GenePub Date : 2025-09-21DOI: 10.1016/j.gene.2025.149787
Qian Wang, Xuan Chen, Lianfu Ji, Jie Yin, Shiwei Yang
{"title":"Seizure-Syncope: Clinical implications from two Chinese CPVT children with two novel RYR2 variants","authors":"Qian Wang, Xuan Chen, Lianfu Ji, Jie Yin, Shiwei Yang","doi":"10.1016/j.gene.2025.149787","DOIUrl":"10.1016/j.gene.2025.149787","url":null,"abstract":"<div><h3>Background</h3><div>Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a hereditary arrhythmia syndrome that represents a leading cause of sudden cardiac death (SCD) in children. Among known associated genes, mutations in the ryanodine receptor 2 (<em>RYR2</em>) gene account for over 50% of CPVT patients.</div></div><div><h3>Results</h3><div>We identified two novel <em>RYR2</em> variants (p.F4889L and p.R2420M) in two Chinese pediatric patients who respectively presented with epileptic seizures and recurrent syncope, both subsequently diagnosed with CPVT through genetic testing. Specifically, the pathogenic variant p.F4889L may be strongly associated with malignant ventricular arrhythmias, which likely contributed to the SCD of patient 1.</div></div><div><h3>Conclusions</h3><div>These findings underscore the necessity of comprehensive clinical and genetic investigations in similar cases. Implantable cardioverter-defibrillator (ICD) implantation should be prioritized for CPVT patients to prevent SCD, particularly in pediatric populations.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"970 ","pages":"Article 149787"},"PeriodicalIF":2.4,"publicationDate":"2025-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145130591","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
GenePub Date : 2025-09-20DOI: 10.1016/j.gene.2025.149780
Takeshi Ohkawara, Michiru Ida-Eto, Masaaki Narita
{"title":"Maternal viral infection during pregnancy affects gene expression of offspring in pons and medulla oblongata after bacterial infection","authors":"Takeshi Ohkawara, Michiru Ida-Eto, Masaaki Narita","doi":"10.1016/j.gene.2025.149780","DOIUrl":"10.1016/j.gene.2025.149780","url":null,"abstract":"<div><div>Viral and bacterial infections during pregnancy are risk factors for autism spectrum disorder (ASD) and schizophrenia in offspring. Polyinosinic-polycytidylic acid (poly I:C) and lipopolysaccharide (LPS) are often used as models for viral and bacterial infections, respectively. Maternal immune activation (MIA) using poly I:C or LPS is an animal model for studying ASD and schizophrenia. MIA induces abnormal behaviors in offspring, including anxiety- and depression-like behaviors and reduced social interactions. Neonates are immunologically immature and therefore susceptible to infections. Thus, a two-hit immune activation model was created in which a pseudo-viral infection occurs during pregnancy, followed by a pseudo-bacterial infection during the neonatal period. In this study, we induced a pseudo-bacterial infection (LPS administration) on postnatal day (P) 11 in pups born to rats infected with a pseudo-virus (poly I:C administration) on gestational day 10. Offspring administered LPS on P 11 due to viral infection during pregnancy had a significantly higher mortality rate, at 76.9 %, compared to 24.0 % in the control group. Furthermore, blood biochemistry test results revealed that viral infections during pregnancy are associated with decreased levels of calcium, phosphate and triacylglycerol, and increased levels of lactate dehydrogenase and total bilirubin. Although abnormalities in the pons and medulla oblongata are suspected in both ASD and schizophrenia, few studies have examined gene expression in these regions. Therefore, we analyzed gene expression in these regions using DNA microarrays. The results showed that the expression of a number of genes changed by more than twofold. These results suggest that the abnormal gene expression in the pons and medulla oblongata affected by MIA may increase vulnerability to LPS.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"970 ","pages":"Article 149780"},"PeriodicalIF":2.4,"publicationDate":"2025-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145120165","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
GenePub Date : 2025-09-20Epub Date: 2025-08-08DOI: 10.1016/j.gene.2025.149719
Mariana da Silva Casa, Guillermo Giovambattista, Gabriella Bassi da Neves, Graziela Vieira Fonteque, Ellen Lara Miguel, Gianlucca Simão Nadal Ribeiro, Zigomar da Silva, Carla Ivane Ganz Vogel, Luiz Claudio Miletti, Shin-Nosuke Takeshima, Joandes Henrique Fonteque
