Search Results (288)

Yield components are the most important breeding objectives, directly determining maize high-yield breeding. It is well known that these traits are controlled by a large number of quantitative trait loci (QTL). Therefore, deeply understanding the genetic basis of yield components and identifying key regulatory candidate genes can lay the foundation for maize marker-assisted selection (MAS) breeding. In this study, our aim was to identify the key genomic regions that regulate maize yield component formation through bioinformatic methods. Herein, 554 original QTLs related to 11 yield components, including ear length (EL), hundred-kernel weight (HKW), ear weight (EW), cob weight (CW), ear diameter (ED), cob diameter (CD), kernel row number (KRN), kernel number per row (KNR), kernel length (KL), grain weight per plant (GW), and kernel width (KW) in maize, were collected from the MaizeGDB, national center for biotechnology information (NCBI), and China national knowledge infrastructure (CNKI) databases. The consensus map was then constructed with a total length of 7154.30 cM. Approximately 80.32% of original QTLs were successfully projected on the consensus map, and they were unevenly distributed on the 10 chromosomes (Chr.). Moreover, 44 meta-QTLs (MQTLs) were identified by the meta-analysis. Among them, 39 MQTLs controlled two or more yield components, except for the MQTL4 in Chr. 1, which was associated with HKW; MQTL11 in Chr. 2, which was responsible for EL; MQTL19 in Chr. 3, which was related to KRN; MQTL26 in Chr. 5, which was involved in HKW; and MQTL36 in Chr. 7, which regulated EL. These findings were consistent with the Pearson correlation results, indicating that these traits exhibited co-linked heredity phenomena. Meanwhile, 159 candidate genes were found in all of the above MQTLs intervals, of which, 29 genes encoded E3 ubiquitin protein ligase, which was related with kernel size and weight. Other genes were involved in multiple metabolic processes, including plant hormones signaling transduction, plant growth and development, sucrose–starch synthesis and metabolism, and reproductive growth. Overall, the results will provide reliable genetic resources for high-yield molecular breeding in maize. Full article

Background/Objectives: Gastric cancer (GC) remains a leading cause of cancer mortality worldwide. While most cases are sporadic, approximately 10% show familial clustering with only a minority explained by known hereditary syndromes. The remaining, termed familial non-hereditary gastric cancer (FNHGC), lack a defined high-penetrance germline mutation. This review aims to summarize current knowledge regarding the diagnosis, risk factors, molecular characteristics and management of FNHGC. Methods: A comprehensive narrative review of the literature was conducted focusing on epidemiologic, molecular and clinical studies addressing families with multiple GC cases but no identified germline mutation. Results: The etiology of FNHGC is multifactorial, and H. pylori, with its related chronic gastritis, is probably the key driver. Familial clustering likely occurs when combined with other elements such as genetic polymorphisms, shared exposures to risk factors or even epigenetic phenomena. Molecular profiling reveals distinct patterns in familial tumors such as more frequent microsatellite instability; somatic CDH1 promoter hypermethylation; and recurrent somatic mutations in TP53, RHOA and DNA repair genes. Current management focuses on genetic testing to rule out hereditary syndromes, endoscopic surveillance and mitigation of risk factors, with eradication of H. pylori paramount. Conclusions: FNHGC represents a distinct subgroup of GC characterized by a multifactorial etiology related to exposure to risk factors and genetic susceptibility although significant gaps remain in fully explaining the condition. Ongoing research holds promise to provide tools for better detection and prevention in order to reduce the burden of GC in familial settings. Full article

