Human Gene最新文献

{"title":"Understanding rare diseases in Saudi Arabia: A systematic review of available evidence","authors":"Dalal Alkathiry ,&nbsp;Mohammed Alabdulaali ,&nbsp;Ghali Sayedahmed ,&nbsp;Anas Almasud ,&nbsp;Nora Althumairi ,&nbsp;Guillaume Favier ,&nbsp;Abdulelah AlGosaibi ,&nbsp;Karam Rachid ,&nbsp;Norah AlMousa ,&nbsp;Haya Intabli ,&nbsp;Mohammed Senitan ,&nbsp;Nawfal Aljerian","doi":"10.1016/j.humgen.2026.201534","DOIUrl":"10.1016/j.humgen.2026.201534","url":null,"abstract":"<div><h3>Introduction</h3><div>Rare diseases (RDs) are a major public health challenge in high-consanguinity regions like Saudi Arabia. Mostly genetic, chronic, and lacking effective treatment, they often face diagnostic delays and limited care. This study systematically reviews the prevalence, genetic risk factors, and healthcare challenges of RDs in Saudi Arabia.</div></div><div><h3>Methods</h3><div>A systematic review was conducted following PRISMA 2020 guidelines. Databases searched included MEDLINE (PubMed), Embase, Web of Science, and Scopus (2014–2024). Eligible studies addressed epidemiology, genetic predisposition, or clinical management of RDs in Saudi Arabia. Extracted data covered study design, sample size, disease type, and findings. Study quality was assessed with the Joanna Briggs Institute (JBI) tool.</div></div><div><h3>Results</h3><div>From 597 records, 25 studies met inclusion. Frequently studied RDs were Duchenne Muscular Dystrophy (DMD), Idiopathic Pulmonary Fibrosis (IPF), Myasthenia Gravis (MG), Granulomatosis with Polyangiitis (GPA), Sickle Cell Disease (SCD), and Spinal Muscular Atrophy (SMA). Across studies, delayed diagnosis, lack of genetic screening, and high economic burden were consistent themes. High consanguinity increased autosomal recessive disorders. Major gaps included limited access to specialized care, advanced therapies, and the absence of a national RD registry.</div></div><div><h3>Conclusions</h3><div>There is urgent need to expand genetic screening, improve diagnostics, and strengthen RD healthcare services in Saudi Arabia. Establishing registries, raising awareness, and developing cost-effective therapies are critical to improving outcomes and reducing disease burden.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"47 ","pages":"Article 201534"},"PeriodicalIF":0.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146173025","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":"Exploring non -coding RNAs contribution to neural tube defects","authors":"Zahraa Isam Jameel","doi":"10.1016/j.humgen.2025.201528","DOIUrl":"10.1016/j.humgen.2025.201528","url":null,"abstract":"<div><div>This review paper covers the diversified role of non-coding RNAs (ncRNAs) in the formation of neural tube defects (NTDs). NTDs are a group of serious birth defects that arise when the neural tube does not close normally during the early embryonic development. Although both genetic and environmental factors are known to cause neural tube defects (NTDs), the role of non-coding RNAs (ncRNAs) in the molecular mechanisms is becoming more evident. In this article, the different kinds of ncRNAs, such as microRNAs (miRNAs), long non-coding RNAs (lncRNAs), and circular RNAs (circRNAs), and their particular roles during neural tube closure will be discussed, focusing on their prospects as therapeutic targets for NTD prevention or treatment. Studies have revealed the role of specific microRNAs, such as members in the miR-17–92 and miR-100 clusters, in the regulation of essential processes, including the proliferation, differentiation, and death of neural precursor cells. The disruption of critical signaling, such as folate metabolism and planar cell polarity, affects these processes. Moreover, there has now become evidence on the role of lncRNAs and circRNAs in the interaction with chromatin-modification complexes, influencing the epigenetic profiles required during neural tube closure, and the regulation of gene expression through the ceRNA action. The developing embryo, whose ncRNA network has the disrupted ncRNA network, has an increased risk of developing the defects in the neural tubes. conclusion, NTD ncRNs represent an important area in the understanding and diagnosis of neural tube defects. The use of ncRNs, particularly some types of microRNs, long ncRNs, and circRNs, has proven that they are far from the “noise” transcribed in the genome. In fact, they play vital roles in the regulation of genes related to the closing of the neural tube. When ncRNs, including some microRNs, long ncRNs, and circRNs, malfunction, they disrupt vital signaling, resulting in an increased risk of the development of NTDs in the embryo. ncRNs link genetic risk and environment, contributing to the increased incidence that was unaccounted for. Future studies, therefore, shall focus on the use of ncRNs in the biomarkers needed in detecting the risk factors and risk of NTDs, the use of long ncRNs and circRNs, and the development of strategies in the prevention of congenital defects.