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Identification of N6-Methyladenosine-Associated lncRNAs and Analysis of Prognostic Signature in Breast Cancer. N6-甲基腺苷相关lncRNA的鉴定及乳腺癌预后特征的分析
IF 2.1 4区 生物学
Biochemical Genetics Pub Date : 2025-08-01 Epub Date: 2024-07-23 DOI: 10.1007/s10528-024-10889-0
Yun Gu, Min Xu, Wangfei Wu, Zhifang Ma, Weiguang Liu
{"title":"Identification of N6-Methyladenosine-Associated lncRNAs and Analysis of Prognostic Signature in Breast Cancer.","authors":"Yun Gu, Min Xu, Wangfei Wu, Zhifang Ma, Weiguang Liu","doi":"10.1007/s10528-024-10889-0","DOIUrl":"10.1007/s10528-024-10889-0","url":null,"abstract":"<p><p>Breast cancer represents the predominant malignant neoplasm in women, posing significant threats to both life and health. N6-methyladenosine (m6A) methylation, the most prevalent RNA modification, plays a crucial role in cancer development. This study aims to delineate the prognostic implications of m6A-associated long non-coding RNAs (m6AlncRNAs) and identify potential m6AlncRNA candidates as novel therapeutic targets for breast cancer. Through univariate Cox, Least Absolute Shrinkage and Selection Operator and multiple Cox regression analysis, m6AlncRNA was analyzed and a risk-prognosis model was constructed. Kaplan-Meier analysis, principal component analysis and nomogram were used to evaluate the risk model. Finally, we screened candidate lncRNAs and validated them in breast cancer cell lines. m6AlncRNAs were stratified into three subtypes, and their associations with survival outcomes and immune infiltrating capacities were systematically analyzed. Subsequently, breast cancer patients were stratified into high and low-risk groups based on median risk scores, revealing distinct clinical characteristics, tumor immunoinvasive profiles, tumor mutation burden, and survival probabilities. Additionally, a prognostic model was established, highlighting three promising candidate lncRNAs: ECE1-AS1, NDUFA6-DT, and COL4A2-AS1. This study investigated the prognostic implications of m6A-associated long non-coding RNAs (m6AlncRNAs) and developed a prognostic risk model to identify three potential m6AlncRNA candidates. These findings provide valuable insights into the potential application of these m6AlncRNAs in guiding immunotherapeutic strategies for breast cancer.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":"3533-3553"},"PeriodicalIF":2.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141747071","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
Platelet-Rich Plasma (PRP) Mitigates Kidney Dysfunction in Alloxan-Induced Diabetic Mice via Modulation of Renal Iron Regulatory Genes. 富血小板血浆 (PRP) 通过调节肾脏铁调节基因缓解阿脲诱导糖尿病小鼠的肾功能障碍
IF 2.1 4区 生物学
Biochemical Genetics Pub Date : 2025-08-01 Epub Date: 2024-07-26 DOI: 10.1007/s10528-024-10871-w
Humaira Allay Ali, Muddasir Hassan Abbasi, Tasleem Akhtar, Amin Arif, Mehreen Anjum, Sana Fatima, Rabia Mehmood, Adil Farooq, Nadeem Sheikh, Muhammad Babar Khawar
{"title":"Platelet-Rich Plasma (PRP) Mitigates Kidney Dysfunction in Alloxan-Induced Diabetic Mice via Modulation of Renal Iron Regulatory Genes.","authors":"Humaira Allay Ali, Muddasir Hassan Abbasi, Tasleem Akhtar, Amin Arif, Mehreen Anjum, Sana Fatima, Rabia Mehmood, Adil Farooq, Nadeem Sheikh, Muhammad Babar Khawar","doi":"10.1007/s10528-024-10871-w","DOIUrl":"10.1007/s10528-024-10871-w","url":null,"abstract":"<p><p>Kidney dysfunction is a prevalent complication of diabetes mellitus, contributing significantly to diabetes-related morbidity and mortality. We aim to explore whether platelet-rich plasma administration can modulate iron regulation mechanism within the kidney, thereby mitigating renal dysfunction associated with diabetes. Albino mice with an average body weight of 20 ± 5 g were randomly divided into five groups (N = 50; n = 10): Control Group, PRP Group, diabetic group (DG), treated group A (TA), and treated group B (TB). A single