IF 2.4 3区生物学 Q2 GENETICS & HEREDITY

Gene

Pub Date : 2026-02-20 Epub Date: 2025-12-15 DOI: 10.1016/j.gene.2025.149951

Mian Feng , Thomas J. Hall , David E. MacHugh , Lisa M. Katz , Emmeline W. Hill

Early skeletal muscle development is critical for young racehorses, yet research on the transcriptional changes during this period is limited. Additionally, the impact of age on the transcriptional response to exercise training in equine athletes is not well understood. A transcriptome-wide analysis of differential gene expression in skeletal muscle was performed for five untrained Thoroughbred horses sampled at rest at two years old (UR2) and three years old (UR3). A total of 136 differentially expressed genes (DEGs) were identified, with 95 increased and 41 decreased in expression. GO enrichment analysis revealed that the DEGs were primarily associated with terms related to muscle assembly and system development, including Developmental process (GO:0032502), Anatomical structure development (GO:0048856), Actin cytoskeleton (GO:0015629), and Growth factor binding (GO:0019838). KEGG pathway analysis indicated that ECM-receptor interaction, Protein digestion and absorption, Focal adhesion, and PI3K-Akt signalling pathway were the significant functional pathways. Protein-protein interaction network and hub gene analyses identified seven key regulatory genes: COL1A1, COL1A2, COL3A1, S100A4, NOTCH1, THY1 and MT-ND2. In addition, the MSTN, COL4A1, COL4A2, SPEN, S100A4, NOTCH1, NOTCH3, and THY1 genes were found to play key roles in the functional development of skeletal muscle. This study provides insight into the transcriptional landscape of skeletal muscle development in young Thoroughbred horses. The period between two and three years of age represents a crucial stage in skeletal muscle adaptation in the juvenile horse, with a particular emphasis on muscle structural and functional integrity.

早期骨骼肌发育对年轻赛马至关重要，但在这一时期对转录变化的研究有限。此外，年龄对马运动员运动训练转录反应的影响尚不清楚。研究人员对5匹未经训练的纯种马在2岁（UR2）和3岁（UR3）休息时进行了骨骼肌差异基因表达的转录组分析。共鉴定出136个差异表达基因（DEGs），其中95个表达增加，41个表达减少。氧化石墨烯富集分析显示，deg主要与肌肉组装和系统发育相关，包括发育过程（GO:0032502）、解剖结构发育（GO:0048856）、肌动蛋白细胞骨架（GO:0015629）和生长因子结合（GO:0019838）。KEGG通路分析表明，ecm受体相互作用、蛋白质消化吸收、局灶黏附和PI3K-Akt信号通路是重要的功能通路。蛋白-蛋白相互作用网络和枢纽基因分析鉴定出7个关键调控基因：COL1A1、COL1A2、COL3A1、S100A4、NOTCH1、THY1和MT-ND2。此外，还发现MSTN、COL4A1、COL4A2、SPEN、S100A4、NOTCH1、NOTCH3和THY1基因在骨骼肌功能发育中起关键作用。这项研究提供了对年轻纯种马骨骼肌发育的转录景观的见解。2 - 3岁是马幼马骨骼肌适应的关键阶段，特别强调肌肉结构和功能的完整性。

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引用次数: 0

Genome-wide association study of tolerance to acute hypoxia in the olive flounder (Paralichthys olivaceus) using individual blood cortisol levels as a physiological phenotype 橄榄比目鱼对急性缺氧耐受性的全基因组关联研究，使用个体血液皮质醇水平作为生理表型

IF 2.4 3区生物学 Q2 GENETICS & HEREDITY

Gene

Pub Date : 2026-02-20 Epub Date: 2025-12-11 DOI: 10.1016/j.gene.2025.149952

M.A.H. Dilshan , Gaeun Kim , W.K.M. Omeka , D.S. Liyanage , H.M.V. Udayantha , D.C.G. Rodrigo , G.A.N.P. Ganepola , H.A.C.R. Hanchapola , Y.K. Kodagoda , Po Gong , Jihun Lee , Sukkyoung Lee , Jeongeun Kim , Jehee Lee

