Epigenomics

表观基因组学
  • 文章类型: Journal Article
    背景:抑郁症是影响全球3亿人的最常见的精神障碍之一。缺乏受过精神保健培训的提供者,护理人员在填补这一空白方面至关重要。抑郁症的诊断很大程度上依赖于自我报告的症状和临床访谈,受到隐含偏见的影响。组学方法,包括基因组学,转录组学,表观基因组学,和微生物,是识别抑郁症生物学基础的新方法。机器学习用于分析基因组数据,包括大量、异质,和多维数据集。
    目的:本范围综述旨在回顾现有的关于机器学习方法进行组学数据分析的文献,以识别患有抑郁症的个体。目的是提供对抑郁症诊断过程的替代客观和驱动见解的见解。
    方法:本范围审查报告遵循PRISMA-ScR(系统审查的首选报告项目和范围审查的Meta分析扩展)指南。在3个数据库中进行搜索以确定相关出版物。共有3名独立研究人员进行了筛查,差异以协商一致方式解决。使用JoannaBriggs研究所关键评估清单进行关键评估,以进行分析横截面研究。
    结果:筛选过程确定了15篇相关论文。组学方法包括基因组学,转录组学,表观基因组学,Multiomics,和微生物,机器学习方法包括随机森林,支持向量机,k-最近邻,和人工神经网络。
    结论:本范围综述的结果表明,组学方法在识别与抑郁症相关的组学变异方面具有相似的性能。所有机器学习方法都根据其性能指标表现良好。当组学数据中的变异与抑郁风险增加相关时,重要的下一步是临床医生,尤其是护士,评估个体的抑郁症状,并提供诊断和任何必要的治疗。
    BACKGROUND: Depression is one of the most common mental disorders that affects >300 million people worldwide. There is a shortage of providers trained in the provision of mental health care, and the nursing workforce is essential in filling this gap. The diagnosis of depression relies heavily on self-reported symptoms and clinical interviews, which are subject to implicit biases. The omics methods, including genomics, transcriptomics, epigenomics, and microbiomics, are novel methods for identifying the biological underpinnings of depression. Machine learning is used to analyze genomic data that includes large, heterogeneous, and multidimensional data sets.
    OBJECTIVE: This scoping review aims to review the existing literature on machine learning methods for omics data analysis to identify individuals with depression, with the goal of providing insight into alternative objective and driven insights into the diagnostic process for depression.
    METHODS: This scoping review was reported following the PRISMA-ScR (Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews) guidelines. Searches were conducted in 3 databases to identify relevant publications. A total of 3 independent researchers performed screening, and discrepancies were resolved by consensus. Critical appraisal was performed using the Joanna Briggs Institute Critical Appraisal Checklist for Analytical Cross-Sectional Studies.
    RESULTS: The screening process identified 15 relevant papers. The omics methods included genomics, transcriptomics, epigenomics, multiomics, and microbiomics, and machine learning methods included random forest, support vector machine, k-nearest neighbor, and artificial neural network.
    CONCLUSIONS: The findings of this scoping review indicate that the omics methods had similar performance in identifying omics variants associated with depression. All machine learning methods performed well based on their performance metrics. When variants in omics data are associated with an increased risk of depression, the important next step is for clinicians, especially nurses, to assess individuals for symptoms of depression and provide a diagnosis and any necessary treatment.