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"47 ","pages":"Article 201528"},"PeriodicalIF":0.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145924589","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":"Mitochondrial ND3, tRNA (Leu) and hypervariable region I: Variants in type II diabetes patients from the central rural Indian population.","authors":"Tejas Tajane ,&nbsp;Mamata Chandrakar ,&nbsp;Prafulla Ambulkar ,&nbsp;Pranita Waghmare ,&nbsp;Bharati Taksande ,&nbsp;Jwalant Waghmare","doi":"10.1016/j.humgen.2025.201520","DOIUrl":"10.1016/j.humgen.2025.201520","url":null,"abstract":"<div><div>Diabetes is a lifestyle disorder with the highest mortality rate, and mitochondria play a crucial role in the susceptibility and severity of diabetes. This study examined the relationship between mitochondrial genomic variants and lifestyle factors in patients with type 2 diabetes (T2D) within a rural central Indian population. We enrolled 156 participants with diabetes and 108 healthy participants, analysing their anthropometric measurements, lifestyle habits, and mitochondrial DNA (mtDNA) variants. A total of 74 variants were identified, with the D-loop region showing the highest mutation rates. When correlated with BMI, waist-to-hip ratio, and sedentary behaviour, these factors were significantly higher in the diabetes group than in the control group. The variants A10398G and C10400T in ND3 and C16223T in the D-loop were significantly associated with T2D, while T16093C and A3384G were more common in healthy controls, indicating a protective role. Analysing haplogroups revealed that the M haplogroup was the most prevalent, followed by U and H, with H being significantly more common in the healthy group. Additionally, lifestyle factors such as a high-carbohydrate diet and tobacco use contributed to disease progression. This study underscores that certain novel variants are linked to decreased susceptibility to T2D and highlights the complex interaction between mtDNA variants, lifestyle factors, and T2D in the Indian population.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"47 ","pages":"Article 201520"},"PeriodicalIF":0.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145681723","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":"Association of DVWA (rs7639618) gene polymorphisms with knee osteoarthritis susceptibility: An updated systematic review and meta-analysis","authors":"Annamalai R ,&nbsp;Venkatramanaiah C ,&nbsp;Marimuthu Raja ,&nbsp;Santhosh Kumar Yasam ,&nbsp;Sujhithra A ,&nbsp;Catherine Rexy ,&nbsp;Vignesh Narasimman ,&nbsp;D. Danis Vijay","doi":"10.1016/j.humgen.2025.201519","DOIUrl":"10.1016/j.humgen.2025.201519","url":null,"abstract":"<div><h3>Background &amp; aim</h3><div>Knee osteoarthritis (KOA)<span><span>¹</span></span> is a common degenerative joint disease characterized by progressive cartilage breakdown that leads to pain and reduced mobility. Although genetic predisposition including the double von Willebrand factor A (DVWA; rs7639618) gene polymorphism has been implicated in KOA, previous case–control studies have reported inconsistent findings. This updated meta-analysis aims to clarify the association between the DVWA (rs7639618) gene polymorphism and KOA susceptibility.</div></div><div><h3>Materials &amp; methods</h3><div>A systematic search was performed in Pub Med, Web of Science, Science Direct, and Google Scholar for case–control studies published up to June 2025. Eligible studies reported genotype and allele distributions for rs7639618 in KOA cases and controls. Study quality was assessed using the Newcastle–Ottawa Scale (NOS).<span><span>²</span></span> Odds ratios (ORs)<span><span>³</span></span> with 95 % confidence intervals (CIs)<span><span>⁴</span></span> were calculated under allele, recessive, dominant, and over-dominant models. Heterogeneity was evaluated using the Q test and I² statistic, and random- or fixed-effects models were applied accordingly. Subgroup analyses were conducted by ethnicity, and publication bias was assessed with funnel plots and Egger's test. Sensitivity analysis was carried out by excluding each study.</div></div><div><h3>Results</h3><div>Thirteen studies comprising 7110 KOA cases and 6931 controls were included. Pooled analyses across all genetic models showed no statistically significant association between rs7639618 and KOA susceptibility. For the allele contrast model, the overall OR was 1.03 (95 % CI: 0.90–1.19); for the recessive model, OR was 1.06 (95 % CI: 0.90–1.25); for the dominant model, OR was 1.08 (95 % CI: 0.85–1.38); and for the over-dominant model, OR was 0.98 (95 % CI: 0.91–1.05). Subgroup analyses revealed no increased risk in either Asian or Caucasian populations. Sensitivity analysis confirmed the stability of the results, and no significant publication bias was detected.