Human Gene最新文献

{"title":"A review on the role of miR-576 in human disorders","authors":"Alireza Soleimani ,&nbsp;Mohsen Ahmadi ,&nbsp;Mahla Sanati ,&nbsp;Hadi Adabi ,&nbsp;Soudeh Ghafouri-Fard","doi":"10.1016/j.humgen.2025.201491","DOIUrl":"10.1016/j.humgen.2025.201491","url":null,"abstract":"<div><div>MicroRNAs (miRNAs) have pivotal role in post-transcriptional gene regulation by binding to target mRNAs, resulting in their degradation or translational repression. They contribute to the pathogenesis of several disorders, including cancer, autoimmune conditions and metabolic disorders. Among these non-coding transcripts is miR-576, a miRNA with dual roles in tumorigenesis and significant participation in non-malignant conditions. Through modulation of key cellular processes such as proliferation, apoptosis, migration, and immune responses, this miRNA participates in the pathoetiology of a variety of human disorders. This manuscript aims to comprehensively review the current understanding of miR-576 in malignant and non-malignant disorders, emphasizing its mechanistic roles, clinical implications, and therapeutic potential. By integrating the current knowledge on its role, we offer insights into the dual nature of miR-576 in disease pathogenesis and discover future directions for research and therapeutic development.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"46 ","pages":"Article 201491"},"PeriodicalIF":0.7,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145219617","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":"Integrated in silico and experimental analysis identifies MAGE-A3, TRIM28, and HLA-A as immunomodulatory targets in lung cancer","authors":"Gaurang Telang ,&nbsp;Smriti Mishra ,&nbsp;Anurag Sureshbabu ,&nbsp;Sagar Barage ,&nbsp;A.W. Santhosh Kumar ,&nbsp;Rajshri Singh","doi":"10.1016/j.humgen.2025.201492","DOIUrl":"10.1016/j.humgen.2025.201492","url":null,"abstract":"<div><div>MAGEA3, a cancer-testis antigen selectively expressed in tumors, has been widely explored as a target for cancer immunotherapy, yet its broader immunoregulatory function in the lung tumor microenvironment remains insufficiently characterized. In this study, we conducted an integrative in silico analysis using transcriptomic data from TCGA-LUSC to delineate the expression landscape, immune contexture, and molecular interactions of MAGEA3. Protein–protein interaction networks constructed via STRING and ranked through CytoHubba identified TRIM28 and HLA-A as key co-regulatory molecules, implicating MAGEA3 in transcriptional repression and antigen presentation. TIMER2.0 deconvolution revealed cell-type–specific associations, including differential relationships with CD8⁺ T cells, dendritic cells, and macrophages. Gene-wise survival modeling in TCGA-LUSC indicated MAGEA3 and MAGEA6 associate with reduced overall survival, whereas TRIM28 showed a borderline protective trend. Experimental validation via RT-qPCR in A549 cells confirmed detectable expression of MAGEA3, TRIM28, and HLA-A, reinforcing the computational predictions and highlighting potential cross-histological relevance. Collectively, these findings position MAGEA3 within immunomodulatory circuits of lung cancer and support its consideration in multimodal immunotherapeutic paradigms.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"46 ","pages":"Article 201492"},"PeriodicalIF":0.7,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145219618","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 LEPR gene: A multifaceted regulator of energy homeostasis, obesity pathogenesis, and metabolic health","authors":"Isar Sharma ,&nbsp;Nishutosh ,&nbsp;Kritika Bakshi ,&nbsp;Ritu Mahajan ,&nbsp;Nisha Kapoor","doi":"10.1016/j.humgen.2025.201486","DOIUrl":"10.1016/j.humgen.2025.201486","url":null,"abstract":"<div><h3>Background &amp; Aim</h3><div>This review examines the leptin-LEPR axis and its role in regulating energy balance and obesity. The <em>LEPR</em> gene provides the essential instructions for synthesizing the leptin receptor, a protein of paramount importance within the neuroendocrine system that orchestrates energy balance. Leptin, an adipokine secreted primarily by adipose tissue, functions as a critical signal reflecting the body's energy stores. It modulates appetite and energy expenditure by binding to its cognate receptor, which is predominantly expressed in the hypothalamus.