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Evaluation of ARHGAP26 expression, prognostic significance, and immune infiltration in clear cell renal cell carcinoma ARHGAP26在透明细胞肾细胞癌中的表达、预后意义及免疫浸润的评价
IF 2.8 Q3 Biochemistry, Genetics and Molecular Biology Pub Date : 2025-12-01 Epub Date: 2025-11-10 DOI: 10.1016/j.jgeb.2025.100593
Aichun Long , Cheng Huang , Tianyun Li , Yuwei Shi , Cuiwei Zhang
Renal clear cell carcinoma (KIRC), the most common subtype of renal cell carcinoma, is characterized by high metastatic potential and heterogeneity.The expression pattern of the ARHGAP26 gene in KIRC, its link to patient prognosis, and its role in the TME immunoregulatory network are not well understood, with significant research gaps. We will analyze ARHGAP26 expression using TCGA and GSCALite databases and assess its association with the tumor microenvironment using the ESTIMATE algorithm. Additionally, we will use the GEO database to examine ARHGAP26 expression across different cell subsets in KIRC and evaluate its correlation with immune cell infiltration using TIMER 2.0. Immunohistochemistry (IHC) will be used to confirm differences in ARHGAP26 expression between renal clear cell carcinoma (KIRC) and adjacent normal tissues. ARHGAP26 expression is higher in KIRC, with a significant difference from normal tissues (p < 0.001). In KIRC patients, high ARHGAP26 expression is linked to longer overall, progression-free, and disease-specific survival, suggesting a tumor suppressor role, though it does not affect the disease-free interval. High ARHGAP26 expression may remodel the tumor stroma and alter the tumor microenvironment by changing the tumor-to-non-tumor cell ratio.
肾透明细胞癌(KIRC)是肾细胞癌中最常见的亚型,具有高转移潜力和异质性。ARHGAP26基因在KIRC中的表达模式、与患者预后的关系以及在TME免疫调节网络中的作用尚不清楚,研究空白较大。我们将使用TCGA和GSCALite数据库分析ARHGAP26的表达,并使用ESTIMATE算法评估其与肿瘤微环境的关联。此外,我们将使用GEO数据库检测ARHGAP26在KIRC中不同细胞亚群中的表达,并使用TIMER 2.0评估其与免疫细胞浸润的相关性。免疫组织化学(IHC)将证实ARHGAP26在肾透明细胞癌(KIRC)和邻近正常组织中的表达差异。ARHGAP26在KIRC中的表达较高,与正常组织有显著差异(p < 0.001)。在KIRC患者中,ARHGAP26的高表达与更长的总体、无进展和疾病特异性生存期相关,表明其具有肿瘤抑制作用,尽管它不影响无病期。ARHGAP26的高表达可能通过改变肿瘤细胞与非肿瘤细胞的比例来重塑肿瘤基质,改变肿瘤微环境。
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引用次数: 0
Genetic differentiation of Pisang Awak subvarieties and genetic variation among ‘Mali-Ong’ plantlets in Thailand using RAPD and SRAP markers 利用RAPD和SRAP标记对泰国“麻荔ong”植株的遗传变异及Pisang Awak亚种的遗传分化
IF 2.8 Q3 Biochemistry, Genetics and Molecular Biology Pub Date : 2025-12-01 Epub Date: 2025-10-03 DOI: 10.1016/j.jgeb.2025.100577
Thanita Boonsrangsom , Kawee Sujipuli , Duangporn Premjet
Banana (Musa spp.) is a globally important fruit crop, with most cultivated varieties originating from hybridizations between M. acuminata (A genome) and M. balbisiana (B genome). Triploid ABB hybrids, carrying two B-genome and one A-genome sets, are valued for their stress tolerance and adaptability. In Thailand, ‘Kluai Namwa’ (Pisang Awak) is the most widely cultivated ABB cultivar, but it shows considerable phenotypic variation across subvarieties. Because morphological classification is often unreliable, molecular tools are needed to assess genetic identity and diversity. A total of 28 Thai banana genotypes, representing the AA, BB, and ABB genome groups, were analyzed using RAPD and SRAP markers. RAPD produced 109 bands with 93.6 % polymorphism, while SRAP generated 278 bands with 92.5 % polymorphism, indicating substantial genetic variation. The mean polymorphic information content was 0.22 for RAPD and 0.24 for SRAP, confirming the discriminatory power of both marker systems. UPGMA