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Evaluating the association of CYP17 and SRD5A2 gene polymorphisms with prostate cancer risk: A case-control study in the male population of Jammu, India
IF 0.5
Human Gene Pub Date : 2025-04-01 DOI: 10.1016/j.humgen.2025.201403
Sourabh Sharma , Rahul Gupta , Jyotdeep Kour Raina , Tanishq Kour , Deepu Tiwari , Ravi Sharma , Parvinder Kumar , Rakesh Kumar Panjaliya
{"title":"Evaluating the association of CYP17 and SRD5A2 gene polymorphisms with prostate cancer risk: A case-control study in the male population of Jammu, India","authors":"Sourabh Sharma ,&nbsp;Rahul Gupta ,&nbsp;Jyotdeep Kour Raina ,&nbsp;Tanishq Kour ,&nbsp;Deepu Tiwari ,&nbsp;Ravi Sharma ,&nbsp;Parvinder Kumar ,&nbsp;Rakesh Kumar Panjaliya","doi":"10.1016/j.humgen.2025.201403","DOIUrl":"10.1016/j.humgen.2025.201403","url":null,"abstract":"<div><div>Prostate cancer (CaP) is one of the predominant malignancies affecting the male population, with genetic variations in steroid metabolism pathways potentially modulating disease susceptibility. This case-control investigation examined the potential correlation between CYP-17-<em>Msp</em>A1I and SRD5A2-<em>Rsa</em>I (V89L variant) polymorphisms and CaP risk within the male demographic of the Jammu region in the Jammu &amp; Kashmir Union Territory of India. We genotyped these two polymorphisms in 120 prostate cancer cases and 200 age-matched healthy controls. Statistical analysis revealed a significant association between CYP-17-MspA1I polymorphism and CaP susceptibility, whereas the SRD5A2-RsaI (V89L variant) demonstrated no statistically significant correlation. The co-dominant model (A1A2 vs. A1A1; A2A2 vs. A1A1) and the dominant model (A1A2 + A2A2 vs. A1A1) of CYP-17 exhibited significant association with increased CaP risk. Notably, carriers of the A2 allele of the CYP-17 gene demonstrated a 1.6-fold elevated risk of developing CaP (<em>p</em> = 0.006). These findings contribute to our understanding of genetic susceptibility factors in prostate cancer, suggesting that CYP-17-<em>Msp</em>A1I, but not SRD5A2-<em>Rsa</em>I (V89L variant), may serve as a potential genetic marker for CaP risk assessment in this population. Further large-scale studies across diverse ethnic populations are warranted to validate these findings and elucidate the role of steroid metabolism-related genetic variants in CaP predisposition.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"44 ","pages":"Article 201403"},"PeriodicalIF":0.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143783125","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}
引用次数: 0
Revolutionary advances in hypertension detection: Gold nanoparticle-enhanced miRNA-based electrochemical biosensors and emerging nanotechnologies
IF 0.5
Human Gene Pub Date : 2025-03-21 DOI: 10.1016/j.humgen.2025.201401
Ashikha Shirin Usman P.P., Ameya K.P., Durairaj Sekar
{"title":"Revolutionary advances in hypertension detection: Gold nanoparticle-enhanced miRNA-based electrochemical biosensors and emerging nanotechnologies","authors":"Ashikha Shirin Usman P.P.,&nbsp;Ameya K.P.,&nbsp;Durairaj Sekar","doi":"10.1016/j.humgen.2025.201401","DOIUrl":"10.1016/j.humgen.2025.201401","url":null,"abstract":"<div><div>Hypertension (HTN), a condition affecting over 1.28 billion adults worldwide, is a major contributor to premature mortality, especially in low- and middle-income countries. Despite its global prevalence, HTN often remains undiagnosed, with less than half of the affected population receiving adequate treatment. Early detection is crucial, particularly for different types of hypertensions, including essential hypertension (EH), pulmonary arterial hypertension (PAH), and gestational hypertension such as preeclampsia (PE). MicroRNAs (miRNAs) have emerged as promising biomarkers for HTN diagnosis due to their stability and disease-specific expression profiles. Recent advances in nanotechnology have significantly enhanced miRNA detection through the development of miRNA-based electrochemical biosensors. These biosensors offer high sensitivity and specificity for detecting