</div></div><div><h3>Materials &amp; methods</h3><div>The authors comprehensively examined a wide range of studies to detail the function of the <em>LEPR</em> gene and the complex intracellular signalling pathways it initiates. The focus was on understanding how dysfunctions, from rare genetic mutations to common acquired leptin resistance, disrupt these homeostatic mechanisms.</div></div><div><h3>Results</h3><div>The review confirms that when leptin binds to its receptor, it initiates a complex cascade of intracellular signalling pathways. These include the Janus kinase 2 (JAK2)/signal transducer and activator of transcription 3 (STAT3) and phosphatidylinositol 3 kinase (PI3K)/Akt pathways. Dysfunction of the leptin-LEPR axis, whether stemming from rare genetic mutations leading to congenital leptin receptor deficiency or the more prevalent acquired leptin resistance observed in common obesity, severely disrupts these intricate homeostatic mechanisms. Such disruptions invariably manifest as profound hyperphagia (excessive hunger) and severe obesity.</div></div><div><h3>Conclusion</h3><div>A comprehensive understanding of the <em>LEPR</em> axis and its intricate signalling networks is therefore fundamental for elucidating the pathophysiology of obesity and for the development of effective therapeutic strategies.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"46 ","pages":"Article 201486"},"PeriodicalIF":0.7,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145157766","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 role of TBXA2R, TGF-β1 and Il-18 gene polymorphisms in the pathogenesis of pollen induced allergic asthma- a case-control study from West Bengal, India","authors":"Priti Mondal ,&nbsp;Indranil Ganai ,&nbsp;Himani Biswas ,&nbsp;Saibal Moitra ,&nbsp;Sanjoy Podder","doi":"10.1016/j.humgen.2025.201485","DOIUrl":"10.1016/j.humgen.2025.201485","url":null,"abstract":"<div><h3>Background</h3><div>Allergic asthma is a chronic inflammatory disease of the respiratory system's conducting airways affecting 330 million people globally and causes intermittent attacks of breathlessness, wheezing, airway hyper-reactivity and coughing when exposed to specific allergens. Thromboxane A2 receptor (TBXA2R), Transforming Growth Factor Beta 1 (TGF-β1) and Interleukin-18 (IL-18) genes are reported to be involved in inflammatory and immune response pathways related to asthma. Based on the above facts it can be hypothesized that single nucleotide polymorphisms (SNPs) in these genes may be associated with the asthma phenotype.</div></div><div><h3>Objectives</h3><div>The present study aims to analyze the role of the TBXA2R rs4523, TGF-β1 rs1800470, IL-18 rs1946519, IL-18 rs1946518 and IL-18 rs549908 gene polymorphism in asthma susceptibility among the population of West Bengal, India.</div></div><div><h3>Results</h3><div>Maximum number of patients showed sensitivity towards <em>Azadirachta indica</em> (73.46 %), followed by <em>Cocos nucifera</em> (72.27 %), <em>Caesalpinia pulcherrima</em> (65.17 %), etc. Significant difference in genotype and allele frequencies was obtained between the study groups for TBXA2R rs4523 and IL-18 rs1946519 polymorphisms. Asthma patients possessed significantly higher frequency of TBXA2R rs4523 CC and IL-18 rs1946519 TT genotypes than controls. TBXA2R rs4523 CC and IL-18 rs1946519 TT genotype bearing patients showed highest intensity of SPT reactions. Patients bearing rs4523 CC and rs1946519 TT genotypes had significantly higher FEV1/FVC ratio, total IgE level and blood Eosinophil count than heterozygous or major genotype bearers.</div></div><div><h3>Conclusion</h3><div>The present study concluded that TBXA2R rs4523 and IL-18 rs1946519 polymorphisms are associated with allergic asthma susceptibility in the population of West Bengal, India.