Inborn errors of immunity (IEI) encompass a diverse group of genetic disorders that often present with complex and multifaceted clinical features, including neuroinflammation. CTLA-4 deficiency (CTLA-4d), caused by monoallelic germline mutations in the CTLA4 gene, manifests with autoimmune phenomena, lymphoproliferation, infections, and neurological involvement in up to 30% of patients, with a broad clinical spectrum, ranging from encephalitis to demyelination and lymphocytic infiltration. Imaging typically shows multifocal contrast-enhancing lesions. Early recognition of CTLA-4d is crucial to guide clinical management. Herein, we report the case of a 15-year-old girl presenting with severe multifocal neuroinflammatory lesions, recurrent infections, and systemic granulomatous disease. After extensive infectious and immunological workup, a heterozygous de novo CTLA4 variant c.394G>A_p.Glu132Lys was identified and its pathogenicity confirmed by transendocytosis functional assays. Based on the genetic diagnosis, the patient was started on abatacept, with brilliant clinical and radiological results after dose adjustment. This report describes a new pathogenic variant of the CTLA4 gene and highlights the importance of considering IEIs, such as CTLA-4d, in patients with unexplained severe neuroinflammation. Also, it highlights the efficacy and tolerability of abatacept as a targeted therapy for neuroinflammation in CTLA4-d. Full article

After a brief review of the concept of fertility in antiquity—from mythological, historical, religious, and artistic perspectives—this conceptual review examines the evolution of the notion of fertility in fruit growing, considering both its biological and agronomic dimensions. The discussion addresses the phenomena underlying the production process and the quantitative and qualitative yields of fruit trees, including the interactions between vegetative growth and reproductive aspects, as well as various interferences—such as alternate bearing or sterility—that mediate between potential and actual fertility. These aspects are analyzed in light of both well-established studies and the most recent research findings. Furthermore, a holistic and comprehensive approach is presented, aiming to transcend the limitations of a purely biological interpretation and to clarify certain ambiguities in the use of the term “fertility,” with particular focus on the physiology of flowering and fruiting in a paradigmatic Mediterranean fruit tree species (Olea europaea L. subsp. europaea var. europaea). Finally, the potential contributions of recent advances in the understanding of flowering and fruiting biology are discussed, particularly in relation to genetic improvement and the development of simulation models for the bio-agronomic behavior of fruit trees. Future perspectives are also explored, especially regarding bio-agronomic strategies to address alternate bearing. Full article

The increasing reliance on light-based antimicrobial technologies, such as antimicrobial blue light (aBL) and antimicrobial photodynamic inactivation (aPDI), underscores the urgent need to comprehend bacterial survival strategies beyond conventional resistance. Two key phenotypes—tolerance and resilience—have emerged as critical but often conflated mechanisms by which bacteria withstand oxidative and photodynamic stress. While tolerance refers to delayed bacterial killing without changes in MIC, resilience encompasses the active restoration of cellular function after transient stress exposure. Both phenomena may impair treatment outcomes and contribute to long-term persistence, even in the absence of genetic resistance. This review dissects the molecular mechanisms underlying tolerance and resilience, with a focus on their relevance to bacterial responses to reactive oxygen species generated by light-based or chemical stressors. The regulatory and effector overlap between these phenotypes is examined, including antioxidant defense systems, DNA repair pathways, and metabolic rewiring. Furthermore, the role of phenotypic heterogeneity and cross-stress protection in blurring the boundary between survival and recovery is discussed, highlighting challenges in experimental interpretation. Finally, the implications of these adaptive strategies are evaluated in the context of antimicrobial efficacy and safety, with an emphasis on kinetic assays and multidimensional profiling as tools to capture complex treatment outcomes. Clarifying the distinction between tolerance and resilience may help guide the development of robust and evolutionarily stable antimicrobial phototherapies. Full article

Both sex-related factors and gender-related factors affect the immediate and long term mental and physical health impacts of disasters, including those resulting from public health emergencies, climate-related events, and naturally occurring phenomena. These include sex-specific biological, physiological and genetic processes, mechanisms underlying reproduction, disease outcomes, and stress, immune, and trauma responses. Gendered factors such as roles, relations, identity, and institutional policies that have an impact on caregiving, occupation, gender-based violence, and access to healthcare, also influence the impacts of disasters and emergencies. Sex/gender factors interact with a range of social determinants to affect the equitability of impacts. A rapid review was conducted to examine evidence from Australia, Canada, countries from the European Union, New Zealand, the United Kingdom (UK), and the United States of America (USA) on the influence of sex- and gender-related factors in the context of disasters, such as COVID-19, earthquakes, floods, hurricanes, and wildfires. This article describes and categorizes this evidence with attention to real-world impacts of the interactions between sex, gender, and other equity related factors. Broad considerations for improving research and practices to support more sex and gender research in this area and ultimately, to improve emergency and disaster management, are discussed. Full article