intraperitoneal dose of alloxan (160 mg/kg of body weight) was administered to mice in the DG and in both treated groups. Upon confirmation of diabetes, the DG was left untreated, while PRP treatment (0.5 ml/kg of body weight) was administered to the TA and TB groups for two and four weeks, respectively. Histological examinations of kidney tissues revealed notable signs of damage in DG, which were subsequently improved upon PRP treatment. Likewise, PRP treatment restored the changes in liver enzymes, oxidative stress biomarkers and serum electrolytes in both treated groups. Furthermore, there was an observed upregulation of iron regulatory genes, such as Renin, Epo, Hepc, Kim1, and Hfe, in the DG, accompanied by a downregulation of Tfr1 and Fpn; however, Dmt1 and Dcytb1 expression remained unaltered. Treatment with PRP restored the expression of iron regulatory genes in both treated groups. This study concluded that PRP treatment effectively restored the renal histochemistry and the expression of renal iron regulatory genes in an alloxan-induced diabetic mice model.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":"3600-3614"},"PeriodicalIF":2.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141764765","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
Impact of 5' Near Gene Variants of Mannose Binding Lectin (MBL2) on Breast Cancer Risk. 甘露糖结合凝集素 (MBL2) 5' 附近基因变异对乳腺癌风险的影响。
IF 2.1 4区 生物学
Biochemical Genetics Pub Date : 2025-08-01 Epub Date: 2024-07-26 DOI: 10.1007/s10528-024-10894-3
Shreya Singh Kashyap, Surmeet Kaur, Rajiv Kumar Devgan, Sumitoj Singh, Jatinder Singh, Manpreet Kaur
{"title":"Impact of 5' Near Gene Variants of Mannose Binding Lectin (MBL2) on Breast Cancer Risk.","authors":"Shreya Singh Kashyap, Surmeet Kaur, Rajiv Kumar Devgan, Sumitoj Singh, Jatinder Singh, Manpreet Kaur","doi":"10.1007/s10528-024-10894-3","DOIUrl":"10.1007/s10528-024-10894-3","url":null,"abstract":"<p><p>The immune system plays a bifaceted role in tumour development through modulation of inflammation. MBL binds to damage-associated molecular patterns and induces inflammation through the activation of complement pathway. Dysregulated inflammation plays a major role in breast cancer pathogenesis, thereby suggesting its contribution towards breast cancer risk. Literature asserts single-nucleotide polymorphisms (SNPs) modulating serum MBL levels. Therefore, studying MBL2 SNPs in breast cancer might provide valuable insight in the disease pathogenesis. The present case-control association study aimed to elucidate the association between MBL2 5' near gene SNPs and breast cancer risk. Breast cancer patients were recruited from Government Medical College, G.N.D. Hospital, Amritsar. The age- and gender-matched genetically unrelated healthy individuals, from adjoining regions, with no history of malignancy up to three generations were recruited as controls. The SNPs of MBL2 from the 5' near gene region with putative functional significance were selected based upon the in silico analysis and literature review. The genotypic, allelic and haplotype frequencies for the studied variants were assessed and compared in the study participants by ARMS-PCR and PCR-RFLP. No difference in allelic, genotypic and haplotype frequencies was reported for rs7096206, rs7084554 and rs11003125 in both the participant groups. rs7084554 (CC) was found to confer risk towards hormone receptor-positive breast cancer. An intermediate LD was observed between rs7084554 and rs11003125. The study reports association between MBL2 variant (rs7084554) and hormone receptor-positive breast cancer risk. Further research in this direction might validate the findings.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":"3615-3639"},"PeriodicalIF":2.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141764764","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
Establishment of the Diagnostic Signature of Ferroptosis Genes in Multiple Sclerosis. 建立多发性硬化症中铁蛋白沉积基因的诊断特征。