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  • 文章类型: Journal Article
    先兆子痫是一种多系统进行性疾病,是最严重的妊娠并发症之一。由于其发病机制不明确,子痫前期没有精确有效的治疗靶点,唯一可用的治疗策略是终止妊娠并消除临床症状。近年来,非编码RNA已成为先兆子痫研究的热点,并有望成为先兆子痫早期诊断的有效生物标志物。PIWI相互作用的RNA,与PIWI蛋白相互作用的新型小的非编码RNA,在转录或转录后水平参与各种疾病的发病机理。然而,PIWI相互作用RNA在先兆子痫发病机制中的作用机制尚不清楚.在这次审查中,我们讨论了PIWI相互作用RNA生物发生的现有研究的结果,功能,以及它们在先兆子痫中的可能作用,为PIWI相互作用的RNA在先兆子痫的早期诊断和临床治疗中的潜在应用提供了新的见解。
    Preeclampsia is a multisystem progressive condition and is one of the most serious complications of pregnancy. Owing to its unclear pathogenesis, there are no precise and effective therapeutic targets for preeclampsia, and the only available treatment strategy is to terminate the pregnancy and eliminate the clinical symptoms. In recent years, non-coding RNAs have become a hotspot in preeclampsia research and have shown promise as effective biomarkers for the early diagnosis of preeclampsia over conventional biochemical markers. PIWI-interacting RNAs, novel small non-coding RNA that interact with PIWI proteins, are involved in the pathogenesis of various diseases at the transcriptional or post-transcriptional level. However, the mechanisms underlying the role of PIWI-interacting RNAs in the pathogenesis of preeclampsia remain unclear. In this review, we discuss the findings of existing studies on PIWI-interacting RNA biogenesis, functions, and their possible roles in preeclampsia, providing novel insights into the potential application of PIWI-interacting RNAs in the early diagnosis and clinical treatment of preeclampsia.
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  • 文章类型: Journal Article
    牙科植入物表面及其独特的特性可以通过表观遗传线索与周围的口腔组织相互作用。本范围审查提供了有关牙科植入物表面改性的最新观点,它们对骨整合过程的影响,以及植入物表面特性和表观遗传学之间的相互作用,也在种植体周围疾病中。这篇综述的研究结果表明,创新的表面处理对细胞的表观遗传机制的影响,在骨整合的早期阶段显示出有希望的结果。具有亲水性的牙科植入物表面,纳米结构化,多功能涂料,和整合的药物释放系统已经证明了早期骨粘连的有利结果,增加抗菌功能,和改善骨整合。改性表面形态之间的相互作用,不同的化学表面能,和/或口腔组织内分子的释放已被证明影响由物理-化学相互作用引起的周围组织的表观遗传机制。种植体周围的表观遗传变化在健康和疾病状态下是不同的。总之,表观遗传学功能化牙种植体表面修饰的新兴方法具有巨大潜力,对骨整合过程中调节骨愈合具有重大影响。
    Dental implant surfaces and their unique properties can interact with the surrounding oral tissues through epigenetic cues. The present scoping review provides current perspectives on surface modifications of dental implants, their impact on the osseointegration process, and the interaction between implant surface properties and epigenetics, also in peri-implant diseases. Findings of this review demonstrate the impact of innovative surface treatments on the epigenetic mechanisms of cells, showing promising results in the early stages of osseointegration. Dental implant surfaces with properties of hydrophilicity, nanotexturization, multifunctional coatings, and incorporated drug-release systems have demonstrated favorable outcomes for early bone adhesion, increased antibacterial features, and improved osseointegration. The interaction between modified surface morphologies, different chemical surface energies, and/or release of molecules within the oral tissues has been shown to influence epigenetic mechanisms of the surrounding tissues caused by a physical-chemical interaction. Epigenetic changes around dental implants in the state of health and disease are different. In conclusion, emerging approaches in surface modifications for dental implants functionalized with epigenetics have great potential with a significant impact on modulating bone healing during osseointegration.
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  • 文章类型: Journal Article
    单细胞测序技术增强了我们对整个怀孕期间细胞动力学的理解。我们概述了单细胞测序技术的工作流程,并回顾了母婴健康中的单细胞研究。我们使用PubMed对母婴健康的单细胞研究进行了文献综述。我们总结了来自人类和哺乳动物胎盘的16个单细胞图谱的发现,这些图谱跨越妊娠阶段,以及31个关于母体暴露和包括感染在内的并发症的单细胞研究。肥胖,饮食,妊娠期糖尿病,先兆子痫,环境暴露和早产。单细胞研究提供了有关胎盘中新型细胞类型和与母体暴露和并发症相关的细胞类型特异性标记的见解。
    单细胞测序技术在细胞水平上为怀孕提供了新的生物学见解。我们回顾了这些技术及其在母婴健康研究中的应用,包括16个胎盘细胞数据库和31个关于怀孕期间健康挑战的研究,如COVID感染。在特定细胞群中发现了新的细胞类型和生物学途径。
    Single-cell sequencing technologies enhance our understanding of cellular dynamics throughout pregnancy. We outlined the workflow of single-cell sequencing techniques and reviewed single-cell studies in maternal and child health. We conducted a literature review of single cell studies on maternal and child health using PubMed. We summarized the findings from 16 single-cell atlases of the human and mammalian placenta across gestational stages and 31 single-cell studies on maternal exposures and complications including infection, obesity, diet, gestational diabetes, pre-eclampsia, environmental exposure and preterm birth. Single-cell studies provides insights on novel cell types in placenta and cell type-specific marks associated with maternal exposures and complications.