clustering separated the genotypes into two major clusters corresponding to A- and B-genome contributions, a structure further supported by PCoA. Distinctive bands, such as RAPD primer S7 (2.50 kb) and SRAP combination Me6/Em8 (0.80 kb), specifically identified ‘Kluai Hak Muk’ cooking bananas, demonstrating the potential of these markers for cultivar authentication. The genetic stability of 16 ‘Kluai Namwa Mali-Ong’ plantlets from different locations was also evaluated. Results revealed high clonal uniformity (mean similarity = 0.858) with only minor variation, likely reflecting localized cultivation practices. Overall, RAPD and SRAP markers proved effective for genome identification, diversity assessment, and clonal stability monitoring in Thai bananas. These tools will support banana breeding, germplasm conservation, and reliable authentication of high-value cultivars.
香蕉(Musa spp.)是一种全球重要的水果作物,大多数栽培品种起源于M. acuminata (a基因组)和M. balbisiana (B基因组)的杂交。三倍体ABB杂交种具有2组b基因组和1组a基因组,具有较强的抗逆性和适应性。在泰国,“Kluai Namwa”(Pisang Awak)是种植最广泛的ABB品种,但它在亚种之间表现出相当大的表型差异。由于形态学分类往往是不可靠的,需要分子工具来评估遗传身份和多样性。利用RAPD和SRAP标记分析了泰国香蕉共28个基因型,分别代表AA、BB和ABB基因组群。RAPD产生109个条带,多态性为93.6%,SRAP产生278个条带,多态性为92.5%,遗传变异较大。RAPD的平均多态性信息含量为0.22,SRAP的平均多态性信息含量为0.24,证实了两种标记系统的区分能力。UPGMA聚类将基因型分为A和b基因组贡献的两个主要簇,PCoA进一步支持了这一结构。RAPD引物S7 (2.50 kb)和SRAP组合Me6/Em8 (0.80 kb)等独特的条带特异性地鉴定了“Kluai Hak Muk”烹饪香蕉,表明这些标记在品种鉴定方面具有潜力。并对不同产地的16个‘Kluai Namwa Mali-Ong’植株的遗传稳定性进行了评价。结果表明,克隆均一性较高(平均相似度= 0.858),变异较小,可能反映了栽培方式的局限性。总的来说,RAPD和SRAP标记在泰国香蕉的基因组鉴定、多样性评估和克隆稳定性监测方面是有效的。这些工具将为香蕉育种、种质资源保存和高价值品种的可靠鉴定提供支持。
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引用次数: 0
Molecular Detection of natural bacterial flora within Culex pipiens pipiens (Diptera: Culicidae) in Aleppo, Syria 叙利亚阿勒颇地区库蚊天然菌群的分子检测
IF 2.8 Q3 Biochemistry, Genetics and Molecular Biology Pub Date : 2025-12-01 Epub Date: 2025-10-29 DOI: 10.1016/j.jgeb.2025.100604
Ahmed Allahem , Reem Alajmi , Mais Alzarzor Alajami , Sumaiah Al-Ghamdi , Muhammad Amjad Bashir , Jehan Zeb , Khaloud Mohammed Alarjani , Nawal M Al-Malahi , Rewaida Abdel-Gaber
Culex pipiens complex members have been known as important vectors of medical and veterinary arthropod-borne diseases for many pathogens (viral, bacterial, parasitic). Therefore, this study aimed to investigate natural bacterial flora within the Culex pipiens pipiens (Linnaeus,1758) collected from Aleppo City, Syria. Specimens of Cx. p. pipiens were identified based on a pictorial key. The presence of bacterial species was investigated using the PCR technique and special culture media. Results indicated the presence of mine bacterial species, including Wolbachia pipiens, Moraxella catarrhalis, Klebsiella pneumoniae, Staphylococcus aureus, Escherichia coli, Proteus mirabilis, Corynebacterium kutsceri, Clostridium tetani, and Acinetobacter baumannii. Wolbachia controls the sexual behavior of mosquitoes and therefore can be used in biocontrol.
众所周知,库蚊复合体成员是许多病原体(病毒、细菌、寄生虫)的医学和兽医节肢动物传播疾病的重要媒介。因此,本研究旨在调查收集自叙利亚阿勒颇市的Linnaeus(1758)库蚊的天然菌群。石竹属植物标本。根据图形键对库蚊进行识别。采用PCR技术和特殊培养基对细菌种类进行了检测。结果显示,检出的细菌种类包括:库氏棒状杆菌、卡塔卡莫拉菌、肺炎克雷伯菌、金黄色葡萄球菌、大肠埃希菌、奇异变形杆菌、库氏棒状杆菌、破伤风梭菌和鲍曼不动杆菌。沃尔巴克氏体控制蚊子的性行为,因此可用于生物防治。
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引用次数: 0
STAT4 gene polymorphism promotes progression of rheumatoid arthritis STAT4基因多态性促进类风湿关节炎的进展
IF 2.8 Q3 Biochemistry, Genetics and Molecular Biology Pub Date : 2025-12-01 Epub Date: 2025-10-15 DOI: 10.1016/j.jgeb.2025.100589
Dawood Ali Salim Dawood , Anwar Madlool Al-janabi , Rana Talib Al-Muswie , Lee Suan Chua , U.A. Al‑Sari , Samer Alwazni