IF 2.1 4区 生物学
Biochemical Genetics Pub Date : 2025-08-01 Epub Date: 2024-06-17 DOI: 10.1007/s10528-024-10832-3
Yang Yang, Qianqian Bai, Fangfei Liu, Shumin Zhang, Wenchao Tang, Ling Liu, Zhehua Xing, Hao Wang, Chi Zhang, Yanhui Yang, Hua Fan
{"title":"Establishment of the Diagnostic Signature of Ferroptosis Genes in Multiple Sclerosis.","authors":"Yang Yang, Qianqian Bai, Fangfei Liu, Shumin Zhang, Wenchao Tang, Ling Liu, Zhehua Xing, Hao Wang, Chi Zhang, Yanhui Yang, Hua Fan","doi":"10.1007/s10528-024-10832-3","DOIUrl":"10.1007/s10528-024-10832-3","url":null,"abstract":"<p><p>Ferroptosis is a novel form of membrane-dependent cell death that differs from other cell death modalities such as necrosis, apoptosis, and autophagy. Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system primarily affecting brain and spinal cord neurons. Although the pathogenesis of these two conditions may seem unrelated, recent studies have indicated a connection between ferroptosis and multiple sclerosis. In fact, ferroptosis plays a significant role in the development of MS, as evidenced by the presence of elevated iron levels and iron metabolism abnormalities in the brains, spinal cords, and other neurons of MS patients. These abnormalities disrupt iron homeostasis within cells, leading to the occurrence of ferroptosis. However, there is currently a lack of research on the diagnostic value of ferroptosis-related genes in multiple sclerosis. In this study, we employed bioinformatics methods to identify ferroptosis-related genes (ATM, GSK3B, HMGCR, KLF2, MAPK1, NFE2L1, NRAS, PCBP1, PIK3CA, RPL8, VDAC3) associated with the diagnosis of multiple sclerosis and constructed a diagnostic model. The results demonstrated that the diagnostic model accurately identified the patients' condition. Subsequently, subgroup analysis was performed based on the expression levels of ferroptosis-related genes, dividing patients into high and low expression groups. The results showed differences in immune function and immune cell infiltration between the two groups. Our study not only confirms the correlation between ferroptosis and multiple sclerosis but also demonstrates the diagnostic value of ferroptosis-related genes in the disease. This provides guidance for clinical practice and direction for further mechanistic research.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":"3065-3094"},"PeriodicalIF":2.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12271295/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141417124","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Peripheral Blood miRNA Expression in Patients with Essential Hypertension in the Han Chinese Population in Hefei, China. 中国合肥汉族人群中重度高血压患者外周血 miRNA 的表达。
IF 2.1 4区 生物学
Biochemical Genetics Pub Date : 2025-08-01 Epub Date: 2024-06-21 DOI: 10.1007/s10528-024-10867-6
Bin Cheng, Ronglu Yang, Hui Xu, Li Wang, Nan Jiang, Tingting Song, Changwu Dong
{"title":"Peripheral Blood miRNA Expression in Patients with Essential Hypertension in the Han Chinese Population in Hefei, China.","authors":"Bin Cheng, Ronglu Yang, Hui Xu, Li Wang, Nan Jiang, Tingting Song, Changwu Dong","doi":"10.1007/s10528-024-10867-6","DOIUrl":"10.1007/s10528-024-10867-6","url":null,"abstract":"<p><p>Primary hypertension is a significant risk factor for cardiovascular diseases. However, the pathogenesis of primary hypertension involves multiple biological processes, including the nervous system, circulatory system, endocrine system, and more. Despite extensive research, there is no clear understanding of the regulatory mechanism underlying its pathogenesis. In recent years, miRNAs have gained attention as a regulatory factor capable of modulating the expression of related molecules through gene silencing. Therefore, exploring differentially expressed miRNAs in patients with essential hypertension (EH) may offer a novel