Avicenna journal of medical biotechnology最新文献

筛选
英文 中文
CYP21A2 Gene Analysis in Southern Iranian CAH Patients and a Brief Review of the Mutation Spectrum 伊朗南部 CAH 患者的 CYP21A2 基因分析及突变谱简述
Avicenna journal of medical biotechnology Pub Date : 2024-02-06 DOI: 10.18502/ajmb.v16i2.14864
Danial Zangene, Hossein Moravej, H. Ilkhanipoor, A. Amirhakimi, Zhila Afshar, M. Entezam
{"title":"CYP21A2 Gene Analysis in Southern Iranian CAH Patients and a Brief Review of the Mutation Spectrum","authors":"Danial Zangene, Hossein Moravej, H. Ilkhanipoor, A. Amirhakimi, Zhila Afshar, M. Entezam","doi":"10.18502/ajmb.v16i2.14864","DOIUrl":"https://doi.org/10.18502/ajmb.v16i2.14864","url":null,"abstract":"Background: CYP21A2 gene mutations are responsible for more than 95% of Congenital Adrenal Hyperplasia (CAH) disorders with autosomal recessive inheritance. Most of these pathogenic mutations originate from the CYP21A1P, a neighboring pseudogene with 98% homology, due to unequal crossing over or gene conversion events. Mutation identification of the gene could be beneficial for accurate diagnosis and outcome prediction. \u0000Methods: Twelve unrelated patients with CAH diagnosis were recruited for genetic counseling. To ensure distinct amplification of the CYP21A2 gene rather than its pseudogene, the complete sequence of the gene was amplified through two overlapping fragments by specific primers. The entire sequences were screened by direct Sanger sequencing using new sequencing primers. \u0000Results: Only two pathogenic point mutations were identified. The c.293-13C>G, also known as In2G, and the c.955C>T mutations were found in 37.5 and 33.3% of alleles, respectively. One patient showed homozygous gene deletion. We also reviewed recent reports on CYP21A2 gene mutations in Iran. \u0000Conclusion: Evaluating the ethnicity-specific gene mutation data is significant for populations with diverse ethnic groups including the Iranian population. Although several common mutations have been reported as causative mutations among CAH patients, identifying only two common point mutations in Fars province would help prioritize exon sequencing and reduce the cost and time of genotyping.","PeriodicalId":8669,"journal":{"name":"Avicenna journal of medical biotechnology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139800042","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Factor VIII as a Novel Biomarker for Diagnosis, Prognosis, and Therapy Prediction in Human Cancer and Other Disorders 因子 VIII 是人类癌症和其他疾病诊断、预后和治疗预测的新型生物标记物
Avicenna journal of medical biotechnology Pub Date : 2024-02-06 DOI: 10.18502/ajmb.v16i2.14857
Sheyda Khalilian, Zahra Mohajer, S. Ghafouri-Fard
{"title":"Factor VIII as a Novel Biomarker for Diagnosis, Prognosis, and Therapy Prediction in Human Cancer and Other Disorders","authors":"Sheyda Khalilian, Zahra Mohajer, S. Ghafouri-Fard","doi":"10.18502/ajmb.v16i2.14857","DOIUrl":"https://doi.org/10.18502/ajmb.v16i2.14857","url":null,"abstract":"Coagulation factor VIII (FVIII) is an essential cofactor in the coagulation cascade, encoded by the F8 gene on the long arm of chromosome X (Xq28). FVIII is normally circulated in complex with Von Willebrand factor (VWF) and has relevant emerging extracoagulative functions. Dysregulation of FVIII is associated with tumor progression, and could be used as a novel biomarker for tumor screening and monitoring. In breast cancer, bladder cancer, colorectal carcinoma, esophageal carcinoma, hepatocellular carcinoma and lung cancer, F8 is regarded as an oncogene. In coronary heart disease, hemophilia A and liver disease, F8 dysregulation has been recognized as a potential biomarker for disease diagnosis and prognosis. However, the basis of these differential expression levels remains to be understood. In this review, which is a mixture of literature review and bioinformatics analysis we described the biological functions and characteristics of FVIII, and also its expression level in non-malignant disorders and various cancers. ","PeriodicalId":8669,"journal":{"name":"Avicenna journal of medical biotechnology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139800165","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Protective Effect of N-acetylcysteine against Deltamethrin-Induced Hepatotoxicity in Mice N- 乙酰半胱氨酸对溴氰菊酯诱导的小鼠肝毒性的保护作用