Thanks to its ethological and physiological characteristics, the hedgehog is a synanthropic species of particular importance for the maintenance and possible spread of pathogens, some of which are zoonotic. Among these, we can include the mammalian orthoreovirus (MRV), which is characterized by respiratory, gastrointestinal, and neurological symptoms in both animals and humans. MRV is characterized by a high capacity for genetic reassortment and intragenic rearrangement, and the ability to infect a wide range of mammals. This work aims to investigate the presence of MRVs and its genomic characterization in hedgehogs. During the two-year period from 2022 to 2023, the intestine and lungs were collected from 293 hedgehogs and subjected to real-time PCR to detect the L1 gene. Positive samples were subjected to a typing RT-PCR targeting a portion of the S1 gene and then to sequencing. A total of 38 hedgehogs tested positive by real-time PCR (p = 13%). Typing RT-PCR demonstrated the positivity of 25 samples for serotype 3. Four samples, representative of the main groups recognized during the phylogenetic analysis, underwent whole genome sequencing, revealing the presence of reassortment phenomena between strains related to bats, chamois, and human MRVs. Full article

Autism spectrum disorder (ASD) deals with several symptoms, including language and speech impairment and developmental delays. The main brain regions affected could be the prefrontal cortex (PFC) or the temporal lobe. The detrimental features could include oxidative stress, mitochondrial dysfunction, and neuroinflammation. Most often, these phenomena are interrelated and can lead to one another, creating a vicious cycle. They also influence the regulation of certain genes involved in the pathogenesis of ASD or related behavior. In the brain regions prone to these detrimental features, a cascade of free radicals, inflammatory cytokines, and mitochondrial energy disruptions is initiated. These actions during the prenatal or developmental stage of the child potentially lead to ASD symptomatic features, such as social isolation, communication difficulty, speech and language impairment, cognitive dysfunction, and intellectual disability. The more recent theories, including genetics, epigenetics, and the gut–brain axis, have been demonstrated to play a greater role in ASD pathology, often being associated with the more common ones as mentioned above. We also introduced some of the neurological disorders possessing shared genetic and behavioral traits with ASD. Many genes playing a role in ASD-like features and their potential targeted drugs were explained briefly. However, there are limited therapeutic options, and molecular pathways related to this disorder are less explored. Currently, researchers and therapists are racing to uncover a concrete remedy. This review also provides a brief outline of potential antioxidant, mitochondrial, and anti-inflammatory therapies. We finally included some novel strategies to diagnose and manage autistic pathology and symptoms. Full article

The once mysterious “dark matter of nutrition”, comprising countless plant-derived secondary compounds, also known as phytochemicals, is now understood to have significant and wide-ranging effects on consumers, including myriad health benefits in humans and livestock. The selective consumption of phytochemically rich and diverse plants, in appropriate doses, by ruminants represents an adaptive means of therapeutic and prophylactic self-medication. Due to their chemical structure, phytochemicals have long been recognized as antioxidants. However, the mechanisms that underlie numerous additional phytochemical-based health benefits are generally less understood. These effects (i.e., anti-inflammatory, immunomodulatory, and anticarcinogenic effects) are likely related to epigenetic processes. Evidence in humans and rodent models, as well as emerging ruminant data, has shown that phytochemicals can modulate gene expression by inhibiting or enhancing the activity of chromatin modifiers. The implication of adaptations with epigenetic mechanisms is significant as they are potentially heritable. We argue that heritable epigenetic changes, including “fetal programming”, are commonplace in ruminants under nutritional interventions. We also argue that these phenomena are significant for an industry that relies upon the efficient breeding and growth of offspring. We highlight emerging yet limited evidence and offer direction for future research. We explore interactions between the fields of plant secondary chemistry, ruminant nutrition, and molecular (epi)genetics and aim to familiarize researchers with the scope and foundational concepts of these emerging interactions. Full article