{"title":"High variability of the BoLA-DRB3 gene in Crioula Lageana cattle.","authors":"Mariana da Silva Casa, Guillermo Giovambattista, Gabriella Bassi da Neves, Graziela Vieira Fonteque, Ellen Lara Miguel, Gianlucca Simão Nadal Ribeiro, Zigomar da Silva, Carla Ivane Ganz Vogel, Luiz Claudio Miletti, Shin-Nosuke Takeshima, Joandes Henrique Fonteque","doi":"10.1016/j.gene.2025.149719","DOIUrl":"10.1016/j.gene.2025.149719","url":null,"abstract":"<p><p>The Bovine Leukocyte Antigen (BoLA) is one of the most important immunologic and genetic components of susceptibility or resistance to disease for cattle. The BoLA-DR region contains the monomorphic locus BoLA-DRA and three BoLA-DRB loci, with the BoLA-DRB3 gene being the most expressed and polymorphic. Its high variability benefits immunological responses against several diseases. This study aims to assess the genetic diversity and variability of the BoLA-DRB3 gene in the Crioula Lageana cattle breed and compare it with other locally adapted and commercial cattle breeds. DNA samples from 208 animals were used to genotype the second exon of this gene using the PCR-SBT technique, to determine the variability of BoLA-DRB3 in this cattle breed. The raw DNA sequences were analyzed using the Assign 400ATF ver.1.0.2.41 software. Principal component analysis (PCA) evaluated the relationship between the Crioula Lageana breed and other cattle breeds. Forty-four alleles were identified in the Crioula Lageana breed, resulting in an expected heterozygosity of 0.95. Statistical analysis demonstrated that this population is in Hardy-Weinberg equilibrium. PCA revealed the proximity of this breed to other Criollo cattle breeds. Future studies are necessary to evaluate the role of the BoLA-DRB3 gene polymorphisms detected in the adaptation of the Crioula Lageana, as well as to determine the BoLA haplotypes present in this native breed. The Crioula Lageana breed, despite its small population, maintains a high variability for the BoLA-DRB3 gene, which contributes to the preservation of desirable immunological characteristics.</p>","PeriodicalId":12499,"journal":{"name":"Gene","volume":" ","pages":"149719"},"PeriodicalIF":2.4,"publicationDate":"2025-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144816321","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
GenePub Date : 2025-09-20DOI: 10.1016/j.gene.2025.149775
Shiyuan Liu , Tian Guan , Sihua Hong , Honglei Zhang , Wei Huang , Jiman Huang , Tailiang Wu , Dongmei Chen , Zeqi Bei , Pengzhan Dai , Wei Li , Haoyu Zeng , Xianjun Zhang
{"title":"The validity of immunotherapy against palate mucoepidermoid carcinoma based on data enrichment from oral cancer database","authors":"Shiyuan Liu , Tian Guan , Sihua Hong , Honglei Zhang , Wei Huang , Jiman Huang , Tailiang Wu , Dongmei Chen , Zeqi Bei , Pengzhan Dai , Wei Li , Haoyu Zeng , Xianjun Zhang","doi":"10.1016/j.gene.2025.149775","DOIUrl":"10.1016/j.gene.2025.149775","url":null,"abstract":"<div><h3>Background</h3><div>Palate mucoepidermoid carcinoma (PMEC) is an infrequent but tough subtype of oral carcinoma. Due to the lack of independent and comprehensive database for PMEC, the selection or screening of targeted protein on PMEC might be inaccurate. However, several databases of gene expression based on oral cancers having been constructed and uploaded. With the help of combining data enrichment and lab experiments, the target protein choosing against PMEC could be available.</div></div><div><h3>Method</h3><div>We firstly searched multiple databases, which being relevant with oral cancers, and compared the gene expression property between tumor tissues and normal tissues. From the overlapped differential genes, we chose several candidates. Meanwhile, we cultured different in vitro and ex vivo models for the targeted protein verification, to ascertain its effectiveness to the immunotherapy.</div></div><div><h3>Result</h3><div>744 genes were in the overlapped region from the 4 different databases. Among those genes, we further enriched 12 for the protein expression profiling. Then two target proteins, CD276 and CD6, were selected and constructed on the CAR-NK cells. Based on the killing efficiency analysis with cell line, tumor primary cells and organoids. The final targeted protein CD276 had been confirmed.