Human Gene最新文献

{"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}

{"title":"Computational analysis of missense variants in MT-ND1 and MT-CO2 associated with breast cancer: A functional and structural impact","authors":"Rhuthuparna Malayil ,&nbsp;Anjana Munshi ,&nbsp;Sandeep Singh","doi":"10.1016/j.humgen.2025.201513","DOIUrl":"10.1016/j.humgen.2025.201513","url":null,"abstract":"<div><div>This study explores the impact of genetic variations in two mitochondrial genes, MT-ND1 and MT-CO2 on breast cancer development. Through sequence- and structure-based bioinformatics analysis, an mt.7830 G &gt; A (CGC &gt; CAC) mutation in the MT-CO2 gene was identified in a 60-year-old woman as the most deleterious. This mutation leads to the substitution of a conserved arginine (R82) with histidine, potentially disrupting COX2 function. Publicly available databases highlight that arginine is the most frequently mutated amino acid in human cancers, with codons CGC, CGG, and CGT being the primary sites of substitution. The mt.7830 G &gt; A mutation impairs oxidative phosphorylation (OXPHOS), potentially increasing reactive oxygen species (ROS) production and contributing to disease progression. Additionally, a potential genotoxic influence of arsenic on mitochondrial function cannot be excluded. The variant rs878897170 was identified in a single case. The results are best viewed as preliminary observations and confirmation in larger cohorts and experimental validation are essential to authenticate the findings of the current study.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"47 ","pages":"Article 201513"},"PeriodicalIF":0.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145571143","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":"Promoter methylation signature of SLC16A11 gene reavels poor prognosis in head and neck squamous cell carcinoma","authors":"Sonali Awasthi ,&nbsp;Tejulal Prasad Chaurasia ,&nbsp;Narendra Verma ,&nbsp;Satakshi Chaturvedi ,&nbsp;Anuradha Kalani ,&nbsp;Sudhir Kumar Awasthi ,&nbsp;Pramod K. Yadav ,&nbsp;Abhijeet Singh ,&nbsp;Gyanendra Singh ,&nbsp;Rajeev Mishra","doi":"10.1016/j.humgen.2025.201525","DOIUrl":"10.1016/j.humgen.2025.201525","url":null,"abstract":"<div><div>Solute carrier (SLC) transporters, which are essential for transporting various metabolites such as carbohydrates, proteins, lipids, and nucleic acids, are often altered in tumor cells to meet their high energy demands. Given the critical role of the SLC transporters in driving metabolism these transporters represent a promising target for cancer therapies and the development of biomarkers to track tumor development and progression. The SLC gene family comprises 14 members, designated SLC16A1 to SLC16A14, which have been implicated in various types of cancer. Their diverse expression patterns are often associated with a poor prognosis across multiple cancers. However, the prognostic significance and mechanisms of the distinct members of the SLC16A gene family in human head and neck squamous cell carcinoma (HNSC) remain unclear. In this study, we explored the SLC16A family members in HNSC using various online genomic databases, including GEPIA2 and TIMER2, to assess the prognostic significance of SLC16A11. Our findings revealed that the expression of the SLC16A11 gene was significantly lower in HNSC tissues compared to normal tissues. We identified that hyper-methylation of the SLC16A11 promoter was associated with decreased expression levels and a poor prognosis in HNSCC, likely due to increased immune infiltration of various immune cells. This study emphasizes the potential of SLC16A11 as a prognostic marker for head and neck squamous cell carcinoma (HNSC) and identifies it as an epigenetically regulated tumor suppressor gene. Overall our research highlights need for further investigation into SLC16A11 as a key metabolic transporter and its potential application in HNSC therapeutics.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"47 ","pages":"Article 201525"},"PeriodicalIF":0.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145790125","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":"Study of the association between MAO-B and 5-HTTLPR polymorphism involved in serotonergic system with unsafe behaviors and personality traits","authors":"Zahra Alizadeh ,&nbsp;Forough Shams ,&nbsp;Vafa Feyzi ,&nbsp;Ali Alboghobeish ,&nbsp;Mostafa Pouyakian","doi":"10.1016/j.humgen.2025.201511","DOIUrl":"10.1016/j.humgen.2025.201511","url":null,"abstract":"<div><h3>Background</h3><div>Unsafe behaviors are believed to be related to genetic differences of people. The present study aimed to the relationship between unsafe behaviors and personality traits with the polymorphism of the genes involved in serotonergic system.