</div></div><div><h3>Conclusion</h3><div>The findings of this meta-analysis suggest that the DVWA (rs7639618) polymorphism is not significantly associated with KOA susceptibility in the overall population or within specific ethnic groups. Despite the rigorous methodology and comprehensive analysis, the presence of substantial heterogeneity in some genetic models underscores the need for further well-designed, large-scale studies across diverse populations.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"47 ","pages":"Article 201519"},"PeriodicalIF":0.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145681724","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":"Identification of key players in drug resistant colon cancer - An integrative network pharmacology approach","authors":"Jeevitha Priya Manoharan ,&nbsp;Neha Saravanakumar ,&nbsp;Hema Palanisamy ,&nbsp;Subramanian Vidyalakshmi","doi":"10.1016/j.humgen.2025.201521","DOIUrl":"10.1016/j.humgen.2025.201521","url":null,"abstract":"<div><div>Multi Drug Resistance (MDR) of cancer cells is the most important cause for the failure of chemotherapy in treating cancer patients. Hence, identification of appropriate drug resistance biomarkers is the need of the hour to optimize treatment regimen. The goal of this study is to identify critical genes and pathways that could be used to predict the drug resistance in colon cancer patients. In this study, gene expression datasets of colon cancer patients and cell lines treated with 5-fluorouracil, irinotecan and oxaliplatin were obtained. Differential gene expression analysis was performed and the hub genes associated with drug resistance were identified through network analysis. The functional and pathway enrichment of the genes were performed. ABCC4, AKR1C3, CASP3, CASP4, IFITM1, IFITM2, IFITM3, IFI6, IFI44, IFI16, IFI27 and SLC1A7 were found to be highly interacting (Hub) genes in the network analysis. Two significant modules were predicted in the generated network by module analysis. The genes of module 2 were observed to be highly interacting with each other in the pathway cross talk analysis. Among the identified genes, IFI44 was significantly associated with the patients' overall survival. In addition, IFI44 found to be associated with immune infiltration in the tumor microenvironment. In addition, B-cell receptor signalling pathway, galactose metabolism, steroid hormone biosynthesis and folate biosynthesis pathway can be targeted for improving the efficacy of chemotherapeutic drugs, while treating multidrug resistant colon cancer. Hence, IFI44 could be used as a biomarker for identifying drug resistance. Further, experimental studies are required to validate our findings.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"47 ","pages":"Article 201521"},"PeriodicalIF":0.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145681654","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":"Exploring Parkinson's disease: Insights from genetic biomarkers and protein-protein interactions","authors":"Zahra Parani ,&nbsp;Yeganeh Sorayaei ,&nbsp;Mohammad Shokrzadeh ,&nbsp;Nargess Abdali ,&nbsp;Elham Rismani","doi":"10.1016/j.humgen.2025.201523","DOIUrl":"10.1016/j.humgen.2025.201523","url":null,"abstract":"<div><div>Parkinson's disease (PD) ranks as the second most prevalent neurodegenerative disorder, primarily characterized by motor dysfunction resulting from the degeneration of dopaminergic neurons. Early and accurate diagnosis is crucial for effective treatment; however, the overlap of symptoms with other disorders frequently results in misdiagnosis. This study aims to identify reliable biomarkers for the early PD diagnosis through a comprehensive literature review and bioinformatics analysis. We initially identified 32 genes strongly associated with PD, from published studies and database annotations. Further bioinformatics validation using protein-protein interaction networks and external gene expression datasets revealed additional candidate genes, including GBA1 and LRRK2, which are relevant to both familial and sporadic forms of PD. Enrichment analyses of these genes, emphasizing pathways related to mitochondrial function, autophagy and neurodegeneration-related pathways. Our findings highlight the promise of genetic biomarkers in improving diagnostic precision and guiding therapeutic approaches, thereby enhancing clinical outcomes for patients with PD. Ongoing validation of these results is essential for integrating biomarkers into standard clinical practice, with the ultimate goal of revolutionizing the diagnosis and management of PD.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"47 ","pages":"Article 201523"},"PeriodicalIF":0.