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RNA-binding protein expression based machine learning model predicts metastasis and treatment outcome of testicular cancer. 基于rna结合蛋白表达的机器学习模型预测睾丸癌的转移和治疗结果。
IF 1.6 4区 生物学
Genes & genomics Pub Date : 2025-06-01 Epub Date: 2025-03-26 DOI: 10.1007/s13258-025-01636-9
Lin-Jian Mo, Hai-Qi Liang, Zhen-Yuan Yu, Yao-Wen Liang, Chuan-Xin Gu, Qiu-Ju Wei, Qi-Huan He, Fa-Ye Wei, Ji-Wen Cheng, Zeng-Nan Mo
{"title":"RNA-binding protein expression based machine learning model predicts metastasis and treatment outcome of testicular cancer.","authors":"Lin-Jian Mo, Hai-Qi Liang, Zhen-Yuan Yu, Yao-Wen Liang, Chuan-Xin Gu, Qiu-Ju Wei, Qi-Huan He, Fa-Ye Wei, Ji-Wen Cheng, Zeng-Nan Mo","doi":"10.1007/s13258-025-01636-9","DOIUrl":"10.1007/s13258-025-01636-9","url":null,"abstract":"<p><strong>Background: </strong>RNA-binding proteins (RBPs) are key regulators of cellular transcription and are associated with the occurrence and development of diseases.</p><p><strong>Objective: </strong>This study aimed to validate the biological characteristics and clinical value of RBPs in testicular cancer, and then construct prediction models for testicular cancer metastasis and treatment outcome.</p><p><strong>Methods: </strong>RNA sequencing data from 150 testicular tumors and 6 normal tissues were obtained from the cancer genome atlas (TCGA). Additionally, RNA sequencing data from 165 normal testicular tissues were downloaded from the genotype-tissue expression (GTEx) portal. The chemotherapy sensitivity of testicular tumor was evaluated based on the genomics of drug sensitivity in cancer (GDSC) and cancer therapeutics response portal (CTRP) databases. RNA sequencing data was analyzed and predicted for tumor metastasis and treatment outcomes through machine learning models such as artificial neural networks (ANN), random forests (RF), support vector machines (SVM), and logistic regression models (LR).</p><p><strong>Results: </strong>A RBP risk-score model was developed with the genes: GAPDH, APOBEC3G, KRT18, NOSIP, KCTD12, ENO1, HMGA1, LDHB, ANXA2, ELOVL6, TCF7, BICD1. Those biomarkers were enriched in growth factor activity, hormone receptor binding, and cell killing signaling pathway. Risk-score model can predict the progress free interval (PFI), disease free interval (DFI), and metastasis status of patients with testicular cancer. Patients with high risk-score tumor had an increased tumor infiltrating M2 macrophage, and were more likely to progress after anti-PD-L1 immunotherapy. High risk patients seemed to benifit more from cisplatin-based chemotherapy, but less from bleomycin chemotherapy. Machine learning models basing on RBPs were able to predict tumor metastasis and the effects of chemotherapy and radiotherapy. ANN model achieved the highest accuracy in predicting tumor lymph node metastasis and radiotherapy sensitivity.</p><p><strong>Conclusion: </strong>RBP signature genes can serve as biomarkers for testicular cancer and play a role in predicting tumor metastasis and therapeutic efficacy.</p>","PeriodicalId":12675,"journal":{"name":"Genes & genomics","volume":" ","pages":"741-759"},"PeriodicalIF":1.6,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143729575","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Iris bungei Maxim. extract promotes brown adipocyte differentiation. Iris bungei Maxim。提取物促进棕色脂肪细胞分化。
IF 1.6 4区 生物学
Genes & genomics Pub Date : 2025-06-01 Epub Date: 2025-04-28 DOI: 10.1007/s13258-025-01645-8
Jaegoo Yeon, Sung-Suk Suh, Ui-Joung Youn, Badamtsetseg Bazarragchaa, Ganbold Enebish, Jong Bae Seo