</div></div><div><h3>Methods</h3><div>Safety behavior sampling technique, the short form of NEO-five factor inventory (NEO-FFI) and demographic information questionnaire were respectively used. Blood samples were collected for genotyping of the serotonin transporter gene <em>5-HTTLPR</em> and <em>MAO-B</em> polymorphisms.</div></div><div><h3>Result</h3><div>Participants getting high scores in neuroticism and low scores in agreeableness and those possessing 5-<em>HTTLPR</em> SS and LL genotypes, as well as the X_AY genotype of <em>MAO-B</em> A644G polymorphism, were more involved in unsafe behaviors. There was a significant association between <em>5-HTTLPR</em> polymorphism in serotonin transporter of LS and SS genotype and MAO-B polymorphism in <em>MAO-B</em> A644G gene of X_GY genotype is higher compared to the other unsafe behaviors. However, those with 5-<em>HTTLPR</em> LS genotype, as well as the X_GY genotype of <em>MAO-B</em> A644G polymorphism, achieved a great score regarding agreeableness.</div></div><div><h3>Conclusion</h3><div>Due to the role of hereditary differences in individuals' tendency to unsafe behaviors, the results of the present study can be considered in job design wherever the ethics code allows.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"47 ","pages":"Article 201511"},"PeriodicalIF":0.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145532402","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 comprehensive identification and annotation of mobile LINE-1 retrotransposons across human reference and personal genomes","authors":"Adriano Ferrasa ,&nbsp;Roberto Hirochi Herai","doi":"10.1016/j.humgen.2026.201529","DOIUrl":"10.1016/j.humgen.2026.201529","url":null,"abstract":"<div><div>LINE-1 (L1) is a type of mobile genetic element (retrotransposon) that can self-copy into distinct parts of its host genome by dynamically shaping its content. In humans, misregulation of these elements has been associated as the potential cause of distinct types of pathologies and neurodevelopmental disorders, including cancer, Rett syndrome and Aicardi-Goutières syndrome. However, the precise genomic annotation of these 6 kb long nucleotide sequences is a challenging task due to the high similarity between their internal regions (coding and non-coding) for distinct L1 families. Current L1 reference annotations, such as those derived from RepeatMasker, still lack sequence details and also provide confounding annotated information, that includes thousands of incomplete L1 sequences annotated as representative full-length, and missing information on their regulatory and coding regions (5’UTR, ORF1, Spacer, ORF2 and 3’UTR). Additionally, current L1 resources also provide annotations based on consensus reference genomes and do not include individual genome information at allele-level and nucleotide-level resolution. Here, we present L1Farm as a complementary database and annotation resource that contains a comprehensive analysis and annotation of L1 subfamilies – performed in the human reference genome (build Hg38) and in two individual Asian and Caucasian genomes - at allele-level and nucleotide-level resolution. L1 element sequences were annotated with genomic <em>loci</em> and ranked by their full-length content and sequence similarity.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"47 ","pages":"Article 201529"},"PeriodicalIF":0.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146173023","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 rs10414846, rs10421768, rs855791 and rs4820268 polymorphisms in iron-regulatory genes among Malaysian young adults","authors":"Jin-Rou Liew ,&nbsp;Sing-Yan Looi ,&nbsp;Keat-Wei Loo ,&nbsp;Lai-Kuan Teh","doi":"10.1016/j.humgen.2025.201526","DOIUrl":"10.1016/j.humgen.2025.201526","url":null,"abstract":"<div><div>Genetic variants involved in iron-regulatory pathways are important determinants of individual susceptibility to iron deficiency or anaemia. Genetic determinants including the hepcidin antimicrobial peptide (<em>HAMP</em>) and transmembrane serine protease 6 (<em>TMPRSS6</em>) genes play crucial roles in systemic iron regulation. This study investigated the relationship of four single nucleotide polymorphisms (SNPs) [<em>HAMP</em> rs10414846 (C &gt; T), <em>HAMP</em> rs10421768 (A &gt; G), <em>TMPRSS6</em> rs855791 (A &gt; G) and <em>TMPRSS6</em> rs4820268 (G &gt; A)] with haemoglobin (Hb), plasma hepcidin and serum iron levels among Malaysian young adults. A total of 183 unrelated participants aged 18 to 35 years were recruited. Genotyping was conducted using tetra-primer amplification refractory mutation system-polymerase chain reaction (Tetra-ARMS-PCR). Plasma hepcidin concentration and serum iron levels were detected using a human