Background

Rheumatoid Arthritis (RA) is a chronic autoimmune disease. Right now, different genes play a crucial role in disease development. The objective was to assess the correlation between STAT4 gene polymorphism (SNPs: rs11889341, rs10181656 and rs7574865) and susceptibility to RA progression in Iraqi population.

Methods

Three Hundred Twenty-five RA patients and Three Hundred Twenty-five matched controls were enrolled in this study. The genotyping for SNPs was performed using (Tetra-ARMS) technique. The clinical parameters were obtained through laboratory investigations and clinical examination.

Results

Our results showed obvious statistical significance between cases and control genotypes regarding to SNPs (rs11889341: CC and TT, rs10181656: GG and rs7574865: TT). Additionally, analysis displayed a discrepancy in genotypes frequency of SNPs (rs11889341: CC among family history and Anti-CCP, but TT genotype with RF), (rs7574865: TT within RF and Anti-CCP, GG genotype in relation to family history.

Conclusion

Our study concluded that STAT4 gene polymorphism (SNPs: rs11889341, rs10181656 and rs7574865) were associated with RA development in Iraqi population. Furthermore, the SNPs (rs11889341 and rs7574865) were related to family history, RF and Anti-CCP, while SNP (rs10181656) didn’t display any relation among studied population.
背景类风湿性关节炎(RA)是一种慢性自身免疫性疾病。目前,不同的基因在疾病发展中起着至关重要的作用。目的是评估伊拉克人群中STAT4基因多态性(snp: rs11889341, rs10181656和rs7574865)与RA进展易感性之间的相关性。方法纳入325例RA患者和325例匹配对照。采用(Tetra-ARMS)技术对snp进行基因分型。通过实验室调查和临床检查获得临床参数。结果rs11889341: CC和TT, rs10181656: GG和rs7574865: TT,病例与对照基因型的snp差异有统计学意义。此外,分析显示snp基因型频率(rs11889341: CC在家族史和Anti-CCP之间,但TT基因型与RF之间),(rs7574865: TT在RF和Anti-CCP之间,GG基因型与家族史之间存在差异。结论伊拉克人群中STAT4基因多态性(snp: rs11889341、rs10181656和rs7574865)与RA的发生有关。此外,SNP (rs11889341和rs7574865)与家族史、RF和Anti-CCP相关,而SNP (rs10181656)在研究人群中无相关性。
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引用次数: 0
Structure-based screening and molecular dynamics of phytophytochemicals against pseudomonas aeruginosa quorum sensing systems 抗铜绿假单胞菌群体感应系统植物植物化学物质的结构筛选和分子动力学研究
IF 2.8 Q3 Biochemistry, Genetics and Molecular Biology Pub Date : 2025-12-01 Epub Date: 2025-10-17 DOI: 10.1016/j.jgeb.2025.100603
Sinethemba H. Yakobi, Uchechukwu U. Nwodo
Pseudomonas aeruginosa employs quorum sensing (QS) to regulate virulence and antibiotic resistance, making QS inhibition a promising anti-infective strategy. Here, we computationally evaluated three phytochemicals—baicalin, berberine, and cinnamaldehyde—as QS inhibitors targeting LasR, RhlR, and PqsR regulators. Molecular docking revealed berberine as the most potent PqsR binder (GScore: −6.801 kcal/mol), competitively displacing the native ligand HHQ, while baicalin showed broad-spectrum inhibition of PqsR/RhlR. Cinnamaldehyde exhibited moderate LasR antagonism. Molecular dynamics (100 ns) confirmed complex stability (RMSD < 2.5 Å) and identified key interactions: berberine formed a salt bridge with PqsR Asp264, while baicalin induced allosteric helix destabilization. Pharmacokinetic profiling showed that berberine is rapidly cleared (134.7 mL/min/kg) and poses a risk of drug–drug interactions due to CYP3A4 and CYP2D6 inhibition. This makes formulation strategies or analogue design more suitable than relying on metabolic inhibition. In contrast, baicalin has very poor absorption (bioavailability