Search Results (3,376)

Developing soy cultivars for northern long-day regions requires understanding how alleles of protein accumulation genes function in non-optimal environments like Western Siberia, where their effects may diverge from those established in other regions. We hypothesized that allelic variation in the genes GmSWEET39, Glyma.03G219900, Glyma.14G119000, Glyma.17G074400, and POWR1 would have measurable and predictable effects on seed composition and plant architecture in soybean, even under the stressful long-day conditions of Western Siberia (Omsk Oblast). Over a three-year period (2021–2023), a diverse collection of 58 soybean accessions was phenotyped for yield-related traits and genotyped using established KASP and PCR markers and a novel KASP marker for GmSWEET39. Our results demonstrate that the GmSWEET39 CC+ allele is significantly associated with an increase in seed protein content by up to 1.9 pp, a decrease in seed oil content up to 1.4 pp, and a reduction in plant height by up to 20%, while the Glyma.17G074400 SNP(T) allele was associated with an increase in oil content up to 1.4 pp. Strong negative correlations were found between protein content and plant height, whereas plant height was positively correlated with flowering time. Broad-sense heritability was high (H² > 0.82) for all traits except fiber content. The genotypic structure of the collection revealed a predominance of oil-favoring alleles, with rare protein-enhancing alleles identified in accessions from Sweden, Poland, China, and Japan. These accessions have been proposed as valuable donors for breeding. This study validates the utility of marker-assisted selection for the development of high-protein and high-oil soybean varieties tailored to the challenging photoperiod and climatic conditions of northern regions. Full article

Brassica napus L. is one of the world’s most important oilseed crops. Blackleg disease is a serious, yield-limiting factor in the cultivation of oilseed rape. Genetic resistance is primarily conferred by major resistance (R) genes. In this study, we analyzed the expression of the blackleg resistance genes Rlm3, Rlm4, and Rlm7 following inoculation with the Leptosphaeria maculans isolate using the RT-qPCR method. Additionally, we demonstrated and assessed their interactions. The results showed that, while Rlm3 was weakly induced, Rlm4 and Rlm7 displayed variable expression post-inoculation. The correlation between phenotypic and genotypic similarity was low. This suggests that transcriptional responses do not fully explain resistance patterns. Furthermore, significant main effects of the analyzed genes, as well as two- and three-way interactions, were indicated. These results support current knowledge of gene-mediated resistance to blackleg in oilseed rape. Full article

Inherited platelet function disorders (IPFD) are characterized by normal platelet count and morphology but impaired function due to pathogenic variants in genes encoding membrane receptors, granule constituents, or intracellular signaling proteins. Glanzmann’s thrombasthenia, the most representative IPFD, results from ITGA2B or ITGB3 mutations that disrupt the αIIbβ3 integrin complex, producing severe mucocutaneous bleeding. Advances in molecular genetics have expanded the IPFDs landscape to include defects in other platelet receptors (Glycoprotein (GP)-VI, P2Y₁₂, and thromboxane A₂[TxA₂]-R), signaling mediators (RASGRP2, FERMT3, G-protein regulators, PLC, and TxA₂ pathway enzymes), and granule biogenesis disorders such as Hermansky–Pudlak and Chediak–Higashi syndromes. High-throughput sequencing technologies, including long-read approaches, have greatly improved diagnostic yield and clarified genotype–phenotype correlations. Clinically, bleeding severity varies from mild to life-threatening, and management relies on antifibrinolytics, desmopressin, or platelet transfusion; recombinant activated factor VII and hematopoietic stem cell transplantation are reserved for selected cases. Emerging strategies such as gene therapy and bispecific antibodies that link platelets and coagulation factors represent promising advances toward targeted and preventive treatment. A better knowledge of the clinical features and understanding molecular pathogenesis of IPFDs not only enhances diagnostic precision and therapeutic options but also provides key insights into platelet biology, intracellular signaling, and the broader mechanisms of human hemostasis. Full article