Hypoxia, caused by reduced dissolved oxygen (DO) levels in water, is a critical challenge in aquaculture and often results in stress, anorexia, and mass mortality in fish. The olive flounder (Paralichthys olivaceus) is a key species in South Korea’s global aquaculture exports. However, aquaculture production of P. olivaceus experiences significant economic losses caused by hypoxia-induced fish mortality, highlighting the critical need for developing genetically improved hypoxia-tolerant strains. In this study, a genome-wide association study (GWAS) was performed to unveil single-nucleotide polymorphisms (SNPs) associated with acute hypoxia tolerance and elucidate underlying regulatory mechanisms. A total of 382 P. olivaceus fish were measured for blood serum cortisol level using enzyme-linked immunosorbent assay (ELISA) upon acute hypoxia stress. Blood plasma cortisol levels were used as a proxy phenotype of hypoxia tolerance, with the hypothesis that elevated concentrations indicate low tolerance, and minimized concentrations indicate high tolerance to acute hypoxia stress. Then, fish were genotyped using the Affymetrix® Axiom® myDesign™ genotype array, and 57,651 SNPs were retained after quality control filtering. A significant SNP was identified on chromosome 15 of the P. olivaceus genome, above the suggestive threshold (p < 1 × 10⁻⁴) for the stress cortisol level trait. A strongly associated SNP with accession number AX-419149718 was located in the zona pellucida-like domain-containing protein 1 (Zpld1) gene. Gene ontology (GO) analysis suggests that Zpld1 is involved in signaling pathways, including the integrin-mediated signaling pathway, thereby contributing to the mitigation of hypoxia stress effects. Collectively, this study provides insights into the genetic basis of acute hypoxia tolerance in P. olivaceus and may serve as a foundation for establishing genomic selection of olive flounders with acute hypoxia stress tolerance in aquaculture breeding programs.

由水中溶解氧（DO）水平降低引起的缺氧是水产养殖中的一个关键挑战，经常导致鱼类应激、厌食和大量死亡。橄榄比目鱼（palichthys olivaceus）是韩国全球水产养殖出口的关键品种。然而，由于缺氧导致鱼类死亡，olivaceus的水产养殖遭受了重大的经济损失，因此迫切需要开发基因改良的耐缺氧菌株。在这项研究中，进行了一项全基因组关联研究（GWAS），揭示了与急性缺氧耐受性相关的单核苷酸多态性（snp），并阐明了潜在的调控机制。采用酶联免疫吸附法（ELISA）测定了382条橄榄鱼急性缺氧应激时的血清皮质醇水平。血浆皮质醇水平被用作低氧耐受性的代用表型，假设浓度升高表明低耐受性，而浓度最小化表明对急性缺氧应激的高耐受性。然后，使用Affymetrix®Axiom®myDesign™基因型阵列对鱼进行基因分型，质量控制过滤后保留了57,651个snp。在p . olivaceus基因组的第15号染色体上发现了一个显著的SNP，高于应激皮质醇水平性状的提示阈值（p < 1 × 10−4）。在透明带样结构域蛋白1 （Zpld1）基因中发现了一个与加入号AX-419149718密切相关的SNP。基因本体论（GO）分析表明，Zpld1参与信号通路，包括整合素介导的信号通路，从而有助于减轻缺氧胁迫的影响。总的来说，本研究提供了橄榄比目鱼急性缺氧耐受性的遗传基础，并可为在水产养殖育种计划中建立具有急性缺氧胁迫耐受性的橄榄比目鱼基因组选择奠定基础。

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引用次数: 0

Differential genomic signatures of homozygosity and a haplotype sharing Extents across breeds associated with body size variation in Korean indigenous goats 韩国本土山羊体型变异与品种间纯合子性和单倍型共享程度的差异基因组特征。

