Search Results (1,860)

In arid regions, rainfall is scarce, summer-concentrated, and prone to extreme events, while evaporation exceeds precipitation, creating fragile ecosystems that need scientific stormwater management for flood resilience. Sponge cities, through the implementation of green infrastructure, can alleviate urban flooding, improve rainwater utilization, and enhance the urban ecological environment. Under the “dual carbon” target, sponge city construction has gained new developmental significance. It must not only ensure core functions and minimize construction costs but also fully leverage its carbon reduction potential, thereby serving as a crucial pathway for promoting urban green and low-carbon development. Therefore, this study focused on Xining, a typical arid city in Northwest China, and couples the Non-dominated Sorting Genetic Algorithm-III (NSGA-III) with the Storm Water Management Model (SWMM) to construct a multi-objective optimization model for Low Impact Development (LID) facilities. The layout optimization design of LID facilities is conducted from three dimensions: life cycle cost (LCC), rainwater utilization rate (K), and carbon emission intensity (CI). Hydrological simulations and scheme optimizations were performed under different design rainfall events. Subsequently, the entropy-weighted TOPSIS method was utilized to evaluate and compare these optimized schemes. It is shown by the results that: (1) The optimized LID schemes achieved a K of 76.2–80.43%, an LCC of 2.413–3.019 billion yuan, and a CI of −2.8 to 0.19 kg/m²; (2) Compared with the no-LID scenario, the optimized scheme significantly enhanced hydrological regulation, flood mitigation, and pollutant removal. Under different rainfall return periods, the annual runoff control rate increased from 64.97% to 80.66–82.23%, with total runoff reduction rates reaching 46.41–49.26% and peak flow reductions of 45–47.62%. Under the rainfall event with a 10-year return period, the total number of waterlogging nodes decreased from 108 to 82, and the number of nodes with a ponding duration exceeding 1 h was reduced by 62.5%. The removal efficiency of total suspended solids (TSS) under the optimized scheme remained stable above 60%. The optimized scheme is highly adaptable to the rainwater management needs of arid areas by prioritizing “infiltration and retention”. Vegetative swales emerge as the primary facility due to their low cost and high carbon sink capacity. This study provides a feasible pathway and decision-making support for the low-carbon layout of LID facilities in arid regions. Full article

Branching traits play a critical role in shaping the tree structure of fruit crops and directly influence both yield and fruit quality. Effective and well-managed branching is crucial for maximizing productivity. However, loquat trees typically exhibit weak branching ability, characterized by fewer and longer bearing shoots, along with terminal flower buds, which collectively result in lower yields per unit area. Despite their significance, research on branching characteristics in loquat remains limited. To clarify the factors influencing branching and to provide a rational and effective direction for improving the inherently weak branching performance of current loquat cultivars, we selected the loquat varieties ‘Dawuxing’ and ‘Chunhua 1’, which exhibit significant differences in leaf and branch growth. Compared to ‘Dawuxing’, ‘Chunhua 1’ has longer branches, wider stem and leaf angles, fewer lateral branches, and a looser leaf cell structure. Transcriptome analysis of terminal buds at different developmental stages revealed that differentially expressed genes in the terminal buds of central branches from the spring and summer shoots of the two cultivars were enriched in the plant hormone signal transduction pathway. Hormone-targeted metabolomics identified significant differences in the levels of abscisic acid, auxins, cytokinins, gibberellins, jasmonic acid, and strigolactones in the terminal buds of both cultivars. Through integrated analysis, two candidate genes were identified as potential regulators of branching differences between the two cultivars: EVM0025028 (EjSAPK1), SnRK2 gene a core component of the abscisic acid signaling pathway, and EVM0040331 (EjRMS3), a D14 gene involved in encoding a strigolactone receptor. These findings provide valuable genetic resources for future research on branching regulation in Eriobotrya species and offer a theoretical foundation for enhancing branching management in loquat cultivation. Full article