score: 0.11), indicating that nanoformulation is required to improve its uptake. Cinnamaldehyde demonstrated favourable drug-likeness but required structural optimization to mitigate aldehyde reactivity. This study provides in-silico mechanistic support for phytochemical-mediated QS inhibition in P. aeruginosa, with berberine emerging as a lead candidate for further development. Our integrative approach map water displacement hotspots in PqsR (GIST) and detect a baicalin-linked distal helix perturbation (DSSP) consistent with allostery, and bridges computational prediction and therapeutic design, offering new strategies to combat antimicrobial resistance through virulence attenuation.
铜绿假单胞菌利用群体感应(quorum sensing, QS)调控毒力和耐药性,使QS抑制成为一种很有前景的抗感染策略。在这里,我们计算评估了三种植物化学物质——黄芩苷、小檗碱和肉桂醛——作为针对LasR、RhlR和PqsR调节因子的QS抑制剂。分子对接结果显示,小檗碱是最有效的PqsR结合剂(GScore:−6.801 kcal/mol),可竞争取代天然配体HHQ,而黄芩苷对PqsR/RhlR具有广谱抑制作用。肉桂醛表现出中度的激光抗性。分子动力学(100 ns)证实了配合物的稳定性(RMSD < 2.5 Å),并确定了关键的相互作用:小檗碱与PqsR Asp264形成盐桥,而黄芩苷诱导变构螺旋不稳定。药代动力学分析显示,小檗碱被迅速清除(134.7 mL/min/kg),由于抑制CYP3A4和CYP2D6,存在药物相互作用的风险。这使得配方策略或类似物设计比依赖代谢抑制更合适。相比之下,黄芩苷的吸收非常差(生物利用度评分:0.11),表明需要纳米制剂来提高其吸收。肉桂醛表现出良好的药物相似性,但需要结构优化以减轻醛的反应性。该研究为铜绿假单胞菌中植物化学介导的QS抑制提供了芯片机制支持,小檗碱成为进一步开发的主要候选物质。我们的综合方法绘制了PqsR (GIST)中的水位移热点,检测了与变质一致的黄芩苷连接的远端螺旋扰动(DSSP),并将计算预测与治疗设计联系起来,为通过毒力衰减对抗抗菌药物耐药性提供了新的策略。
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引用次数: 0
Investigating the potential anti-cancer mechanism for thyroid cancer: Role of Herba Epimedii via network pharmacology approach 网络药理学研究淫羊藿对甲状腺癌的潜在抗癌机制
IF 2.8 Q3 Biochemistry, Genetics and Molecular Biology Pub Date : 2025-12-01 Epub Date: 2025-11-12 DOI: 10.1016/j.jgeb.2025.100601
Xuehan Wang , Lin Guo , Yiren Feng, Gang Jin

Objective

To investigate the effective ingredients, crucial molecular targets, and the underlying molecular mechanisms associated with Herba Epimedii (HE) that exhibits anti-cancer effects for treating thyroid cancer (TC) using the network pharmacology approach.

Methods

The Traditional Chinese Medicine Systems Pharmacology (TCMSP) public database was analysed to identify the major bioactive ingredients and target proteins associated with HE. The Human Gene (Gene Cards) database, National Center for Biotechnology Information (NCBI) gene database, and Online Mendelian Inheritance in Man (OMIM) databases were analyzed to search for the disease targets of TC. Based on the overlapped results between HE putative targets and TC targets, the “compound-disease-target” network and a protein–protein interaction (PPI) network were constructed using Cytoscape 3.8.0. The R package was used to perform the Gene Ontology (GO) and the Kyoto Encyclopaedia of Genes and Genomes (KEGG) pathway enrichment analyses. Finally, the “compound-disease-pathway-target” network was drawn by integrating all the information.

Results

The results indicated that there were 23 effective bioactive ingredients associated with HE, covering 203 targets, 145 of which were related to TC. Through PPI network topological analysis, 53 targets (including AKT1, JUN, MAPK1, RELA, and IL6) were identified as the major targets of HE. Results recorded from GO functional analyses revealed that significant biological processes were enriched. Results from KEGG analyses revealed that the pathways, such as the TNF, IL-17, and PI3K-Akt signaling pathways, played vital roles in the HE intervention for TC.