{"title":"Iris bungei Maxim. extract promotes brown adipocyte differentiation.","authors":"Jaegoo Yeon, Sung-Suk Suh, Ui-Joung Youn, Badamtsetseg Bazarragchaa, Ganbold Enebish, Jong Bae Seo","doi":"10.1007/s13258-025-01645-8","DOIUrl":"10.1007/s13258-025-01645-8","url":null,"abstract":"<p><p>BACKGROUND : Iris bungei Maxim., a plant native to the desert grasslands of the Inner Mongolian Plateau and traditionally used in Mongolian medicine, has been shown to influence adipocyte differentiation in white adipose tissue. However, its effects on brown adipocyte differentiation have not been previously explored.</p><p><strong>Objective: </strong>This study aimed to investigate the effects of Iris bungei Maxim. (IB) extract on brown adipocyte differentiation, focusing on lipid accumulation, gene expression, mitochondrial biogenesis, and functionality.</p><p><strong>Methods: </strong>Immortalized murine brown preadipocytes were treated with IB extract during differentiation. Lipid accumulation, expression of brown adipocyte-specific genes, and mitochondrial biogenesis (MitoTracker Red staining, mitochondrial DNA content, oxidative phosphorylation protein levels) were evaluated. Additionally, mitochondrial respiration and isoproterenol-induced UCP-1 expression were analyzed to assess functional effects. Bioactive compounds in the IB extract were identified using feature-based molecular networking (FBMN) with the Global Natural Products Social Molecular Networking (GNPS).</p><p><strong>Results: </strong>The IB extract significantly enhanced brown adipocyte differentiation, as evidenced by increased lipid accumulation and upregulation of brown adipocyte-specific genes, such as UCP-1, PGC-1α, and PRDM16. Moreover, mitochondrial biogenesis was notably elevated, as indicated by enhanced MitoTracker Red staining, increased mitochondrial DNA content, and upregulated oxidative phosphorylation protein expression. The extract also improved mitochondrial respiration, suggesting enhanced mitochondrial functionality. Furthermore, the IB extract amplified isoproterenol-induced UCP-1 expression, indicating its potential role in thermogenesis regulation. Additionally, FBMN-GNPS analysis identified the chemical constituents in the IB extract by mass replication in the spectral matching to those in online databanks.</p><p><strong>Conclusion: </strong>These findings suggest that the methanol extract of IB could be a promising agent for promoting brown adipocyte differentiation and enhancing mitochondrial activity, with potential applications in managing obesity and metabolic disorders.</p>","PeriodicalId":12675,"journal":{"name":"Genes & genomics","volume":" ","pages":"761-776"},"PeriodicalIF":1.6,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143997894","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Whole exome sequencing of 80 cases of sporadic mitral valve prolapse reveals novel disease-associated genes and variants in a Southern Chinese population. 80例散发性二尖瓣脱垂的全外显子组测序揭示了中国南方人群中新的疾病相关基因和变异。
IF 1.6 4区 生物学
Genes & genomics Pub Date : 2025-06-01 Epub Date: 2025-03-25 DOI: 10.1007/s13258-025-01626-x
Qiuji Wang, Junfei Zhao, Huanlei Huang
{"title":"Whole exome sequencing of 80 cases of sporadic mitral valve prolapse reveals novel disease-associated genes and variants in a Southern Chinese population.","authors":"Qiuji Wang, Junfei Zhao, Huanlei Huang","doi":"10.1007/s13258-025-01626-x","DOIUrl":"10.1007/s13258-025-01626-x","url":null,"abstract":"<p><strong>Background: </strong>Mitral valve prolapse (MVP) is a common valvular disorder with a complex genetic basis. While familial MVP-related genes have been identified, the genetic determinants of sporadic MVP remain unclear.</p><p><strong>Objective: </strong>This study aims to identify causative genes associated with sporadic MVP and analyze genotype-phenotype correlations in a southern Chinese population.</p><p><strong>Methods: </strong>Whole-exome sequencing (WES) was performed on 80 patients with sporadic MVP. Pathogenic variants were screened using population databases and bioinformatic tools. Gene enrichment and genotype-phenotype correlation analyses were conducted.