miRNAs at ultra-low concentrations, making them ideal for point-of-care (POC) diagnostics. The incorporation of nanomaterials such as gold nanoparticles (AuNPs) and graphene has further improved biosensor performance, enhancing conductivity and signal amplification. These innovations have paved the way for non-invasive, rapid, and cost-effective HTN diagnostics, allowing for early intervention and personalized treatment strategies. This review highlights the advancements in miRNA-based electrochemical biosensors, particularly gold nanoparticle based, focusing on their application in HTN diagnosis and the potential to improve patient outcomes. While these biosensors hold great promise, challenges remain in translating them into clinical practice. Standardization, validation, and regulatory approval are key hurdles that require continued research and collaboration among academia, healthcare providers, and industry. Ultimately, miRNA-based electrochemical biosensors represent a transformative tool for the early detection and management of hypertension, contributing to better global health outcomes.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"44 ","pages":"Article 201401"},"PeriodicalIF":0.5,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143681611","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}
引用次数: 0
Unveiling the diversity and potential of STR markers across India - a systematic review
IF 0.5
Human Gene Pub Date : 2025-03-14 DOI: 10.1016/j.humgen.2025.201400
Soupayan Banerjee , Tanurup Das , Gyaneshwer Chaubey , Ankit Srivastava
{"title":"Unveiling the diversity and potential of STR markers across India - a systematic review","authors":"Soupayan Banerjee ,&nbsp;Tanurup Das ,&nbsp;Gyaneshwer Chaubey ,&nbsp;Ankit Srivastava","doi":"10.1016/j.humgen.2025.201400","DOIUrl":"10.1016/j.humgen.2025.201400","url":null,"abstract":"<div><div>This systematic review explores the genetic diversity and potential of Short Tandem Repeat (STR) markers across India. STR markers, characterized by variations in the number of repeated DNA sequences among individuals, are highly informative for distinguishing between individuals and populations. This review synthesizes findings from studies conducted across various Indian states, highlighting unique genetic profiles and population structures. The analysis underscores the importance of incorporating regional genetic data in genetic studies and emphasizes the need for further research to elucidate the complex genetic landscape, which can, in turn, support the development of an indigenous STR marker list specific to India. Several indigenous genetic markers, not included in widely used global databases, have proven to be highly informative in the Indian population. These markers offer valuable insights into genetic diversity and population structure, aiding forensic applications such as individual identification and kinship analysis.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"44 ","pages":"Article 201400"},"PeriodicalIF":0.5,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143629516","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}
引用次数: 0
Molecular architecture of human tooth development: A network-based analysis of gene expression
IF 0.5
Human Gene Pub Date : 2025-03-08 DOI: 10.1016/j.humgen.2025.201398
Amir Taherkhani , Soussan Irani , Amir Najafi , Danesh Baboli
{"title":"Molecular architecture of human tooth development: A network-based analysis of gene expression","authors":"Amir Taherkhani ,&nbsp;Soussan Irani ,&nbsp;Amir Najafi ,&nbsp;Danesh Baboli","doi":"10.1016/j.humgen.2025.201398","DOIUrl":"10.1016/j.humgen.2025.201398","url":null,"abstract":"<div><div>Understanding the molecular mechanisms underlying tooth development is crucial for addressing developmental abnormalities. This study aimed to identify critical genes and pathways involved in human odontogenesis through comprehensive bioinformatic analysis. Gene expression data (GSE48150) comparing human embryonic tooth germs and lip samples were analyzed. Differentially expressed genes (DEGs) were identified using GEO2R (FDR &lt; 