In temperate regions, Fusarium ear rot (FER) caused by Fusarium spp. is among the most important limiting factors to maize yield and kernel quality. The role of genotype and sowing date in mitigating FER risk remains insufficiently explored, particularly under the variable climatic conditions of the Transylvanian Plain, Romania. A three-year field experiment (2021–2023) was conducted to evaluate twelve early to semi-early maize hybrids across four sowing dates (very early—SD1, early—SD2, optimum—SD3, late—SD4). FER incidence and severity were assessed at harvest, and yields were analyzed in relation to genotype, disease pressure, and seasonal climate variability. Mean FER incidence reached 74.9% and severity was 3.4%, with significant variation among years, sowing dates, and hybrids. Early sowings (SD1, SD2) recorded the highest infection levels (up to 83.6% incidence and 4.6% severity). In contrast, the latest sowing (SD4) exhibited the lowest disease pressure (59.1% and 2.5%, respectively) and achieved the highest yield (9.1 t ha⁻¹). Significant differences were noted between hybrids: Turda 332, Turda Star, and Turda 165 were highly susceptible, whereas Turda 380, HST 149, and Turda 2020 displayed higher levels of tolerance. A strong correlation between yield losses and FER severity was observed for very early sowing (r = 0.72, p < 0.01); this relationship was not evident under later sowing. These results indicate that choosing the sowing date according to seasonal climatic conditions, together with the use of the most tolerant hybrids, represents an effective strategy to reduce the risk of FER and to obtain stable maize yields in temperate regions. Full article

Copy number variations (CNVs) affecting the chromosomal region 21q21.3–q22.13 are rare and have been increasingly associated with neurodevelopmental abnormalities and multisystemic manifestations. In this study, we aimed to characterize the clinical, genomic, and genotype–phenotype correlations of a Moroccan child carrying a de novo microdeletion in this region. Whole exome sequencing (WES) was performed using sequencing-by-synthesis technology on the GenoLab M platform, and CNV detection was achieved through the SeqOne platform. Variant interpretation was conducted using the Integrative Genomics Viewer (IGV), and a custom gene–phenotype heatmap was generated in R (ComplexHeatmap and pheatmap) based on OMIM, ClinVar, and DECIPHER databases to prioritize candidate genes within the deleted segment. The patient presented with global developmental delay, microcephaly, psychomotor and staturo-ponderal retardation, facial dysmorphism, epilepsy responsive to treatment, and cerebral anomalies, including passive biventricular hydrocephalus and diffuse cortical atrophy. WES-CNV analysis identified a heterozygous de novo microdeletion of approximately 8.2 Mb in 21q21.3–q22.13, encompassing 124 clinically relevant genes. Integrated analysis confirmed the pathogenicity of the deletion and highlighted genotype–phenotype correlations, particularly implicating dosage-sensitive genes such as SON and RUNX1. This case underlines the clinical utility of combining WES, CNV analysis, and phenotype-based bioinformatic tools for diagnosing complex microdeletion syndromes, contributes to understanding genotype–phenotype relationships in 21q21.3–q22.13 deletions, and supports improved clinical interpretation and patient management. Full article

Yellow rust (YR), caused by Puccinia striiformis f. sp. tritici (Pst), is a global disease infecting wheat that seriously affects the yield and the quality of grains. Wheat breeding line C855 is immune to the mixed Pst isolates CYR32 + CYR33 + CYR34 under field conditions. To identify the Yr-loci carried by C855, in this study, an F₂ population derived from the crossing of C855 with Yannong 999, a YR-sensitive cultivar, was established, and the infection type (IT) of each F₂ individual was estimated. The correlation analysis results show that YR resistance was significantly positively correlated with grain weight and grain size. Using a 120K single-nucleotide polymorphism (SNP) array, the F₂ population was genotyped, and a high-density genetic map covering 21 wheat chromosomes and consisting of 5362 SNP markers was built. Then, five Yr-QTLs on chromosomes 1B, 2A, 2B, and 2D were identified. Of these, the QTL on chromosome 2A, temporarily named QYr.sxau-2A.1, is a major-effect QTL explaining 15.62% of the phenotypic variance. One PCR-based marker SSR2A-14 for QYr.sxau-2A.1 was developed, and the C855 allele of SSR2A-14 corresponded to the stronger Yr resistance. QYr.sxau-2A.1, located in the 228.02~241.58 Mbp physical interval, is different from all the known Yr loci on chromosomes 2A. Within the interval, there are 30 annotated genes, including a nucleotide-binding site and a leucine-rich repeat (NBS-LRR)-encoding gene with the linkage marker NRM2A-16 of QYr.sxau-2A.1. Our results reveal a novel major-effect QYr.sxau-2A.1, which provided resistance to YR and is a molecular marker for wheat breeding. Full article