</p><p><strong>Results: </strong>A total of 145 variants in 104 MVP-associated genes were identified. Five known MVP genes (COL1A2, FLNA, FLNC, TGFB1, TTN) were found in 14 patients. Three novel MVP-related genes (PRDM5, ZNF469, COL11A1) were identified, predominantly in fibroelastic deficiency cases. These patients had younger onset and higher early diastolic peak velocities.</p><p><strong>Conclusions: </strong>Sporadic MVP exhibits genetic heterogeneity, with pathogenic mutations linked to early-onset disease and left ventricular dilation. Early genetic screening may improve diagnosis and risk assessment.</p>","PeriodicalId":12675,"journal":{"name":"Genes & genomics","volume":" ","pages":"687-696"},"PeriodicalIF":1.6,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143709387","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
RalB promotes lymph node metastasis in tongue squamous cell carcinoma. RalB促进舌鳞癌淋巴结转移。
IF 1.6 4区 生物学
Genes & genomics Pub Date : 2025-06-01 Epub Date: 2025-04-10 DOI: 10.1007/s13258-025-01628-9
Yuman Zhang, Jiali Yang, Yi Gong, Zhihan Liu, Yanguang Yang, Xiaoyong Song, Yuting Gao, Yajun Xiong, Dan Wang, Kai Fu, Lifeng Jia, Xinli Shi
{"title":"RalB promotes lymph node metastasis in tongue squamous cell carcinoma.","authors":"Yuman Zhang, Jiali Yang, Yi Gong, Zhihan Liu, Yanguang Yang, Xiaoyong Song, Yuting Gao, Yajun Xiong, Dan Wang, Kai Fu, Lifeng Jia, Xinli Shi","doi":"10.1007/s13258-025-01628-9","DOIUrl":"10.1007/s13258-025-01628-9","url":null,"abstract":"<p><strong>Background: </strong>Lymph nodes metastasis is the main metastasis mode of tongue squamous cell carcinoma (TSCC). Ras related GTP binding protein B (RalB) have been recently described that it was involved in tumor growth and metastasis, but the effect in TSCC is still ill-defined.</p><p><strong>Objective: </strong>This study provides insights into the role of RALB as a prognostic factor in head and neck squamous cell carcinoma (HNSCC) and demonstrates its involvement in promoting lymph node metastasis in TSCC.</p><p><strong>Methods: </strong>Firstly, the expression level of RALB and the relationship with clinical features were examined. Subsequently, RALB knockdown Cal-27 cells orthotopic xenotransplantation in the tongue of BALB/c nude mice were established. Finally, using Connectivity Map (CMAP) database to find possible drugs.</p><p><strong>Results: </strong>Firstly, RALB could not only predict the cancer patients' prognosis and survival and but also act as a potential prognostic factor, particularly in HNSCC by pan-cancer bioinformatics analysis. In addition, we found that RalB promoted tumor growth and lymph node metastasis. Finally, we identified Tirabrutinib (ONO-4059) targeting RalB with good binding properties.</p><p><strong>Conclusions: </strong>RalB act as a prognostic gene in HNSCC, and promote lymph node metastasis in early stage of TSCC.</p>","PeriodicalId":12675,"journal":{"name":"Genes & genomics","volume":" ","pages":"697-705"},"PeriodicalIF":1.6,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143992651","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Lactate released by lung adenocarcinoma (LUAD) cells promotes M2 macrophage polarization via the GPR132/cAMP/PKA pathway. 肺腺癌(LUAD)细胞释放乳酸通过GPR132/cAMP/PKA通路促进M2巨噬细胞极化。
IF 1.6 4区 生物学
Genes & genomics Pub Date : 2025-05-01 Epub Date: 2025-03-07 DOI: 10.1007/s13258-025-01622-1
Xiao Chen, Zhongzheng Zhang, Kangwu Wang