Avicenna journal of medical biotechnology Pub Date : 2024-02-06 DOI: 10.18502/ajmb.v16i2.14859
Ali Ameri, Alireza Rahmati, Shadi Soroushfar, Mehdi Lalehzari, Tahereh Dehghani, Hamed Haghi-Aminjan, Jebreil Shamseddin, Mahmoud Omidi
{"title":"The Protective Effect of N-acetylcysteine against Deltamethrin-Induced Hepatotoxicity in Mice","authors":"Ali Ameri, Alireza Rahmati, Shadi Soroushfar, Mehdi Lalehzari, Tahereh Dehghani, Hamed Haghi-Aminjan, Jebreil Shamseddin, Mahmoud Omidi","doi":"10.18502/ajmb.v16i2.14859","DOIUrl":"https://doi.org/10.18502/ajmb.v16i2.14859","url":null,"abstract":"Background: Exposure to pesticides is of concern to public health officials worldwide. Deltamethrin is a synthetic pyrethroid pesticide which is widely used in agriculture and veterinary medicine. Deltamethrin poisoning is always one of the concerns in medical centers due to the deltamethrin induced hepatotoxicity. This study evaluated the hepatoprotective effects of N-acetylcysteine (NAC) against deltamethrin induced hepatotoxicity in mice \u0000Methods: A total of 40 BALB/c male mice were randomly divided into four groups; the first group was used as a control (0.5 ml normal saline); Groups 2-4 were treated with NAC [160 mg/kg Body Weight (BW)], deltamethrin (50 mg/kg BW), and NAC plus deltamethrin. At 1 and 24 hr after treatment, the animals were sacrificed and blood and liver samples were obtained for analysis and the liver/body ration, hepatic enzymes as Aspartate aminotransferase (AST), Alanine Transaminase (ALT), Alkaline phosphatase (ALP), Lactate dehydrogenase (LDH), Glutathione (GSH) content and Reactive Oxygen Species (ROS) level were measured. For comparison between more than two experimental groups, one-way ANOVA following Tukey test was used by SPSS software. \u0000Results: The deltamethrin significantly increased AST, ALT, ALP, and the level of ROS level at the end of 1 and 24 hr after treatment; while the LDH level and GSH content were decreased. Mice in the deltamethrin treated group had a higher liver/body weight ratio than in other treated groups after 24 hr. On the other hand, NAC in combination with deltamethrin significantly reduced the activities of AST, ALT, ALP, and increased GSH levels. \u0000Conclusion: This study demonstrated that NAC has a hepatoprotective role against deltamethrin-induced toxicity.","PeriodicalId":8669,"journal":{"name":"Avicenna journal of medical biotechnology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139802361","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Protective Effect of Crocin on Rat Bone Marrow Mesenchymal Stem Cells Exposed to Aluminum Chloride as an Endocrine Disruptor 氯霉素对暴露于内分泌干扰物氯化铝的大鼠骨髓间充质干细胞的保护作用
Avicenna journal of medical biotechnology Pub Date : 2024-02-06 DOI: 10.18502/ajmb.v16i2.14858
Elaheh Amini, Zahra Baharvand, A. Niknejad, Yasaman Tabari, Sahel Shemshadi