0.01, |Log2FC| &gt; 1). Protein-protein interaction networks were constructed using STRING and Cytoscape. Hub genes were identified through centrality metrics, and gene regulatory networks were analyzed using iRegulon. Functional enrichment analysis was performed using g: Profiler. Analysis identified 445 DEGs (138 upregulated, 307 downregulated) in tooth development. Network analysis revealed 21 hub genes, with TTN, PPARG, and MYOD1 showing the highest centrality metrics. The most affected molecular functions included structural constituents of muscle and cytoskeletal protein binding. Several Wnt pathway-interacting genes were identified as differentially expressed. This study revealed novel molecular mechanisms in tooth development, highlighting the unexpected involvement of muscle-related genes and pathways. The identified hub genes and transcription factors provide potential therapeutic targets for developmental dental and lip anomalies and offer new insights into the molecular basis of odontogenesis and development of lips.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"44 ","pages":"Article 201398"},"PeriodicalIF":0.5,"publicationDate":"2025-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143637632","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}
引用次数: 0
RFC and VDR -mediated genetic regulation of brain folate transport in patients with multiple sclerosis
IF 0.5
Human Gene Pub Date : 2025-03-08 DOI: 10.1016/j.humgen.2025.201399
Oleksandra Skavinska , Zoia Rossokha , Liliia Fishchuk , Natalia Gorovenko
{"title":"RFC and VDR -mediated genetic regulation of brain folate transport in patients with multiple sclerosis","authors":"Oleksandra Skavinska ,&nbsp;Zoia Rossokha ,&nbsp;Liliia Fishchuk ,&nbsp;Natalia Gorovenko","doi":"10.1016/j.humgen.2025.201399","DOIUrl":"10.1016/j.humgen.2025.201399","url":null,"abstract":"<div><h3>Background</h3><div>Genes controlling folate metabolism and their transport may become a new therapeutic target in the treatment of multiple sclerosis, as folates play an important role in the regeneration of myelin structures and regulation of methylation processes.</div></div><div><h3>Objective</h3><div>analysis of data on the state of functional activity of the <em>RFC</em> and <em>VDR</em> genes involved in the transport of folates into the brain in patients with multiple sclerosis and their impact on the development and progression of the disease.</div></div><div><h3>Methods</h3><div>An evaluation of modern literary sources devoted to the role of <em>VDR</em> and <em>RFC</em> genes was carried out in folate metabolism in the brain. The search was conducted in Scopus, Web of Science and PubMed databases.</div></div><div><h3>Results</h3><div>RFC plays an important role in the transport of folates, which is essential for neuroprotection in patients with multiple sclerosis. The interaction between VDR and RFC can regulate the expression of folate transporters, which affects the clinical course of the disease. The importance of vitamin D and folate in MS therapy indicates the need for further research to develop new treatment strategies.</div></div><div><h3>Conclusion</h3><div>Further research in this area may help develop new approaches to treating and maintaining the health of patients.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"44 ","pages":"Article 201399"},"PeriodicalIF":0.5,"publicationDate":"2025-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143619620","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}
引用次数: 0
Exploring the role of LINC-ROR in epithelial-mesenchymal transition and its correlation with CD44 and TWIST1 in gastric cancer progression
IF 0.5
Human Gene Pub Date : 2025-03-07 DOI: 10.1016/j.humgen.2025.201394
Reihaneh Alsadat Mahmoudian , Fatemeh Fardi Golyan , Mohammad Mahdi Forghanifard , Mehran Gholamin , Atena Mansouri , Hamid Tanzadehpanah , Mohammad Reza Abbaszadegan