    Single-cell sequencing technologies offer new biological insights on pregnancy at the cellular level. We reviewed these technologies and their applications in maternal and child health studies, including 16 placenta cell databases and 31 studies on health challenges during pregnancy such as COVID infection. New cell types and biological pathways among specific groups of cells were found.
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  • 文章类型: Journal Article
    男性不育是一种生殖障碍,占不孕症的40-50%。目前,在大约70%的不育男性中,原因仍然未知。随着新型组学的引入和高通量技术的进步,潜在的生物标志物正在出现。我们工作的主要目的是概述与特发性男性不育相关的组学方法的不同方面,并突出潜在基因。成绩单,非编码RNA,蛋白质,和代谢物值得进一步探索。使用基因本体论(GO)分析,我们旨在比较来自每种组学方法的丰富的GO术语,并确定它们的重叠。PubMed数据库对2014年2月至2022年6月之间发表的文献进行了筛选,使用关键词:与不同组学方法相关的男性不育:基因组学,表观基因组学,转录组学,ncRNA组学,蛋白质组学,和代谢组学。使用Enrichr工具进行GO富集分析。我们检索了281项全球研究:171项基因组学(DNA水平),21表观基因组学(19个甲基化和两个组蛋白残基修饰),15个转录组学,31个非编码RNA,29蛋白质组学,两种蛋白质翻译后修饰,和19个代谢组学研究。基因本体论比较表明,不同的组学方法导致不同分子因子的鉴定,并且相应的GO术语,从不同的组学方法中获得,不要在更大程度上重叠。随着新的组学水平融入男性不育的特发性原因研究,使用多组学系统生物学方法,我们将更接近找到潜在的生物标志物,从而意识到男性不育的整个范围,他们的事业,预后,潜在的治疗。
    Male infertility is a reproductive disorder, accounting for 40-50% of infertility. Currently, in about 70% of infertile men, the cause remains unknown. With the introduction of novel omics and advancement in high-throughput technology, potential biomarkers are emerging. The main purpose of our work was to overview different aspects of omics approaches in association with idiopathic male infertility and highlight potential genes, transcripts, non-coding RNA, proteins, and metabolites worth further exploring. Using the Gene Ontology (GO) analysis, we aimed to compare enriched GO terms from each omics approach and determine their overlapping. A PubMed database screening for the literature published between February 2014 and June 2022 was performed using the keywords: male infertility in association with different omics approaches: genomics, epigenomics, transcriptomics, ncRNAomics, proteomics, and metabolomics. A GO enrichment analysis was performed using the Enrichr tool. We retrieved 281 global studies: 171 genomics (DNA level), 21 epigenomics (19 of methylation and two histone residue modifications), 15 transcriptomics, 31 non-coding RNA, 29 proteomics, two protein posttranslational modification, and 19 metabolomics studies. Gene ontology comparison showed that different omics approaches lead to the identification of different molecular factors and that the corresponding GO terms, obtained from different omics approaches, do not overlap to a larger extent. With the integration of novel omics levels into the research of idiopathic causes of male infertility, using multi-omic systems biology approaches, we will be closer to finding the potential biomarkers and consequently becoming aware of the entire spectrum of male infertility, their cause, prognosis, and potential treatment.