{"title":"Lactate released by lung adenocarcinoma (LUAD) cells promotes M2 macrophage polarization via the GPR132/cAMP/PKA pathway.","authors":"Xiao Chen, Zhongzheng Zhang, Kangwu Wang","doi":"10.1007/s13258-025-01622-1","DOIUrl":"10.1007/s13258-025-01622-1","url":null,"abstract":"<p><strong>Background: </strong>Increasing evidence suggests that lactate is an essential compound in the tumor microenvironment, and especially for macrophage cells. However, the mechanism by which lactate affects macrophages remains unclear.</p><p><strong>Objective: </strong>This study investigated whether and how lactate affects macrophage polarization in lung adenocarcinoma (LUAD).</p><p><strong>Methods: </strong>Clinical samples of LUAD and paracancerous tissue were obtained for evaluation of lactate dehydrogenase A (LDHA) expression. LUAD cell lines and THP-1 induced macrophages were used in this study. Quantitative real-time PCR (QPCR), western blotting, and immunohistochemical (IHC) staining were performed to detect gene expression. Flow cytometry and ELISA assays were used to detect the levels of M1 macrophage and M2 macrophage biomarkers.</p><p><strong>Results: </strong>LDHA was highly expressed in the LUAD tissues. Culture medium supernatants derived from LUAD cells (CM) promoted macrophage M2 polarization, and lactate levels were elevated in the CM. Inhibition of LDHA in LUAD cells decreased lactate levels and suppressed M2 macrophage polarization. Moreover, overexpression of GPR132 in macrophages promoted, while GPR132 knockdown in macrophages suppressed M2 macrophage polarization and cAMP (Cyclic Adenosine 3',5'-Monophosphate)/PKA (Protein Kinase) pathway activation induced by lactate. The effect of GPR132 overexpression was reversed by a PKA inhibitor (H-89).</p><p><strong>Conclusion: </strong>Collectively, our results confirmed that lactate released by LUAD cells promoted M2 macrophage polarization via the GPR132/cAMP/PKA pathway.</p>","PeriodicalId":12675,"journal":{"name":"Genes & genomics","volume":" ","pages":"521-531"},"PeriodicalIF":1.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143572681","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Exploring the role of alternative splicing in the pathogenesis of Sjögren's syndrome: identification of novel isoforms associated with salivary gland immune infiltration. 探索选择性剪接在Sjögren综合征发病机制中的作用:鉴定与唾液腺免疫浸润相关的新亚型。
IF 1.6 4区 生物学
Genes & genomics Pub Date : 2025-05-01 Epub Date: 2025-03-18 DOI: 10.1007/s13258-025-01633-y
Jiaxu Chen, Zhenghao Shi, Luan Xue
{"title":"Exploring the role of alternative splicing in the pathogenesis of Sjögren's syndrome: identification of novel isoforms associated with salivary gland immune infiltration.","authors":"Jiaxu Chen, Zhenghao Shi, Luan Xue","doi":"10.1007/s13258-025-01633-y","DOIUrl":"10.1007/s13258-025-01633-y","url":null,"abstract":"<p><strong>Introduction: </strong>Sjögren's syndrome (SS) is an autoimmune disorder affecting exocrine glands, causing dry mouth and eyes, with no effective treatment. While high-throughput sequencing has provided insights into its mechanisms, the role of alternative splicing (AS) in SS remains underexplored.</p><p><strong>Objective: </strong>To investigate the relationship between immune infiltration in the salivary glands and AS events at the transcriptomic level, and to identify potential biomarkers that may be linked to the diagnosis and prognosis of SS.</p><p><strong>Methods: </strong>Transcriptomic data from salivary glands were aligned to the GRCh38 genome using HISAT2. Isoform quantification was performed with StringTie, and differential isoform usage was analyzed with DEXSeq in the IsoformSwitchAnalyzeR pipeline. Further analyses were conducted to explore the relationship between AS events, clinical data and immune infiltration.</p><p><strong>Results: </strong>16 genes showed significant alternative splicing between biopsy-positive and biopsy-negative salivary glands. These genes were linked to immune regulation. Isoform usage ratios integrated with clinical data identified MAP4K1, SH2D3C, and ACAP1 isoforms as potential diagnostic biomarkers. Immune infiltration analysis showed a strong correlation between memory B cells, follicular helper T cells, and biopsy scores, with significant differences between biopsy-positive and biopsy-negative tissues. A correlation between immune infiltration and isoform usage provided insights into gene function and disease progression.