Anubias (Araceae) is a globally important group of ornamental aquatic plants. However, when temperatures drop to 10 °C, most species suffer obvious frostbite from cold stress, restricting winter cultivation and broader application. This study focused on two Anubias genotypes with distinct cold tolerance, adopting an integrated approach combining phenotypic, physiological, metabolomic, and transcriptomic analyses to reveal the mechanisms underlying their differential cold tolerance. Under 10 °C cold stress, compared with normal temperatures, the leaves of cold-tolerant Anubias sp. ‘Long Leaf’ (Jian) showed no significant frostbite, while cold-sensitive Anubias barteri var. nana ‘Coin Leaf’ (Jin) had clear frost damage. Both genotypes exhibited increased leaf relative electrical conductivity, malondialdehyde (MDA) content, soluble sugar content, and activities of superoxide dismutase (SOD) and catalase (CAT); “Jian” had more notable rises in SOD/CAT activities and maintained higher levels, whereas “Jin” showed greater increases in conductivity, MDA, and soluble sugar. Metabolomic and transcriptomic analyses revealed “Jian” specifically upregulated metabolites in pathways like flavone and flavonol biosynthesis and tryptophan metabolism, as well as genes related to valine, leucine, isoleucine degradation and phenylpropanoid biosynthesis pathways. ERFs, WRKYs, NACs and other transcription factors correlated with these differentially expressed genes, suggesting potential transcriptional regulation. These results provides insights for breeding cold-tolerant Anubias and optimizing low-temperature cultivation. Full article

Background/Objectives: Friedreich’s ataxia (FA) is a rare neurodegenerative disorder caused by GAA repeat expansions in the FXN gene. While well-studied in larger populations, data from Southeastern Europe are limited. This study aimed to characterize the clinical and genetic features of FA in a Serbian cohort and explore genotype–phenotype correlations. Methods: A multi-center, retrospective–prospective analysis was conducted on 30 genetically confirmed FA patients. Clinical assessments included neurological, cardiological, and metabolic evaluations. GAA repeat sizes were determined in 26 patients, and correlations with clinical features were analyzed. Results: The mean age at disease onset was 9.0 ± 3.0 years, with ataxia as the initial symptom in 80% of patients. Hypertrophic cardiomyopathy was present in 73.3%, and 43.3% of patients lost ambulation within 1.5 to 15 years after symptom onset. Two patients developed diabetes, and two were diagnosed with nephrotic syndrome. Genetic analysis revealed an average GAA1 repeat length of 805 and GAA2 of 1024 alleles. Larger GAA1 expansions were associated with extensor plantar responses, while longer GAA2 repeats correlated with impaired vibration sense. Disease duration was strongly linked to multiple neurological signs and loss of ambulation. No significant correlation was found between GAA repeat length and age at onset. Conclusions: This study provides the first genotype–phenotype analysis of FA in Serbia, confirming known patterns and revealing new comorbidities, such as nephrotic syndrome. GAA repeat length influences some clinical features but does not fully predict disease onset or progression, indicating the need for broader genetic and environmental studies. Full article

Otofaciocervical syndrome (OTFCS) is a rare disorder characterized by facial, auditory, and shoulder girdle anomalies. Its significant phenotypic overlap with branchiootorenal spectrum disorders (BORSD)—both linked to EYA1 (EYA transcriptional coactivator and phosphatase 1) gene defects—has raised questions about whether they are distinct entities or part of a single clinical spectrum. We report a novel OTFCS patient with a de novo microdeletion spanning EYA1 and review all published cases of EYA1-related disorders. Our analysis reveals that all EYA1 variant types (truncating, missense, CNV, etc.) can cause BORSD, OTFCS, or hybrid phenotypes, firmly supporting their status as allelic disorders. Crucially, all reported OTFCS patients with EYA1 variants had renal anomalies, a feature previously considered a hallmark of BORSD. We conclude that BORSD and OTFCS constitute a single EYA1-related diagnostic continuum. This reclassification mandates the development of follow-up protocols that integrate renal, otologic, and skeletal surveillance in EYA1-related disorders, including OTFCS, and refines prognostic and genetic counseling. Full article

