Biochemical Genetics最新文献_第5页

Association of Silent Variant p.17Pro = SNP in the LHX4 Gene with Litter Size in Awassi Sheep. 阿瓦西羊LHX4基因沉默变异p.17Pro = SNP与产仔数的关系

IF 1.6 4区生物学

Biochemical Genetics Pub Date : 2025-08-09 DOI: 10.1007/s10528-025-11223-y

Tahreer M Al-Thuwaini, Ahmed H Alkhammas, Fadhil A Rhadi, Alaa H Kadhim

{"title":"Association of Silent Variant p.17Pro = SNP in the LHX4 Gene with Litter Size in Awassi Sheep.","authors":"Tahreer M Al-Thuwaini, Ahmed H Alkhammas, Fadhil A Rhadi, Alaa H Kadhim","doi":"10.1007/s10528-025-11223-y","DOIUrl":"https://doi.org/10.1007/s10528-025-11223-y","url":null,"abstract":"LIM homeobox transcription factor 4 (LHX4) is one of the genes involved in sheep reproduction. Consequently, this study investigated whether the LHX4 gene affects the litter size of ewes. Genomic DNA extraction was performed on 123 ewes with singleton lambs and 109 ewes with twins. Using polymerase chain reaction (PCR), fragments of 207, 256, 257, 325, and 377 bp were amplified from exons 1, 2, 3, 5, and 6 of the LHX4 gene. Genetic analysis of the amplified locus of 207 bp revealed three genotypes. An analysis of the sequence revealed a novel mutation in exon 1: p.17Pro = SNP. Statistical analysis showed that the p.17Pro = SNP was associated with reproductive characteristics (P ≤ 0.01). Ewes carrying the GG genotype had significantly lower live body weight, litter sizes, twinning rates, lambing rates, and more lambing days than ewes with AG and AA genotypes. Lambs produced by GG genotype ewes were fewer than those produced by AA and AG genotype ewes. These results indicate that the p.17Pro = SNP negatively affects Awassi sheep's reproductive traits. Ewes carrying the GG genotype are less prolific and have lower litter sizes than those without the SNP.","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144803190","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

IGF1 is Reduced in Pregnancies with Preeclampsia and its Influence on Biological Behavior of Trophoblast Cells. 妊娠子痫前期IGF1降低及其对滋养细胞生物学行为的影响

IF 1.6 4区生物学

Biochemical Genetics Pub Date : 2025-08-07 DOI: 10.1007/s10528-025-11212-1

Yanping Qin, Shengping Meng, Chunyan Lyu, Sumei Wang

{"title":"IGF1 is Reduced in Pregnancies with Preeclampsia and its Influence on Biological Behavior of Trophoblast Cells.","authors":"Yanping Qin, Shengping Meng, Chunyan Lyu, Sumei Wang","doi":"10.1007/s10528-025-11212-1","DOIUrl":"https://doi.org/10.1007/s10528-025-11212-1","url":null,"abstract":"Preeclampsia (PE) is a serious pregnancy complication characterized by impaired trophoblast function. Insulin-like growth factor-1 (IGF1) is a peptide hormone that exhibits metabolic effects similar to insulin, modulating diverse physiological processes such as cellular proliferation, differentiation, motility, survival, and gene expression regulation. The objective of this study was to investigate the expression level and biological function of IGF1 in PE. The expression level of the IGF1 was quantified by quantitative real-time polymerase chain reaction (RT-qPCR). Functional phenotypes in IGF1-regulated HTR8/SVneo cells were assessed; cell proliferation, migration, invasion, cell cycle, and apoptosis were determined by CCK8 assays, wound healing assays, Transwell assays, and flow cytometry, respectively. Compared to normal pregnancy, preeclamptic placental tissues exhibited significantly downregulated IGF1 expression levels. Functional analyses revealed that IGF1 knockdown suppressed proliferation, migration, and invasion in HTR-8/SVneo cells, whereas IGF1 upregulation enhanced these functions. Both IGF1 knockdown and overexpression were performed without influencing the cell cycle or inducing apoptosis. These findings indicate that IGF1 serves as a critical mediator of trophoblast proliferation, migration, and invasion, contributing to preeclampsia development, providing novel insights of PE pathogenesis.","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144797808","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

Protective Role of Erzhi Pills in H₂O₂-Induced Oxidative Stress, Inflammation, and Angiogenesis in ARPE-19 Cells. 二栀丸对h2o2诱导的ARPE-19细胞氧化应激、炎症和血管生成的保护作用

