Human Gene最新文献

{"title":"Role of the TLR4 pathway in the development of chronic suppurative otitis media","authors":"Jagadisha Tavarekere Venkataravanappa ,&nbsp;Venkateswarlu Raavi ,&nbsp;Sharath Balakrishna ,&nbsp;Prasad Kothegala Chendrashekaraiah ,&nbsp;Sridevi Prabhakara Gowda ,&nbsp;Ashok Dhayalan ,&nbsp;Arun Kumar Sreeramulu ,&nbsp;Saraswathi Saraswathi ,&nbsp;Austin Richard Surendranath","doi":"10.1016/j.humgen.2025.201433","DOIUrl":"10.1016/j.humgen.2025.201433","url":null,"abstract":"<div><div>Chronic Suppurative Otitis Media (CSOM) is a debilitating chronic ear condition characterized by inflammation and infection in the middle ear. Recent research has shed light on the crucial role of Toll-Like Receptor 4 (TLR4) in mediating inflammation in CSOM and its association with disease pathogenesis. This review explores the role of the TLR4 pathway in CSOM, encompassing its gene expression, single-nucleotide polymorphisms, and inflammatory cytokines. Additionally, we discussed the role of the TLR4 pathway in other chronic inflammatory diseases, providing insights into potential therapeutic targets. While the involvement of TLR4 in CSOM and related conditions is well-documented, there remain substantial gaps in our knowledge of the underlying molecular mechanisms. This review not only highlights the current state of knowledge but also emphasizes the areas for future research in the field of otology and immunology.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"45 ","pages":"Article 201433"},"PeriodicalIF":0.5,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144212371","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The synergistic effect of HIF-1α, VEGFA and VEGFR2 gene polymorphisms in the pathogenesis of acute myeloid leukemia","authors":"Mayuri Goswami ,&nbsp;Shantipriya Kakati ,&nbsp;Jina Bhattacharyya ,&nbsp;Natasha Kashyap ,&nbsp;Snigdha Jyoti Das ,&nbsp;Mafidul Islam ,&nbsp;Sujoy Bose ,&nbsp;Purabi Deka Bose","doi":"10.1016/j.humgen.2025.201432","DOIUrl":"10.1016/j.humgen.2025.201432","url":null,"abstract":"<div><h3>Objectives</h3><div>This study aims to analyze polymorphisms and the differential mRNA expression of some hypoxia-angiogenesis pathway genes in acute myeloid leukemia (AML) cases and correlate these findings with disease pathogenesis.</div></div><div><h3>Patients and methods</h3><div>The study included 64 de novo AML cases with mean age of 29.45 ± 16.49 years and sex ratio of 1.46:1.00; along with 64 age and sex-matched controls. With specific standardized primers and Taq polymerase enzyme, the targeted genes were amplified using PCR. Further RFLP analysis was done using specific restriction endonuclease enzymes to detect polymorphisms. Semi-quantitative real-time PCR was performed for gene expression studies at mRNA level.</div></div><div><h3>Results</h3><div>Higher prevalence of CT and TT genotypes of HIF-1α rs11549465 SNP, CA and AA genotypes of VEGFA rs699947 SNP and AT and TT genotypes of VEGFR2 rs1870377 SNP were found in cases as compared to control. The co-occurrence of T allele of HIF-1α rs11549465, A allele of VEGFA rs699947 and T allele of VEGFR2 rs1870377 SNPs were found to be common in cases indicating higher risk of the disease. mRNA expression analysis revealed upregulation of HIF-1α, VEGFA and VEGFR2 by 9.92 ± 7.28, 9.05 ± 5.87 and 2.11 ± 0.48 fold respectively in patients. Significant correlation (<em>p</em> &lt; 0.01) was found between the expression of HIF-1α and VEGFA genes. Correlation analysis between genotypes and mRNA expression profiles detected the role of T allele of HIF-1α rs11549465 SNP, A allele of VEGFA rs699947 SNP and AT genotype of VEGFR2 rs1870377 SNP in the overexpression of respective genes.</div></div><div><h3>Conclusion</h3><div>Synergistic association of T allele of HIF-1α rs11549465, A allele of VEGFA rs699947 and AT genotype of VEGFR2 rs1870377 SNPs have been identified that might promote the pathogenesis of AML.