</div></div><div><h3>Conclusion</h3><div>This research provided a new mentality that the target of immunotherapy on such infrequent carcinoma, PMEC, could still be determined with the data enrichment from its upper category. More importantly, the combination of database analysis with multi-model’s verification in lab helped the targeted protein selection more precisely.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"970 ","pages":"Article 149775"},"PeriodicalIF":2.4,"publicationDate":"2025-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145124434","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Neurodevelopmental trajectories and mis-splicing in Chinese patients caused by novel EFTUD2 mutations.","authors":"Hua Xie, Xiaoli Liu, Pengfei Luan, Jianhong Wang, Lin Wang, Xiaoli Chen","doi":"10.1016/j.gene.2025.149778","DOIUrl":"https://doi.org/10.1016/j.gene.2025.149778","url":null,"abstract":"","PeriodicalId":12499,"journal":{"name":"Gene","volume":" ","pages":"149778"},"PeriodicalIF":2.4,"publicationDate":"2025-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145124441","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Single-cell transcriptome sequencing (scRNA-seq) reveals dynamic gene expression trajectories regulating vascular cell senescence in Hylocereus undatus.","authors":"Jingya Wang, Dandan Fu, Yajing Tian, Mingyue Lv, Jingyu Xu, Tengfei Yu, Lili Lu, Xinyue Pang, Xin Li","doi":"10.1016/j.gene.2025.149718","DOIUrl":"10.1016/j.gene.2025.149718","url":null,"abstract":"<p><p>Fruit is highly susceptible to postharvest quality deterioration, and changes at the cellular level in the vascular bundle, a key hub for substance transport within the fruit, have a significant impact on the senescence process. Single-cell transcriptome sequencing (scRNA-seq) enables the precise analysis of gene expression dynamics in vascular cells across different stages of postharvest freshness and senescence. Utilizing scRNA-seq, this study developed a cellular atlas of the Hylocereus undatus (H. undatus) pericarp. Among the 13 cell clusters identified in the pericarp, vascular cells were predominantly localized in cluster 10, and the cell number within this cluster showed a significant decline with senescence. At a resolution of 0.2, two subpopulations of vascular cells were subdivided and identified, and their dynamics during the senescence process were analysed. In addition, through pseudo-timing trajectory analysis, two senescence hub regulators, HuCEP and HuSCPL48, were screened out by the pericarp vascular senescence gene regulatory network constructed by SCODE based on connectivity. In particular, genes related to mass transport, such as HuAAE3, and related to energy metabolism, such as HuNAD7, were significantly upregulated. At the same time, in the later stages of senescence, genes related to specific subsets of vascular cell activation protein degradation such as HuATG8CL and oxidative stress such as HuPMA4 were significantly up-regulated, leading to a stress response to fruit physiological decline. This study explored the dynamic changes in gene expression during vascular cell senescence.</p>","PeriodicalId":12499,"journal":{"name":"Gene","volume":" ","pages":"149718"},"PeriodicalIF":2.4,"publicationDate":"2025-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144798760","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
GenePub Date : 2025-09-20Epub Date: 2025-07-15DOI: 10.1016/j.gene.2025.149644
Yan Wang, Shiying Feng, Zifan Feng, Jie Yin, Yuzhi Zhang, Hezhao Zhang, Manyu Li, Jia Wu, Rui Zhang
{"title":"Identification Of ANGPT2, FLT3, IGF1, and SPP1 associated with glycolysis and PI3K/Akt signaling pathway in hepatocellular carcinoma.","authors":"Yan Wang, Shiying Feng, Zifan Feng, Jie Yin, Yuzhi Zhang, Hezhao Zhang, Manyu Li, Jia Wu, Rui Zhang","doi":"10.1016/j.gene.2025.149644","DOIUrl":"10.1016/j.gene.2025.149644","url":null,"abstract":"<p><strong>Background: </strong>Hepatocellular carcinoma (HCC) is a malignant hepatic neoplasm characterized by rapid cellular proliferation facilitated by aerobic glycolysis. Additionally, the PI3K/Akt pathway enhances angiogenesis, thereby promoting the growth of HCC cells. This study aimed to identify biomarkers associated with glycolysis and the PI3K/Akt signaling pathway in HCC.