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  • 文章类型: Journal Article
    心房颤动(AF)是全球最常见的心律失常,与一系列不良临床结果相关。越来越多的证据表明,先天免疫反应导致的炎症过程是AF发病机理的基石。影响白细胞的遗传和表观遗传因素已被确定为炎症反应的关键调节剂。编码参与先天免疫反应的蛋白质的基因中的遗传变体与AF患者的AF复发和中风的风险增加相关。此外,与不确定潜力的克隆造血相关的获得性体细胞突变,白细胞端粒缩短,表观遗传年龄加速导致房颤风险增加。在携带不确定潜力的克隆造血的个体中,心肌单核细胞衍生的巨噬细胞向促炎表型转移可能会导致房颤。需要进一步的研究来更好地了解遗传调节天然免疫反应在房性心律失常发生中的作用及其作为个性化药物靶标的治疗潜力。
    Atrial fibrillation (AF) is the most common cardiac arrhythmia worldwide and is associated with a range of adverse clinical outcomes. Accumulating evidence points to inflammatory processes resulting from innate immune responses as a cornerstone in AF pathogenesis. Genetic and epigenetic factors affecting leukocytes have been identified as key modulators of the inflammatory response. Inherited variants in genes encoding proteins involved in the innate immune response have been associated with increased risk for AF recurrence and stroke in AF patients. Furthermore, acquired somatic mutations associated with clonal hematopoiesis of indeterminate potential, leukocyte telomere shortening, and epigenetic age acceleration contribute to increased AF risk. In individuals carrying clonal hematopoiesis of indeterminate potential, myocardial monocyte-derived macrophage shift toward a proinflammatory phenotype may precipitate AF. Further studies are needed to better understand the role of genetic regulation of the native immune response in atrial arrhythmogenesis and its therapeutic potential as a target for personalized medicine.
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  • 文章类型: Journal Article
    骨关节炎是世界上残疾的主要原因。科学文献强调了表观遗传调节作用的关键重要性,与每个肌肉骨骼区内的生物力学和生化特殊条件交织在一起。虽然遗传和表观遗传因素对膝关节OA的贡献是公认的,它们在疾病管理中的确切作用仍然是一个活跃的研究领域。这样的领域是特别异质的,呼吁定期分析和总结科学文献中不断涌现的数据,通常是稀疏的,缺乏整合。这项研究的目的是系统地识别和综合2020年至2023年发表的人类和动物模型研究中出现的所有新证据。这是必要的,因为,据我们所知,2019年之前(部分是2020年)发表的文章已经被纳入系统评价中,以确定与膝关节有关的文章。审查是根据系统审查和荟萃分析(PRISMA)指南的优先报告项目进行的。只考虑纳入同行评审的文章。总共确定了40项研究,在生物标志物鉴定方面显示出有希望的结果,对膝关节OA的作用机制或潜在治疗靶点的新见解。DNA甲基化,组蛋白修饰和ncRNA都是参与膝关节表观遗传调控的机制。最近的证据表明,表观遗传学是一个最有前途的领域,其长期目标是提高对膝关节OA的理解和管理。但是各种研究方法需要更大的整合。
    Osteoarthritis is a leading cause of disability in the world. The scientific literature highlights the critical importance of epigenetic regulatory effects, intertwined with biomechanical and biochemical peculiar conditions within each musculoskeletal district. While the contribution of genetic and epigenetic factors to knee OA is well-recognized, their precise role in disease management remains an area of active research. Such a field is particularly heterogeneous, calling for regular analysis and summarizing of the data that constantly emerge in the scientific literature, often sparse and scant of integration. The aim of this study was to systematically identify and synthesize all new evidence that emerged in human and animal model studies published between 2020 and 2023. This was necessary because, to the best of our knowledge, articles published before 2019 (and partly 2020) had already been included in systematic reviews that allowed to identify the ones concerning the knee joint. The review was carried out in accordance with Preferential Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Only peer-reviewed articles were considered for inclusion. A total of 40 studies were identified, showing promising results in terms either of biomarker identification, new insight in mechanism of action or potential therapeutic targets for knee OA. DNA methylation, histone modification and ncRNA were all mechanisms involved in epigenetic regulation of the knee. Most recent evidence suggests that epigenetics is a most promising field with the long-term goal of improving understanding and management of knee OA, but a variety of research approaches need greater consolidation.