{"title":"The Protective Effect of Crocin on Rat Bone Marrow Mesenchymal Stem Cells Exposed to Aluminum Chloride as an Endocrine Disruptor","authors":"Elaheh Amini, Zahra Baharvand, A. Niknejad, Yasaman Tabari, Sahel Shemshadi","doi":"10.18502/ajmb.v16i2.14858","DOIUrl":"https://doi.org/10.18502/ajmb.v16i2.14858","url":null,"abstract":"Background: Mesenchymal Stem Cells (MSCs) have the ability to self-renew and proliferate which gives them healing properties in various tissues. Aluminium chloride (AlCl3) is a chemical compound with harmful effects on health; oxidative stress caused by Aluminium has been reported previously. Crocin, a major component of Crocus sativus (saffron), has antioxidant properties and has shown therapeutic potential. Researchers have been looking for ways to reduce the harmful effects of AlCl3. \u0000Methods: To investigate whether crocin can reduce AlCl3 cytotoxicity, rat Bone Marrow Mesenchymal Stem Cells (BM-MSCs) were isolated, cultured and divided into four experimental groups. The first group was the control, which was untreated cells. The second and third groups were treated with crocin (50, 100, 250, 500 µM) and AlCl3 (20, 25, 30 mM) for 24 hr. The fourth group was pre-treated with crocin (250, 500 µM) for 24 hr and then treated with AlCl3 (20 mM) overnight. Cytotoxicity was assessed using the MTT assay. Mineralization was evaluated by alizarin red staining. Sox-2 and E-cadherin expression were measured using real-time PCR. \u0000Results: The results showed that AlCl3 caused cytotoxicity on BM-MSCs and decreased the mRNA expression of Sox-2 and E-cadherin, which are important for the maintenance of self-renewal and proliferation of BM-MSCs. In contrast, crocin protected the self-renewal characteristic of BM-MSCs by increasing Sox-2 expression and also preserved the proliferative effects on BM-MSCs by upregulating E-cadherin expression (***p≤0.001). \u0000Conclusion: Overall, the study suggests that crocin can protect BM-MSCs from AlCl3-induced cytotoxicity by upregulate Sox-2 expression and E-cadherin expression. This suggests that crocin may be a potential therapeutic agent for the treatment of AlCl3-induced toxicity. \u0000 ","PeriodicalId":8669,"journal":{"name":"Avicenna journal of medical biotechnology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139862126","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Protective Effect of Crocin on Rat Bone Marrow Mesenchymal Stem Cells Exposed to Aluminum Chloride as an Endocrine Disruptor 氯霉素对暴露于内分泌干扰物氯化铝的大鼠骨髓间充质干细胞的保护作用
Avicenna journal of medical biotechnology Pub Date : 2024-02-06 DOI: 10.18502/ajmb.v16i2.14858
Elaheh Amini, Zahra Baharvand, A. Niknejad, Yasaman Tabari, Sahel Shemshadi
{"title":"The Protective Effect of Crocin on Rat Bone Marrow Mesenchymal Stem Cells Exposed to Aluminum Chloride as an Endocrine Disruptor","authors":"Elaheh Amini, Zahra Baharvand, A. Niknejad, Yasaman Tabari, Sahel Shemshadi","doi":"10.18502/ajmb.v16i2.14858","DOIUrl":"https://doi.org/10.18502/ajmb.v16i2.14858","url":null,"abstract":"Background: Mesenchymal Stem Cells (MSCs) have the ability to self-renew and proliferate which gives them healing properties in various tissues. Aluminium chloride (AlCl3) is a chemical compound with harmful effects on health; oxidative stress caused by Aluminium has been reported previously. Crocin, a major component of Crocus sativus (saffron), has antioxidant properties and has shown therapeutic potential. Researchers have been looking for ways to reduce the harmful effects of AlCl3. \u0000Methods: To investigate whether crocin can reduce AlCl3 cytotoxicity, rat Bone Marrow Mesenchymal Stem Cells (BM-MSCs) were isolated, cultured and divided into four experimental groups. The first group was the control, which was untreated cells. The second and third groups were treated with crocin (50, 100, 250, 500 µM) and AlCl3 (20, 25, 30 mM) for 24 hr. The fourth group was pre-treated with crocin (250, 500 µM) for 24 hr and then treated with AlCl3 (20 mM) overnight. Cytotoxicity was assessed using the MTT assay. Mineralization was evaluated by alizarin red staining. Sox-2 and E-cadherin