{"title":"Exploring the role of LINC-ROR in epithelial-mesenchymal transition and its correlation with CD44 and TWIST1 in gastric cancer progression","authors":"Reihaneh Alsadat Mahmoudian ,&nbsp;Fatemeh Fardi Golyan ,&nbsp;Mohammad Mahdi Forghanifard ,&nbsp;Mehran Gholamin ,&nbsp;Atena Mansouri ,&nbsp;Hamid Tanzadehpanah ,&nbsp;Mohammad Reza Abbaszadegan","doi":"10.1016/j.humgen.2025.201394","DOIUrl":"10.1016/j.humgen.2025.201394","url":null,"abstract":"<div><h3>Background</h3><div>Gastric cancer (GC) is a leading cause of cancer-related mortality, characterized by its intricate etiology and aggressive nature. The interplay between coding and non-coding RNAs facilitates the identification of protein-protein interaction networks, which are crucial for understanding the prognosis, incidence, diagnosis, and treatment of cancer. This study aims to investigate the clinical significance of co-expression of lncRNA regulator of reprogramming (<em>LINC-ROR</em>), <em>TWIST1</em>, and <em>CD44</em> in GC, offering valuable insights into the disease's pathogenesis and potential therapeutic targets.</div></div><div><h3>Materials and methods</h3><div>Quantitative real-time PCR was employed to compare the expression profiles of <em>LINC-ROR</em>, <em>TWIST1,</em> and <em>CD44</em> in 86 paired tumor and adjacent normal tissue samples obtained from GC patients who underwent curative surgery. The expression levels of <em>LINC-ROR</em>, <em>TWIST1</em>, and <em>CD44</em> were canalyzed to evaluate their co-expression patterns and determine their clinical significance in GC.</div></div><div><h3>Results</h3><div>Our findings demonstrated that the concomitant expression of <em>LINC-ROR</em> and <em>CD44</em> was significantly correlated with lymph node invasion and early tumor stages (I/II) (<em>P</em> &lt; 0.05). Moreover, the co-expression of <em>LINC-ROR</em> and <em>CD44</em> with <em>TWIST1</em> correlated with tumor grade II and stages I/II of tumor progression (<em>P</em> &lt; 0.05). Notably, <em>LINC-ROR</em> was underexpressed in 54.7 % of tumors, while <em>TWIST1</em> and <em>CD44</em> were overexpressed in 53.5 % and 50 % of cases, respectively (<em>P</em> &lt; 0.0001). The dysregulation of these markers was significantly linked to severalclinical factors, including sex, tumor stage, <em>H. pylori</em>, grade, type, and location of tumor (<em>P</em> &lt; 0.05).</div></div><div><h3>Conclusion</h3><div>Our findings emphasize the regulatory role of <em>LINC-ROR</em> in EMT processes and GC progression, highlighting its potential as a biomarker for prognosis and therapeutic targets in GC management. This study  enhances our understanding of the icomplex  molecular interactions that underlie GC pathogenesis.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"44 ","pages":"Article 201394"},"PeriodicalIF":0.5,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143610942","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}
引用次数: 0
Innovative anti-aging strategies targeting WNT pathway epigenetics for gut function
IF 0.5
Human Gene Pub Date : 2025-03-05 DOI: 10.1016/j.humgen.2025.201397
Yumna Khan , Ajay Singh Bisht , Sumel Ashique , Gyas Khan , Md Sadique Hussain
{"title":"Innovative anti-aging strategies targeting WNT pathway epigenetics for gut function","authors":"Yumna Khan ,&nbsp;Ajay Singh Bisht ,&nbsp;Sumel Ashique ,&nbsp;Gyas Khan ,&nbsp;Md Sadique Hussain","doi":"10.1016/j.humgen.2025.201397","DOIUrl":"10.1016/j.humgen.2025.201397","url":null,"abstract":"<div><h3>Objective</h3><div>To explore innovative strategies targeting the Wnt/β-catenin signaling pathway and epigenetics to combat intestinal aging and preserve gut function.</div></div><div><h3>Methods</h3><div>This communication analyzes the role of Wnt signaling in intestinal stem cell (ISC) function, focusing on age-related changes and the interplay with epitranscriptomic modifiers such as YTHDF1 via m6A modifications. Additionally, the therapeutic potential of compounds derived from Traditional Chinese Medicine (TCM), including <em>Eucommia ulmoides</em> and <em>Huankuile</em> suspension, for Wnt pathway regulation is assessed.