IF 1.6 4区生物学

Biochemical Genetics Pub Date : 2025-08-07 DOI: 10.1007/s10528-025-11214-z

Yinyin Ding, Yue Dong, Wei Wei

{"title":"Protective Role of Erzhi Pills in H2O2-Induced Oxidative Stress, Inflammation, and Angiogenesis in ARPE-19 Cells.","authors":"Yinyin Ding, Yue Dong, Wei Wei","doi":"10.1007/s10528-025-11214-z","DOIUrl":"https://doi.org/10.1007/s10528-025-11214-z","url":null,"abstract":"This research was purposed to explore the role and mechanism of Erzhi pills (EZP) in age-related macular degeneration (AMD). TCSMP, PubChem, SwissTargetPrediction, and TargetNet databases were utilized to identify the active ingredients and targets of EZP, while disease targets were obtained from the DISEASES and DisGeNET databases. All identified targets were standardized using the UniProt platform. Overlapping targets between the drug and disease were determined using the Jvenn tool, and these targets were subsequently imported into the STRING database for network analysis. Enrichment analyses were conducted using the gProfiler web tool. The hub gene network was constructed utilizing Cytoscape software. Molecular docking studies were performed to assess the interactions between key components and their respective targets. A total of 16 active ingredients and 310 targets of EZP were identified, with 46 targets overlapping with disease-related targets, which implicated pathways involving inflammatory response, angiogenesis, and HIF-1α signaling. The top five hub genes identified were KDR, STAT3, mTOR, ESR1, and HIF1A. In vitro experiments, the CCK-8 assay, DCFH-DA staining, ELISA, tube formation assay, RT-qPCR, and Western blot analysis were conducted to evaluate the cellular biological behaviors and protein expression levels. The results showed that EZP could reduce H2O2-induced ROS accumulation, proinflammatory cytokine release, and promote angiogenesis. EZP inactivated HIF-1α pathway. EZP might target HIF-1α pathway to suppress oxidative stress, inflammation, and angiogenesis in H2O2-exposed ARPE-19 cells.","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144797809","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

Assessment of Pediatric Hypertriglyceridemia Etiology: Insights from Next-Generation Sequencing Panels and Identification of Novel Variants. 儿童高甘油三酯血症病因评估：来自下一代测序小组和新变体鉴定的见解。

IF 1.6 4区生物学

Biochemical Genetics Pub Date : 2025-08-07 DOI: 10.1007/s10528-025-11209-w

Ozlem Anlas, Fatma Derya Bulut

{"title":"Assessment of Pediatric Hypertriglyceridemia Etiology: Insights from Next-Generation Sequencing Panels and Identification of Novel Variants.","authors":"Ozlem Anlas, Fatma Derya Bulut","doi":"10.1007/s10528-025-11209-w","DOIUrl":"https://doi.org/10.1007/s10528-025-11209-w","url":null,"abstract":"Hypertriglyceridemia is mostly associated with secondary conditions in children but can also result from monogenic disorders. The most prevalent genes identified as the underlying reason for impaired clearance of triglycerides from plasma by genome-wide association studies are the LPL, APOC2, APOA5, LMF1, APOE and GPIHBP1 genes. In this study, 26 pediatric patients with primary hypertriglyceridemia, 12 of whom were severe, were screened for monogenic causes via a next-generation sequencing panel that included 25 genes, namely, ABCA1, ABCG5, ABCG8, ANGPTL3, APOA1, APOA5, APOB, APOC2, APOC3, APOE, CETP, GPD1, GPIHBP1, LCAT, LDLR, LDLRAP1, LIPA, LIPC, LMF1, LPL, MTTP, NPC1L1, OSBPL5, PCSK9 and SAR1B. Additional findings, such as positive family history, hepatomegaly, splenomegaly, history of acute pancreatitis, hepatosteatosis, and atherosclerotic cardiovascular disease, were recorded. Twenty different variants, 16 of which were novel, were detected. Among these, six of the eight clinically significant mutations detected in the LPL, GPD1, GPIHBP1, APOC2, and LIPC genes were novel mutations. At least one variant was identified in 17 of 26 patients (65.4%), whereas no variants were detected in 9 patients (34.6%). Clinically significant variants that could explain the clinical findings were detected in 7 (58.3%) of the 12 patients with severe hypertriglyceridemia. In 4 out of the 6 patients with a familial history of hypertriglyceridemia, we identified pathogenic variants in the GPD1, LIPC, LPL and APOC2 genes, which are associated with hypertriglyceridemia. Targeting gene panels for suspected monogenic hypertriglyceridemia is a promising way to identify the underlying etiology, which enables genetic counseling and family screening to identify new patients and provides a personalized treatment approach.","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144793185","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