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  • 文章类型: Journal Article
    肌内脂肪(IMF)沉积对肉牛生产中的肉质量和经济价值产生了深远的影响。同时,表观遗传学的当代发展为理解国际货币基金组织监管的分子基础开辟了新的前景,它已经成为世界学者研究的重点领域。因此,本文的目的是提供有关肉牛表观遗传机制与IMF沉积之间复杂关系的见解和综合。该方法涉及对现有文献的彻底分析,包括相关的书籍,学术期刊,和在线资源,全面概述表观遗传研究在肉牛IMF沉积中的作用。这篇综述总结了IMF调控中表观遗传机制的当代研究,高分辨率表观基因组作图,单细胞表观基因组学,多组学整合,表观基因组编辑方法,牛生长的纵向研究,环境表观遗传学,表观遗传学中的机器学习,道德和监管方面的考虑,并从IMF在肉牛中的沉积角度转化为行业实践。此外,本文重点介绍了DNA甲基化,组蛋白修饰,乙酰化,磷酸化,泛素化,非编码RNA,DNA羟甲基化,表观遗传读者,作家,和橡皮擦,染色质免疫沉淀,然后测序,全基因组亚硫酸氢盐测序,全表观基因组关联研究,以及它们对控制脂肪生成和脂质代谢的关键基因表达的深远影响。营养和应激对表观遗传修饰和IMF沉积也有显著影响。主要发现强调了表观遗传学研究在理解和增强肉牛中IMF沉积方面的关键作用,对精准畜牧业和伦理畜牧业管理具有重要意义。总之,这篇综述强调了表观遗传途径和环境因素在影响肉牛IMF沉积中的重要意义,为提高牛生产的经济性和肉质提供有见地的信息。
    Intramuscular fat (IMF) deposition profoundly influences meat quality and economic value in beef cattle production. Meanwhile, contemporary developments in epigenetics have opened new outlooks for understanding the molecular basics of IMF regulation, and it has become a key area of research for world scholars. Therefore, the aim of this paper was to provide insight and synthesis into the intricate relationship between epigenetic mechanisms and IMF deposition in beef cattle. The methodology involves a thorough analysis of existing literature, including pertinent books, academic journals, and online resources, to provide a comprehensive overview of the role of epigenetic studies in IMF deposition in beef cattle. This review summarizes the contemporary studies in epigenetic mechanisms in IMF regulation, high-resolution epigenomic mapping, single-cell epigenomics, multi-omics integration, epigenome editing approaches, longitudinal studies in cattle growth, environmental epigenetics, machine learning in epigenetics, ethical and regulatory considerations, and translation to industry practices from perspectives of IMF deposition in beef cattle. Moreover, this paper highlights DNA methylation, histone modifications, acetylation, phosphorylation, ubiquitylation, non-coding RNAs, DNA hydroxymethylation, epigenetic readers, writers, and erasers, chromatin immunoprecipitation followed by sequencing, whole genome bisulfite sequencing, epigenome-wide association studies, and their profound impact on the expression of crucial genes governing adipogenesis and lipid metabolism. Nutrition and stress also have significant influences on epigenetic modifications and IMF deposition. The key findings underscore the pivotal role of epigenetic studies in understanding and enhancing IMF deposition in beef cattle, with implications for precision livestock farming and ethical livestock management. In conclusion, this review highlights the crucial significance of epigenetic pathways and environmental factors in affecting IMF deposition in beef cattle, providing insightful information for improving the economics and meat quality of cattle production.
