Endothelin-converting Enzyme-1b Genetic Variants Increase the Risk of Coronary Artery Ectasia
This study aims to investigate the effects of rs213045 and rs2038089 polymorphisms in the ECE-1 gene which have been previously shown to be associated with atherosclerosis and hypertension (HT), in CAE patients. Ninety-six CAE and 175 patients with normal coronary arteries were included in the study. ECE-1b gene variations rs213045 and rs2038089 were determined by real-time PCR. The frequencies of rs213045 C > A (C338A) CC genotype (60.4% vs. 35.4%, p < 0.001) and rs2038089 T > C T allele (64.58% vs. 35.42%, p = 0.017) were higher in the CAE group compared to the control group. The multivariate regression analysis...
Source: Biochemical Genetics - April 16, 2024 Category: Genetics & Stem Cells Authors: Gulcin Ozkara Ezgi Irmak Aslan Fidan Malikova Cagatay Aydogan Ozgur Selim Ser Onur Kilicarslan Sadiye Nur Dalgic Ahmet Yildiz Oguz Ozturk Hulya Yilmaz-Aydogan Source Type: research
MUC4 O-GlcNAcylation Regulates the Epithelial Phenotype in Conjunctival Epithelial Cells
This study may provide a better understanding of the pathogenesis of allergic conjunctivitis (AC).PMID:38627316 | DOI:10.1007/s10528-024-10791-9 (Source: Biochemical Genetics)
Source: Biochemical Genetics - April 16, 2024 Category: Genetics & Stem Cells Authors: Wei-Wei Xiong Zi-Jing Ouyang Yi Tan Li-Wen Xu Xiao-Wei Peng Source Type: research
Broadening the Phenotype and Genotype Spectrum of Glycogen Storage Disease by Unraveling Novel Variants in an Iranian Patient Cohort
This study aims to investigate the phenotype and genotype spectrum of GSDs in a cohort of 14 families from Iran using whole-exome sequencing (WES) and variant analysis. WES was performed on 14 patients clinically suspected of GSDs. Variant analysis was performed to identify genetic variants associated with GSDs. A total of 13 variants were identified, including six novel variants, and seven previously reported pathogenic variants in genes such as AGL, G6PC, GAA, PYGL, PYGM, GBE1, SLC37A4, and PHKA2. Most types of GSDs observed in the cohort were associated with hepatomegaly, which was the most common clinical presentation....
Source: Biochemical Genetics - April 15, 2024 Category: Genetics & Stem Cells Authors: Parinaz Moghimi Farzad Hashemi-Gorji Sanaz Jamshidi Sahand Tehrani Fateh Shadab Salehpour Hossein Sadeghi Fatemeh Norouzi Rostami Reza Mirfakhraie Mohammad Miryounesi Mohammad-Reza Ghasemi Source Type: research
Broadening the Phenotype and Genotype Spectrum of Glycogen Storage Disease by Unraveling Novel Variants in an Iranian Patient Cohort
This study aims to investigate the phenotype and genotype spectrum of GSDs in a cohort of 14 families from Iran using whole-exome sequencing (WES) and variant analysis. WES was performed on 14 patients clinically suspected of GSDs. Variant analysis was performed to identify genetic variants associated with GSDs. A total of 13 variants were identified, including six novel variants, and seven previously reported pathogenic variants in genes such as AGL, G6PC, GAA, PYGL, PYGM, GBE1, SLC37A4, and PHKA2. Most types of GSDs observed in the cohort were associated with hepatomegaly, which was the most common clinical presentation....
Source: Biochemical Genetics - April 15, 2024 Category: Genetics & Stem Cells Authors: Parinaz Moghimi Farzad Hashemi-Gorji Sanaz Jamshidi Sahand Tehrani Fateh Shadab Salehpour Hossein Sadeghi Fatemeh Norouzi Rostami Reza Mirfakhraie Mohammad Miryounesi Mohammad-Reza Ghasemi Source Type: research
miR-185-5p May Modulate the Chemosensitivity of LUSC to Cisplatin via Targeting PCDHA11: Multi-omics Analysis and Experimental Validation
This study aims to explore drug response-related miRNAs (DRmiRNAs) based on multi-omics research. We identified DRmiRNAs of LUSC with a multi-omics integrated system that combines expression data of microRNA, lncRNA, mRNA, methylation levels, somatic mutations. After identifying DRmiRNAs, we screened and validated of the target mRNAs of DRmiRNAs through Targetscan and the miRDB database. Then, Real-time PCR and Western blot assays were used to estimate the expression of DRmiRNAs and target protein, and the dual-luciferase assays were used to confirm the interaction of DRmiRNAs and target mRNA. Furthermore, CCK-8 (Cell Coun...