Hsa_circ_0013729 Promotes Gastric Cancer Progression by Regulating MEF2D in ceRNA- and RBP- Dependent Manners. Hsa_circ_0013729通过调节MEF2D以依赖ceRNA和RBP的方式促进胃癌进展。

IF 1.6 4区生物学

Biochemical Genetics Pub Date : 2025-08-06 DOI: 10.1007/s10528-025-11216-x

Huazhi Li, Shaofei Chen, Yangqing Zhong, Lingjia Meng

{"title":"Hsa_circ_0013729 Promotes Gastric Cancer Progression by Regulating MEF2D in ceRNA- and RBP- Dependent Manners.","authors":"Huazhi Li, Shaofei Chen, Yangqing Zhong, Lingjia Meng","doi":"10.1007/s10528-025-11216-x","DOIUrl":"https://doi.org/10.1007/s10528-025-11216-x","url":null,"abstract":"Circular RNAs (circRNAs) are emerging as major regulatory factors in gastric cancer progression. Here, in addition to the regulatory role of hsa_circ_0013729, we also evaluated its biomarker potential in gastric cancer. RNA-Seq profiles were obtained from GSE194384 and GSE184882. 116 gastric cancer specimens and adjacent para- tumor gastric tissues were analyzed for the expression of hsa_circ_0013729. The functional (proliferative, migratory, and invasive) significance of hsa_circ_0013729 was evaluated by cell experiments. The competing theories of endogenous RNAs and RNA-binding proteins were used to explore the underlying mechanism. Analyses of GSE194384 and GSE184882 identified hsa_circ_0013729 as a dysregulated circRNA in gastric cancer. The quantification of hsa_circ_0013729 in our patient cohort revealed its upregulation, diagnostic significance (ROC-AUC = 0.94, 95% confidence interval: 0.9149 to 0.9718; p < 0.0001), and prognostic value with a hazard ratio of 2.65 in gastric cancer. Hsa_circ_0013729 was identified as a potential driver in gastric cancer cell proliferation, migration, and invasion. Hsa_circ_0013729 acted as a ceRNA for miR-361-3p and interfered with the binding between miR-361-3p and MEF2D. Hsa_circ_0013729 interacted with HNRNPIL1 to stabilize MEF2D mRNA.Hsa_circ_0013729 may promote gastric cancer via the miR-361-3p/MEF2D axis and HNRNPUL1/MEF2D axis, showing potential as a biomarker and therapeutic target.","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144788011","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

A Novel Missense Mutation in the FGF3 Gene of a Chinese Patient with LAMM Syndrome. 一例中国LAMM综合征患者FGF3基因的新错义突变

IF 1.6 4区生物学

Biochemical Genetics Pub Date : 2025-08-05 DOI: 10.1007/s10528-025-11197-x

Kangjia Zhang, Yong Zhang, Weijing Wu, Shu Yang, Huaping Xie, Jiaxin Liang, Xiaoying Zheng, Ruosha Lai

{"title":"A Novel Missense Mutation in the FGF3 Gene of a Chinese Patient with LAMM Syndrome.","authors":"Kangjia Zhang, Yong Zhang, Weijing Wu, Shu Yang, Huaping Xie, Jiaxin Liang, Xiaoying Zheng, Ruosha Lai","doi":"10.1007/s10528-025-11197-x","DOIUrl":"https://doi.org/10.1007/s10528-025-11197-x","url":null,"abstract":"Labyrinthine aplasia, type I microtia and microdontia (LAMM) syndrome, a rare autosomal recessive disease, is characterized by labyrinthine aplasia, microtia, and microdontia initially described in 2007 by Tekin. It is evident that the syndrome is associated with FGF3, and several mutations within the FGF3 gene have been reported in individuals with LAMM syndrome. We have identified a novel mutation (c.155C>G,p.Thr52Arg) which has never been reported. Furthermore, the pathogenicity of the new mutation has not yet been tested in human or zebrafish models. We present a case of LAMM syndrome with cholesteatoma in a 5-year-old male with compound heterozygosity for FGF3 mutations, born to non-consanguineous parents. This report describes a novel mutation (c.155C>G,p.Thr52Arg) that has never been previously reported and (c.310C>T,p.Arg104Ter) that have been reported several times. We tested its pathogenicity by (1) detecting the stable inheritance of gene mutations of FGF3 (c.155C>G,p.Thr52Arg) in DNA, 3D domain, and species conservation and (2) injecting mRNA into zebrafish to observe potential anomalies. The novel case showed the presence of cholesteatoma that may expand the manifestation of LAMM syndrome. There were no mutation-related bands observed in PCR analysis for the inheritance of the mutation sites. The residue (Thr52) is evolutionarily conserved across species. Analysis of the 3D structure indicated variations in FGF3's structural surface, possibly associated with illness etiology. Injection of constructed mutant plasmid into zebrafish resulted in evident malformation. The present case is the first documented report of LAMM syndrome accompanied by cholesteatoma, unveiling a novel possible pathogenic mutation of FGF3. The presence of otitis media and cholesteatoma will expand the manifestations of LAMM syndrome. The novel mutation FGF3 (c.155C>G,p.Thr52Arg) may be pathogenic by disturbing the connection of ligand of FGF3 and receptor of FGFR3 in the ear during fetal.","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144783151","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