</p><p><strong>Conclusions: </strong>This study reveals the critical role of AS in SS, identifying 16 genes with differential isoform usage that may serve as biomarkers for diagnosis and prognosis. The link between immune infiltration and splicing suggests that AS influences immune responses in SS, providing opportunities for targeted therapies. These findings emphasize AS's importance in SS and offer new diagnostic and therapeutic avenues.</p>","PeriodicalId":12675,"journal":{"name":"Genes & genomics","volume":" ","pages":"559-569"},"PeriodicalIF":1.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143656901","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Perillic acid disrupts the specification of germ layers by upregulating the FGF/MAPK pathway. 紫苏酸通过上调FGF/MAPK通路破坏胚层的规范。
IF 1.6 4区 生物学
Genes & genomics Pub Date : 2025-05-01 Epub Date: 2025-04-10 DOI: 10.1007/s13258-025-01641-y
Gang-Ho Yoon, Dong-Seok Park, Myeoung Su Kim, Sun-Cheol Choi
{"title":"Perillic acid disrupts the specification of germ layers by upregulating the FGF/MAPK pathway.","authors":"Gang-Ho Yoon, Dong-Seok Park, Myeoung Su Kim, Sun-Cheol Choi","doi":"10.1007/s13258-025-01641-y","DOIUrl":"10.1007/s13258-025-01641-y","url":null,"abstract":"<p><strong>Background: </strong>Xenopus embryo is an ideal model for teratogenesis assays to assess the effects of any compounds on the cellular processes crucial for early development and adult tissue homeostasis.</p><p><strong>Objective: </strong>In our screening of a chemical library with frog embryo to identify novel compounds that exert specific effects on key cellular signaling pathways, perillic acid (PA) was found to disrupt germ layer specification in early development. Thus, the mechanism underlying this effect was investigated.</p><p><strong>Methods: </strong>Embryos were exposed to PA during a specific period of early development to observe stage-specific morphological alterations induced by this compound. Whole-mount in situ hybridization was performed to examine its effects on ectodermal and mesodermal differentiation and the anterior-posterior patterning of neural tissue. Western blotting analysis was employed to identify the signaling pathways through which PA influences germ layer formation in Xenopus development.</p><p><strong>Results: </strong>PA-treated embryos exhibited the shortening of the anterior-posterior body axis, truncation of craniofacial structures and malformation of neural crest (NC). These severe morphological defects occurred when embryos became exposed to PA during the gastrula stages. Consistent with these phenotypes, treatment with PA caused significant expansion of neural tissue concomitant with a reduction of epidermal and NC cell fates. Furthermore, PA induced the caudalization of neural fate and expressions of paraxial mesodermal genes, recapitulating the activity of the FGF/MAPK signals in germ layer specification. In line with this, ERK activation could be induced by PA treatment, which was mediated by the FGFR1 pathway.</p><p><strong>Conclusion: </strong>PA affects the anterior-posterior neural patterning and mesodermal specification by activating the FGF/MAPK signaling pathway.</p>","PeriodicalId":12675,"journal":{"name":"Genes & genomics","volume":" ","pages":"637-649"},"PeriodicalIF":1.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143998921","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
CTHRC1 expresses in cancer-associated fibroblasts and is associated with resistance to anti-androgen therapy in prostate cancer. CTHRC1在癌症相关成纤维细胞中表达,并与前列腺癌抗雄激素治疗的耐药性有关。
IF 1.6 4区 生物学
Genes & genomics Pub Date : 2025-05-01 Epub Date: 2025-02-26 DOI: 10.1007/s13258-025-01624-z
Hai-Qi Liang, Qi-Huan He, Qiu-Ju Wei, Qi-Zhou Mo, Guang-Lin Yang, Fa-Ye Wei, Li-Wei Wei, Yu-Jian Li, Min Qin, Ji-Wen Cheng