Background: Uniparental disomy (UPD) refers to the condition in which both chromosomes (or part of chromosome) of a pair are inherited from the same parent. There are two types of UPD: uniparental isodisomy (both chromosomes inherited from one parent are identical copies) and uniparental heterodisomy (two different chromosomes are inherited from one parent). UPD presents two primary developmental risks: recessive trait inheritance or an imprinting disorder. These risks may coexist, leading to an ultra-rare comorbidity. Managing the comorbidities associated with rare diseases presents unique clinical challenges. Results: The existence of such phenomena is evidenced by our case report of a boy who was ultimately diagnosed with two rare diseases: Prader–Willi syndrome (PWS), due to the maternal uniparental disomy of chromosome 15 (UPD), and autosomal recessive Lodder–Merla type 1 syndrome, linked to a novel pathogenic variant in the G protein subunit β 5 (GNB5) gene, as detailed in this paper. Conclusions: An unusual or severe phenotype in a patient diagnosed with PWS should invariably prompt the consideration of a comorbid genetic disease attributable to genes located in the PWS critical region of chromosome 15q, or elsewhere on chromosome 15. In cases of epileptic encephalopathy with cardiac arrhythmia, prompt consultation with a cardiologist and comprehensive genetic testing are essential to reduce the risks associated with untreated arrhythmia and ensure the provision of appropriate and safe anti-epileptic therapy. The presented case provides further support for the hypothesis that uniparental disomy may serve as an underlying cause of Lodder–Merla syndrome. This underscores the significance of comprehensive genetic testing, encompassing parental testing and familial cascade testing (in selected cases where there is consanguinity, or the likelihood of close common ancestral background between partners) to establish the recurrence risk. Full article

Over the past two decades, Mesoamerican endemic nephropathy (MeN) has become a major public health problem in certain regions of Mexico and Central American countries. The etiology of this disease is multifactorial, and important environmental factors have been described, such as chronic heat stress, recurrent episodes of dehydration, infections, and exposure to toxins of chemical and biological origin. Genetic and epigenetic factors have been proposed to play significant roles in MeN. Recent studies have analyzed the role of these factors in MeN. In some cases, these factors appear to be associated with accelerated deterioration of established kidney disease due to preexisting endothelial dysfunction and tubulopathy. In other cases, they appear to be associated with early kidney damage, even before occupational exposure, suggesting that they may play a relevant role in the genesis of the disease. Other factors appear to act as risk reducers for developing MeN in areas with a high prevalence of the disease. Therefore, this disease has a rather complex multifactorial etiology, with possible polygenic contributions, possible epigenetic phenomena, and multiple environmental factors. Full article

Sickle cell disease (SCD) is a group of recessive diseases caused by the β^S sickling mutation of HBB in homozygosity or in compound heterozygosity with other pathogenic HBB mutations. Patients with severe SCD typically experience painful vaso-occlusive crises and other pain-related phenomena, including acute chest syndrome, priapism, dactylitis, avascular necrosis, and splenic sequestration and infarction. High variability of pain-related phenomena per SCD genotype indicates genetic disease modifiers (GDMs) as pathology determinants and, thus, as critical to prognosis, treatment choice, and therapy development. Articles likely holding genetic information for SCD pain phenomena were identified in PubMed and SCOPUS for article quality assessment and extraction of corresponding GDMs and observations indicative of development areas in our understanding of SCD GDMs. This process led to the initial selection of 183 articles matching the search terms, which, after two-step selection, resulted in the inclusion of 100 articles for content analysis and of significant findings for GDMs from 37 articles. Published data point to gender effects and to 51 GDM SNVs, deletions, and regions, including globin genes and significant overrepresentation of gene ontology pathways related, e.g., to oxidative stress, hypoxia, and regulation of blood pressure. Analyzed articles further pointed to additional candidate GDMs affecting SCD VOC and pain phenomena and to potential confounding factors for GWAS analyses. We found that despite the critical importance of VOC and pain phenomena for SCD pathology, corresponding clinically relevant genetic insights are held back by a shortage of large-scale, systematic multi-ethnic efforts, as undertaken by the INHERENT Network. Full article