Background/Objectives: The Fibroblast Growth Factor Receptor 1 (FGFR1, MIM*136350) is a protein member of the fibroblast growth factor receptor (FGFR) family, with various biological functions, such as the normal development control. It contains an extracellular site for the ligand (three Ig-like domains, IgI, IgII, IgIII), a single transmembrane and a cytoplasmic protein tyrosine kinase (TK) domain. Variants in this gene have been associated with a wide spectrum of genetic disorders, including the clinical entity known as FGFR1-related Hartsfield or Hartsfield syndrome (HRTFDS, MIM#615465), which is an autosomal dominant or recessive disorder characterized by the clinical association of split-hand/foot malformation (SHFM) and holoprosencephaly (HPE). Dysmorphic facies, including cleft/lip palate, genitourinary anomalies, cardiovascular defects and intellectual disability/developmental delay (ID/DD) can also be a part of the clinical picture. Methods: The malformation phenotype of HRTFDS has been reviewed in 26 previously reported patients in terms of single congenital defects, mutational spectrum, impacted protein domains and inheritance. Molecular basis, clinical management, main differential diagnoses and genetic counseling were also illustrated. Results: SHFM was identified in every patient. The other main associated features included craniofacial defects, skeletal malformation identified at radiography, genitourinary anomalies, HPE and cardiovascular disorders. FGFR1 causative variants mainly impact the TK domain and have a smaller impact on other protein sites (IgII, IgIII). Conclusions: This study extensively recapitulates the malformation phenotype associated with HRTFDS and the underlying molecular perturbations. A multidisciplinary clinical approach is fundamental, in which genetic counseling can have an important role. However, our results are partial and refer to a restricted number of patients, pointing out the necessity of other descriptions and similar research. Additional studies will expand clinical and molecular knowledge as well as further clarify the biological mechanisms. Full article

Postnatal muscle development involves complex transcriptional regulation that remains poorly characterized in goats. This study employed RNA-Seq to profile the Longissimus dorsitranscriptome of Leizhou Black goats across three developmental stages: birth, six months, and two years. We identified dynamic gene expression patterns, widespread alternative splicing events, and stage-specific co-expression networks that collectively orchestrate muscle maturation. A significant transcriptional shift occurred between six months and two years, marked by the downregulation of proliferation-related genes (e.g., RRM2, TOP2A) and the activation of pathways governing muscle contraction and energy metabolism. Functional enrichment analyses highlighted the importance of PI3K-Akt, PPAR, and calcium signaling pathways throughout development. Additionally, 905 novel transcripts were discovered, many enriched in mitochondrial functions, indicating incompleteness in the current goat genome annotation. Weighted gene co-expression network analysis revealed modules correlated with developmental stages, and protein–protein interaction analysis identified hub genes regulating cell cycle progression and muscle function. Key results were validated via qRT-PCR, confirming the temporal expression patterns of genes such as CYP4B1, HACD1, and ACTC1. These findings provide mechanistic insights into the transcriptional reprogramming driving postnatal muscle development and offer valuable genetic resources for improving meat production in goats through molecular breeding. Full article

Traditional methods for grapevine (Vitis spp.) breeding are marked by lengthy breeding cycles with usually low efficiency, rendering them inadequate for the demands of the rapidly evolving grapevine industry. While grapevine genetic transformation holds significant potential for improvement, its application is hampered by bottlenecks in efficiency, speed, and genotype dependence. In this context, this review systematically examines the factors influencing and challenges associated with key steps in grapevine genetic transformation—specifically, gene delivery and plant regeneration. It posits that the development and application of marker genes, the exploration and utilization of developmental regulators, and the establishment of novel genetic transformation systems are effective strategies to overcome current limitations. In this paper, we present a foundation and methodological guidance for creating efficient and stable genetic transformation systems for grapevine, with significant theoretical and practical implications. Full article