Conclusion

We revealed the potential mechanisms through which HE exerts anti-cancer effects in the case of TC. A holistic perspective on multiple ingredients, targets, and pathways has been presented, and the results can potentially help in developing new treatment methods for TC.
目的利用网络药理学方法研究淫羊藿(HE)抗癌甲状腺癌的有效成分、关键分子靶点及其分子机制。方法分析中药系统药理学(TCMSP)公共数据库,确定HE的主要生物活性成分和靶蛋白。分析人类基因(Gene Cards)数据库、国家生物技术信息中心(NCBI)基因数据库和人类在线孟德尔遗传(OMIM)数据库,寻找TC的疾病靶点。基于HE推定靶点与TC靶点的重叠结果,利用Cytoscape 3.8.0构建“复合物-疾病-靶点”网络和蛋白-蛋白相互作用(PPI)网络。使用R包进行基因本体(GO)和京都基因与基因组百科全书(KEGG)途径富集分析。最后,综合所有信息绘制出“复合-疾病-通路-靶点”网络。结果HE相关有效活性成分23种,覆盖203个靶点,其中145个与TC相关。通过PPI网络拓扑分析,确定了53个靶点(包括AKT1、JUN、MAPK1、RELA、IL6)为HE的主要靶点。氧化石墨烯功能分析记录的结果显示,重要的生物过程得到了丰富。KEGG分析结果显示,TNF、IL-17和PI3K-Akt信号通路在HE干预TC中发挥了重要作用。结论揭示了HE在TC中发挥抗癌作用的可能机制。对多种成分,靶点和途径的整体观点已经提出,结果可能有助于开发新的治疗方法。
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引用次数: 0
Therapeutic potential of Xylocarpus granatum bark extracts: antioxidant, anti-inflammatory, cytotoxic and molecular insights 皮草树皮提取物的治疗潜力:抗氧化,抗炎,细胞毒性和分子见解
IF 2.8 Q3 Biochemistry, Genetics and Molecular Biology Pub Date : 2025-12-01 Epub Date: 2025-11-08 DOI: 10.1016/j.jgeb.2025.100611
Nur-Nahar, Md. Ekramul Islam, Mst. Jannatul Mewa, Mst. Shahnaj Parvin
Free radicals contribute to various diseases, while antioxidants, like phenolic compounds and flavonoids, counteract their effects. This study examines the antioxidant, anti-inflammatory, and cytotoxic properties of Xylocarpus granatum bark extracts, emphasizing ethyl acetate fraction (EAF) and the isolated compound from EAF.
The antioxidant constituents like total phenolic and flavonoid contents were quantified and antioxidant activity was evaluated using 2,2-diphenyl-1-picrylhydrazyl (DPPH) radical scavenging assays. The cytotoxic potential of the extracts and the isolated compound was evaluated against brine shrimp and the MCF-7 breast cancer cell line using the MTT assay. Anti-inflammatory effects were evaluated using heat-induced hemolysis and RBC membrane stabilization assays to assess membrane-stabilizing and anti-inflammatory activity. Molecular docking studies were performed using PyRx and discovery studio.
EAF demonstrated the highest total phenolic content (124.56 ± 1.35 mg GAE/g) and total flavonoid content (24.69 ± 0.48 mg QE/g), with superior performance in DPPH assays with IC50 values of 3.84 µg/ml and that of pure compound, (+) catechin was 3.89 µg/ml. Anti-inflammatory effects revealed strong activity, with EAF and pure compound showing inhibition rates comparable to standard drugs like diclofenac-Na. Cytotoxicity, assessed through brine shrimp lethality and MCF-7 breast cancer cell line assays, highlighted EAF’s potent activity (LC50: 24.15 µg/ml) antiproliferative efficacy in a dose-dependent manner. Molecular docking studies confirmed (+) catechin’s dual role as a COX-2/Caspase 9 inhibitor, elucidating its potential mechanisms of action.
These findings underscore the therapeutic potential of Xylocarpus granatum extracts, particularly EAF and the isolated compound, in managing oxidative stress, inflammation, and cancer progression.