approach for future diagnosis and treatment of EH. This study included a total of twenty Han Chinese population samples from Hefei, China. The samples consisted of 10 healthy individuals and 10 patients with EH. Statistical analysis was conducted to analyze the general information of the two-sample groups. High-throughput sequencing and base identification were performed to obtain the original sequencing sequences. These sequences were then annotated using various databases including Rfam, cDNA sequences, species repetitive sequences library, and miRBase database. The number of miRNA species contained in the samples was measured. Next, TPM values were calculated to determine the expression level of each miRNA. The bioinformatics of the differentiated miRNAs were analyzed using the OECloud tool, and RPM values were calculated. Furthermore, the reliability of the expression was analyzed by calculating the area under the Roc curve using the OECloud tools. Statistical analysis revealed no significant differences between the two samples in terms of age distribution, gender composition, smoking history, and alcohol consumption history (P > 0.05). However, there was a notable presence of family genetic history and high BMI in the EH population (P < 0.05). The sequencing results identified a total of 245 miRNAs, out of which 16 miRNAs exhibited differential expression. Among the highly expressed miRNAs were let-7d-5p, miR-101-3p, miR-122-5p, miR-122b-3p, miR-192-5p, and miR-6722-3p. On the other hand, the lowly expressed miRNAs included miR-103a-3p, miR-16-5p, miR-181a-2-3p, miR-200a-3p, miR-200b-3p, miR-200c-3p, miR-221-3p, miR-30d-5p, miR-342-5p, and miR-543. This study initially identified 16 miRNAs that are aberrantly expressed and function in various processes associated with the onset and progression of essential hypertension. These miRNAs have the potential to be targeted for future diagnosis and treatment of EH. However, further samples are required to provide additional support for this study.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":"3170-3186"},"PeriodicalIF":2.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12271248/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141436534","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Optimization of Total DNA Extraction from Dried Blood Samples. 优化从干燥血液样本中提取总 DNA 的方法。
IF 2.1 4区 生物学
Biochemical Genetics Pub Date : 2025-08-01 Epub Date: 2024-07-12 DOI: 10.1007/s10528-024-10882-7
Jeanne V Samsonova, Nikolay Yu Saushkin, Valery N Voronkova, Yuri A Stolpovsky, Aleksei K Piskunov
{"title":"Optimization of Total DNA Extraction from Dried Blood Samples.","authors":"Jeanne V Samsonova, Nikolay Yu Saushkin, Valery N Voronkova, Yuri A Stolpovsky, Aleksei K Piskunov","doi":"10.1007/s10528-024-10882-7","DOIUrl":"10.1007/s10528-024-10882-7","url":null,"abstract":"<p><p>While dried blood spots are a convenient source of genetic material, they are usually associated with a lower DNA yield than from a native sample. The study evaluated the DNA yield from dried blood samples prepared on glass fibre and cellulose membranes and investigated the reasons for the yield reduction. The extraction of total DNA from membrane-dried blood samples was optimized by spin-column extraction method. It was shown that preliminary short-term (20 min) solubilization of a dried matrix in an aqueous medium, followed by standard extraction protocols for the mixture of the eluate with membranes, provides the highest DNA yield. The yield of DNA from a glass fibre membrane was 40-50% lower compared to a native sample, but on average, two times higher than from a conventional cellulose membrane (filter paper). The reduction of DNA yield when using a dried sample was found to be due to partial retention of nucleic acids by the membrane material during the lysis stage.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":"3744-3757"},"PeriodicalIF":2.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141589315","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