The giant freshwater prawn Macrobrachium rosenbergii is a globally farmed decapod species of high economic and nutritional value, but its genetic improvement has been constrained by the lack of an efficient genome editing workflow. Here, we optimized a CRISPR/Cas9 microinjection system for targeted mutagenesis in M. rosenbergii embryos. A controlled mating-based approach enabled routine collection of one-cell embryos, and developmental staging identified 0.5–2 h post-fertilization as the optimal injection window. Optimization of the needle tip (~1 μm) minimized mechanical damage, lowering early embryo mortality to ~10%. Using this system, the eye-development gene MrPAX6 and the sex-related gene MrIAG were successfully edited. MrPAX6 editing produced a 46.9% mutation rate and an average 50% reduction in eye pigment area. MrIAG editing achieved an 84% mutation rate, while post-injection survival to hatching was approximately 35%. These results establish an efficient and reproducible CRISPR/Cas9 editing system in M. rosenbergii, providing a foundation for functional genomics and genetic improvement in this commercially important prawn species. Full article

Background: Helsmoortel-Van der Aa syndrome (HVDAS) is a rare multisystemic neurodevelopmental disorder caused by pathogenic variants in the Activity-Dependent Neuroprotective Homeobox Protein (ADNP) gene. Since the extensive clinical description of a cohort of 78 affected individuals in 2019, numerous reports described additional cases affected by the condition. However, no systematic synthesis of the clinical and molecular spectrum of these additional individuals has been conducted to date. Methods: In accordance with the PRISMA 2020 guidelines, we performed a systematic review of all publications describing individuals with genetically confirmed HVDAS. Clinical characteristics, comorbidities, and developmental milestones were systematically extracted to illustrate novel or underrecognized manifestations. Results: A total of 105 individuals reported across 34 publications were included. Of these, 66 were clinically and genetically evaluated, and 39 were analyzed only at the genetic level. Our analysis refines the phenotypic spectrum of HVDAS, including developmental delay, visual anomalies, and congenital heart defects. The additional literature also allows us to characterize in more detail the ophthalmological abnormalities, gait disturbances, and the cognitive profile of HVDAS. Advances in ADNP methylation profiling further enhance diagnostic precision and variant interpretation in this evolving neurodevelopmental syndrome. Conclusions: This systematic review provides a comprehensive synthesis of the clinical, genetic, and epigenetic landscape of HVDAS. It underscores the multisystemic nature of the disorder and the need for multidisciplinary management. The expanding phenotypic heterogeneity likely reflects both improved clinical recognition of the more subtle features and the tendency to prioritize publication of more complex or severely affected cases. Full article

The floral morphology of Rosa chinensis significantly influences its ornamental value. However, the molecular mechanisms underlying specific floral types remain poorly understood. Viridiflora, a stable genetic variant of R. chinensis, exhibits homeotic transformation of floral organs into sepal-like structures, providing a valuable model for studying floral organ identity and development. In this study, Viridiflora was compared with Old Blush to elucidate floral development through morphological observation, transcriptomic profiling, and functional genetics. Four distinct developmental stages were defined, encompassing the formation of sepal, petal, stamen, and pistil primordia. Transcriptome analysis identified candidate genes associated with the Viridiflora phenotype, among which RcAGAMOUS2 (RcAG2) and RcFRUITFULL (RcFUL) were selected for in-depth functional characterization. The proteins encoded by these two genes are hydrophilic, lack signal peptides and transmembrane domains, and contain multiple phosphorylation sites. They feature typical MADS-box family domains and show close phylogenetic affinity to Rosa rugosa. Subcellular localization showed their nuclear presence. Heterologous overexpression of RcAG2 and RcFUL in Arabidopsis resulted in notable phenotypic alterations: RcAG2 caused petal reduction and stamen exposure, while RcFUL led to greenish, leaf-like petals with pigmentation gradients, increased sepal number, and failed seed set. Conclusion: These results suggest that RcAG2 and RcFUL play key roles in floral organ development through genetic regulation, providing a theoretical foundation for further research on floral development in R. chinensis. Full article