Source: Biochemical Genetics - April 13, 2024 Category: Genetics & Stem Cells Authors: Yicheng Liang Mei Liang Tao Yan Xiangzhi Meng Boxuan Zhou Yushun Gao Source Type: research
miR-185-5p May Modulate the Chemosensitivity of LUSC to Cisplatin via Targeting PCDHA11: Multi-omics Analysis and Experimental Validation
This study aims to explore drug response-related miRNAs (DRmiRNAs) based on multi-omics research. We identified DRmiRNAs of LUSC with a multi-omics integrated system that combines expression data of microRNA, lncRNA, mRNA, methylation levels, somatic mutations. After identifying DRmiRNAs, we screened and validated of the target mRNAs of DRmiRNAs through Targetscan and the miRDB database. Then, Real-time PCR and Western blot assays were used to estimate the expression of DRmiRNAs and target protein, and the dual-luciferase assays were used to confirm the interaction of DRmiRNAs and target mRNA. Furthermore, CCK-8 (Cell Coun...
Source: Biochemical Genetics - April 13, 2024 Category: Genetics & Stem Cells Authors: Yicheng Liang Mei Liang Tao Yan Xiangzhi Meng Boxuan Zhou Yushun Gao Source Type: research
MicroRNA-130b Suppresses Malignant Behaviours and Inhibits the Activation of the PI3K/Akt Signaling Pathway by Targeting MET in Pancreatic Cancer
Biochem Genet. 2024 Apr 12. doi: 10.1007/s10528-024-10696-7. Online ahead of print.ABSTRACTThere has been interested in the microRNAs' roles in pancreatic cancer (PC) cell biology, particularly in regulating pathways related to tumorigenesis. The study aimed to explore the hub miRNAs in PC and underlying mechanisms by bioinformatics and fundamental experiments. RNA datasets collected from the Gene Expression Omnibus were analysed to find out differentially expressed RNAs (DERNAs). The miRNA-mRNA and protein-protein interaction (PPI) networks were built. The clinicopathological features and expressions of hub miRNAs and hub...
Source: Biochemical Genetics - April 12, 2024 Category: Genetics & Stem Cells Authors: Zilin Yang Yuming Tang Xuejiao Wu Jiancheng Wang Weiyan Yao Source Type: research
The Long Noncoding RNA Gall Bladder Cancer-Associated Suppressor of Pyruvate Carboxylase Inhibits the Proliferation, Migration, and Invasion of Colorectal Cancer Cells and Induces Their Apoptosis
In conclusion, lnc-SOD2-1 may act as a tumor suppressor that inhibits the proliferation, migration, and invasion of CRC cells and induces their apoptosis.PMID:38609669 | DOI:10.1007/s10528-024-10786-6 (Source: Biochemical Genetics)
Source: Biochemical Genetics - April 12, 2024 Category: Genetics & Stem Cells Authors: Tingting Xie Jianian Guo Wei Wang Source Type: research
LncRNA XIST Protects Against Polycystic Ovary Syndrome via the Regulation of miR-212-3p/RASA1 Axis
Biochem Genet. 2024 Apr 12. doi: 10.1007/s10528-024-10777-7. Online ahead of print.ABSTRACTThe polycystic ovary syndrome (PCOS), a common endocrine disorder, is mainly related to infertility. Moreover, it is characterized by promoted androgen, suppressed ovulation and insulin resistance. Long non-coding RNA X inactive specific transcript (lncRNA XIST), known as an oncogene or a cancer inhabited factor, is involved in several disease. However, the diagnostic mechanisms of lncRNA XIST in PCOS have not been clarified. Our study aimed to explain whether lncRNA XIST regulates KGN cells proliferation and apoptosis via microRNA (...
Source: Biochemical Genetics - April 12, 2024 Category: Genetics & Stem Cells Authors: Xiaomeng Xu Cheng Yin Bing Dong Yuewen Li Shi Liu Jun Chen Source Type: research
MicroRNA-130b Suppresses Malignant Behaviours and Inhibits the Activation of the PI3K/Akt Signaling Pathway by Targeting MET in Pancreatic Cancer
Biochem Genet. 2024 Apr 12. doi: 10.1007/s10528-024-10696-7. Online ahead of print.ABSTRACTThere has been interested in the microRNAs' roles in pancreatic cancer (PC) cell biology, particularly in regulating pathways related to tumorigenesis. The study aimed to explore the hub miRNAs in PC and underlying mechanisms by bioinformatics and fundamental experiments. RNA datasets collected from the Gene Expression Omnibus were analysed to find out differentially expressed RNAs (DERNAs). The miRNA-mRNA and protein-protein interaction (PPI) networks were built. The clinicopathological features and expressions of hub miRNAs and hub...