IF 2.4 3区生物学 Q2 GENETICS & HEREDITY

Gene

Pub Date : 2026-02-20 Epub Date: 2025-12-11 DOI: 10.1016/j.gene.2025.149956

Seongmin Kim , Hankyeol Jeong , Ga-Eun Kim , Kwan-Woo Kim , Woncheoul Park , Jaemin Kim , Bong-Hwan Choi

Korean indigenous goats are maintained as purebred lineages in geographically isolated populations such as Dangjin, Gyeongsang National University (GNU), Jangsu, and Tongyeong. However, their small population size and high rates of inbreeding have raised concerns regarding the preservation of genetic diversity. We generated SNP genotypes for 217 Korean indigenous goats using the GoatSNP50 BeadChip, and standardized body size measurements with complete metadata were available for 64 adult individuals. Principal component analysis (PCA) clearly separated the four lineages, with the GNU population showing particularly high values of inbreeding coefficient and proportion of runs of homozygosity, reflecting the impact of recent closed breeding. Genome-wide patterns of haplotype sharing revealed exploratory trends suggesting that introgression from global breeds tended to coincide with larger body size, whereas intensified inbreeding within the Korean population showed a general tendency toward reduced body size. Furthermore, cross-population extended haplotype homozygosity (XP-EHH) analysis revealed candidate genes, including ADGRL3, SP8, and ARL6IP5 that are likely involved in adaptation to seasonal environmental stress. Our findings highlight the global connectivity, functional relevance of body conformation traits, and selective signatures of Korean indigenous goats, providing a genomic foundation for preserving diversity and guiding future breeding.

在唐津、庆尚国立大学、长寿、统营等地理上孤立的地区，韩国本土山羊被维持为纯种。然而，它们的小种群规模和高近交率引起了人们对遗传多样性保护的关注。我们使用GoatSNP50 BeadChip对217只韩国本土山羊进行了SNP基因型分析，并对64只成年山羊进行了具有完整元数据的标准化体型测量。主成分分析（PCA）对4个世系进行了明显的分离，发现GNU群体的近交系系数和纯合子居次比例特别高，反映了近期封闭育种的影响。单倍型共享的全基因组模式揭示了探索性趋势，表明来自全球品种的基因渗入倾向于体型更大，而韩国种群内近亲繁殖的加剧则显示出体型变小的总体趋势。此外，跨群体扩展单倍型纯合分析（XP-EHH）揭示了候选基因，包括ADGRL3， SP8和ARL6IP5，可能参与适应季节性环境胁迫。我们的研究结果突出了韩国本土山羊的全球连通性、身体构象特征的功能相关性和选择性特征，为保护多样性和指导未来的育种提供了基因组基础。

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引用次数: 0

Gene therapy for Krabbe disease: evidence from mouse and canine models 克拉伯病的基因治疗：来自小鼠和犬模型的证据。

IF 2.4 3区生物学 Q2 GENETICS & HEREDITY

Gene

Pub Date : 2026-02-20 Epub Date: 2025-12-09 DOI: 10.1016/j.gene.2025.149949

Yang Li , Xiang Dong , Jian Guo , Ya-feng Lv

Globoid cell leukodystrophy (GLD) is an autosomal recessive lysosomal storage disorder caused by mutations in the β-galactosylceramidase (GALC) gene, resulting in enzyme deficiency and the progressive accumulation of galactosylsphingosine and galactosylceramide in the white matter of the central nervous system and in peripheral nerves, which in turn triggers demyelination. Although no curative therapy is currently available, studies in animal models in recent years have shown that gene therapy can ameliorate pathological and biochemical abnormalities and holds considerable promise for clinical translation. This article reviews advances in gene therapy in animal models of GLD and discusses key directions and challenges for future treatments.