</p><p><strong>Method: </strong>Differential analysis was conducted on the Cancer Genome Atlas Liver Hepatocellular Carcinoma (TCGA-LIHC) dataset to identify differentially expressed genes (DEGs) between tumor and normal tissues. Overlapping DEGs, glycolysis-related genes (GMRGs), and PI3K/Akt pathway-related genes were analyzed to select candidate genes. Biomarkers were determined using ten algorithms within the protein-protein interaction (PPI) network, and their correlation with angiogenesis, autophagy, apoptosis, and Epithelial-Mesenchymal Transition(EMT) was examined. Biomarker expression levels were validated using Real-Time Quantitative Reverse Transcription PCR (RT-qPCR) and compared between HCC and normal tissues in the TCGA-LIHC and GSE14520 datasets.</p><p><strong>Results: </strong>A total of 7,476 DEGs were identified between tumor and normal tissues, from which 20 candidate genes were selected, leading to the identification of four biomarkers (ANGPT2, FLT3, IGF1, and SPP1) via PPI analysis. These biomarkers were positively correlated with angiogenesis, autophagy, apoptosis, and EMT. In both TCGA-LIHC and GSE14520 datasets, ANGPT2 and SPP1 exhibited higher expression levels in HCC tissues compared to normal tissues. The expression of these biomarkers was further validated through RT-qPCR.</p><p><strong>Conclusion: </strong>This study identified four biomarkers linked to glycolysis and the PI3K/Akt signaling pathway in HCC, providing a theoretical foundation for HCC treatment.</p>","PeriodicalId":12499,"journal":{"name":"Gene","volume":" ","pages":"149644"},"PeriodicalIF":2.4,"publicationDate":"2025-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144658965","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
GenePub Date : 2025-09-20DOI: 10.1016/j.gene.2025.149779
Yongxue Lyu , Wei Jin , Qi Jiang , Zhenghua Fei
{"title":"Clinical phenotype and genetic analysis of a family with 17q12 microdeletion syndrome","authors":"Yongxue Lyu , Wei Jin , Qi Jiang , Zhenghua Fei","doi":"10.1016/j.gene.2025.149779","DOIUrl":"10.1016/j.gene.2025.149779","url":null,"abstract":"","PeriodicalId":12499,"journal":{"name":"Gene","volume":"970 ","pages":"Article 149779"},"PeriodicalIF":2.4,"publicationDate":"2025-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145124449","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Long non-coding RNA HAGLR: The potential biomarker plays an important role in idiopathic pulmonary fibrosis.","authors":"Lijuan Hu, Ruoyu Liu, Siqi Han, Ruyue Zhang, Yun Zhou, Yongtong Cao","doi":"10.1016/j.gene.2025.149717","DOIUrl":"10.1016/j.gene.2025.149717","url":null,"abstract":"<p><strong>Background: </strong>Idiopathic pulmonary fibrosis (IPF), the most common interstitial lung disease, has a severe prognosis, and its diagnosis is difficult. Long non-coding RNAs (lncRNAs) play crucial roles in the mechanism of IPF and exhibit great potential as biomarkers. Past research found that HOXD antisense growth-associated lncRNA (HAGLR) was elevated in IPF. Therefore, this study assessed the diagnostic utility and function of HAGLR in IPF.</p><p><strong>Method: </strong>HAGLR expression was screened in the Gene Expression Omnibus datasets. Then, the serum specimens and clinical information of 66 patients with IPF, 93 patients with interstitial lung disease (ILD) without IPF, 61 patients with pneumonia, and 58 healthy controls were simultaneously collected. HAGLR expression was tested in all subjects and analyzed using receiver operating characteristic curves to verify the clinical utility of HAGLR. Then, the effects of HAGLR inhibition on fibrosis-related gene and protein expression in a cell model of fibrosis were investigated by quantitative reverse transcription-polymerase chain reaction and western blotting.</p><p><strong>Results: </strong>HAGLR expression was higher in patients with IPF than in healthy controls, patients with ILD without IPF, and patients with pneumonia. The ROC curve analysis illustrated that HAGLR can distinguish patients with IPF from healthy controls. A model combining clinical items (including age, gender, routine blood test, tumor biomarkers, and cytokines), with HAGLR displayed good clinical value, with an are under the curve of 0.994, sensitivity of 100.0% and specificity of 91.4%. Upon HAGLR inhibition, fibrosis proteins were downregulated.</p><p><strong>Conclusion: </strong>HAGLR has utility in the auxiliary diagnosis of IPF, as it can differentiate IPF from other conditions. HAGLR inhibition could alleviate fibrosis at the cellular level.</p>","PeriodicalId":12499,"journal":{"name":"Gene","volume":" ","pages":"149717"},"PeriodicalIF":2.4,"publicationDate":"2025-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144798759","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}