alves-Ferreira, Luísa Azevedo, Carolina Lemos and Andreia Dias
Int. J. Mol. Sci. 2026, 27(12), 5165; https://doi.org/10.3390/ijms27125165 - 6 Jun 2026
Viewed by 172
Abstract
Common forms of migraine are complex disorders characterized by significant clinical diversity. Their genetic basis has been extensively studied but remains unclear. This study represents the first pilot genome-wide association study (GWAS) integrating a polygenic risk score (PRS) in the Portuguese population, designed [...] Read more.
Common forms of migraine are complex disorders characterized by significant clinical diversity. Their genetic basis has been extensively studied but remains unclear. This study represents the first pilot genome-wide association study (GWAS) integrating a polygenic risk score (PRS) in the Portuguese population, designed to identify migraine susceptibility loci through a case–control study and unravel population-specific variants. Genotyping data was acquired with Applied Biosystems Axiom™ PMDA array, producing 12,035,248 single-nucleotide polymorphisms (SNPs) post-imputation, providing a comprehensive scope for GWAS analysis. PRS models were created and tested using a k-folds cross-validation framework and the optimal significance threshold was assessed. We detected 12 potential risk loci corresponding to 12 lead SNPs (RP11-204N11.2, CTA-481E9.4/CTA-481E9.3, RAP1A, TIGD4, CADPS2, RP11-46E17.6, RP4-569D19.5, RP11-398K14.1, PCBP1-AS1, TCF15, IL6R and UNC13A). The top three variants (RP11-204N11.2, CTA-481E9.4/CTA-481E9.3 and RAP1A) were also supported by the PRS model. We highlight that several variants present putative biological relevance to migraine pathophysiology, reinforcing the importance of neurotransmitter release, synaptic transmission and the involvement of vascular components in migraine pathophysiology. Full article
(This article belongs to the Section Molecular Genetics and Genomics)
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17 pages, 5470 KB  
Review
Present Situation of Cystic Echinococcosis in Africa: A Narrative Review
by Guo-Qiang Zhu, Abbas Abdelkerim Adam Daoud, Gui-Xiang Teng, Zheng-Yang Niu, Xin Feng, Xiao-Pei Luo, Constantine Uwaremwe, Nigus Abebe Shumuye, Hussam Askar, Hong-Bin Yan and Li Li
Vet. Sci. 2026, 13(6), 562; https://doi.org/10.3390/vetsci13060562 - 6 Jun 2026
Viewed by 224
Abstract
Cystic echinococcosis (CE) caused by the parasite Echinococcus granulosus is a zoonotic disease of global concern. Because most African countries have not yet conducted systematic studies on CE, it is difficult to determine its exact status. However, as with any parasitic zoonotic disease, [...] Read more.
Cystic echinococcosis (CE) caused by the parasite Echinococcus granulosus is a zoonotic disease of global concern. Because most African countries have not yet conducted systematic studies on CE, it is difficult to determine its exact status. However, as with any parasitic zoonotic disease, the first step in developing a comprehensive management and control strategy is to identify the host range, transmission risk factors, and national and regional epidemiological data. This review evaluated and summarized articles on CE retrieved from the PubMed and Africa Journal Online (AJOL) databases. Inclusion criteria were studies (including case reports) focused on the prevalence of CE in animals and humans between 1970 and 2025. This review revealed that although numerous early studies on CE exist, only a few were conducted in Africa from 1970 to 2025. Furthermore, data regarding population genetic composition and the role of wildlife in CE transmission remain scarce. This review systematically evaluated the prevalence and transmission of CE in Africa and identified priority areas for surveillance and control. Full article
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24 pages, 7544 KB  
Article
F1 Coffee Hybrids: Combining High Productivity with Genetic Resistance to Coffee Berry Borer, Hypothenemus hampei (Ferrari) (Coleoptera: Curculionidae)
by Carmenza E. Góngora, Juan Carlos Arias-Suarez, Marisol Giraldo-Jaramillo, Rubén Medina-Rivera, Roosevelt Escobar and Claudia Patricia Flórez-Ramos
Horticulturae 2026, 12(6), 704; https://doi.org/10.3390/horticulturae12060704 - 6 Jun 2026
Viewed by 299
Abstract
To identify Coffea arabica genotypes with enhanced resistance to the coffee berry borer (CBB), Hypothenemus hampei, two wild accessions (C306 and C534) and their derived hybrids were evaluated. Four F1 genotypes—H1 (CU1842 × C306), H2 (CX2385 × C534), H3 (CX2385 × C306), [...] Read more.