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  • 文章类型: Review
    胆囊癌(GBC)是一种以显著的细胞异质性为特征的安静、普遍和侵袭性胆道恶性肿瘤。转移活性,预后不良,全球频率不同。大多数病例是在对胆囊切除术组织进行常规筛查成像或病理检查时偶然发现的,通常表现为晚期疾病。手术切除通常在具有有限扩散的初始临床阶段进行。尽管有手术治疗,死亡率很高。此外,影响炎症胆囊癌变的临床过程的分子机制仍然知之甚少。迫切需要开发用于GBC的诊断生物标志物和靶向方法。较新的分子平台,例如下一代测序(NGS),如RNA测序(RNAseq),单细胞测序,和微阵列技术,彻底改变了基因组学领域,在定义遗传和表观遗传特征,识别分子作为可能的治疗靶标方面开辟了新的视角。因此,在这次审查中,我们将使用2010年至2023年发表的基于高通量测序的研究来分析GBC的转录组和表观基因组学谱.该审查还将分析技术进步对患者管理策略和总体生存率的可能影响。这也可能有助于确定与GBC相关的靶基因和途径,这可能有助于建立分子生物标志物,早期GBC诊断,个性化治疗,和管理。
    UNASSIGNED: Gallbladder cancer (GBC) is one of the quiet prevalent and aggressive biliary tract malignant neoplasms distinguished by significant cellular heterogeneity, metastatic activity, and a poor prognosis, with varied frequency worldwide. Most cases are detected incidentally while routine screening imaging or pathological investigation of cholecystectomy tissues and usually present with advanced disease. The surgical resection is usually done in the initial clinical stage having limited spread. Despite the surgical therapy, the death rate is significant. Furthermore, the molecular mechanisms affecting the clinical course of inflammatory gallbladder to carcinogenesis remain poorly understood. There is an impending need for developing diagnostic biomarkers and targeted approaches for GBC. The newer molecular platform, such as next-generation sequencing (NGS), such as RNA-sequencing (RNAseq), single-cell sequencing, and microarray technology, has revolutionized the field of genomics, opened a new perspective in defining genetic and epigenetic characteristics identifying molecules as possible therapeutic targets. Therefore, in this review, we would analyze transcriptomic and epigenomics profiles of GBC using already published high-throughput sequencing-based studies published between 2010 and 2023. The review would also analyze the possible impact of the technological advancement on the patient management strategy and overall survival. This may also help identify target genes and pathways linked to GBC, which may help establish molecular biomarkers, for early GBC diagnosis, personalized therapy, and management.
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  • 文章类型: Journal Article
    前列腺癌(PCa)的进展依赖于雄激素对雄激素受体(AR)的激活。尽管努力通过雄激素剥夺治疗阻断这一途径,抗性可以通过几种机制发生,包括AR的异常激活,在引入治疗后导致去势抗性PCa。突变,扩增,AR相关基因中的剪接变体在这方面引起了人们的关注。此外,最近的大规模下一代测序分析揭示了AR和AR相关基因的关键作用,以及DNA修复,PI3K,和细胞周期通路,在PCa的发作和进展中。此外,表观基因组学和microRNA的研究越来越受欢迎;然而,它还没有转化为有效治疗策略的发展。此外,靶向同源重组修复突变和PI3K/Akt途径的治疗已经被开发出来,并且越来越容易获得,多项临床试验研究了免疫检查点抑制剂的疗效。在这次全面审查中,我们概述了基因组学中PCa研究的现状,并简要探讨了表观遗传修饰和microRNA领域的潜在未来发展。
    The progression of prostate cancer (PCa) relies on the activation of the androgen receptor (AR) by androgens. Despite efforts to block this pathway through androgen deprivation therapy, resistance can occur through several mechanisms, including the abnormal activation of AR, resulting in castration-resistant PCa following the introduction of treatment. Mutations, amplifications, and splicing variants in AR-related genes have garnered attention in this regard. Furthermore, recent large-scale next-generation sequencing analysis has revealed the critical roles of AR and AR-related genes, as well as the DNA repair, PI3K, and cell cycle pathways, in the onset and progression of PCa. Moreover, research on epigenomics and microRNA has increasingly become popular; however, it has not translated into the development of effective therapeutic strategies. Additionally, treatments targeting homologous recombination repair mutations and the PI3K/Akt pathway have been developed and are increasingly accessible, and multiple clinical trials have investigated the efficacy of immune checkpoint inhibitors. In this comprehensive review, we outline the status of PCa research in genomics and briefly explore potential future developments in the field of epigenetic modifications and microRNAs.
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