Variants in neuronal sodium channel genes are responsible for a spectrum of neurological disorders, including developmental and epileptic encephalopathies (DEEs), with considerable genetic and phenotypic heterogeneity and drug resistance. Gene variants can produce loss-, gain-, or mixed-function effects, resulting in complex genotype-phenotype correlations. Current treatments rely mainly on symptomatic polytherapy with antiseizure medications, with sodium channel blockers contraindicated in loss-of-function cases but beneficial in gain-of-function forms. Existing therapies often provide limited benefit or even no seizure control at all and fail to address developmental impairments, highlighting the need for novel approaches. Emerging strategies include antisense oligonucleotides, gene therapy, and selective small-molecule modulators, which have shown antiseizure potential in preclinical models and in initial clinical studies by modulating SCN gene expression and function. Additionally, pharmacological agents such as fenfluramine, stiripentol, and cannabidiol, although not acting directly on sodium channels, represent recognized therapeutic options for SCN1A-related Dravet syndrome. This review summarizes recent advances in approved and investigational treatments for sodium channel-related neurological disorders, highlighting the transition from symptomatic to precision therapies. Full article

Perennial ryegrass is a widely cultivated cool-season forage and turf grass species whose growth and development are limited by drought and high temperature. MAX2 is an F-box leucine-rich repeat (LRR) protein, which serves as a central component of strigolactone (SL) and karrikin (KAR) signaling pathways, involved in multiple growth and developmental processes as well as stress response. Here, we identified LpMAX2, a perennial ryegrass (Lolium perenne L.) homolog of Arabidopsis MAX2 (AtMAX2) and rice D3. LpMAX2 can interact with AtD14 and LpD14 in an SL-dependent manner, implying functional conservation with AtMAX2. Overexpression of LpMAX2 in the Arabidopsis max2-3 mutant partially rescued leaf morphology, hypocotyl elongation, and branching phenotypes, while fully restoring drought tolerance, highlighting the evolutionarily conserved roles of MAX2 in plant growth and drought resistance. In conclusion, LpMAX2 is evolutionarily conserved in SL/KAR signaling pathways, highlighting its potential function in drought adaptation. In addition to elucidating the biological function of LpMAX2, this study identifies a promising genetic target for enhancing stress resilience in forage grasses through biotechnological approaches. Full article

The onset of puberty is a critical developmental milestone regulated by complex neuroendocrine networks that integrate genetic, metabolic, and environmental cues. Among the molecular systems coordinating this transition, neurotrophins—including brain-derived neurotrophic factor (BDNF), nerve growth factor, neurotrophin-3, and neurotrophin-4/5—have emerged as important modulators of hypothalamic maturation and the activation of gonadotropin-releasing hormone (GnRH) neurons. Beyond their established roles in neuronal survival and differentiation, neurotrophins contribute to hypothalamic circuit plasticity, influence GnRH neuronal activity, and participate in the integration of metabolic and environmental signals relevant to reproductive maturation. Experimental studies, primarily based on animal and cellular models, demonstrate that BDNF and its receptor play a role in normal pubertal onset, whereas disruptions in neurotrophin signaling have been implicated in central precocious puberty, delayed puberty, and hypogonadotropic hypogonadism. In humans, available evidence is more limited and derives mainly from genetic studies, circulating neurotrophin measurements, and clinical observations. This review provides an integrative synthesis of current experimental and clinical data on neurotrophin-mediated regulation of pubertal timing, highlighting both physiological mechanisms and pathological conditions. While neurotrophins represent promising modulators at the intersection of neurodevelopment, metabolism, and reproduction, further longitudinal and translational human studies are required to define their diagnostic and therapeutic potential in pediatric endocrinology. Full article

Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) are among the most common congenital malformations and the leading cause of chronic kidney disease in children. They arise when key steps in kidney development are disrupted, including ureteric bud induction, branching morphogenesis and nephron progenitor differentiation. These processes depend on coordinated transcriptional programs, signaling pathways, ciliary function and proper extracellular matrix (ECM) organization. Advances in whole exome and whole genome sequencing, as well as copy number variation analysis, have expanded the spectrum of known monogenic causes. Pathogenic variants have now been identified in major transcriptional regulators and multiple ciliopathy-related genes. Evidence also points to defects in central signaling pathways and changes in ECM composition as contributors to CAKUT pathogenesis. Clinical presentations vary widely, shaped by modifying effects of genetic background, epigenetic regulation and environmental influences such as maternal diabetes and fetal hypoxia. Emerging tools, including human kidney organoids, gene-editing approaches and single-cell or spatial transcriptomics, allow detailed exploration of developmental mechanisms and validation of candidate pathways. Overall, CAKUT reflects a multifactorial condition shaped by interacting genetic, epigenetic and environmental determinants. Integrating genomic data with experimental models is essential for improving diagnosis, deepening biological insight and supporting the development of targeted therapeutic strategies. Full article