</div></div><div><h3>Findings</h3><div>Intestinal aging is associated with diminished ISC proliferation and compromised gut homeostasis due to involutional changes in Wnt signaling. YTHDF1 enhances FZD8 expression, reinforcing Wnt signaling and ISC preservation. TCM-derived compounds exhibit promising effects in restoring Wnt signaling activity and maintaining ISC multipotency.</div></div><div><h3>Conclusions</h3><div>Combining modern pharmacological insights with traditional medicine offers a novel, multifaceted approach to addressing intestinal aging by targeting Wnt pathway epigenetics, presenting a promising avenue for improving gut health.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"44 ","pages":"Article 201397"},"PeriodicalIF":0.5,"publicationDate":"2025-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143571477","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}
引用次数: 0
Therapeutic implications of Epirubicin-induced miRNA-22 and miRNA-331 upregulation on cell viability and metastatic potential in triple-negative breast cancer
IF 0.5
Human Gene Pub Date : 2025-02-28 DOI: 10.1016/j.humgen.2025.201396
Somayeh Farahmand , Saber SamadiAfshar , Mahsa Khalili , Reza Haji Hosseini
{"title":"Therapeutic implications of Epirubicin-induced miRNA-22 and miRNA-331 upregulation on cell viability and metastatic potential in triple-negative breast cancer","authors":"Somayeh Farahmand ,&nbsp;Saber SamadiAfshar ,&nbsp;Mahsa Khalili ,&nbsp;Reza Haji Hosseini","doi":"10.1016/j.humgen.2025.201396","DOIUrl":"10.1016/j.humgen.2025.201396","url":null,"abstract":"<div><h3>Background</h3><div>Triple-negative breast cancer (TNBC) represents a significant clinical challenge, with chemoresistance and metastasis remaining major barriers to successful treatment outcomes. This in vitro study aimed to elucidate the molecular mechanisms underlying epirubicin's effects on TNBC through careful examination of miRNA modulation.</div></div><div><h3>Methods</h3><div>Epirubicin's effects on TNBC cells were assessed through MTT assay to determine IC50. miRNA-22 and miRNA-331 expression levels were analyzed using Real-Time PCR. Morphological changes were observed microscopically.</div></div><div><h3>Results and discussion</h3><div>Epirubicin treatment (0–6 μg/mL) demonstrated significant dose-dependent cytotoxicity against MDA-MB-231 cells, with IC50 values decreasing from 2.49 μg/mL at 24 h to 0.145 μg/mL at 48 h. Morphological analysis revealed marked cellular alterations including increased size and elongated phenotype post-treatment. A marked upregulation of miRNA-22 expression was observed post-treatment, implicating its role in metastasis regulation. In contrast, miRNA-331 expression changes were negligible. The observed miRNA-22 upregulation aligns with its reported tumor-suppressive functions in TNBC, suggesting its potential role in mediating epirubicin's therapeutic effects.</div></div><div><h3>Conclusion</h3><div>miRNA-22 is a promising candidate for combination therapies in TNBC. Study limitations include single-cell line use and a narrow focus on two miRNAs. Future research should expand miRNA profiling and evaluate therapeutic potential across diverse TNBC models. Challenges like resistance remain critical to address.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"44 ","pages":"Article 201396"},"PeriodicalIF":0.5,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143551333","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}
引用次数: 0
The complex regulatory landscape of GSDMC and GSDMD mutations in colorectal cancer: A double-edged sword for survival outcomes
IF 0.5
Human Gene Pub Date : 2025-02-22 DOI: 10.1016/j.humgen.2025.201391
Feyzanur Caldiran, Soumaya Menadi, Rümeysa Senol, Ercan Cacan