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"46 ","pages":"Article 201485"},"PeriodicalIF":0.7,"publicationDate":"2025-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145157765","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":"Deciphering the risk of missense mutation rs137854486 (W1925R) of FN1 in papillary thyroid cancer: A computational and molecular dynamics approach","authors":"Febby Payva ,&nbsp;Remya James ,&nbsp;Amrisa Pavithra E. ,&nbsp;Padmashree Das ,&nbsp;Santhy K.S.","doi":"10.1016/j.humgen.2025.201484","DOIUrl":"10.1016/j.humgen.2025.201484","url":null,"abstract":"<div><div>Papillary thyroid cancer (PTC) accounts for more than 85 % of all thyroid cancers. Three transcriptomic datasets of PTC, one each from humans (GSE138198), transgenic mice (GSE58689), and cell lines (GSE6339), were analysed for differentially expressed genes (DEGs). Seventy-three common DEGs were binned into significant pathways associated with cancer and immunity, for which gene ontology studies at the biological process, molecular function, and cellular component levels were performed. Protein–protein interaction (PPI) network construction and analysis of modules identified fibronectin 1 (FN1) as the critical hub gene in the pathophysiology of PTC. Survival analysis, immune infiltration analysis, and co-expression analysis of the hub genes were conducted to confirm their relationship with PTC prognosis. Analysis of four missense variants V692E, T817A, T817P and W1925R of FN1 associated with PTC, followed by structural analysis and molecular dynamics simulation, validated that the missense mutation rs137854486 (W1925R) of FN1 is significant in the tumorigenesis of PTC. FoldX predicted a significant positive ΔΔG (9.85646) value for W1925R, portraying substantial destabilization of FN1. The root mean square deviation (RMSD), root mean square fluctuation (RMSF), and radius of gyration (Rg) values of the W1925R mutant indicate significant structural deviations in the protein, resulting in increased flexibility and reduced stability. Increased flexibility, particularly in regions critical for protein function, could affect the biological activity of the protein, with a crucial influence on the pathophysiology of PTC.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"46 ","pages":"Article 201484"},"PeriodicalIF":0.7,"publicationDate":"2025-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145219091","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":"Early-onset nephrolithiasis and persistent microscopic hematuria in a child with a novel pathogenic COL4A5 variant in Alport syndrome: A case report and literature review","authors":"Firoz Ahmad ,&nbsp;Niladri Bose ,&nbsp;Alec Correa ,&nbsp;Sapna Sandal ,&nbsp;Mukesh Kumar ,&nbsp;Akashi Vyas ,&nbsp;Amisha Shah ,&nbsp;Meenu Angi ,&nbsp;Jigar Suthar ,&nbsp;Pooja Chaudhary ,&nbsp;Anindyajit Banerjee ,&nbsp;Spandan Chaudhary ,&nbsp;Neeraj Arora","doi":"10.1016/j.humgen.2025.201483","DOIUrl":"10.1016/j.humgen.2025.201483","url":null,"abstract":"<div><div>A 4-year-old male with persistent microscopic hematuria, hypocalciuria along with hypocitraturia. Renal ultrasound revealed bilateral microcalculi without structural anomalies. Ophthalmic and auditory evaluations were unremarkable. Family history indicated renal disease in the maternal aunt and maternal microscopic hematuria. Whole-exome sequencing (WES) identified a novel hemizygous nonsense variant in <em>COL4A5</em> (NM_033380.3: c.1555C &gt; T; p.Gln519*), truncating the protein at codon 519 of 1770. The variant, inherited from the mildly symptomatic mother (microscopic hematuria, right renal cyst), was absent in population databases and classified as pathogenic based on ACMG criteria (PVS1_Strong, PM2_Supporting, PP1_Supporting, PP4_Supporting). CytoScan 750 K array ruled out copy-number variations. This case expands the genotypic spectrum of Alport syndrome (AS), demonstrating an early presentation with nephrolithiasis, and underscores the diagnostic utility of WES in atypical inherited nephropathies.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"46 ","pages":"Article 201483"},"PeriodicalIF":0.7,"publicationDate":"2025-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145157764","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":"Genomic, transcriptomics, and epigenomic alterations in AREG gene in LUSC and HNSCC","authors":"K. Akshaya Krishnan ,&nbsp;P. Anitha ,&nbsp;J. Vijayashree Priyadharsini ,&nbsp;A. Paramasivam","doi":"10.1016/j.humgen.2025.201477","DOIUrl":"10.1016/j.humgen.2025.201477","url":null,"abstract":"<div><h3>Objectives</h3><div>Cancers of the head and neck region and lungs share similar risk factors. The increased prevalence of these two cancer types underscores the need to identify diagnostic, therapeutic, and prognostic biomarkers for their management. In this context, the present study aims to identify genetic alterations in the <em>AREG</em> gene and their possible association with HNSCC and LUSC.