expression were measured using real-time PCR. \u0000Results: The results showed that AlCl3 caused cytotoxicity on BM-MSCs and decreased the mRNA expression of Sox-2 and E-cadherin, which are important for the maintenance of self-renewal and proliferation of BM-MSCs. In contrast, crocin protected the self-renewal characteristic of BM-MSCs by increasing Sox-2 expression and also preserved the proliferative effects on BM-MSCs by upregulating E-cadherin expression (***p≤0.001). \u0000Conclusion: Overall, the study suggests that crocin can protect BM-MSCs from AlCl3-induced cytotoxicity by upregulate Sox-2 expression and E-cadherin expression. This suggests that crocin may be a potential therapeutic agent for the treatment of AlCl3-induced toxicity. \u0000 ","PeriodicalId":8669,"journal":{"name":"Avicenna journal of medical biotechnology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139802058","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Simple Determination of Bosentan in Plasma Samples by Reversed-Phase High-Performance Liquid Chromatography 用反相高效液相色谱法简单测定血浆样品中的波生坦
Avicenna journal of medical biotechnology Pub Date : 2024-02-06 DOI: 10.18502/ajmb.v16i2.14861
Naser Abbasi
{"title":"Simple Determination of Bosentan in Plasma Samples by Reversed-Phase High-Performance Liquid Chromatography","authors":"Naser Abbasi","doi":"10.18502/ajmb.v16i2.14861","DOIUrl":"https://doi.org/10.18502/ajmb.v16i2.14861","url":null,"abstract":"Background: In order to measure the plasma levels of Losartan and Bosentan, a sensitive Reverse Phase-High Performance Liquid Chromatography (RP-HPLC) technique was developed. \u0000Methods: To compare bioavailability, the Area Under the Curve (AUC), peak plasma concentration (Cmax), and time to Cmax (Tmax) were employed. The standard curve (150-2400 ng/ml) was linear (R2=0.999), relative errors were between 2.4 to 10.05% and the coefficient of variation (CV%) ranged from 1.52 to 10.88. A single dosage (test and reference) was used for the in vivo investigation, which involved 16 healthy individuals. \u0000Results: The AUC0-48, AUC0-, Cmax, and Tmax of the test and reference had no statistically significant differences. The Cmax and 95% confidence intervals of the ratio of Cmax of the two formulations were 0.93-0.96 and 97.6-135%, respectively. \u0000Conclusion: Therefore, it was established that generic Bosentan was equivalent to Bosentan from Actelion and that both medications could be regarded as equally effective in clinical settings. The blood level of Bosentan could be measured using this straightforward procedure in all hospital laboratories. \u0000 ","PeriodicalId":8669,"journal":{"name":"Avicenna journal of medical biotechnology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139860300","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Simple Determination of Bosentan in Plasma Samples by Reversed-Phase High-Performance Liquid Chromatography 用反相高效液相色谱法简单测定血浆样品中的波生坦
Avicenna journal of medical biotechnology Pub Date : 2024-02-06 DOI: 10.18502/ajmb.v16i2.14861
Naser Abbasi
{"title":"Simple Determination of Bosentan in Plasma Samples by Reversed-Phase High-Performance Liquid Chromatography","authors":"Naser Abbasi","doi":"10.18502/ajmb.v16i2.14861","DOIUrl":"https://doi.org/10.18502/ajmb.v16i2.14861","url":null,"abstract":"Background: In order to measure the plasma levels of Losartan and Bosentan, a sensitive Reverse Phase-High Performance Liquid Chromatography (RP-HPLC) technique was developed. \u0000Methods: To compare bioavailability, the Area Under the Curve (AUC), peak plasma concentration (Cmax), and time to Cmax (Tmax) were employed. The standard curve (150-2400 ng/ml) was linear (R2=0.999), relative errors were between 2.4 to 10.05% and the coefficient of variation (CV%) ranged