Globoid cell leukodystrophy （GLD）是一种常染色体隐性溶酶体贮积症，由β-半乳糖神经酰胺酶（GALC）基因突变引起，导致中枢神经系统白质和周围神经中半乳糖神经酰胺和半乳糖神经酰胺的酶缺乏和进行性积累，进而引发脱髓鞘。虽然目前还没有治愈性的治疗方法，但近年来在动物模型上的研究表明，基因治疗可以改善病理和生化异常，并且在临床转化方面具有相当大的前景。本文综述了GLD动物模型基因治疗的进展，并讨论了未来治疗的关键方向和挑战。

引用次数: 0

Bioinformatics applications in pharmacogenomics: towards personalized medicine 生物信息学在药物基因组学中的应用：走向个性化医疗

IF 2.4 3区生物学 Q2 GENETICS & HEREDITY

Gene

Pub Date : 2026-02-10 Epub Date: 2025-12-04 DOI: 10.1016/j.gene.2025.149935

Nabil Zaid , Lamyaa Benchikhi , Banacer Himmi , Hassan Ghazal

Pharmacogenomics investigates how genetic variation influences individual responses to drug therapy and aims to optimize treatment outcomes through personalized approaches. Bioinformatics plays a foundational role in this field, enabling the processing, annotation, and interpretation of complex genomic and multi-omics datasets. This review explores the current landscape of bioinformatics in pharmacogenomics, including key databases, variant analysis tools, and artificial intelligence-driven predictive models. It also discusses the integration of multi-omics data, real-world clinical applications, and the regulatory and ethical frameworks supporting clinical implementation. Finally, the role of pharmacogenomics in drug discovery and development is highlighted, illustrating how genetic insights contribute to target identification, trial design, and drug repurposing. Together, these components form the computational backbone of precision medicine and are essential for translating genomic knowledge into actionable, patient-centered care.

药物基因组学研究遗传变异如何影响个体对药物治疗的反应，旨在通过个性化方法优化治疗结果。生物信息学在这一领域起着基础作用，使复杂的基因组和多组学数据集的处理、注释和解释成为可能。本文综述了药物基因组学中生物信息学的现状，包括关键数据库、变异分析工具和人工智能驱动的预测模型。它还讨论了多组学数据的集成，现实世界的临床应用，以及支持临床实施的监管和伦理框架。最后，强调了药物基因组学在药物发现和开发中的作用，说明了遗传见解如何有助于目标识别，试验设计和药物再利用。这些组成部分共同构成了精准医疗的计算支柱，对于将基因组知识转化为可操作的、以患者为中心的护理至关重要。

引用次数: 0

DoWRKY26 positively regulating flavonoid biosynthesis in Dendrobium officinale dowky26正调控铁皮石斛类黄酮生物合成。

IF 2.4 3区生物学 Q2 GENETICS & HEREDITY

Gene

Pub Date : 2026-02-10 Epub Date: 2025-12-06 DOI: 10.1016/j.gene.2025.149944

Ziling Tao , Shiyu Cai , YiMing Wang, Fengxiu li, Lu Lv, Haimeng Bai, Ludan Li, Jihong Jiang, Xiaoying Cao

Dendrobium officinale is renowned as the foremost among the “Nine Immortal Herbs of China”. Our previous research showed enhanced flavonoid accumulation following induction by the endophyte Wickerhamomyces sp. KLBMPSYLp8. Transcriptome data analysis identified multiple upregulated transcription factor (TF) genes. We conducted transient overexpression analysis of 10 significantly upregulated TF genes in D. officinale leaves. The results demonstrated that transient overexpression of the DoWRKY26 significantly enhanced flavonoid accumulation, with a 33 % increase compared to the empty vector control group. Furthermore, DoWRKY26 overexpression also upregulated the expression levels of key enzyme genes implicated in the flavonoid biosynthesis pathway. Subcellular localization confirmed its nuclear presence. DoWRKY26 expression was induced by salicylic acid (SA), abscisic acid (ABA), 1-Aminocyclopropane-1-carboxylic Acid (ACC) and methyl jasmonate (MeJA). Yeast one-hybrid (Y1H), Electrophoretic mobility shift assay (EMSA) and dual-luciferase reporter assays verified that DoWRKY26 could bind and activate the promoter of DoCCoAOMT. These findings provide a foundational basis for further exploring the biosynthesis and transcriptional regulation mechanisms of flavonoids in D. officinale.