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"45 ","pages":"Article 201432"},"PeriodicalIF":0.5,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144184404","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Investigating expression pattern of SPATA3-AS1 and SPATA42 lncRNAs in azoospermia","authors":"Nashwah Jabbar Kadhim Muttwaqi,&nbsp;Mohammed Ismael Ibrahim Jebur,&nbsp;Azeez Hasan Saleh Saleh,&nbsp;Reza Safaralizadeh","doi":"10.1016/j.humgen.2025.201431","DOIUrl":"10.1016/j.humgen.2025.201431","url":null,"abstract":"<div><div>Background: A large number of couples throughout the world struggle with the health problems of male infertility. One of the most common reasons for male infertility is the absence of sperm in the semen specimens, resulting in azoospermia. lncRNAs regulate spermatogenic cell development. However, the aberrant expression of lncRNAs linked to the failure of sperm production and their molecular processes is poorly understood. Materials and Methods: A total of 76 Iranian men with azoospermia and 36 healthy controls were selected in this case-control study. Blood samples were taken to isolate serum and extract total RNA, which was later used to synthesize cDNA. The qRT-PCR technique was assessed to investigate gene expression of SPATA42 and SPATA3-AS1 lncRNAs in azoospermia. Results: Based on the data, SPATA42 and SPATA3-AS1 appeared to have significantly low expression in azoospermia patients; however, only SPATA42 showed a significant biomarker role. Furthermore, hormonal analysis illustrated that LH and FSH had increased levels in male patients; meanwhile, testosterone levels were decreased. According to Spearman correlation analysis, SPATA42 expression correlated negatively with FSH and LH levels but positively with testosterone levels. For the SPATA3-AS1 gene, however, FSH and testosterone had a negative and positive correlation with the expression level. Conclusion: With low expression levels in serum samples, SPATA42 can have a potential biomarker role in diagnosing azoospermia.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"45 ","pages":"Article 201431"},"PeriodicalIF":0.5,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144203171","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Functional and structural characterization of COVID-19 risk-associated exonic SNPs and identification of novel therapeutic sites: An in silico analysis","authors":"Marcos Jessé Abrahão Silva ,&nbsp;Sebastião Kauã de Sousa Bispo ,&nbsp;Rebecca Lobato Marinho ,&nbsp;Eliete Costa da Cruz ,&nbsp;Thiago Pinto Brasil ,&nbsp;Caroliny Soares Silva ,&nbsp;Yan Corrêa Rodrigues ,&nbsp;Cristiane Cunha Frota ,&nbsp;Diana da Costa Lobato ,&nbsp;Lilian Cristina Santos Sinfrônio da Silva ,&nbsp;Everaldina Cordeiro dos Santos ,&nbsp;Ana Judith Pires Garcia ,&nbsp;Luana Nepomuceno Gondim Costa Lima","doi":"10.1016/j.humgen.2025.201426","DOIUrl":"10.1016/j.humgen.2025.201426","url":null,"abstract":"<div><div>The COVID-19 pandemic has highlighted the critical need for effective therapeutic strategies against viral infections, prompting research on the functional characterization of risk-associated single nucleotide polymorphisms (SNPs). This study aimed to analyze exonic SNPs that influence individual susceptibility to COVID-19 through an <em>in silico</em> approach. Using a comprehensive methodology, SNPs were retrieved from databases such as Science Direct and PubMed, categorized into intronic, exonic, UTR, splice site, and intergenic types, with a focus on exonic SNPs. Functional analyses were performed using various bioinformatics tools to assess the effects of synonymous and non-synonymous SNPs on mRNA structure, protein stability, protein function, and potential therapeutic sites. The results revealed significant insights into the impact of specific SNPs on COVID-19 susceptibility. For example, the synonymous SNP rs12252 of <em>IFITM3</em> was found to have a moderate impact on mRNA structure and binding affinity for microRNAs, while non-synonymous SNPs exhibited varying degrees of functional consequences, with eight variants predicted to be deleterious (with emphasis on the <em>TYK2</em> SNP rs34536443 that was predicted to be deleterious in all analyzes). This approach facilitated the identification of novel therapeutic targets. Finally, this research highlights the importance of understanding genetic variations in developing personalized medicine approaches for COVID-19.