XRCC2 knockdown effectively sensitizes esophageal cancer to albumin-paclitaxel in vitro and in vivo. 在体外和体内敲除 XRCC2 能有效提高食管癌对白蛋白-紫杉醇的敏感性。
IF 2.1 4区 生物学
Biochemical Genetics Pub Date : 2025-08-01 Epub Date: 2024-07-24 DOI: 10.1007/s10528-024-10885-4
Jia Xu, Xiaoyuan Liu, Zebo Huang, Tingxun Lu, Ying Zhang, Dongyan Cai, Xia Li
{"title":"XRCC2 knockdown effectively sensitizes esophageal cancer to albumin-paclitaxel in vitro and in vivo.","authors":"Jia Xu, Xiaoyuan Liu, Zebo Huang, Tingxun Lu, Ying Zhang, Dongyan Cai, Xia Li","doi":"10.1007/s10528-024-10885-4","DOIUrl":"10.1007/s10528-024-10885-4","url":null,"abstract":"<p><p>Esophageal cancer (EC), a prevalent malignancy, has a high incidence and mortality. X-ray repair cross complementing 2 (XRCC2) functions on DNA damage and repair that works the progression of various cancers. Nevertheless, the role and mechanism of XRCC2 remain unknown in EC. The XRCC2 expression was examined by reverse transcription quantitative polymerase chain reaction and western blot. The function of XRCC2 in EC were investigated through cell counting kit-8, colony formation, transwell, flow cytometry, chromatin immunoprecipitation, luciferase, and western blot experiments. Besides, the role of XRCC2 in EC was assessed by western blot and immunohistochemistry experiments after nude mice were injected with EC109 cells and treated with nab-paclitaxel. The XRCC2 expression was upregulated in EC. Knockdown of XRCC2 diminished cell viability, and the number of colonies, migration cells and invasion cells of KYSE150 and EC109 cells. Silencing of XRCC2 diminished the cell viability of both two cells with a lower IC50, whereas boosted the apoptosis rate of both cells with the treatment of albumin-paclitaxel. All these outcomes were reverse with the upregulation of XRCC2 in both two cells. Mechanically, XRCC2 was transcriptionally regulated by specificity protein 1 (SP1), and silencing of SP1 inhibited the cell growth of EC. In vivo, transfection of shXRCC2 with or without albumin-paclitaxel treatment both decreased the tumor size and weight, as well as the expression of XRCC2 and Ki-67 in xenografted mice. XRCC2 transcriptionally regulated by SP2 promoted proliferation, migration, invasion, and chemoresistance of EC cells.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":"3567-3583"},"PeriodicalIF":2.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141756470","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
Familial Episodic Pain Syndrome: A Japanese Family Harboring the Novel Variant c.2431C>T (p.Leu811Phe) in SCN11A. 家族性发作性疼痛综合征:一个携带 SCN11A 变异 c.2431C>T (p.Leu811Phe) 的日本家庭。
IF 2.1 4区 生物学
Biochemical Genetics Pub Date : 2025-08-01 Epub Date: 2024-07-25 DOI: 10.1007/s10528-024-10888-1
Chioko Nagao, Hiroko Okuda, Gert-Jan Bekker, Atsuko Noguchi, Tsutomu Takahashi, Akio Koizumi, Shohab Youssefian, Tohru Tezuka, Shinji Akioka
{"title":"Familial Episodic Pain Syndrome: A Japanese Family Harboring the Novel Variant c.2431C>T (p.Leu811Phe) in SCN11A.","authors":"Chioko Nagao, Hiroko Okuda, Gert-Jan Bekker, Atsuko Noguchi, Tsutomu Takahashi, Akio Koizumi, Shohab Youssefian, Tohru Tezuka, Shinji Akioka","doi":"10.1007/s10528-024-10888-1","DOIUrl":"10.1007/s10528-024-10888-1","url":null,"abstract":"<p><p>Familial episodic pain syndrome (FEPS) is an autosomal-dominant inherited disorder characterized by paroxysmal pain episodes. FEPS appears in early childhood, gradually disappearing with age, and pain episodes can be triggered by fatigue, bad weather, and cold temperatures. Several gain-of-function variants have been reported for SCN9A, SCN10A, or SCN11A, which encode the voltage-gated sodium channel α subunits Nav1.7, Nav1.8, and Nav1.9, respectively. In this study, we conducted genetic analysis in a four-generation Japanese pedigree. The