铁皮石斛被誉为“中国九仙”之首。我们之前的研究表明，内生菌Wickerhamomyces sp. KLBMPSYLp8诱导后，黄酮类化合物的积累增强。转录组数据分析发现多个转录因子（TF）基因上调。我们对10个显著上调的TF基因在铁皮草叶片中进行了瞬时过表达分析。结果表明，瞬时过表达dowky26显著增强了黄酮类化合物的积累，与空载体对照组相比，增加了33 %。此外，dowky26的过表达还上调了与类黄酮生物合成途径相关的关键酶基因的表达水平。亚细胞定位证实了其核的存在。水杨酸（SA）、脱落酸（ABA）、1-氨基环丙烷-1-羧酸（ACC）和茉莉酸甲酯（MeJA）诱导dowky26表达。酵母单杂交（Y1H）、电泳迁移率转移试验（EMSA）和双荧光素酶报告子试验证实，dowky26可以结合并激活DoCCoAOMT的启动子。这些发现为进一步探索铁皮石斛黄酮类化合物的生物合成及转录调控机制提供了基础。

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引用次数: 0

Dynamic tumor microenvironment remodeling from laryngeal leukoplakia to carcinoma revealed by single-cell transcriptomics 单细胞转录组学揭示喉白斑到癌的动态肿瘤微环境重塑。

IF 2.4 3区生物学 Q2 GENETICS & HEREDITY

Gene

Pub Date : 2026-02-10 Epub Date: 2025-11-23 DOI: 10.1016/j.gene.2025.149917

Yunyi Liu, Peiyun Zhuang

Laryngeal leukoplakia represents the most frequent precancerous lesion in laryngeal carcinogenesis, yet its transformation mechanisms remain elusive. By performing scRNA-seq on ten clinical specimens (five leukoplakia lesions across pathological stages, four early carcinomas, and one control), we established the first single-cell atlas of this malignant progression. Computational analysis revealed dynamic microenvironmental shifts dominated by epithelial cells, fibroblasts, and mononuclear phagocytes. We identified two critical epithelial subpopulations: Epi_4 (tumor-like cells), a high-grade dysplasia-specific subpopulation with high malignant potential, and Epi_5 (tumor cells) in carcinoma, which carries a favorable prognostic gene signature (Module 3). Furthermore, Epi_4 showed preferential communication with cancer-associated fibroblasts (CAFs) and tumor-associated macrophages (TAMs) via the JAG1-NOTCH4 and CXCL5-CXCR1 axes, suggesting actionable therapeutic targets. We also observed the progressive activation of genes involved in redox processes (NQO1, GSTM3, UCHL1, NTRK2) via the KEAP1-NRF2 pathway. This work systematically characterizes the cellular and molecular landscape during laryngeal leukoplakia malignant transformation, providing a framework for future mechanistic studies and early detection strategies.

喉白斑是喉癌发生中最常见的癌前病变，但其转化机制尚不清楚。通过对10个临床标本（5个不同病理阶段的白斑病变，4个早期癌和1个对照）进行scrna测序，我们建立了这种恶性进展的第一个单细胞图谱。计算分析揭示了由上皮细胞、成纤维细胞和单核吞噬细胞主导的动态微环境变化。我们发现了两个关键的上皮亚群：Epi_4（肿瘤样细胞），一个高恶性潜能的高度发育不良特异性亚群，和Epi_5（肿瘤细胞），在癌中携带有利的预后基因标记（模块3）。此外，Epi_4表现出通过JAG1-NOTCH4和CXCL5-CXCR1轴与癌相关成纤维细胞（CAFs）和肿瘤相关巨噬细胞（tam）的优先通讯，提示了可行的治疗靶点。我们还观察到通过KEAP1-NRF2途径参与氧化还原过程的基因（NQO1、GSTM3、UCHL1、NTRK2）的逐步激活。这项工作系统地描述了喉白斑恶性转化过程中的细胞和分子景观，为未来的机制研究和早期检测策略提供了框架。