Starch granule size distribution plays a vital role in determining the physicochemical properties and processing quality of soft wheat. This study analyzed fourteen soft wheat varieties cultivated in the Huaihe River Basin, an agriculturally important but underrepresented region, to evaluate starch granule size distribution, pasting properties, and their interrelationship. The starch granules were categorized into four size classes, with the volume dominated by A-type granules (>10 μm), while numerically, the majority were <2.8 μm. Pasting characteristics measured by the Rapid Visco Analyzer revealed substantial variation among genotypes. Varieties with a higher proportion of A-type granules exhibited stronger pasting profiles, including higher peak and final viscosities, whereas those with more B-type granules showed lower values. These observations indicate a clear relationship between granule morphology and starch functionality. In the present study, there was a significant positive correlation between peak viscosity, final viscosity, and set-back viscosity. The volume % of granules > 10 μm showed a positive correlation with peak viscosity (r = 0.53 *), final viscosity (r = 0.57 *), and set-back (r = 0.53 *), while the volume percentage of granules < 10 μm was significantly negatively correlated with peak viscosity (r = −0.53 *), final viscosity (r = −0.57 *), and set-back (r = −0.53 *) value. It indicated that the higher the percentage of granules > 10 μm, the higher the peak viscosity, final viscosity, and set-back value in soft wheat grain. Full article

Staphylococcus aureus is an important human pathogen known for its versatility and ability to cause a wide range of infections. The aim of this study was to isolate and identify S. aureus from skin lesions from human patients, to determine antimicrobial resistance and biofilm formation potential at phenotypic and genotypic levels, as well as to verify the activity of efflux pump production. Out of 51 samples collected from skin lesions of various etiologies, 13 isolates were identified as S. aureus. All isolates showed the ability to form biofilms, which correlated with the presence of the icaABCD, agrA, srtA, clfAB, and fnbAB genes, while the bap gene was absent. The highest rates of resistance were observed for ampicillin (69.2%) and gentamicin (46.2%), as well as for erythromycin and clindamycin (38.5%). The mecA gene was present in two isolates, but phenotypic resistance to methicillin was confirmed in only one of them, suggesting possible heterogeneous expression or regulated activity of resistance mechanisms. The mecC gene was not present in any isolate. Efflux pump production was observed in only three isolates, showing weak to intermediate levels. These findings indicate the high biofilm potential and variable antimicrobial resistance of S. aureus clinical isolates, which pose a challenge for the treatment of emerging skin infections. Full article

Background/Objectives: The mTOR serine/threonine kinase coordinates protein translation, cell growth, and metabolism, and its dysregulation promotes tumorigenesis. We present a reproducible, pan-cancer, network-aware framework that integrates curated resources with genomics to move beyond pathway curation, yielding falsifiable hypotheses and prioritized candidates for mTOR axis biomarker validation. Materials and Methods: We assembled MTOR-related genes and interactions from GeneCards, KEGG, STRING, UniProt, and PathCards and harmonized identifiers. We formulated a concise working model linking genotype → pathway architecture (mTORC1/2) → expression-level rewiring → phenotype. Three analyses operationalized this model: (i) pan-cancer alteration mapping to separate widely shared drivers from tumor-specific nodes; (ii) expression-based activity scoring to quantify translational/nutrient-sensing modules; and (iii) topology-aware network propagation (personalized PageRank/Random Walk with Restart on a high-confidence STRING graph) to nominate functionally proximal neighbors. Reproducibility was supported by degree-normalized diffusion, predefined statistical thresholds, and sensitivity analyses. Results: Gene ontology analysis demonstrated significant enrichment for mTOR-related processes (TOR/TORC1 signaling and cellular responses to amino acids). Database synthesis corroborated disease associations involving MTOR and its partners (e.g., TSC2, RICTOR, RPTOR, MLST8, AKT1 across selected carcinomas). Across cohorts, our framework distinguishes broadly shared upstream drivers (PTEN, PIK3CA) from lineage-enriched nodes (e.g., RICTOR-linked components) and prioritizes non-mutated, network-proximal candidates that align with mTOR activity signatures. Conclusions: This study delivers a transparent, pan-cancer framework that unifies curated biology, genomics, and network topology to produce testable predictions about the mTOR axis. By distinguishing shared drivers from tumor-specific nodes and elevating non-mutated, topology-inferred candidates, the approach refines biomarker discovery and suggests architecture-aware therapeutic strategies. The analysis is reproducible and extensible, supporting prospective validation of prioritized candidates and the design of correlative studies that align pathway activity with clinical response. Full article