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"45 ","pages":"Article 201426"},"PeriodicalIF":0.5,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144170675","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Superoxide dismutase gene expression and promoter methylation as biomarkers for type 2 diabetes mellitus","authors":"Ashwin Kumar Shukla ,&nbsp;Komal Awasthi ,&nbsp;Kauser Usman ,&nbsp;Monisha Banerjee","doi":"10.1016/j.humgen.2025.201427","DOIUrl":"10.1016/j.humgen.2025.201427","url":null,"abstract":"<div><h3>Background</h3><div>Type 2 diabetes mellitus (T2DM) is associated with oxidative stress and altered gene expression, particularly the antioxidant defense genes named as <em>SOD1</em> and <em>SOD2</em>. These enzymes serve a significant function in mitigating oxidative damage, and their regulation may be significantly influenced by epigenetic modifications, including DNA methylation.</div></div><div><h3>Objective</h3><div>This study aimed to investigate the promoter methylation status and expression levels of <em>SOD1</em> and <em>SOD2</em> genes in T2DM patients compared to healthy controls, to explore their potential as molecular biomarkers for T2DM.</div></div><div><h3>Methodology</h3><div>A total of 84 T2DM patients and 60 healthy controls were enrolled. Methylation-specific PCR (MSP) was applied to investigate the promoter methylation status of <em>SOD1</em> and <em>SOD2</em> genes, while real-time PCR was utilized to evaluate the expression levels of these genes in whole blood samples. Statistical analyses were performed to compare results between the T2DM group and the control group.</div></div><div><h3>Results</h3><div>The study revealed significant downregulation of both <em>SOD1</em> and <em>SOD2</em> gene expression in T2DM patients compared to controls, with <em>p</em>-values of 0.001 for both genes. Methylation analysis indicated increased promoter methylation of <em>SOD2</em> in T2DM subjects, whereas <em>SOD1</em> did not show any significant difference in the methylation status.</div></div><div><h3>Conclusion</h3><div>Our findings highlighted the critical role of reduced <em>SOD1</em> and <em>SOD2</em> expression in oxidative stress associated with T2DM. Although <em>SOD2</em> downregulation was observed, the lack of significant differences in methylation frequency between patients and controls indicated that it may not serve as a definitive biomarker by itself. Therefore, the potential influence of methylation on <em>SOD2</em> transcription warrants further investigation. Understanding these mechanisms could lead to novel therapeutic strategies targeting oxidative stress in diabetes management and at the same time improve our knowledge regarding the role of epigenetic factors in metabolic diseases.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"45 ","pages":"Article 201427"},"PeriodicalIF":0.5,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144170316","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comprehensive analysis of Slc15a3 and Myo1f gene expression in renal carcinoma: Insights from RNA-seq data and validation via qRT-PCR","authors":"Mahya Nazari ,&nbsp;Seyed Abdolhamid Angaji ,&nbsp;Behnaz Beikzadeh ,&nbsp;Behzad Narouie ,&nbsp;Mahdi Mohammadi","doi":"10.1016/j.humgen.2025.201422","DOIUrl":"10.1016/j.humgen.2025.201422","url":null,"abstract":"<div><h3>Background</h3><div>Early detection of renal cell carcinoma (RCC) remains a challenge. Identification of novel biomarkers may improve the diagnosis, prognosis, and treatment of RCC. This study aimed to identify potential novel biomarkers for RCC by analyzing gene expression profiles by RNA sequencing (RNA-seq) and validating the results by laboratory tests.</div></div><div><h3>Materials and methods</h3><div>Data were retrieved from NCBI GEO datasets. After data processing and analysis, two genes with differential expression in RCC were selected: Slc15a3 and Myo1f. Blood samples were then collected from 26 RCC patients and 24 healthy controls. Following the extraction of RNA and the synthesis of cDNA, real-time polymerase chain reaction (PCR) was conducted. The expression of genes was evaluated and analyzed using GraphPad Prism, with a statistical significance threshold of <em>P</em> &lt; 0.05.</div></div><div><h3>Results</h3><div>In silico analysis and RNA-seq data revealed that Slc15a3 and Myo1f were differentially expressed in RCC. Real-time PCR results showed a significant increase in Myo1f expression in RCC patients (<em>P</em> &lt; 0.05), suggesting its potential as a novel biomarker. However, Slc15a3 did not show significant expression differences between RCC patients and controls (<em>P</em> &gt; 0.05), indicating a limited biomarker potential.