自由基会导致各种疾病,而酚类化合物和类黄酮等抗氧化剂则会抵消自由基的影响。本研究主要研究了木皮提取物的抗氧化、抗炎和细胞毒性,重点研究了乙酸乙酯部分(EAF)和从EAF中分离的化合物。测定其抗氧化成分总酚和类黄酮含量,并采用清除2,2-二苯基-1-苦酰肼(DPPH)自由基的方法评价其抗氧化活性。采用MTT法评价了提取物和分离化合物对盐水虾和MCF-7乳腺癌细胞系的细胞毒性。通过热诱导溶血和红细胞膜稳定试验来评估其抗炎作用。使用PyRx和discovery studio进行分子对接研究。EAF总酚含量最高(124.56±1.35 mg GAE/g),总黄酮含量最高(24.69±0.48 mg QE/g), DPPH IC50值为3.84µg/ml,纯化合物(+)儿茶素IC50值为3.89µg/ml。抗炎作用显示出很强的活性,EAF和纯化合物的抑制率与双氯芬酸钠等标准药物相当。通过盐水虾致死性和MCF-7乳腺癌细胞系试验评估细胞毒性,突出了EAF的有效活性(LC50: 24.15µg/ml),并呈剂量依赖性。分子对接研究证实(+)儿茶素作为COX-2/Caspase 9抑制剂的双重作用,阐明了其潜在的作用机制。这些发现强调了肉芽木提取物的治疗潜力,特别是EAF和分离的化合物,在控制氧化应激、炎症和癌症进展方面。
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引用次数: 0
Quercetin-liposomes effectively regulated the Nrf2/Keap1 and NF-κB/P38 MAPK signaling pathways and protected the liver against paracetamol-induced damage 槲皮素脂质体有效调节Nrf2/Keap1和NF-κB/P38 MAPK信号通路,保护肝脏免受扑热息痛引起的损伤
IF 2.8 Q3 Biochemistry, Genetics and Molecular Biology Pub Date : 2025-12-01 Epub Date: 2025-11-22 DOI: 10.1016/j.jgeb.2025.100617
Fatma El Zahraa A. Elkady , Walaa A. Moselhy , Fatma I. Abo El-Ela , Abeer M. Abd El-Hameed , Mohamed I. Zanaty
The prevalence of hepatotoxicity has sharply increased worldwide in recent decades. Our study aimed to enhance quercetin’s effectiveness against paracetamol (PCM)-induced hepatotoxicity using a quercetin liposome nano formulation. The quercetin liposome (QL) nano formula was fabricated by applying the thin-film hydration method. It was examined via dynamic light scattering, confirmed with a transmission electron microscope (TEM), and followed by assessments of drug-loading capacity, encapsulation efficiency (EE%), and Fourier transform infrared (FTIR) spectroscopy. The release features and cell cytotoxicity were also assessed. The in vivo parameters were completed. We effectively synthesized and characterized the quercetin liposome nanoformula with a 501.9 nm particle size and a –22.8 mV zeta potential. TEM imaging showed that quercetin liposomes were spherical. The EE% for the optimized formulation was 77.1 %. FTIR test confirmed the quercetin liposome spectra. Sustained release behavior of about 67.45 % of quercetin was released from liposomes by 24 h. The IC50 value was reduced from 71.32 µg/ml to 51.28 µg/ml for quercetin and quercetin-loaded liposomes. For the in vivo study, quercetin liposome improved all the altered biochemical markers, alleviating the levels of Malondialdehyde (MDA), Nitric oxide (NO), Superoxide dismutase (SOD), and Glutathione peroxidase (GPx), and upregulating Nuclear factor erythroid 2-related factor 2 (Nrf2) with a downregulation of Kelch-like ECH-associated protein 1 (Keap1), Nuclear factor kappa-light-chain-enhancer of activated B cells (NF-κB), and p38 Mitogen-activated protein kinase (P38 MAPK) gene expression that paralleled the histopathological amelioration. Our results suggested that the quercetin liposome nano formulation had potent hepatoprotective activity through ameliorating biochemical indicators, oxidative stress markers, upregulation of anti-apoptotic genes, and improvement in the histopathological index.