Background: Wilson’s disease (WD) is a rare autosomal recessive disorder caused by mutations in the ATP7B gene, leading to copper accumulation in the liver and brain. Given the clinical heterogeneity of the disease, this study aimed to characterize the mutational spectrum of ATP7B and explore genotype–phenotype correlations in Turkish patients. Methods: Whole-exome sequencing (WES) was performed in 17 Turkish patients clinically diagnosed with WD. Variants were annotated and evaluated using five in silico prediction tools (REVEL, CADD, PolyPhen, SIFT, MutationTaster). Copy number variation (CNV) analysis was conducted using the CLC Genomics Server (Version 22.0.2). Results: A total of 14 distinct ATP7B variants were identified, comprising 12 missense, 1 nonsense, and 1 frameshift mutation. Variant distribution showed some phenotype-specific patterns: four variants were found more frequently in hepatic cases and three in neurological cases, although no statistically significant or consistent correlation between genotype and clinical presentation could be established. The most frequent mutation was p.His1069Gln, present in both phenotypes. All missense variants were predicted to be pathogenic by at least three computational tools, with high concordance among platforms. No pathogenic CNVs were detected. Conclusions: This study expands the mutational landscape of ATP7B in Turkish patients with WD and supports the utility of WES combined with in silico tools for accurate variant classification. The results emphasize the genetic heterogeneity of WD and suggest possible associations between certain mutations and clinical phenotypes. Full article

This study proposes and empirically assesses a bio-inspired conceptual framework, termed Digital DNA, for modeling Industry 5.0 transformation as a complementary extension of established Industry 4.0 principles with an explicit focus on human-centricity, sustainability, and resilience. Rather than positing a new industrial revolution, our positioning follows the European Commission’s view that Industry 5.0 complements Industry 4.0 by emphasizing stakeholder value and human-technology symbiosis. We encode organizational capabilities (genotype) into four gene groups, Adaptability, Technology, Governance, and Culture, and link them to five human-centric outcomes (phenotype). Twenty capability genes and ten outcome measures were scored, normalized (0–100 scale), and analyzed using correlations, K-means clustering, and mutation/drift tracking to capture both static maturity levels and dynamic change patterns. Results show that high Industry 5.0 readiness is consistently associated with elevated Governance and Culture scores. Three transformation archetypes were identified: Alpha, representing holistic socio-technical integration; Beta, with strong technical capacity but weaker cultural alignment; and Gamma, with fragmented capabilities and elevated vulnerability. The Digital DNA framework offers a replicable diagnostic tool for linking socio-technical capabilities to human-centric outcomes, enabling readiness assessment and guiding adaptive, ethical manufacturing strategies. Full article

Wheat production, globally and in Kazakhstan, is significantly limited by heat stress and drought. The evaluation of agronomic traits related to yield under stress conditions is crucial for identifying yield-limiting factors and selecting drought-tolerant germplasm. The aim of this study was to evaluate the variability of the main agronomic and physiological characteristics of 45 winter wheat collection accessions obtained during CIMMYT international variety trials (23IWWYT-IRR and 22IWWYT-SA) in the arid conditions of Southeastern Kazakhstan (foothills of the Zailiyskiy Alatau, 48° N, 77° E, 740 m above sea level) and to identify drought-resistant germplasm. As a result of three years of research (2019–2022) under drought conditions during the 2020–2021 growing season with a high negative environment index (Ij = −3.07), three adapted genotypes were identified: BONITO-37/MV10-2000, LYMARIVNA, and OK12D22004-016. They had yields of 5.3, 5.6, and 5.2 t/ha, respectively, significantly exceeding the yield of the local commercial variety STEKLOVIDNAYA 24 by 15.4–22.8%. The correlation coefficient between productivity variables was significant and varied from 0.55 ** to 0.82 ***. The percentage decrease in yield under drought conditions was 72.3%, while the drought resistance index was 0.27. Full article