{"title":"CTHRC1 expresses in cancer-associated fibroblasts and is associated with resistance to anti-androgen therapy in prostate cancer.","authors":"Hai-Qi Liang, Qi-Huan He, Qiu-Ju Wei, Qi-Zhou Mo, Guang-Lin Yang, Fa-Ye Wei, Li-Wei Wei, Yu-Jian Li, Min Qin, Ji-Wen Cheng","doi":"10.1007/s13258-025-01624-z","DOIUrl":"10.1007/s13258-025-01624-z","url":null,"abstract":"<p><strong>Background: </strong>CTHRC1 overexpresses in prostate cancer and is associated with the proliferation, invasion and migration of prostate cancer cells. However, the roles and mechanisms of CTHRC1 expression in prostate cancer prognosis and treatment outcomes remain unknown.</p><p><strong>Objective: </strong>This study aimed to explore the expression and gene function of CTHRC1 in prostate cancer, investigate the prognostic value and potential effect in the treatment of prostate cancer.</p><p><strong>Methods: </strong>Bulk and single-cell RNA sequencing analyses were used to evaluate the expression of CTHRC1 in prostate cancer. All data used in the study were obtained from publicly available sources to ensure transparency. Study enrolled 1999 cases of prostate cancer and 531 normal controls. Single-cell RNA sequencing profile included 62,995 cells from seven prostate primary tumors. CTHRC1 expression and prognosis analyses were conducted with these samples and verified by immunohistochemical staining. CIBERSORT algorithm was used to assess the tumor immune infiltrating cells based on bulk mRNA sequencing profiles. Genomics of drug sensitivity in cancer (GDSC) database was used to predict IC50 to anti-androgen therapy (ADT) drugs of the samples.</p><p><strong>Results: </strong>CTHRC1 expressed in prostate cancer was higher than that in normal prostate tissue, and the expression increased with the progress of prostate cancer. CTHRC1 was the risk factor of progression-free interval (PFI). CTHRC1 was positively correlated with the infiltration of tumor-associated macrophages (TAMs). Myofibroblast-like cancer-associated fibroblasts (myCAFs) were the major CTHRC1 expressers in prostate cancer. TGF-β signaling activated in CTHRC1-positive myCAFs and was involved in TAMs polarization. Biological functions of myCAFs were enriched in hormone response and metabolism. CTHRC1 may regulate androgen receptor signaling through CCN2/CAV1/AR pathway. Moreover, ADT drug Bicalutamide and AZD3514 were less sensitive in the high CTHRC1 expression tumors.</p><p><strong>Conclusions: </strong>As a potential molecular target of ADT resistance in prostate cancer, CTHRC1 provides a new promising molecular approach for the diagnosis and treatment of prostate cancer.</p>","PeriodicalId":12675,"journal":{"name":"Genes & genomics","volume":" ","pages":"541-557"},"PeriodicalIF":1.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143500585","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Analysing glycolysis-related genes reveals the prognostic and diagnostic relevance of IER3 and AGRN in colorectal cancer. 分析糖酵解相关基因揭示了IER3和agn在结直肠癌中的预后和诊断意义。
IF 1.6 4区 生物学
Genes & genomics Pub Date : 2025-05-01 Epub Date: 2025-03-06 DOI: 10.1007/s13258-025-01618-x
Samaneh Dalali, Fatemeh Kaviani, Mohammad Mahdevar, Andisheh Oroujalian, Maryam Peymani
{"title":"Analysing glycolysis-related genes reveals the prognostic and diagnostic relevance of IER3 and AGRN in colorectal cancer.","authors":"Samaneh Dalali, Fatemeh Kaviani, Mohammad Mahdevar, Andisheh Oroujalian, Maryam Peymani","doi":"10.1007/s13258-025-01618-x","DOIUrl":"10.1007/s13258-025-01618-x","url":null,"abstract":"<p><strong>Background: </strong>Colorectal cancer (CRC) is a significant global health issue, with early detection being critical to improving patient survival. Dysregulation of the glycolysis pathway plays a pivotal role in CRC progression, but specific gene-level mechanisms remain underexplored.</p><p><strong>Objective: </strong>This study aimed to investigate the role of glycolysis-related genes in CRC development and identify potential diagnostic and prognostic biomarkers.