</div></div><div><h3>Conclusion</h3><div>This study suggests that Myo1f maybe a promising biomarker for RCC.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"45 ","pages":"Article 201422"},"PeriodicalIF":0.5,"publicationDate":"2025-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144170676","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Roles of microRNAs carried by exosomes in glioblastoma microenvironment","authors":"Ayşe Keskin Günay ,&nbsp;Zeynep Demirel ,&nbsp;Nilay Dinçkurt ,&nbsp;Esranur Kopal ,&nbsp;Pınar Obakan Yerlikaya","doi":"10.1016/j.humgen.2025.201423","DOIUrl":"10.1016/j.humgen.2025.201423","url":null,"abstract":"<div><div>Glioblastoma (GBM) is an extremely aggressive type of glioma affecting the central nervous system (CNS). Patient survival is typically less than one year and decreases with various mutations, deletions, and amplifications. The treatment of GBM is usually challenging since drug candidates that can cross the blood-brain barrier with low side effects are limited. The initial treatment for GBM involves surgical resection, followed by radiotherapy and administration of temozolomide (TMZ) as the primary adjuvant therapy. Following TMZ treatment, most patients experience tumor recurrence due to TMZ resistance within the first year. Given the intratumoral heterogeneity, elucidating the tumor microenvironment (TME) is paramount. Exosomes, a class of extracellular vesicles (EVs) released by cells into TME, are responsible for intercellular communication. The content of exosomes, originating from early endosomes and then from late endosomes, is exceptionally rich in oncogenic proteins, angiogenic factors, coding, and non-coding RNA, such as microRNAs (miRNAs). Exosomal miRNAs are critical in driving GBM pathogenesis. They contribute to disease progression, metastasis, cancer development, angiogenesis, and drug resistance. Additionally, exosomal miRNAs influence the cell migration, proliferation, and differentiation of glioma cells, making them potential biomarkers for diagnosis, prognosis, and therapeutic response prediction. This review discusses exosomal miRNA functions in GBM progression and highlights their potential clinical applications. Also, this review summarizes available databases for identifying exosome-associated miRNAs and exploring their functional roles in GBM.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"45 ","pages":"Article 201423"},"PeriodicalIF":0.5,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144123230","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"High-throughput genomic profiling in chronic myelogenous leukemia: How far have we come, and what lies ahead?","authors":"Laras Pratiwi ,&nbsp;Galih Januar Adytia ,&nbsp;Henry Sutanto","doi":"10.1016/j.humgen.2025.201425","DOIUrl":"10.1016/j.humgen.2025.201425","url":null,"abstract":"<div><div>Chronic Myelogenous Leukemia (CML) is a hematological malignancy characterized by the <em>BCR::ABL1</em> fusion gene, a hallmark of its pathogenesis. Advances in molecular biology and genomic technologies have significantly enhanced our understanding of CML, with Next-Generation Sequencing (NGS) emerging as a potential transformative tool in the field. This review explores the expanding role of NGS in the diagnosis, prognostic stratification, and treatment monitoring of CML. By enabling comprehensive genomic profiling, NGS facilitates the identification of genetic mutations and clonal evolution, offering insights beyond traditional diagnostic methods. Additionally, the application of NGS in detecting treatment-resistant mutations and monitoring minimal residual disease (MRD) underscores its utility in tailoring precision therapies. However, challenges such as technical complexities, integration into clinical workflows, and cost constraints remain barriers to widespread adoption. This review highlights the clinical implications of NGS in CML management and discusses future directions, including emerging sequencing technologies and potential synergies with advanced analytics. As NGS continues to evolve, its role in shaping personalized medicine and improving patient outcomes in CML is becoming increasingly evident. This review provides a comprehensive overview of these developments while addressing the current limitations and opportunities for future research.