Promising therapeutic approaches using CRISPR/Cas9 genome editing technology in the treatment of Duchenne muscular dystrophy
In this study, we briefly explained the molecular genetics of DMD and a historical overview of DMD gene therapy. We in particular focused on CRISPR/Cas9-mediated therapeutic approaches that used to treat DMD. (Source: Genes and Diseases)
Source: Genes and Diseases - January 18, 2020 Category: Genetics & Stem Cells Source Type: research
Microbiome data analysis with applications to pre-clinical studies using QIIME2: Statistical considerations
Publication date: Available online 24 December 2019Source: Genes & DiseasesAuthor(s): Shesh N. Rai, Chen Qian, Jianmin Pan, Jayesh P. Rai, Ming Song, Juhi Bagaitkar, Michael Merchant, Matthew Cave, Nejat K. Egilmez, Craig J. McClainAbstractDiversity analysis and taxonomic profiles can be generated from marker-gene sequence data with the help of many available computational tools. The Quantitative Insights into Microbial Ecology Version 2 (QIIME2) has been widely used for 16S rRNA data analysis. While many articles have demonstrated the use of QIIME2 with suitable datasets, the application to pre-clinical data has rarely be...
Source: Genes and Diseases - January 11, 2020 Category: Genetics & Stem Cells Source Type: research
All-trans retinoic acid reverses malignant biological behavior of hepatocarcinoma cells by regulating miR-200 family members
In this study, we found that ATRA treatment could up-regulate the expression of miR-200a-3p, 200c-3p, and 141-3p, which were involved in ATRA regulated proliferation and apoptosis of hepal-6 cell, but not colony formation. Meanwhile, miR-200a-3p, 200c-3p, and 141-3p could recovery ATRA inhibited migration and invasion abilities of hepal-6 cells at various levels. MiR-200a-3p and 200c-3p prevented ATRA from inducing the differentiation and hepatic functions of hepal-6 cells. Antagomir specific for miR-200a-3p and 200c-3p down-regulated the expression of CK18, but only miR-200a-3p antagomir played prominent role in regulatin...
Source: Genes and Diseases - January 11, 2020 Category: Genetics & Stem Cells Source Type: research
Obstacles and Opportunities in the Prevention and Treatment of HBV-related Hepatocellular Carcinoma
Publication date: Available online 10 January 2020Source: Genes & DiseasesAuthor(s): Yong LiaoAbstractDespite the tremendous progresses toward our understanding of the mechanisms of how liver cancer was developed, the therapeutic outcomes of liver cancer in the clinic have very limited improvement within the past three decades or so. In addition, both the incidence and mortality of liver cancer worldwide are not dropping, but increasing steadily, in the last decade. Thus, it is time for us to rethink what has been wrong and how could we do better in the upcoming years, in order to achieve our goal of improving the therapeu...
Source: Genes and Diseases - January 11, 2020 Category: Genetics & Stem Cells Source Type: research
Cardiac troponin I R193H mutant interacts with HDAC1 to repress Phosphodiesterase 4D expression in cardiomyocytes
This study aims to elucidate a novel role of cTnIR193H mutant as a gene regulator. Overexpression of cTnIR193H mutant in cardiomyocytes showed decrease in PDED4D protein expression, while the enrichment of histone deacetylase 1 (HDAC1) was increased along with decreases in acetylated lysine 4 (acH3K4) and 9 (acH3K9) levels in the PDE4D promoter. HDAC1 overexpression could also downregulate PDE4D via reducing acH3K4 and acH3K9 levels. Co-IP assays showed that cTnIR193H mutant owed increased binding ability to HDAC1 compared with wild type cTnI. EGCG as a HDAC1 inhibitor could diminish the strength of cTnIR193H-HDAC1 interac...
Source: Genes and Diseases - January 10, 2020 Category: Genetics & Stem Cells Source Type: research
The regulatory roles of aquaporins in the digestive system
Publication date: Available online 8 January 2020Source: Genes & DiseasesAuthor(s): Shengtao Liao, Li Gan, Lin Lv, Zhechuan MeiAbstractAquaporins (AQPs) are highly conserved small transmembrane proteins, which are responsible for the water transport across the cell membrane. AQPs are abundantly expressed in numerous types of cells such as epithelial and endothelial cells. The expression of AQP-1, -3, -4, -5, -8 and -9 were found in the digestive system, where these six AQP isoforms serve essential roles including mediating the transmembrane water transport and regulating the secretion of gastrointestinal (GI) fluids, conse...
Source: Genes and Diseases - January 9, 2020 Category: Genetics & Stem Cells Source Type: research
Study on the Hepatocellular Carcinoma Model with Metastasis
Publication date: Available online 8 January 2020Source: Genes & DiseasesAuthor(s): Yu-Lin Lin, Yan LiAbstractHepatocellular carcinoma (HCC) is one of the most common cause of cancer-related death around the world due to advanced clinical stage at diagnosis, high incidence of recurrence and metastasis after surgical treatment. It is in urgent need to create appropriate animal models to explore the mechanism, patterns, risk factors, and therapeutic strategies of HCC metastasis and recurrence. However, most of the established models lack the phenotype of invasion and metastasis in patient, or have unstable phenotype. To esta...
Source: Genes and Diseases - January 9, 2020 Category: Genetics & Stem Cells Source Type: research
Comprehensive biological function analysis of lncRNAs in hepatocellular carcinoma
Publication date: Available online 8 January 2020Source: Genes & DiseasesAuthor(s): Dan Wang, Fengjiao Chen, Tao Zeng, Qingxia Tang, Bin Chen, Ling Chen, Yan Dong, Xiaosong LiAbstractThousands of long non-coding RNAs (lncRNAs) have been discovered in human genomes by gene chip, next-generation sequencing, and/or other methods in recent years, which represent a significant subset of the universal genes involved in a wide range of biological functions. An abnormal expression of lncRNAs is associated with the growth, invasion, and metastasis of various types of human cancers, including hepatocellular carcinoma (HCC), which is...