from 1.52 to 10.88. A single dosage (test and reference) was used for the in vivo investigation, which involved 16 healthy individuals. \u0000Results: The AUC0-48, AUC0-, Cmax, and Tmax of the test and reference had no statistically significant differences. The Cmax and 95% confidence intervals of the ratio of Cmax of the two formulations were 0.93-0.96 and 97.6-135%, respectively. \u0000Conclusion: Therefore, it was established that generic Bosentan was equivalent to Bosentan from Actelion and that both medications could be regarded as equally effective in clinical settings. The blood level of Bosentan could be measured using this straightforward procedure in all hospital laboratories. \u0000 ","PeriodicalId":8669,"journal":{"name":"Avicenna journal of medical biotechnology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139800311","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Factor VIII as a Novel Biomarker for Diagnosis, Prognosis, and Therapy Prediction in Human Cancer and Other Disorders 因子 VIII 是人类癌症和其他疾病诊断、预后和治疗预测的新型生物标记物
Avicenna journal of medical biotechnology Pub Date : 2024-02-06 DOI: 10.18502/ajmb.v16i2.14857
Sheyda Khalilian, Zahra Mohajer, S. Ghafouri-Fard
{"title":"Factor VIII as a Novel Biomarker for Diagnosis, Prognosis, and Therapy Prediction in Human Cancer and Other Disorders","authors":"Sheyda Khalilian, Zahra Mohajer, S. Ghafouri-Fard","doi":"10.18502/ajmb.v16i2.14857","DOIUrl":"https://doi.org/10.18502/ajmb.v16i2.14857","url":null,"abstract":"Coagulation factor VIII (FVIII) is an essential cofactor in the coagulation cascade, encoded by the F8 gene on the long arm of chromosome X (Xq28). FVIII is normally circulated in complex with Von Willebrand factor (VWF) and has relevant emerging extracoagulative functions. Dysregulation of FVIII is associated with tumor progression, and could be used as a novel biomarker for tumor screening and monitoring. In breast cancer, bladder cancer, colorectal carcinoma, esophageal carcinoma, hepatocellular carcinoma and lung cancer, F8 is regarded as an oncogene. In coronary heart disease, hemophilia A and liver disease, F8 dysregulation has been recognized as a potential biomarker for disease diagnosis and prognosis. However, the basis of these differential expression levels remains to be understood. In this review, which is a mixture of literature review and bioinformatics analysis we described the biological functions and characteristics of FVIII, and also its expression level in non-malignant disorders and various cancers. ","PeriodicalId":8669,"journal":{"name":"Avicenna journal of medical biotechnology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139860019","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Investigating the Effects of HMGB1 Overexpression on Colorectal Cancer Cell Migration via Oncolytic Herpes simplex Virus Type 1 (oHSV-1) 通过肿瘤溶解性单纯疱疹病毒 1 型(oHSV-1)研究 HMGB1 过表达对结直肠癌细胞迁移的影响
Avicenna journal of medical biotechnology Pub Date : 2024-02-06 DOI: 10.18502/ajmb.v16i2.14863
S. Shayan, A. Arashkia, G. Bahramali, K. Azadmanesh
{"title":"Investigating the Effects of HMGB1 Overexpression on Colorectal Cancer Cell Migration via Oncolytic Herpes simplex Virus Type 1 (oHSV-1)","authors":"S. Shayan, A. Arashkia, G. Bahramali, K. Azadmanesh","doi":"10.18502/ajmb.v16i2.14863","DOIUrl":"https://doi.org/10.18502/ajmb.v16i2.14863","url":null,"abstract":"Background: Colorectal Cancer (CRC) represents a significant global health challenge, and its progression, resistance to therapy, and metastasis are strongly influenced by the tumor microenvironment, including factors like hypoxia. This study explores the impact of High Mobility Group Box 1 (HMGB1) overexpression on CRC cell migration, while identifying potential genes associated with this