</div></div><div><h3>Methods</h3><div>The study employed a computational design, utilizing the following databases and tools to identify the association between disease phenotypes and genes. The cBioPortal database was used to analyze genetic alterations in the <em>AREG</em> gene across TCGA datasets for HNSCC and LUSC. The survival probability and gene expression profile were analyzed using UALCAN. Welch's test demonstrated the statistical significance between the normal and tumor tissues. The microRNA targets of <em>AREG</em> were assessed using the miRDB.</div></div><div><h3>Results</h3><div>The <em>AREG</em> gene presented with less than 1 % alteration in HNSCC and 4 % in LUSC. Interestingly, a significant upregulation of <em>the AREG</em> gene was observed in HNSCC patients, whereas downregulation was noted in LUSC. The increased gene expression profile correlated well with a poor prognosis in HNSCC patients, while low expression was associated with a good prognosis in LUSC patients. Experimental validation of OSCC samples revealed a decrease in gene expression compared to normal samples. Furthermore, the microRNAs <em>hsa-miR-1185-1</em> and <em>hsa-miR-487b</em> were identified as potential targets of <em>AREG</em>, influencing the survival of patients with HNSCC.</div></div><div><h3>Conclusions</h3><div>The overexpression of <em>AREG</em> in HNSCC, along with its poor prognosis, highlights the oncogenic role played by this gene. Interestingly, the epigenetic component, specifically microRNAs <em>hsa-miR-1185-1</em> and <em>hsa-miR-487b</em>, was found to be downregulated, suggesting their influence on AREG expression. These findings require further validation through functional studies to elucidate the association between AREG and the cancer phenotype.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"46 ","pages":"Article 201477"},"PeriodicalIF":0.7,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145109374","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 novel autosomal dominant variant in TMC1 and rare autosomal recessive variants in GJB2, SLC26A4 caused congenital hearing loss in Vietnamese children","authors":"Phuong Nhung Vu ,&nbsp;Hai Ha Nguyen ,&nbsp;Thi Huyen Thuong Ma ,&nbsp;Thi Bich Ngoc Tran ,&nbsp;Thi Kim Phuong Doan ,&nbsp;Thi Lan Anh Luong ,&nbsp;Tien Truong Dang ,&nbsp;Dang Ton Nguyen","doi":"10.1016/j.humgen.2025.201480","DOIUrl":"10.1016/j.humgen.2025.201480","url":null,"abstract":"<div><h3>Background</h3><div>Hearing loss in children can lead to consequences such as failure in speech, language, education and poor quality of life. This study investigated five Vietnamese families, one with all three children and others with one child suffered from congenital hearing loss to identify genetic cause of the disease.</div></div><div><h3>Methods and results</h3><div>Whole exome sequencing was performed for one proband of each family. Subsequently, Sanger sequencing was used for validation the genetic variants in the patients as well as other family members including parents and siblings. A novel variant in <em>TMC1</em> (c.2209C &gt; T) was detected in the affected child of family 1, which arose as a <em>de novo</em> mutation. In all three affected children of family 2, compound heterozygous variants were detected in <em>SLC26A4</em> (c.754 T &gt; C, c.1229C &gt; T). In the affected children of family 4 and 5, compound heterozygous of <em>GJB2</em> (c.109G &gt; A, c.428G &gt; A) and a homozygous deletion in <em>GJB2</em> (c.235delC) were detected, respectively<em>.</em> In family 3, two genetic variants identified in deafness causing genes <em>MYO7A</em> (c.4795C &gt; T) and <em>MYO15A</em> (c.7547C &gt; T) of the patient in heterozygous state. Sangger sequencing identified only one pathogenic variant in each parent of family 2, 4 and 5. Similarly, existence of double heterozygote in <em>MYO7A</em>/<em>MYO15A</em> was not identified in the parents and remaining unaffected child in family 3.