Objectives: Global Developmental Delay (GDD) and Intellectual Disability (ID) are prevalent neurodevelopmental disorders with significant disability burden, and genetic factors play a crucial role in their etiology. This study aimed to develop and validate a clinical prediction model for identifying children with GDD/ID at high genetic risk, facilitating targeted genetic testing. Methods: We retrospectively analyzed clinical data of children with GDD/ID treated at Nanjing Children’s Hospital from January 2019 to December 2023. Children with comorbid Autism Spectrum Disorder (ASD) were excluded. The dataset was randomly split into training and validation sets (7:3 ratio). Lasso regression was used to identify potential predictive factors for positive genetic test results, followed by multivariable logistic regression to select independent predictors, which were incorporated into a nomogram. Model performance was evaluated by discrimination, calibration, and clinical utility using decision curve analysis in both sets. Results: Four independent predictors—craniofacial abnormalities, visceral abnormalities, physical growth abnormalities, and family history of ID—were identified. The resulting nomogram demonstrated an area under the curve (AUC) of 0.734., with good calibration and positive net benefit on decision curve analysis. Validation confirmed the reliability of the model. Conclusions: We developed a clinically applicable prediction model to identify high genetic risk among children with GDD/ID without ASD. This model may serve as a preliminary screening tool to assist clinicians in prioritizing genetic testing and improving diagnostic efficiency in clinical practice. Full article

Grain weight, a highly heritable yield component, is a primary breeding target for enhancing wheat productivity. Unraveling the molecular dynamics underlying grain development is essential for identifying key regulators controlling this trait. In this study, we employed an integrated multi-omics approach to analyze transcriptomic and proteomic profiles in developing grains using pairwise near-isogenic lines with contrasting grain weight across four grain developmental stages. Our analysis revealed that early grain development, particularly at 7 days post-anthesis, serves as a critical window during which differential regulation of genes and proteins involved in carbohydrate biosynthesis and metabolic pathways establishes the final grain weight. By combining weighted gene co-expression network analysis (WGCNA) and K-means clustering, we identified a grain weight-associated module and pinpointed four high-confidence candidate genes. Among these, TaYAK1-2D, which encodes a YAK family protein kinase, was functionally validated as a positive regulator of grain weight through mutational analysis. Sequence analysis revealed two major natural haplotypes of TaYAK1-2D, with TaYAK1-2D-Hap2 being significantly associated with higher grain weight across multiple environments. Our findings not only delineate a crucial metabolic window governing grain weight but also provide both a novel genetic target and a practical haplotype marker for molecular breeding aimed at yield improvement in wheat. Full article

The fungus Penicillium digitatum causes citrus green mold, a major postharvest disease. Understanding the molecular mechanisms underlying its development is crucial for devising effective control strategies. In this study, we performed a comprehensive transcriptomic analysis of P. digitatum across three key developmental stages: spores, germinated spores, and mycelia. A total of 2175 novel mRNAs, 3957 novel long non-coding RNAs (lncRNAs), and 144 circular RNAs (circRNAs) were identified in P. digitatum. Genetic variation analysis revealed 12,396 Insertion-Ddeletion and 23,264 single nucleotide polymorphisms, with their prevalence decreasing as development progressed. The expression levels, temporal expression patterns and significant differences in mRNAs and lncRNAs across different developmental stages were also observed. Functional enrichment analysis of differentially expressed mRNAs and differentially expressed lncRNA target genes highlighted key biological processes and pathways associated with macromolecular metabolism, signal transduction, DNA replication, and reactive oxygen species scavenging. Additionally, differential expression analysis explored the potential interactions between differentially expressed lncRNAs and their target genes, as well as those between lncRNAs and circRNAs. Our findings provide valuable insights into the complex regulatory networks underpinning the development and pathogenicity of P. digitatum, offering a foundation for future research aimed at controlling green mold. Full article