process. \u0000Methods: To explore this, we developed oncolytic virotherapy, resulting in HSV-HMGB1, an oncolytic Herpes simplex virus that expresses HMGB1. HMGB1 is known its role in cancer progression, particularly in the context of cancer cell migration. \u0000Results: Contrary to expectations, our scratch assays indicated that HSV-HMGB1 did not significantly induce migration in CRC cells, suggesting that HMGB1 might not directly contribute to this process. Employing microarray analysis, we investigated gene expression changes linked to CRC cell migration, leading to construction of a Protein-Protein Interaction (PPI) network. This network revealed the presence of hub proteins, including as NDRG1, LGALS1, and ANGPTL4, which are recognized for their roles in cancer cell migration. The differential expression of these genes under hypoxic con-ditions was further validated using quantitative RT-PCR, aligning with the findings from our microarray data.  \u0000Conclusion: Our findings emphasize the complex regulation of CRC cell migration, and provides valuable insights into potential molecular mechanisms and pathways. These findings have implications for further research into cancer progression and the development of therapeutic strategies.","PeriodicalId":8669,"journal":{"name":"Avicenna journal of medical biotechnology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139798960","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
CYP21A2 Gene Analysis in Southern Iranian CAH Patients and a Brief Review of the Mutation Spectrum 伊朗南部 CAH 患者的 CYP21A2 基因分析及突变谱简述
Avicenna journal of medical biotechnology Pub Date : 2024-02-06 DOI: 10.18502/ajmb.v16i2.14864
Danial Zangene, Hossein Moravej, H. Ilkhanipoor, A. Amirhakimi, Zhila Afshar, M. Entezam
{"title":"CYP21A2 Gene Analysis in Southern Iranian CAH Patients and a Brief Review of the Mutation Spectrum","authors":"Danial Zangene, Hossein Moravej, H. Ilkhanipoor, A. Amirhakimi, Zhila Afshar, M. Entezam","doi":"10.18502/ajmb.v16i2.14864","DOIUrl":"https://doi.org/10.18502/ajmb.v16i2.14864","url":null,"abstract":"Background: CYP21A2 gene mutations are responsible for more than 95% of Congenital Adrenal Hyperplasia (CAH) disorders with autosomal recessive inheritance. Most of these pathogenic mutations originate from the CYP21A1P, a neighboring pseudogene with 98% homology, due to unequal crossing over or gene conversion events. Mutation identification of the gene could be beneficial for accurate diagnosis and outcome prediction. \u0000Methods: Twelve unrelated patients with CAH diagnosis were recruited for genetic counseling. To ensure distinct amplification of the CYP21A2 gene rather than its pseudogene, the complete sequence of the gene was amplified through two overlapping fragments by specific primers. The entire sequences were screened by direct Sanger sequencing using new sequencing primers. \u0000Results: Only two pathogenic point mutations were identified. The c.293-13C>G, also known as In2G, and the c.955C>T mutations were found in 37.5 and 33.3% of alleles, respectively. One patient showed homozygous gene deletion. We also reviewed recent reports on CYP21A2 gene mutations in Iran. \u0000Conclusion: Evaluating the ethnicity-specific gene mutation data is significant for populations with diverse ethnic groups including the Iranian population. Although several common mutations have been reported as causative mutations among CAH patients, identifying only two common point mutations in Fars province would help prioritize exon sequencing and reduce the cost and time of genotyping.","PeriodicalId":8669,"journal":{"name":"Avicenna journal of medical biotechnology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139860061","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信