</div></div><div><h3>Conclusions</h3><div>This study contributed to expand genetic variants spectrum in Vietnamese hearing loss pediatrics. Identifying the genetic causes is crucial for early management of hearing loss patients and giving genetic counseling for further pregnancies of high-risk couples.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"46 ","pages":"Article 201480"},"PeriodicalIF":0.7,"publicationDate":"2025-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145109437","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":"Knockdown of histone H1–5 gene affects the sensitivity of MRC-5 and HeLa cells to DNA damaging agents","authors":"Tigran Harutyunyan ,&nbsp;Anzhela Sargsyan ,&nbsp;Gohar Tadevosyan ,&nbsp;Lily Kalashyan ,&nbsp;Rouben Aroutiounian ,&nbsp;Galina Hovhannisyan","doi":"10.1016/j.humgen.2025.201475","DOIUrl":"10.1016/j.humgen.2025.201475","url":null,"abstract":"<div><div>Linker histone H1.5, encoded by the <em>H1–5</em> gene, plays a key role in chromatin compaction and genome stability. However, its role in cellular responses to mutagens is still poorly understood. Here, we analyzed the genotoxic effects of the standard genotoxic drugs doxorubicin (DOX) and mitomycin C (MMC) at non-cytotoxic concentrations after 24 h of treatment in normal lung fibroblasts (MRC-5) and cervical carcinoma cells (HeLa) with <em>H1–5</em> gene knockdown (KD). Using CRISPR-Cas9, we achieved significant repression of <em>H1–5</em> expression. Alkaline DNA comet assay and cytokinesis-block micronucleus assay showed that <em>H1–5</em> KD significantly increased spontaneous and mutagen-induced DNA and chromosome damage levels in both cell lines (<em>p</em> &lt; 0.05). Our results suggest that <em>H1–5</em> gene deficiency makes DNA more susceptible to genotoxic impact while its mechanistic role in occurrence of DNA and chromosome damage requires further elucidation.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"46 ","pages":"Article 201475"},"PeriodicalIF":0.7,"publicationDate":"2025-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145094985","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":"Single-cell transcriptomics exposes an uncharacterized lncRNA governing colorectal cancer metastasis","authors":"Abbas Heydari Lori ,&nbsp;Nahid Askari ,&nbsp;Hossein Pourghadamyari","doi":"10.1016/j.humgen.2025.201479","DOIUrl":"10.1016/j.humgen.2025.201479","url":null,"abstract":"<div><div>Colorectal cancer (CRC) exhibits significant molecular heterogeneity, with long non-coding RNAs (lncRNAs) playing crucial regulatory roles. This study identifies <em>LncRNA01996</em> as a key oncogenic driver upregulated in CRC tumors compared to adjacent normal tissues, with expression levels correlating directly with advancing cancer stage (Stage I to IV). Mechanistically, <em>LncRNA01996</em> stabilizes β-catenin, hyperactivating the Wnt signaling pathway while simultaneously suppressing <em>E-CADHERIN</em> expression a critical factor in maintaining cellular adhesion. This dual action promotes cancer cell invasion and metastasis. Additionally, <em>LncRNA01996</em> transcriptionally activates MYC, amplifying its oncogenic effects.</div><div>Clinically, high <em>LncRNA01996</em> expression is linked to aggressive tumor features, elevated serum markers (CEA, CA19–9), and shorter overall survival in patients. These findings were consistent across patient tissues, cell lines (SW480, SKM), and single-cell RNA sequencing data, confirming its role in diverse CRC microenvironments.</div><div>In summary, <em>LncRNA01996</em> drives CRC progression by dysregulating Wnt/β-catenin signaling, disrupting cell adhesion, and amplifying <em>MYC</em>-driven malignancy. Its strong association with advanced disease and poor outcomes positions <em>LncRNA01996</em> as a promising prognostic biomarker and a compelling therapeutic target for intercepting CRC metastasis.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"46 ","pages":"Article 201479"},"PeriodicalIF":0.7,"publicationDate":"2025-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145094986","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}