Immune cytopenias, such as autoimmune hemolytic anemia, immune thrombocytopenia, and Evans syndrome, are characterized by autoantibodies targeting various blood cells, initiating their destruction. Interactions between T cells, B cells, their ultimate maturational plasma cell descendants, dendritic cells, and macrophages result in antibody production, including the autoreactive ones. Autoimmune phenomena can be idiopathic or associated with various immune dysregulation conditions or malignancies. Interventions disrupting this complex network at different levels have been used to treat immune cytopenias with certain levels of success. Some cases are known to be refractory to many different therapeutic approaches, including the ones eliminating B cells. In some such cases, targeting plasma cells resulted in disease control. Among plasma cell compartments, unique long-lived plasma cells (LLPCs) residing primarily in the bone marrow, are specialized antibody-producing cells with an extended lifespan, capable of persistently secreting antibodies. LLPCs can evade conventional therapeutic strategies designed to target often-proliferating cells. Research focusing on the role of LLPCs in autoimmune phenomena including immune cytopenias has provided evidence for their role, characterized by the sustained production of autoantibodies. Frequent genetic mutations and progression to other immune dysregulation entities have been reported in a group of children with immune cytopenias. This might provide new insights focusing on the potential underlying genetic and epigenetic mechanisms leading to generation and maintenance of LLPCs in autoimmune disorders. We provide a brief review of LLPC biology and evidence for their role in immune cytopenias with potential future implications in this article. Full article

Meta-heuristic algorithms are computational methods inspired by evolutionary processes, animal or plant behaviors, physical events, and other natural phenomena. Due to their success in solving optimization problems, meta-heuristic algorithms are widely used in the literature, leading to the development of novel variants. In this paper, new swarm-based meta-heuristic algorithms, called Improved Roosters Algorithm (IRA), Bipolar Roosters Algorithm (BRA), and Bipolar Improved Roosters Algorithm (BIRA), which are mainly based on Roosters Algorithm (RA), are presented. First, the new versions of RA (IRA, BRA, and BIRA) were compared in terms of performance, revealing that BIRA achieved significantly better results than the other variants. Then, the performance of the BIRA algorithm was compared with the performances of meta-heuristic algorithms widely used in the literature, Standard Genetic Algorithm (SGA), Differential Evolution (DE), Particle Swarm Optimization (PSO), Cuckoo Search (CS), and Grey Wolf Optimizer (GWO), and thus, its success in the literature was tested. Moreover, RA was also included in this test to show that the new version, BIRA, is more successful than the previous one (RA). For all comparisons, 20 well-known benchmark optimization functions, 11 CEC2014 test functions, and 17 CEC2018 test functions, which are also in the CEC2020 test suite, were employed. To validate the significance of the results, Friedman and Wilcoxon Signed Rank statistical tests were conducted. In addition, three commonly used problems in the field of engineering were used to test the success of algorithms in real-life scenarios: pressure vessel, gear train, and tension/compression spring design. The results indicate that the proposed algorithm (BIRA) provides better performance compared to the other meta-heuristic algorithms. Full article

In restricted regions of the rodent brain, neurogenesis persists throughout life, hinting that perhaps similar phenomena may exist in humans. Neural stem cells (NSCs) that reside within the ventricular-subventricular zone (V-SVZ) continually produce functional cells, including neurons that integrate into the olfactory bulb circuitry. The ability to achieve this feat is based on genetically encoded transcriptional programs that are controlled by environmentally regulated post-transcriptional signaling pathways. One such pathway that molds V-SVZ neurogenesis is the mTOR pathway. This pathway integrates nutrient sufficiency with growth factor signaling to control distinct steps of neurogenesis. Alterations in mTOR pathway signaling occur in numerous neurodevelopmental disorders. Here, we provide a narrative review for the role of the mTOR pathway in this process and discuss the use of this region to study the mTOR pathway in both health and disease. Full article