hepcidin ELISA kit and an iron colorimetric assay, respectively. Statistical analyses were performed with the Kruskal-Wallis and Mann-Whitney <em>U</em> tests, followed by general linear model (GLM) adjustments for covariates. Gene-gene interactions were analysed using the Pearson Chi-square (χ²) test. A significant difference was observed between <em>TMPRSS6</em> rs855791 and plasma hepcidin concentration after adjustment (<em>p</em> = 0.039), where G allele carriers exhibited lower hepcidin concentration compared with AA homozygotes. No significant differences were observed for the other polymorphisms. Linkage disequilibrium (LD) analysis revealed strong intragenic correlations within <em>HAMP</em> and <em>TMPRSS6</em>, but no intergenic association. These findings highlighted <em>TMPRSS6</em>'s regulatory role in iron homeostasis. This study provides the first population-specific evidence among Malaysian young adults, offering baseline genetic data to support future large-scale and personalised anaemia research.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"47 ","pages":"Article 201526"},"PeriodicalIF":0.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145839818","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":"Frontiers in glioblastoma therapy: Novel therapeutics, molecular pathways, and future clinical perspectives","authors":"Sandeep Pandey ,&nbsp;Akanksha Dwivedi ,&nbsp;Ranjana Singh ,&nbsp;Nimra Habib ,&nbsp;Dharmendra Kashyap ,&nbsp;Vaishali Saini ,&nbsp;Arjit Singh ,&nbsp;Ankit Sharma ,&nbsp;Hem Chandra Jha","doi":"10.1016/j.humgen.2025.201507","DOIUrl":"10.1016/j.humgen.2025.201507","url":null,"abstract":"<div><div>Glioblastoma (GBM) remains one of the most aggressive and therapy-refractory primary brain tumors, with patient survival exhibiting only marginal gains despite decades of intensive research and therapeutic advancement. Standard-of-care interventions, including maximal surgical resection, radiotherapy, and the alkylating agent temozolomide, confer only modest clinical benefit. The limited therapeutic efficacy is primarily attributed to pronounced intra- and intertumoral heterogeneity, the persistence of therapy-resistant glioblastoma stem-like cells, and the restrictive nature of the blood–brain barrier (BBB), which collectively impede durable treatment responses. These therapeutic challenges have intensified efforts to develop novel treatment strategies for glioblastoma. Recent advances in preclinical research increasingly leverage patient-derived stem cell and organoid models, which more faithfully recapitulate the molecular and phenotypic heterogeneity of human tumors and enable the identification of broadly effective therapeutic vulnerabilities. Emerging approaches include the exploration of histone deacetylase (HDAC) inhibitors, cyclin-dependent kinase (CDK) inhibitors, and other rationally designed small-molecule agents. In parallel, innovative drug delivery platforms such as nanoparticle-based formulations, convection-enhanced delivery, and focused ultrasound are being actively investigated to enhance blood–brain barrier permeability and improve intra-tumoral drug distribution.</div><div>Emerging therapeutic modalities, including immunotherapies such as immune checkpoint inhibitors, chimeric antigen receptor (CAR) T-cell therapies, and cancer vaccines, together with oncolytic virotherapy and gene-editing technologies, are broadening the therapeutic landscape of glioblastoma. This review synthesizes current advances in preclinical and translational research, emphasizing how the convergence of personalized medicine, multi-targeted pathway inhibition, and next-generation delivery platforms may collectively enhance therapeutic efficacy and ultimately improve patient survival.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"47 ","pages":"Article 201507"},"PeriodicalIF":0.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145616457","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":"Corrigendum to “Structural and functional analysis of SOX9 mutations in disorders of sex development (DSD): Integration of clinical data and in silico modeling” [Human Gene, Volume 46 (2025), Article 201461].","authors":"Fatou Diop Gueye ,&nbsp;Mama Sy Diallo ,&nbsp;Arame Ndiaye ,&nbsp;Mame Venus Gueye ,&nbsp;Ndiaga Diop ,&nbsp;Adji Dieynaba Diallo ,&nbsp;Rokhaya Ndiaye ,&nbsp;Oumar Faye","doi":"10.1016/j.humgen.2025.201512","DOIUrl":"10.1016/j.humgen.2025.201512","url":null,"abstract":"","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"47 ","pages":"Article 201512"},"PeriodicalIF":0.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147395083","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":"2025-12-01","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}