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引用次数: 0

Genetic analysis of a Chinese family with non-syndromic tooth agenesis may reveal a potential multi-locus etiology 对一个中国非综合征性牙齿发育家族的遗传分析可能揭示潜在的多位点病因。

IF 2.4 3区生物学 Q2 GENETICS & HEREDITY

Gene

Pub Date : 2026-02-10 Epub Date: 2025-11-20 DOI: 10.1016/j.gene.2025.149915

Youmei Wu, Xinzhu Li, Junyang Chen, Bo Yang, Xiaojun Yang, Jin Hou

Tooth agenesis (TA), one of the most common craniofacial developmental anomalies, is characterized by the congenital absence of one or more teeth. While numerous genes have been implicated in non-syndromic tooth agenesis (NSTA), its genetic architecture often remains complex. In this study, we investigated the genetic basis of NSTA in a two-generation Chinese family utilizing whole-exome sequencing (WES) complemented by Sanger sequencing. Our analysis revealed a complex segregation pattern of multiple variants. After systematic filtering based on pathogenicity predictions and minor allele frequency (MAF), we identified eight potential contributory variants. These include homozygous missense variants in EDAR (c.1109 T > C), GHR (c.1630A > C), and COL17A1 (c.629C > T), a heterozygous missense variant in CEP152 (c.161C > T), and DSP (c.5213G > A) and three rare heterozygous missense variants in CCDC154 (c.925C > T), FRAS1 (c.9628G > A), and NBAS (c.5095G > A). Notably, the variants in GHR, CCDC154, FRAS1, and NBAS represent potential novel candidate genes for NSTA, thereby expanding the variant spectrum associated with this condition. The co-segregation of these multi-locus variants suggests that inheritance might be complex, perhaps involving oligogenic mechanisms. This points to the possibility of intricate genetic interactions in tooth development, offering new clues about the molecular basis of familial NSTA.

牙齿发育不全（TA）是最常见的颅面发育异常之一，其特征是先天性缺失一颗或多颗牙齿。虽然许多基因与非综合征性牙齿发育（NSTA）有关，但其遗传结构通常仍然很复杂。在这项研究中，我们利用全外显子组测序（WES）和桑格测序（Sanger sequencing）研究了一个中国两代家庭NSTA的遗传基础。我们的分析揭示了多种变体的复杂分离模式。经过基于致病性预测和次要等位基因频率（MAF）的系统过滤，我们确定了8个潜在的致病变异。EDAR包括纯合子的错义变体(c.1109 T > C), GHR (c.1630A > C),和COL17A1 (c.629C > T),一个杂合的错义变体在CEP152 (c.161C > T),和DSP (c.5213G > a)和三个罕见的杂合的错义变体在CCDC154 (c.925C > T), FRAS1 (c.9628G > a),和nba (c.5095G > a)。值得注意的是，GHR、CCDC154、FRAS1和NBAS中的变异代表了NSTA的潜在新候选基因，从而扩大了与该疾病相关的变异谱。这些多位点变异的共分离表明，遗传可能是复杂的，可能涉及寡生机制。这表明了牙齿发育过程中复杂的遗传相互作用的可能性，为家族性NSTA的分子基础提供了新的线索。

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引用次数: 0

TRPV4-mediated mechanotransduction of matrix stiffness in the pathogenesis, progression, and malignant transformation of oral submucous fibrosis trpv4介导的基质刚度在口腔黏膜下纤维化的发病、进展和恶性转化中的机械转导。

IF 2.4 3区生物学 Q2 GENETICS & HEREDITY

Gene

Pub Date : 2026-02-10 Epub Date: 2025-12-04 DOI: 10.1016/j.gene.2025.149936

Sampurna Raha, Rajiv S. Desai, Shivani P. Bansal, Pankaj M. Shirsat, Pooja S. Prasad