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145736910","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":"Connection between epithelial-mesenchymal transition and cancer stem cells and the potential therapeutic strategies","authors":"Jingxuan Xu ,&nbsp;Jiaxin Geng ,&nbsp;Jingyuan Ma ,&nbsp;Yaofan Lu ,&nbsp;Fuyuan Ma ,&nbsp;Yuan Qin ,&nbsp;Biao Huang","doi":"10.1016/j.humgen.2025.201524","DOIUrl":"10.1016/j.humgen.2025.201524","url":null,"abstract":"<div><div>Cancer prevalence is on the rise globally. Early detection, targeted treatments, immunotherapies, and routine chemotherapies are vital for cancer management and patient survival extension, yet complete cancer eradication remains a significant challenge. The epithelial-to-mesenchymal transition (EMT) and cancer stem cells (CSCs) are central to cancer cell metastasis, apoptosis resistance, tumor relapse, and drug resistance. This review focuses on the molecular mechanisms of EMT and CSCs, their interdependencies, the implicated signaling cascades, and the function of microRNA (miRNA) in EMT and CSC initiation regulation. EMT can endow cancer cells with mesenchymal characteristics and the capacity to transition into a CSC state; notably, CSCs can also reinforce EMT progression through secreting cytokines like transforming growth factor-β (TGF-β), forming a reciprocal regulatory loop that sustains tumor aggressiveness. These processes are intricately linked to the TGF-β, Wnt, and Notch signaling pathways, as well as miRNA expression. Advancing cancer treatment modalities and pinpointing novel therapeutic targets necessitate deeper exploration of the EMT-CSC connection. Consequently, crafting therapeutic approaches that target EMT or CSCs holds promise for enhancing cancer treatment efficacy.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"47 ","pages":"Article 201524"},"PeriodicalIF":0.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145736911","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":"Low GOPC mRNA expression is a novel candidate associated with increased risk of acute myeloid leukemia","authors":"Taisir A. Kadhim ,&nbsp;Randa R. Ghamyes ,&nbsp;Dhay A. Azeez ,&nbsp;Mustafa A. Bashi ,&nbsp;Ali A. Alsodani ,&nbsp;Mohammed K. Al-Qayyim ,&nbsp;Noor T. Kadhim ,&nbsp;Rawan A. Nijeeb ,&nbsp;Dhuha F.N. Bani-Wais ,&nbsp;Ali H. Ad'hiah","doi":"10.1016/j.humgen.2025.201516","DOIUrl":"10.1016/j.humgen.2025.201516","url":null,"abstract":"<div><div>Acute myeloid leukemia (AML) is a genetically heterogeneous malignant hematopoietic disorder, and research continues to update its genetic drivers. Golgi-associated PDZ and coiled-coil motif-containing (GOPC) is a signaling protein implicated in regulating cellular trafficking of transmembrane proteins. Recent research has shown that the gene encoding GOPC exhibits dysregulated expression in colorectal cancer. In AML, the significance of <em>GOPC</em> expression in disease risk and pathogenesis has not been explored. Therefore, a case-control study was conducted to evaluate <em>GOPC</em> mRNA expression in a cohort of 100 AML patients and 100 controls. <em>GOPC</em> expression was quantified using a reverse transcription-quantitative PCR-based fold change method (2^–ΔCt). Statistical data management included receiver-operating characteristic (ROC) curve analysis, disease-risk assessment, and assessment of correlation with AML characteristics. Results revealed that <em>GOPC</em> expression levels (median [interquartile range: 25–75 %]) were significantly decreased in patients compared to controls (0.04 [0.02–0.14] vs. 0.73 [0.18–1.16]; probability &lt;0.001). ROC curve analysis demonstrated the reliability of <em>GOPC</em> expression in distinguishing between AML patients and controls (area under the curve = 0.91; probability &lt;0.001). Disease-risk assessment indicated that low <em>GOPC</em> expression was linked to a 16.15-fold increased risk of AML. <em>GOPC</em> expression was not affected by clinical and genetic characteristics of AML or chemotherapy and was not correlated with diagnostic laboratory criteria<em>.</em> In conclusion, <em>GOPC</em> mRNA expression was down-regulated in AML and was not affected by the patient's clinical, genetic, or laboratory characteristics. Low <em>GOPC</em> expression may be considered a potential risk factor for AML.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"47 ","pages":"Article 201516"},"PeriodicalIF":0.