To identify Coffea arabica genotypes with enhanced resistance to the coffee berry borer (CBB), Hypothenemus hampei, two wild accessions (C306 and C534) and their derived hybrids were evaluated. Four F1 genotypes—H1 (CU1842 × C306), H2 (CX2385 × C534), H3 (CX2385 × C306), and H4 (CX2848 × C534)—were generated and subsequently mass-propagated in vitro via somatic embryogenesis. In the original F1 hybrids, laboratory bioassays using artificial coffee diets showed that while CBB mortality in susceptible controls (Var. Caturra and maternal lines) did not exceed 15%, paternal lines induced 31–49%, and hybrids H1 and H3 reached 26%. Population suppression was further quantified in infested parchment coffee, where these hybrids exhibited intermediate CBB numbers between parents. Subsequent field evaluations in Caldas, Colombia, confirmed that H1 and H3 maintained CBB populations up to 43% lower than maternal lines (p < 0.05). To verify the stability of the resistance trait after clonal multiplication, a five-year field study was conducted in Risaralda, Colombia, using in vitro-propagated clones. These regenerated hybrids (H1, H2, and H3) demonstrated stable phenotypic expression, achieving up to a 70% reduction in CBB populations in the field compared to commercial varieties. Specifically, H1 and H3 clones induced significantly higher insect mortality (up to 47%) and superior population suppression. Furthermore, by manifesting hybrid vigor, cumulative production was significantly higher in all four hybrids than in commercial controls, with H3, H1, and H4 exhibiting the highest yields. Based on the dual criteria of useful heterosis for yield and stable pest resistance, these results identify the most promising hybrid combinations which integrate elite agronomic traits with stable resistance, providing a strategic genetic resource for sustainable coffee production under climatic change conditions. Full article
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16 pages, 3889 KB  
Article
The Role of Gut Microbiome in Mild Cognitive Impairment: A Twin Study
by Aliz Persely, Marton Piroska, Luca Zoldi, Beatrix Beszedics, Janos Juhasz, Nora Makra, Zsuzsanna A. Dunai, Dora Szabo, David Laszlo Tarnoki and Adam Domonkos Tarnoki
Medicina 2026, 62(6), 1106; https://doi.org/10.3390/medicina62061106 - 6 Jun 2026
Viewed by 135
Abstract
Background and Objectives: Recent studies have revealed the potential roles of gut microbiota and microbial metabolites in influencing mild cognitive impairment (MCI) and Alzheimer’s disease via the gut–brain axis. This relationship has not yet been investigated in monozygotic twin pairs, which represent [...] Read more.
Background and Objectives: Recent studies have revealed the potential roles of gut microbiota and microbial metabolites in influencing mild cognitive impairment (MCI) and Alzheimer’s disease via the gut–brain axis. This relationship has not yet been investigated in monozygotic twin pairs, which represent an ideal model for minimizing genetic confounding. Materials and Methods: Seven twin pairs discordant for ACE and 15 for MoCA were enrolled. Stool samples were subjected to 16S ribosomal RNA-based microbiome analysis. Results: No significant differences in alpha or beta diversity were observed between MCI-discordant twin pairs at the genus or family level. The most robust finding was a significantly lower abundance of Lachnospiraceae in MCI-affected twins, identified independently by ANCOM-BC and LEfSe. Additional exploratory findings included higher abundances of Sutterella, Succinivibrio, Odoribacter, and Ruminococcus. However, several taxa showed opposing patterns between ACE- and MoCA-derived cohorts, highlighting the methodological impact of cognitive instrument selection. Conclusions: The convergent reduction of Lachnospiraceae across two independent analytical methods represents the most substantive finding. The remaining results are exploratory, limited by small sample size, restricted statistical power, and lack of availability to fully control for dietary habits, physical activity, and medication use. Validation in larger longitudinal twin cohorts with a standardized cognitive assessment is warranted. Full article
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21 pages, 5563 KB  
Article
A Trade-Off Optimization Design Method for Low-Speed High-Torque PMSM with Pole-Suspended Rotors
by Zihe Wang, Guangwei Liu, Boxue Yu, Shi Jin and Zhaoyu Zhang
Actuators 2026, 15(6), 319; https://doi.org/10.3390/act15060319 - 5 Jun 2026
Viewed by 112
Abstract
Aiming at the problem that the loss and temperature rise of the pole-suspended rotor low-speed high-torque permanent magnet synchronous motor (LHPMSM) increase in the pursuit of high torque density, and the design cycle is prolonged due to the dependence on thermal post-verification. In [...] Read more.