Source: Biochemical Genetics - April 12, 2024 Category: Genetics & Stem Cells Authors: Zilin Yang Yuming Tang Xuejiao Wu Jiancheng Wang Weiyan Yao Source Type: research
Overexpression of PIK3CG in Cancer Cells Promotes Lung Cancer Cell Migration and Metastasis Through Enhanced MMPs Expression and Neutrophil Recruitment and Activation
Biochem Genet. 2024 Apr 11. doi: 10.1007/s10528-024-10788-4. Online ahead of print.ABSTRACTMetastasis is a major cause of death in lung cancer. The aim of this study is to analyze the role and mechanism of PI3K catalytic subunit gamma (PIK3CG, also known as p110γ) in lung cancer cell migration and metastasis. Knockdown (KD) and overexpression (OE) of PIK3CG expression in lung cancer cell lines A549 and H1299 in vitro cultured was achieved. Two PIK3CG-specific inhibitors, Eganelisib and CAY10505, were used to treat A549 and H1299 cells. An experimental lung metastasis mouse model was constructed using tail vein injection o...
Source: Biochemical Genetics - April 11, 2024 Category: Genetics & Stem Cells Authors: Jinpeng Sun Zhenshan Zhang Binghui Xia Tianyu Yao Fengyue Ge Fengmei Yan Source Type: research
Dysregulation of miR-25-3p in Diabetic Nephropathy and Its Role in Inflammatory Response
Biochem Genet. 2024 Apr 11. doi: 10.1007/s10528-024-10781-x. Online ahead of print.ABSTRACTTo investigate the expression level of miR-25-3p in patients with type 2 diabetes mellitus (T2DM) and diabetic nephropathy (DN), and its effect on proliferation, apoptosis and inflammatory response of mesangial cells cultured with high glucose. Blood samples of all clinical subjects were collected for RT-qPCR analysis to detect serum miR-25-3p levels. Human mesangial cells (HMCs) cultured with high glucose were used to construct DN model in vitro. MTT assay, flow cytometry and ELISA were used to evaluate the effects of miR-25-3p on t...
Source: Biochemical Genetics - April 11, 2024 Category: Genetics & Stem Cells Authors: Huanzhen Chen Tongguan Tian Dan Wang Source Type: research
Analysis of Molecular Genetic Variants of Lgals4 in Esophageal Cancer: A Preliminary Report
Biochem Genet. 2024 Apr 12. doi: 10.1007/s10528-024-10780-y. Online ahead of print.ABSTRACTEsophageal cancer is the eighth most common cancer worldwide and fourth most common in developing countries. Altered glycosylation pattern of cell membrane molecules along with inflammation is a characteristic attribute of oncogenesis. Galectin-4, a tandem repeat galectin, has shown effect on cancer progression/metastasis in digestive system cancers. This role of galectin-4 can be attributed to variations in LGALS4, gene encoding galectin-4. The present case-control study was designed to analyze four intronic SNPs in LGALS4 with susc...
Source: Biochemical Genetics - April 11, 2024 Category: Genetics & Stem Cells Authors: Surmeet Kaur Rajiv Devgan Jagdeep Singh Namarta Kalia Jatinder Singh Manpreet Kaur Source Type: research
Overexpression of PIK3CG in Cancer Cells Promotes Lung Cancer Cell Migration and Metastasis Through Enhanced MMPs Expression and Neutrophil Recruitment and Activation
Biochem Genet. 2024 Apr 11. doi: 10.1007/s10528-024-10788-4. Online ahead of print.ABSTRACTMetastasis is a major cause of death in lung cancer. The aim of this study is to analyze the role and mechanism of PI3K catalytic subunit gamma (PIK3CG, also known as p110γ) in lung cancer cell migration and metastasis. Knockdown (KD) and overexpression (OE) of PIK3CG expression in lung cancer cell lines A549 and H1299 in vitro cultured was achieved. Two PIK3CG-specific inhibitors, Eganelisib and CAY10505, were used to treat A549 and H1299 cells. An experimental lung metastasis mouse model was constructed using tail vein injection o...
Source: Biochemical Genetics - April 11, 2024 Category: Genetics & Stem Cells Authors: Jinpeng Sun Zhenshan Zhang Binghui Xia Tianyu Yao Fengyue Ge Fengmei Yan Source Type: research
Dysregulation of miR-25-3p in Diabetic Nephropathy and Its Role in Inflammatory Response
Biochem Genet. 2024 Apr 11. doi: 10.1007/s10528-024-10781-x. Online ahead of print.ABSTRACTTo investigate the expression level of miR-25-3p in patients with type 2 diabetes mellitus (T2DM) and diabetic nephropathy (DN), and its effect on proliferation, apoptosis and inflammatory response of mesangial cells cultured with high glucose. Blood samples of all clinical subjects were collected for RT-qPCR analysis to detect serum miR-25-3p levels. Human mesangial cells (HMCs) cultured with high glucose were used to construct DN model in vitro. MTT assay, flow cytometry and ELISA were used to evaluate the effects of miR-25-3p on t...
Source: Biochemical Genetics - April 11, 2024 Category: Genetics & Stem Cells Authors: Huanzhen Chen Tongguan Tian Dan Wang Source Type: research