Gene Rearrangement in the Mitochondrial Genomes of the Sand Crabs Albunea symmysta (Anomura:Hippoidea) with Insights into Phylogenetic Relationships in the Anomura (Crustacea: Decapoda). 沙蟹Albunea symmysta （Anomura:Hippoidea）线粒体基因组的基因重排及对Anomura（甲壳纲：十足目）系统发育关系的认识。

IF 1.6 4区生物学

Biochemical Genetics Pub Date : 2025-08-02 DOI: 10.1007/s10528-025-11213-0

Bin Li, Jichun Li, Jie He, Suzhen Ran, Jianshe Zhang, Alexei V Chernyshev, Jiji Li, Yingying Ye

{"title":"Gene Rearrangement in the Mitochondrial Genomes of the Sand Crabs Albunea symmysta (Anomura:Hippoidea) with Insights into Phylogenetic Relationships in the Anomura (Crustacea: Decapoda).","authors":"Bin Li, Jichun Li, Jie He, Suzhen Ran, Jianshe Zhang, Alexei V Chernyshev, Jiji Li, Yingying Ye","doi":"10.1007/s10528-025-11213-0","DOIUrl":"https://doi.org/10.1007/s10528-025-11213-0","url":null,"abstract":"The complete mitochondrial genome of Albunea symmysta (Anomura: Hippoidea: Albuneidae) was sequenced and annotated, yielding a circular genome of 15,640 bp comprising 13 protein-coding genes (PCGs), 22 tRNAs, 2 rRNAs, and a control region (CR). Substantial gene rearrangements were detected in A. symmysta, including five major rearranged gene clusters, suggesting the involvement of tandem duplication-random loss, reversal, and transposition events. Phylogenetic relationships were reconstructed using nucleotide sequences of 13 PCGs from 55 Anomura species, and both Bayesian Inference (BI) and Maximum Likelihood (ML) analyses supported the monophyly of Hippoidea. Within Hippoidea, A. symmysta formed a robust clade with Stemonopa insignis, and the superfamily was resolved as ((Albuneidae + Hippidae) + Blepharipodidae). Gene rearrangement patterns provided additional support for the evolutionary placement of Hippoidea. In contrast, Paguroidea was polyphyletic and comprised three distinct clades: (1) monophyletic Lithodidae and paraphyletic Paguridae; (2) monophyletic Coenobitidae and paraphyletic Diogenidae; and (3) basal Pylochelidae. These results offer new insights into the mitochondrial gene order evolution of Hippoidea and reinforce the potential of mitochondrial gene rearrangement as a phylogenetic marker in Anomura.","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144768243","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

Cyclosporine A Modulates Neuroinflammation-Related Gene Expression Associated with Alzheimer's Disease in SH-SY5Y Neuronal Cell Line: Is Cyclosporine A Beneficial/Detrimental? 环孢素A调节SH-SY5Y神经元细胞系中与阿尔茨海默病相关的神经炎症相关基因表达：环孢素A是有益的还是有害的？

IF 1.6 4区生物学

Biochemical Genetics Pub Date : 2025-08-01 DOI: 10.1007/s10528-025-11210-3

Somayeh Pashaei, Ludmilla A Morozova-Roche, Zohreh Rahimi, Soheila Mohammadi, Ebrahim Barzegari, Sasan Shabani, Nader Salari, Reza Khodarahmi