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145616454","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":"Upregulation of long non-coding RNA LINC01614 in breast cancer and its association with clinicopathological features","authors":"Mohammad Reza Forouzesh Kia ,&nbsp;Hajar Yaghoobi ,&nbsp;Nooshafarin Shirani ,&nbsp;Reza Eshraghi Samani","doi":"10.1016/j.humgen.2025.201501","DOIUrl":"10.1016/j.humgen.2025.201501","url":null,"abstract":"<div><div>Epigenetic factors, such as regulatory RNAs, are among the most important drivers of breast cancer. Many of these non-coding RNAs are long non-coding RNAs (lncRNAs). Research has shown that numerous lncRNAs play a significant role in the development of breast cancer and can be categorized as either oncogenic or tumor suppressor. This study aims to identify the candidate lncRNAs relevant to breast cancer through bioinformatics studies and then investigate changes in their expression levels, specifically focusing on LINC01614 lncRNAs, in cancerous tissues in comparison to adjacent noncancerous tissues.</div></div><div><h3>Method</h3><div>In this study, gene expression data for 12,727 long non-coding RNAs (lncRNAs) were analyzed, consisting of 837 breast cancer samples and 105 normal samples, using the TANRIC database. To explore the potential biological functions of selective lncRNA, we identified its top 50 co-expressed genes using the lncHUB platform. This list of genes was subsequently subjected to comprehensive enrichment analysis, using the Enrichment Analysis Visualizer Appyter. Post-surgery patient samples were collected, and RNA was isolated and converted to cDNA for real-time quantitative PCR (RT-qPCR) to evaluate gene expression levels. Graph Pad Prism was employed for statistical evaluation of the data.</div></div><div><h3>Result and discussion</h3><div>Differential expression analysis revealed 64 lncRNAs, with LINC01614 showing the highest up-regulation (logFC of 2.34). Functional enrichment analysis of co-expressed genes revealed strong associations with key oncogenic pathways, including extracellular matrix organization, PI3K-AKT-mTOR signaling, and immune response processes. The analysis of long non-coding RNA LINC01614 indicated a significant 6.5-fold increase in cancer samples compared to normal tissues, suggesting its role in breast cancer development. Expression levels varied by tumor grade, with higher levels observed in grades 1 and 2 compared to grade 3, indicating its potential significance in tumor development. The study also explored the relationship between LINC01614 expression and PR-receptor status.</div></div><div><h3>Conclusion</h3><div>This study reveals the multifunctional role of LINC01614 in breast cancer pathogenesis. Its significant overexpression and involvement in diverse oncogenic processes highlight its potential as both a novel diagnostic biomarker and a promising therapeutic target. Further investigations are warranted to elucidate its precise mechanisms and clinical applicability.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"47 ","pages":"Article 201501"},"PeriodicalIF":0.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145681726","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":"Facilitation of STK19 in transcription coupled nuclear excision repair (TC-NER): Mechanisms, interactions, and genome stability","authors":"Sohom Naskar ,&nbsp;Nitika Mahajan ,&nbsp;Nawaneetan Sriraman ,&nbsp;Ankita Sarkar ,&nbsp;Koustav Sarkar","doi":"10.1016/j.humgen.2026.201537","DOIUrl":"10.1016/j.humgen.2026.201537","url":null,"abstract":"<div><div>To operate correctly and prevent illnesses like cancer and aging-related problems, cells must preserve their DNA safety. Stalled gene expression and genomic instability are only two of the major issues RNA polymerase II (RNAPII) can create when it gets stuck on damaged DNA during transcription. Cells employ Transcription-Coupled Nucleotide Excision Repair (TC-NER), a unique repair mechanism that eliminates these barriers and restores normal transcription, to resolve this. Although major TC-NER factors like CSA, CSB, and UVSSA have been researched for decades, recent studies show STK19 to be a significant participant in this mechanism STK19 prevents long-term transcription blockages by marking stalled RNAPII for removal, brings in repair proteins like TFIIH and UVSSA to guarantee efficient DNA repair, and stabilizes the repair complex to make the process more effective and seamless. Without STK19, RNAPII stays stuck, repair slows down, and transcription struggles to restart. This paper discusses in detail about TC-NER mechanism and combines recent findings to demonstrate how STK19 facilitates TC-NER, therefore enabling cells to recover from DNA damage. Knowing STK19's function could open ways for therapies for conditions connected to defective DNA repair, including Cockayne Syndrome and cancer. Investigating STK19's role helps us to better understand how cells guard their genetic material, hence guaranteeing healthy aging and consistent gene expression.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"47 ","pages":"Article 201537"},"PeriodicalIF":0.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146173020","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}