近几十年来,肝毒性在世界范围内急剧增加。本研究旨在利用槲皮素脂质体纳米制剂增强槲皮素抗扑热息痛(PCM)诱导的肝毒性。采用薄膜水化法制备槲皮素脂质体(QL)纳米配方。通过动态光散射检测,透射电子显微镜(TEM)确认,随后评估载药量,包封效率(EE%)和傅里叶变换红外光谱(FTIR)。并对其释放特性和细胞毒性进行了评价。完成体内参数测定。我们有效地合成了槲皮素脂质体纳米配方,其粒径为501.9 nm, zeta电位为-22.8 mV。透射电镜显示槲皮素脂质体呈球形。最佳配方的EE%为77.1%。FTIR测试证实槲皮素脂质体光谱。槲皮素和负载槲皮素脂质体的IC50值从71.32µg/ml降至51.28µg/ml。在体内研究中,槲皮素脂体改善了所有改变的生化指标,减轻了丙二醛(MDA)、一氧化氮(NO)、超氧化物歧化酶(SOD)和谷胱甘肽过氧化物酶(GPx)的水平,上调了核因子红细胞2相关因子2 (Nrf2),下调了kelch样ech相关蛋白1 (Keap1)、活化B细胞的核因子kappa轻链增强子(NF-κB)。p38丝裂原活化蛋白激酶(p38 MAPK)基因表达与组织病理改善相似。结果表明,槲皮素脂质体纳米制剂通过改善生化指标、氧化应激标志物、上调抗凋亡基因和改善组织病理学指标,具有较强的保肝活性。
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引用次数: 0
NR5A1 gene variants in infertile Senegalese men: Discovery of a novel missense variant and genotype-phenotype correlation 塞内加尔不育男性NR5A1基因变异:一种新的错义变异和基因型-表型相关性的发现
IF 2.8 Q3 Biochemistry, Genetics and Molecular Biology Pub Date : 2025-12-01 Epub Date: 2025-09-27 DOI: 10.1016/j.jgeb.2025.100578
Adji Dieynaba Diallo , Arame Ndiaye , Ndiaga Diop , Fatou Diop Gueye , Mame Venus Gueye , Yacouba Dia , Amath Thiam , Abdoulaye Séga Diallo , Rokhaya Ndiaye , Oumar Faye , Mama Sy
The NR5A1 gene, encoding Steroidogenic Factor 1 (SF-1), plays a critical role in sex differentiation and spermatogenesis. However, data on NR5A1 variants in sub-Saharan African populations remain limited. This exploratory pilot study aimed to identify and characterize NR5A1 variants in infertile Senegalese men and to assess genotype–phenotype correlations. We conducted a cross-sectional study in 23 infertile Senegalese men, and exons 2 –7 of NR5A1 were sequenced using the Sanger method. Detected variants were analyzed with in silico prediction tools and filtered for rarity (minor allele frequency < 1 %) using the gnomAD database. Genotype–phenotype associations were analyzed using Fisher’s exact test.
Eighty-three percent of patients harbored at least one NR5A1 variant. A novel heterozygous missense variant, c.584C > T (p.Ser195Phe), located in the hinge region of SF-1, was identified in three unrelated individuals presenting with micropenis, testicular hypotrophy, and azoospermia. Several previously described variants were also detected. Genotype–phenotype correlation analysis revealed significant associations between NR5A1 variants and spermatogenic failure, the most common clinical feature (60.8 %). These findings demonstrate substantial genetic variability in NR5A1 among Senegalese men with infertility, and identify a novel missense variant. Our study highlights the relevance of NR5A1 in male infertility screening and emphasizes the importance of incorporating African populations into reproductive genetics research.
编码甾体生成因子1 (SF-1)的NR5A1基因在性别分化和精子发生中起着关键作用。然而,撒哈拉以南非洲人群中NR5A1变异的数据仍然有限。这项探索性初步研究旨在鉴定和表征塞内加尔不育男性的NR5A1变异,并评估基因型-表型相关性。我们对23名塞内加尔不育男性进行了横断面研究,并使用Sanger方法对NR5A1外显子2 -7进行了测序。检测到的变异使用计算机预测工具进行分析,并使用gnomAD数据库过滤罕见度(小等位基因频率<; 1%)。采用Fisher精确检验分析基因型-表型相关性。83%的患者至少携带一种NR5A1变异基因。一种新的杂合错义变异,c.584C > T (p.Ser195Phe),位于SF-1的铰链区域,在三个无亲缘关系的个体中被发现,表现为小阴茎、睾丸萎缩和无精子症。还检测到几个先前描述的变体。基因型-表型相关分析显示,NR5A1变异与最常见的临床特征生精失败(60.8%)之间存在显著关联。这些发现证明了塞内加尔男性不育症患者NR5A1基因的大量遗传变异,并确定了一种新的错义变异。我们的研究强调了NR5A1在男性不育筛查中的相关性,并强调了将非洲人群纳入生殖遗传学研究的重要性。
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引用次数: 0