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"45 ","pages":"Article 201425"},"PeriodicalIF":0.5,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144116522","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A case of Cockayne syndrome with two novel mutations in the ERCC6 gene: Expanding the phenotypic and genetic spectrum","authors":"Xinyao Wang,&nbsp;Lingzhao Min,&nbsp;Jia Wei,&nbsp;Xiaoqiang Wang","doi":"10.1016/j.humgen.2025.201420","DOIUrl":"10.1016/j.humgen.2025.201420","url":null,"abstract":"<div><div>A one-year-old East Asian boy presented with significant growth and developmental delays, including microcephaly, poor motor development, and feeding difficulties. He also exhibited poor visual and auditory tracking, along with occasional vomiting and skin vulnerability to sun exposure. Cranial CT revealed cortical dysplasia and a septum pellucidum cyst. Whole exome sequencing identified three heterozygous mutations in the ERCC6(Excision repair cross-complementation group 6) gene: two novel mutations (c.1557G &gt; A and c.1821 + 1del) inherited from the father and mother, respectively, and a third mutation (c.1820 A &gt; T) with uncertain pathogenicity, also inherited from the mother. The genetic findings led to a diagnosis of Cockayne syndrome, contributing to the expanding knowledge of the ERCC6 gene mutation spectrum and aiding in the clinical diagnosis and genetic counseling for the family. This case underscores the importance of accurate genetic diagnosis in managing prognosis and providing counseling for high-risk families.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"45 ","pages":"Article 201420"},"PeriodicalIF":0.5,"publicationDate":"2025-05-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144203170","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Investigating the effect of Lactobacillus crispatus extract on the expression of Axin2 and GSK3β genes from Wnt pathway in uterine cell line","authors":"Zahra Fazeli ,&nbsp;Farkhondeh Pouresmaeili ,&nbsp;Masoumeh Azimirad ,&nbsp;Armitasadat Emami ,&nbsp;Azadeh Aarabi ,&nbsp;Sunbul Muradi ,&nbsp;Abbas Yadegar ,&nbsp;Seyed Farhad Sadr Tabatabaie","doi":"10.1016/j.humgen.2025.201417","DOIUrl":"10.1016/j.humgen.2025.201417","url":null,"abstract":"<div><h3>Introduction and aim</h3><div>The Wnt1 signaling pathway is recognized for its involvement in cell growth as well as its capacity to trigger apoptosis. A variety of research has underscored the effect of Lactobacillus populations on uterine health, especially in the context of embryo implantation. This study seeks to explore how bacillus extracts affect the expression of Wnt1 genes in the context of recurrent miscarriage, with a particular emphasis on endometrial stem cells (ENSC).</div></div><div><h3>Material and method</h3><div>A preparation of <em>Lactobacillus crispatus</em> extract was created, and the ENSC cell line was grown in specialized media containing different concentrations of the bacterial extract and subjected to various incubation times. Total RNA was isolated from the cultured cells, which was then used to synthesize cDNA. Real-time PCR was performed with specific primer pairs targeting Axin2 and GSK3β, in addition to amplifying a suitable housekeeping gene for uterine tissue. The results were evaluated using SPSS and LinReg software.</div></div><div><h3>Results</h3><div>The application of the crispatus extract to the ENSC cell line led to a notable increase in the expression of Axin2, whereas GSK3β demonstrated a non-significant rise within the Wnt1 pathway (<em>p</em> value = 0.001). It was observed that the bacterial extract displayed a quantifiable level of cytotoxicity at elevated concentrations. The findings revealed that the expression of the Axin2 gene was significantly greater than that of GSK3β (p value = 0.001). No significant changes in gene expression were observed in the untreated ENSC cell lines.</div></div><div><h3>Conclusion</h3><div>A more comprehensive insight into the effects of bacterial extracts on the active genes involved in biochemical pathways within endometrial tissue could aid in the formulation of probiotic approaches and therapies for recurrent miscarriage, as these genes play a significant role in this condition.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"45 ","pages":"Article 201417"},"PeriodicalIF":0.5,"publicationDate":"2025-05-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144139061","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}