Oral Submucous Fibrosis (OSF) is a long-standing, scarring, inflammatory, potentially malignant disorder induced by areca nut. The transient receptor potential vanilloid 4 (TRPV4), a cation channel permeable to Ca²⁺, in the TRPV family, is implicated in wound healing, fibrotic changes and malignancy, but its role as a mechanosensor for matrix-stiffness and stress in OSF and its malignant transformation to oral squamous cell carcinoma (OSCC) remains unexplored. The current research sought to investigate the probable involvement of TRPV4 in the onset different OSF stages and its progression to malignancy by immunohistochemistry. Primary antibodies targeting TRPV4 were applied to formalin-fixed paraffin-embedded blocks from ten cases for each category: (a) Stage-1 OSF, (b) Stage 2 OSF, (c) Stage 3 OSF, (d) Stage 4 OSF, (e) OSCC + OSF, and (vi) OSCC − OSF. Additionally, buccal mucosa tissues from ten healthy individuals (NOM) were utilized as control. Mean epithelial quick scores of TRPV4 in NOM, Stages 1–4 OSF, and OSCC with and without OSF were 1.2, 2.5, 3.9, 4.5, 4.6, 5.8, and 6.2, while connective tissue scores were 1.5, 3.5, 4.1, 4.7, 5.3, 5.9, and 6.5, respectively. TRPV4 expression was upregulated in Stages 3 OSF and 4 OSF and OSCC in the presence or absence of OSF compared to NOM and Stage 1 and 2 OSF. This study evaluates the unpaved role of TRPV4 in OSF, mediated by various canonical pathways, contributing to its development by increasing matrix-stiffness and rigidity, which further upregulates TRPV4 expression, ultimately facilitating carcinogenesis.

口腔黏膜下纤维化（OSF）是由槟榔引起的一种长期存在的、疤痕性的、炎症性的、潜在的恶性疾病。TRPV家族中的瞬时受体电位香兰素4 （TRPV4）是一种可渗透到Ca2+的阳离子通道，与伤口愈合、纤维化改变和恶性肿瘤有关，但其作为OSF基质刚度和应力的机械传感器及其向口腔鳞状细胞癌（OSCC）的恶性转化的作用仍未被探索。本研究试图通过免疫组织化学方法探讨TRPV4在OSF不同阶段的发病及其向恶性发展中的可能参与。将靶向TRPV4的一抗应用于10例福尔马林固定石蜡包埋块中，每个类别：(a) 1期OSF， (b) 2期OSF， (c) 3期OSF， (d) 4期OSF， (e) OSCC + OSF, (vi) OSCC - OSF。另外，以10名健康个体（NOM）的口腔黏膜组织作为对照。TRPV4在NOM、1-4期OSF和有无OSF的OSCC中的平均上皮快速评分分别为1.2、2.5、3.9、4.5、4.6、5.8和6.2，结缔组织评分分别为1.5、3.5、4.1、4.7、5.3、5.9和6.5。与NOM和第1、2期OSF相比，无论OSF存在与否，TRPV4在第3期OSF和第4期OSF和OSCC中的表达均上调。本研究评估了TRPV4在OSF中的非铺平作用，通过多种典型途径介导，通过增加基质刚度和刚性来促进其发展，从而进一步上调TRPV4的表达，最终促进癌变。

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引用次数: 0

Editors’ Corner: Suppressor of cytokine signaling 6 (SOCS6) mediates ubiquitination-dependent degradation of SLC7A11 to promote ferroptosis in ovarian cancer 细胞因子信号传导抑制因子6 （SOCS6）介导SLC7A11泛素化依赖性降解，促进卵巢癌铁下垂。

IF 2.4 3区生物学 Q2 GENETICS & HEREDITY

Gene

Pub Date : 2026-02-10 Epub Date: 2025-12-06 DOI: 10.1016/j.gene.2025.149937

Xavier Graña

引用次数: 0

Gene最新文献