Profile of GAS6 gene single nucleotide polymorphisms [GAS6 c.834+7G>A (rs8191974), and GAS6 c.1332C>T (rs1803628)] among a cohort of Egyptian women with preeclampsia: Relation to disease risk and severity GAS6基因单核苷酸多态性[GAS6 c.834+7G>A (rs8191974)和GAS6 c.1332C>T (rs1803628)]在埃及先兆子痫妇女队列中:与疾病风险和严重程度的关系
IF 2.8 Q3 Biochemistry, Genetics and Molecular Biology Pub Date : 2025-12-01 Epub Date: 2025-08-26 DOI: 10.1016/j.jgeb.2025.100554
Mostafa Mohamed Khodry , Sawsan M.A. Abuhamdah , Mohammed H. Hassan , Abd El-Naser Abd El-Gaber Ali , Asmaa Ahmed Sayed Khames , Mohammad A.M. Ahmed
This study represents the investigation of the potential link between single nucleotide polymorphisms (SNPs) in the growth arrest-specific 6 (GAS6) gene and preeclampsia (PE) in Egyptian women. Few existing research have explored this association in other populations, prompting this investigation into the relationship between variants of GAS6 SNPs and both the probability and severity of PE. 200 pregnant Egyptian women participated in the study; 100 were normotensive, 50 had mild PE, and 50 had severe PE. RFLP-PCR was used to genotype GAS6 SNPs [NM_000820.4:c.834+7G>A (rs8191974) and NM_000820.4:c.1332C>T (rs1803628)] in patients and controls (mean ages 30.33 ± 7.17 and 27.43 ± 5.14 years, respectively). Key findings included a significantly higher frequency of AA genotype (29 % vs. 7 %; P < 0.001) and A allele (56 % vs. 30 %; P < 0.001, OR = 0.337, 95 % CI = 0.223–0.508) of NM_000820.4:c.834+7G>A in PE patients compared to controls. In contrast, the CC genotype (27 % vs. 4 %; P < 0.001) and wild C allele (59.5 % vs. 49.5 %; P = 0.045, OR = 1.499, 95 % CI = 1.009–2.226) of NM_000820.4:c.1332C>T were also significantly more frequent in PE patients. Within PE cases, severe cases showed a higher frequency of the CC genotype of NM_000820.3:c.1332C > T (38 % vs. 16 % in mild cases; P = 0.009) and C allele (68 % vs. 51 %; P = 0.014, OR = 2.042, 95 % CI = 1.149–3.627). These results indicate an association between PE risk and the A allele and AA genotype of NM_000820.4:c.834+7G>A variants. Within this cohort of Egyptian women, PE development and severity were significantly linked to the presence of the CC genotype and C allele of the NM_000820.4:c.1332C>T variants.
这项研究调查了埃及女性生长抑制特异性6 (GAS6)基因的单核苷酸多态性(snp)与先兆子痫(PE)之间的潜在联系。现有的研究很少在其他人群中探索这种关联,这促使我们研究GAS6 snp变异与PE的概率和严重程度之间的关系。200名埃及孕妇参与了这项研究;100例血压正常,50例轻度PE, 50例重度PE。采用RFLP-PCR对患者和对照组(平均年龄分别为30.33±7.17岁和27.43±5.14岁)的GAS6 snp [NM_000820.4:c.834+7G>A (rs8191974)和NM_000820.4:c.1332C>T (rs1803628)]进行基因分型。主要发现包括与对照组相比,PE患者中AA基因型(29% vs. 7%; P < 0.001)和a等位基因(56% vs. 30%; P < 0.001, OR = 0.337, 95% CI = 0.223-0.508) NM_000820.4:c.834+7G>; a的频率显著高于对照组。相比之下,NM_000820.4: C . 1332cgt;T的CC基因型(27% vs. 4%; P < 0.001)和野生C等位基因(59.5% vs. 49.5%; P = 0.045, OR = 1.499, 95% CI = 1.009-2.226)在PE患者中也明显更常见。在PE病例中,严重病例中CC基因型NM_000820.3:c的频率更高。1332 C在T(38%比16%在温和的情况下;P = 0.009)和C等位基因(68%比51%,P = 0.014 = 2.042, 95% CI = 1.149 - -3.627)。这些结果表明,NM_000820.4:c.834+7G>;A变异的A等位基因和AA基因型与PE风险存在相关性。在这组埃及女性中,PE的发展和严重程度与NM_000820.4: C . 1332c>;T变异的CC基因型和C等位基因的存在显著相关。
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引用次数: 0
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Journal of Genetic Engineering and Biotechnology
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