proband was a 7-year-old girl, and her brother, sister, mother, and grandmother were also experiencing or had experienced pain episodes and were considered to be affected. The father was unaffected. Sequencing of SCN9A, SCN10A, and SCN11A in the proband revealed a novel heterozygous variant of SCN11A: g.38894937G>A (c.2431C>T, p.Leu811Phe). This variant was confirmed in other affected members but not in the unaffected father. The affected residue, Leu811, is located within the DII/S6 helix of Nav1.9 and is important for signal transduction from the voltage-sensing domain and pore opening. On the other hand, the c.2432T>C (p.Leu811Pro) variant is known to cause congenital insensitivity to pain (CIP). Molecular dynamics simulations showed that p.Leu811Phe increased the structural stability of Nav1.9 and prevented the necessary conformational changes, resulting in changes in the dynamics required for function. By contrast, CIP-related p.Leu811Pro destabilized Nav1.9. Thus, we speculate that p.Leu811Phe may lead to current leakage, while p.Leu811Pro can increase the current through Nav1.9.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":"3584-3599"},"PeriodicalIF":2.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141756469","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
CircFAM114A2 Suppresses Cell Proliferation, Migration, and Invasion of Colorectal Cancer Through Sponging miR-647 to Upregulate DAB2IP Expression. CircFAM114A2 通过海绵状 miR-647 上调 DAB2IP 表达,抑制结直肠癌细胞增殖、迁移和侵袭
IF 2.1 4区 生物学
Biochemical Genetics Pub Date : 2025-08-01 Epub Date: 2024-07-06 DOI: 10.1007/s10528-024-10870-x
Guanghao Huang, Dahua Sun, Xiaoli Hu, Qiushuang Wang
{"title":"CircFAM114A2 Suppresses Cell Proliferation, Migration, and Invasion of Colorectal Cancer Through Sponging miR-647 to Upregulate DAB2IP Expression.","authors":"Guanghao Huang, Dahua Sun, Xiaoli Hu, Qiushuang Wang","doi":"10.1007/s10528-024-10870-x","DOIUrl":"10.1007/s10528-024-10870-x","url":null,"abstract":"<p><strong>Background: </strong>Increasing evidence had proved that some circular RNA (circRNA) exerted critical roles in tumors progression by functioning as \"microRNAs (miRNAs) sponges\" to regulate their targeted genes.</p><p><strong>Methods: </strong>circFAM114A2 and miR-647 expression was measured in CRC tissues and cells by quantitative real-time polymerase chain reaction (qRT-PCR), and the prognostic value of circFAM114A2 evaluated by Kaplan-Meier survival curve. Subsequently, wounding healing and transwell assays were performed to assess cell proliferation, migration, and invasion. RNA pull-down and dual-luciferase reporter assays were used to confirm the interactions between circFAM114A2, miR-647, and DAB2IP.</p><p><strong>Results: </strong>CircFAM114A2 was notably downregulated in CRC tissues and cells, and low circFAM114A2 expression indicated the poor prognosis of CRC patients. Next, overexpression of circFAM114A2 suppressed CRC cells proliferation, migration, and invasion in vitro and impede CRC tumor growth in vivo. Mechanically, circFAM114A2 competitively bound to miR-647 and upregulated its target gene DAB2IP expression in CRC cells.</p><p><strong>Conclusion: </strong>Our results indicated that circFAM114A2/miR-647/DAP2IP axis played an important role in CRC progression, suggesting that circFAM114A2 might be a novel therapeutic target in patients with CRC.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":"3414-3427"},"PeriodicalIF":2.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141544332","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
TRIM8 Promotes Proliferation, Invasion, and Migration of Cervical Cancer Cells by Ubiquitinating and Degrading SOCS1. TRIM8 通过泛素化和降解 SOCS1 促进宫颈癌细胞的增殖、侵袭和迁移
IF 2.1 4区 生物学
Biochemical Genetics Pub Date : 2025-08-01 Epub Date: 2024-06-25 DOI: 10.1007/s10528-024-10865-8
Chunxiang Yu, Juan Wang, Yan Li
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