{"title":"Cyclosporine A Modulates Neuroinflammation-Related Gene Expression Associated with Alzheimer's Disease in SH-SY5Y Neuronal Cell Line: Is Cyclosporine A Beneficial/Detrimental?","authors":"Somayeh Pashaei, Ludmilla A Morozova-Roche, Zohreh Rahimi, Soheila Mohammadi, Ebrahim Barzegari, Sasan Shabani, Nader Salari, Reza Khodarahmi","doi":"10.1007/s10528-025-11210-3","DOIUrl":"https://doi.org/10.1007/s10528-025-11210-3","url":null,"abstract":"Numerous investigations indicate that cyclosporine A (CsA) significantly influences the prevention or progression of Alzheimer's disease (AD) through various mechanisms. The precise pathways by which CsA, an inhibitor of calcineurin (CN) and peptidyl-prolyl isomerase A (PPIA), operates remain incompletely elucidated. In this study, we explored the effects of CsA, a widely utilized immunosuppressive agent, on the gene expression of various factors related to inflammation, cell adhesion, intercellular communication, and apoptosis in SH-SY5Y cells. We employed the semi-quantitative real-time PCR (RT-qPCR) method for gene expression analysis to assess these effects. Furthermore, network pharmacology was utilized to identify the potential targets of CsA and to further analyze. Our results demonstrated that CsA enhances the mRNA levels of most factors examined, including IL1B, S100A9, CD147, TREM2, LRP1, MAPK1, MAPK14, GSK3B, Dynamin 1, Dynamin 3, NLRP3, NLRP1, CASPASE 3, CASPASE 1, AIFM1, and STAT3. At the same time, it suppresses the mRNA levels of PPIA, TLR2, TLR4, PYCARD, RAGE, and BCL2. The network pharmacology analysis revealed seven target genes overlapping our experimental findings (PPIA, S100A9, TLR4, STAT3, MAPK1, MAPK14, and BAX). Our results suggest that CsA modulates gene expression in SH-SY5Y cells, with the potential for either beneficial/ harmful effects on cellular function, depending on the specific roles of the assessed genes.","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144764335","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

N₇-Ended Walker PCR: An Efficient Genome-Walking Tool. N7-末端 Walker PCR：一种高效的基因组漫步工具

IF 2.1 4区生物学

Biochemical Genetics Pub Date : 2025-08-01 Epub Date: 2024-07-30 DOI: 10.1007/s10528-024-10896-1

Bingkun Tian, Hongjing Wu, Rongrong Wang, Hong Chen, Haixing Li

引用次数: 0

Identification and Verification of SLC6A15 Involved in Keloid via Bioinformatics Analysis and Machine Learning. 基于生物信息学分析和机器学习的瘢痕疙瘩相关SLC6A15的鉴定与验证。

IF 1.6 4区生物学

Biochemical Genetics Pub Date : 2025-07-31 DOI: 10.1007/s10528-025-11215-y

Haitao Lu, Shuping Yu, Yandong Niu, Haihua Qi, Liyuan Liu, Jiali Zhang, Baoqiang Li, Xinsuo Duan, Yunhua Zhao

{"title":"Identification and Verification of SLC6A15 Involved in Keloid via Bioinformatics Analysis and Machine Learning.","authors":"Haitao Lu, Shuping Yu, Yandong Niu, Haihua Qi, Liyuan Liu, Jiali Zhang, Baoqiang Li, Xinsuo Duan, Yunhua Zhao","doi":"10.1007/s10528-025-11215-y","DOIUrl":"https://doi.org/10.1007/s10528-025-11215-y","url":null,"abstract":"Keloid is a fibroproliferative disorder that poses a challenge in clinical management. This study aims to identify and functionally annotate differentially expressed genes (DEGs) in keloid and explore the potential role of SLC6A15. The data were obtained from GEO (GSE218922 and GSE7890), and the DEGs and module genes were obtained with Limma and WGCNA. KEGG and GO enrichment analysis, and machine learning algorithms (Random Forest, Boruta, and XGBoost) were conducted to explore the keloid-related key genes. Finally, qRT-PCR was carried out to detect SLC6A15 mRNA expression, and CCK-8 and flow cytometry were employed to assess cell proliferation and apoptosis. We obtained 147 DEGs between keloid fibroblasts and normal fibroblasts, and 193 DEGs between keloid stem cells and normal stem cells, followed by acquisition of 40 intersection DEGs. These intersection DEGs were mainly enriched in external encapsulating structure organization, extracellular matrix organization, and were closely related to cytoskeleton in muscle cells and arrhythmogenic right ventricular cardiomyopathy (ARVC). WGCNA analysis identified five modules, with the blue modules showing a significant negative correlation with keloid. Afterwards, three machine learning methods were applied to analyze DEGs in keloid, identifying SLC6A15 as the most important gene. Further validation demonstrated that SLC6A15 was lowly expressed in keloid tissues and fibroblasts, and SLC6A15 overexpression inhibited proliferation and facilitated apoptosis in keloid fibroblasts. This study identified SLC6A15 as a potential biomarker for keloid, providing new research clues for the treatment target of this disorder.","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144751958","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