Aiming at the problem that the loss and temperature rise of the pole-suspended rotor low-speed high-torque permanent magnet synchronous motor (LHPMSM) increase in the pursuit of high torque density, and the design cycle is prolonged due to the dependence on thermal post-verification. In this paper, a multi-physics trade-off design method based on weighted heating rate combined with a surrogate model and a multi-objective evolutionary algorithm is proposed. Firstly, the rationality of introducing a weighted heating rate is proved by mathematical proof and thermal network calculation. Secondly, the two-dimensional sensitivity analysis of the key structural parameters of the motor is carried out to identify the most influential structural variables, which are then used to construct a high-precision surrogate model based on gradient boosting regression tree (GBRT). Then, in order to effectively obtain the Pareto solution set of balanced torque performance and heat dissipation performance, the non-dominated sorting genetic algorithm (NSGA-II) is used for multi-objective optimization. Finally, the multi-physical field finite-element simulation verification and a 356kW prototype experimental analysis show that the optimized design significantly improves the torque performance while effectively controlling the temperature rise and realizes the fast compromise design of the multi-physical field of the motor. The effectiveness and advancement of the proposed method to achieve coordinated improvement of high power density and high steady-state thermal margin in motor design are verified. Full article
(This article belongs to the Section High Torque/Power Density Actuators)
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20 pages, 538 KB  
Article
A Multi-Locus and Machine Learning-Based Assessment of SNCA Variants in Alzheimer’s Disease
by Hatice Segmen and Mustafa Yildiz
Int. J. Mol. Sci. 2026, 27(11), 5143; https://doi.org/10.3390/ijms27115143 - 5 Jun 2026
Viewed by 82
Abstract
This study investigates the role of single nucleotide polymorphisms (SNPs) in the SNCA gene, encoding alpha-synuclein, in Alzheimer’s disease (AD). A case–control study was conducted including 95 AD patients and 97 healthy controls. Four SNCA polymorphisms (rs2583988, rs2619363, rs2619364, rs10005233) were analyzed using [...] Read more.
This study investigates the role of single nucleotide polymorphisms (SNPs) in the SNCA gene, encoding alpha-synuclein, in Alzheimer’s disease (AD). A case–control study was conducted including 95 AD patients and 97 healthy controls. Four SNCA polymorphisms (rs2583988, rs2619363, rs2619364, rs10005233) were analyzed using logistic regression, haplotype estimation, genotype combination analysis, and Random Forest modeling. Significant associations were identified for rs2583988, rs2619364, and rs2619363, while rs10005233 showed no association. The rs2583988 C allele and rs2619364 G allele were more frequent in patients, suggesting increased disease risk. Linkage disequilibrium analysis revealed weak correlations (low r2), indicating largely independent genetic effects. Multivariate logistic regression showed that clinical parameters, rather than genetic variants, were independently associated with AD. Multi-locus genotype analysis demonstrated that specific SNP combinations were linked to increased disease risk. Firth regression confirmed associations in low-frequency genotypes. The outcomes derived from the Random Forest methodology were classified as exploratory and not as proof of clinical predictive utility, attributed to the limited sample size, the absence of external validation, and the educational imbalance. Ordinal logistic regression indicated no association between SNCA variants and cognitive severity, while education had a protective effect. The selected SNCA variants showed exploratory associations with AD in this cohort; however, they failed to maintain their validity as independent predictors in multivariate logistic regression analysis. Before drawing any conclusions regarding screening or risk stratification, these findings require independent replication, correction for multiple testing and functional validation. Full article
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