{"title":"The complex regulatory landscape of GSDMC and GSDMD mutations in colorectal cancer: A double-edged sword for survival outcomes","authors":"Feyzanur Caldiran,&nbsp;Soumaya Menadi,&nbsp;Rümeysa Senol,&nbsp;Ercan Cacan","doi":"10.1016/j.humgen.2025.201391","DOIUrl":"10.1016/j.humgen.2025.201391","url":null,"abstract":"<div><div>Colorectal cancer (COAD) is a major cause of cancer-related mortality, with advancements in treatment offering limited improvements in survival, particularly for advanced cases where the 5-year survival rate remains around 12.5 %. The inherent heterogeneity of COAD necessitates the identification of novel biomarkers to improve prognosis and therapeutic strategies. This study investigates the roles of gasdermin family members GSDMC and GSDMD as potential prognostic biomarkers and therapeutic targets in COAD. We found that GSDMC is consistently upregulated across multiple datasets, particularly in microsatellite instability-high (MSI) tumors, and is associated with poor survival outcomes, suggesting an oncogenic role. In contrast, GSDMD expression is reduced in microsatellite stable (MSS) advanced tumors, implying a role in immune evasion and tumor progression. Notably, mutations in GSDMC and GSDMD were linked to the upregulation of genes such as ARNTL, PRAGD, EFNA5, and GRAMD1B, as well as the downregulation of CDC24, indicating disruptions in pathways related to angiogenesis, vesicle trafficking, cell adhesion, and cell cycle progression. Moreover, high GSDMC expression correlates with increased immune cell infiltration, including macrophages and CD8+ T cells, within the tumor microenvironment, which is crucial for anti-tumor immunity. These findings underscore the potential of targeting GSDMC and, to a lesser extent, GSDMD to modulate the tumor microenvironment and enhance the efficacy of immunotherapies in COAD. This study contributes to the growing understanding of the interaction between gasdermin mutations and the immune microenvironment, offering insights into the development of GSDMD inhibitors as a therapeutic strategy.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"44 ","pages":"Article 201391"},"PeriodicalIF":0.5,"publicationDate":"2025-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143509767","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}
引用次数: 0
Dual high expression of epithelial-mesenchymal transcription factors ZEB1 and ELF3 was inversely correlated with survival of liver cancer patients
IF 0.5
Human Gene Pub Date : 2025-02-22 DOI: 10.1016/j.humgen.2025.201395
İrem Yalim-Camci , Pelin Balcik-Ercin
{"title":"Dual high expression of epithelial-mesenchymal transcription factors ZEB1 and ELF3 was inversely correlated with survival of liver cancer patients","authors":"İrem Yalim-Camci ,&nbsp;Pelin Balcik-Ercin","doi":"10.1016/j.humgen.2025.201395","DOIUrl":"10.1016/j.humgen.2025.201395","url":null,"abstract":"<div><div>Liver cancer represents the sixth most prevalent form of cancer globally, with a markedly elevated mortality rate. Despite advancements in molecular diagnostics and therapies, only a few molecular markers are currently utilized in liver cancer diagnosis and treatment. The epithelial-mesenchymal transition (EMT) is a pivotal process during embryonic development and is also observed in pathological contexts such as cancer progression. Mesenchymal- epithelial transition (MET) represents the reverse process of EMT. Recent studies have demonstrated that cancer cells exhibit heightened aggressiveness when they acquire a hybrid epithelial/mesenchymal phenotype. Major transcription factors regulate EMT and MET processes. This study examined the expression of EMT-inducing transcription factors (ZEB1, TWIST, SNAI1) and MET-inducing transcription factors (GRHL2, ELF3, OVOL1) to gain insight into hybrid epithelial/mesenchymal states in liver cancer. A strong positive correlation was observed between <em>ZEB1</em> and <em>ELF3</em>, as well as <em>SNAI1</em> and <em>GRHL2</em> gene expressions. Protein analyses revealed the highest correlation between ZEB1 and ELF3. Furthermore, high- expression groups of <em>ZEB1</em> and <em>ELF3</em> were associated with significantly lower survival rates compared to low-expression groups. These findings suggest that dual expression of ZEB1 and ELF3 could serve as a potential diagnostic marker in liver cancer.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"44 ","pages":"Article 201395"},"PeriodicalIF":0.5,"publicationDate":"2025-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143534367","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}
引用次数: 0
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