</p><p><strong>Methods: </strong>We utilized The Cancer Genome Atlas (TCGA) dataset to perform differential expression analysis of glycolysis-related genes in CRC. Protein-protein interaction (PPI) network analysis was conducted to identify central hub genes. The diagnostic potential of selected genes was evaluated using ROC curve analysis, while their expression levels were validated through RT-qPCR.</p><p><strong>Results: </strong>IER3 and AGRN were identified as significantly upregulated genes associated with reduced survival rates in CRC patients. PPI analysis revealed their roles as central hub genes within the glycolysis pathway. ROC curve analysis demonstrated their ability to distinguish CRC patients from healthy individuals. Validation through RT-qPCR confirmed their significant overexpression in CRC samples, highlighting their involvement in disease progression.</p><p><strong>Conclusion: </strong>IER3 and AGRN are critical components of the glycolysis pathway, driving CRC development and progression while also showing potential as biomarkers for predicting outcomes, diagnosing CRC, and serving as treatment targets.</p>","PeriodicalId":12675,"journal":{"name":"Genes & genomics","volume":" ","pages":"509-520"},"PeriodicalIF":1.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143566913","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Ectopic expression of AtMYB115 and AtMYB118 induces green tissue formation in non-green organs of Arabidopsis thaliana. AtMYB115和AtMYB118异位表达可诱导拟南芥非绿色器官的绿色组织形成。
IF 1.6 4区 生物学
Genes & genomics Pub Date : 2025-05-01 Epub Date: 2025-03-26 DOI: 10.1007/s13258-025-01639-6
Hyeon-Ung Jang, Sang-Kee Song
{"title":"Ectopic expression of AtMYB115 and AtMYB118 induces green tissue formation in non-green organs of Arabidopsis thaliana.","authors":"Hyeon-Ung Jang, Sang-Kee Song","doi":"10.1007/s13258-025-01639-6","DOIUrl":"10.1007/s13258-025-01639-6","url":null,"abstract":"<p><strong>Background: </strong>A dominant mutant, green root-dominant (grt-D), which exhibits a green-root phenotype, was identified using the GAL4-UAS activation tagging system in the Q2610 enhancer trap line of Arabidopsis thaliana (Arabidopsis).</p><p><strong>Objective: </strong>To identify the gene responsible for the grt-D phenotype and investigate whether its ectopic expression induces green petal formation.</p><p><strong>Methods: </strong>The gene responsible for the grt-D phenotype was identified via thermal asymmetric interlaced-polymerase chain reaction (PCR). The cloned gene and its homolog were expressed under the control of the Q2610 enhancer for root tip expression and the APETALA3 (AP3) or PISTILLATA (PI) promoter for petal-preferential expression.</p><p><strong>Results: </strong>The 5 × UAS tag in grt-D was located 111 base pairs upstream of the start codon of AtMYB115. Ectopic expression of AtMYB115 or its closest homolog, AtMYB118, under the Q2610 enhancer recapitulated the grt-D green-root phenotype, indicating functional equivalence between the two genes. To examine their effect on petal development, AtMYB115 and AtMYB118 were expressed under the AP3 and PI promoters. The resulting transgenic lines (AP3 >  > AtMYB115, AP3 >  > AtMYB118, PI >  > AtMYB115, and PI >  > AtMYB118) developed short, pale green petals and sterile stamens. The green petals exhibited reduced expression of STAY-GREEN 1, which encodes Mg-dechelatase, a key enzyme involved in chlorophyll degradation, suggesting that the green-petal phenotype results from impaired chlorophyll breakdown.</p><p><strong>Conclusion: </strong>These findings demonstrate that the ectopic expression of AtMYB115 and AtMYB118 induces green tissue development in non-green organs of Arabidopsis.</p>","PeriodicalId":12675,"journal":{"name":"Genes & genomics","volume":" ","pages":"587-597"},"PeriodicalIF":1.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143729574","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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