Source: Genes and Diseases - January 9, 2020 Category: Genetics & Stem Cells Source Type: research
Circ-Smad5 Retards The G1/S Transition Of Cell Cycle Via Inhibiting The Activity Of Wnt/Lef/CyclinD1 Signaling In JB6 Cells
Publication date: Available online 9 January 2020Source: Genes & DiseasesAuthor(s): Xiaogen Ma, Fei Xiang, Zhuo Pei, Jiafeng Miao, Pan Wu, Xiaofeng Song, Yuhong Li, Yiming ZhangAbstractCircular RNAs are a large class of noncoding RNAs. Smad5 functions in cell differentiation, cell proliferation and metastasis. It has been reported that lnc-Smad5 can inhibit the proliferation of diffuse large B cell lymphoma. However, the function of circ-Smad5 has not yet been reported. Lentivirus vectors were constructed to establish circ-Smad5 upregulated and circ-Smad5 downregulated cell models. A CCK-8 assay was used to detect the prol...
Source: Genes and Diseases - January 9, 2020 Category: Genetics & Stem Cells Source Type: research
Identification of rare PTCH1 nonsense variant causing orofacial cleft in a Chinese family and an up-to-date genotype-phenotype analysis
In this study, we conducted whole-exome sequencing on a three-generation Chinese family characterized with variable penetrance of orofacial clefts. A rare heterozygous variant in the PTCH1 gene (c.2833C>T p.R945X) was identified as a disease-associated mutation. Structural modeling revealed a truncation starting from the middle of the second extracellular domain of PTCH1 protein. This may damage its ligand recognition and sterol transportation abilities, thereby affecting the Hh signaling pathway. Biochemical assays indicated that the R945X protein had reduced stability compared to the wild-type in-vitro. In addition, we r...
Source: Genes and Diseases - January 9, 2020 Category: Genetics & Stem Cells Source Type: research
VPS33B suppresses lung adenocarcinoma metastasis and hemoresistance to Cisplatin
Publication date: Available online 8 January 2020Source: Genes & DiseasesAuthor(s): Zhen Liu, Jiahao Liu, Yang Li, Hao Wang, Zixi Liang, Xiaojie Deng, Qiaofen Fu, Weiyi Fang, Ping XuAbstractThe presence of VPS33B in tumors has rarely been reported. Downregulated VPS33B protein expression is an unfavorable factor that promotes the pathogenesis of lung adenocarcinoma (LUAD). Overexpressed VPS33B was shown to reduce the migration, invasion, metastasis, and chemoresistance of LUAD cells to cisplatin (DDP) in vivo and in vitro. Mechanistic analyses have indicated that VPS33B first suppresses epidermal growth factor receptor (EG...
Source: Genes and Diseases - January 9, 2020 Category: Genetics & Stem Cells Source Type: research
Promising Therapeutic Approaches Using CRISPR / Cas9 Genome Editing Technology in the Treatment of Duchenne Muscular Dystrophy
In this study, we briefly explained the molecular genetics of DMD and a historical overview of DMD gene therapy. We in particular focused on CRISPR/Cas9-mediated therapeutic approaches that used to treat DMD. (Source: Genes and Diseases)
Source: Genes and Diseases - January 9, 2020 Category: Genetics & Stem Cells Source Type: research
Author Correction: A novel inhibitor of MDM2 oncogene blocks metastasis of hepatocellular carcinoma and overcomes chemoresistance
Publication date: Available online 28 December 2019Source: Genes & DiseasesAuthor(s): Wei Wang, Bo Hu, Jiang-Jiang Qin, Jianwen Cheng, Xin Li, Mehrdad Rajaei, Jia Fan, Xin-Rong Yang, Ruiwen ZhangAbstractCorrection toGenes Dis 2019 Dec; 694: 419-430; https://doi.org/10.1016/j.gendis.2019.06.001. (Source: Genes and Diseases)
Source: Genes and Diseases - December 28, 2019 Category: Genetics & Stem Cells Source Type: research
Microbiome Data Analysis with an Application to a Pre-clinical Study Using QIIME2: Statistical Considerations
Publication date: Available online 24 December 2019Source: Genes & DiseasesAuthor(s): Shesh N. Rai, Chen Qian, Jianmin Pan, Jayesh P. Rai, Ming Song, Juhi Bagaitkar, Michael Merchant, Matthew Cave, Nejat K. Egilmez, Craig J. McClainAbstractDiversity analysis and taxonomic profiles can be generated from marker-gene sequence data with the help of many available computational tools. The Quantitative Insights into Microbial Ecology Version 2 (QIIME2) has been widely used for 16S rRNA data analysis. While many articles have demonstrated the use of QIIME2 with suitable datasets, the application to pre-clinical data has rarely be...
Source: Genes and Diseases - December 25, 2019 Category: Genetics & Stem Cells Source Type: research
M6A modification of circNSUN2 promotes colorectal liver metastasis
Publication date: Available online 20 December 2019Source: Genes & DiseasesAuthor(s): Rong-Zhang He, Jing Jiang, Di-Xian LuoAbstractCircular RNAs (circRNAs) are playing emerging role in the pathogenesis of cancers, but the mechanisms still unknown. In the recent issue of the Nature Communications, Chen and colleagues demonstrated that YTHDC1 facilitates N6-methyladenosine modification of circNSUN2 cytoplasmic export and the circNSUN2/IGF2BP2/HMGA2 complex stabilizes HMGA2 to promote colorectal liver metastasis. These discoveries not only expand our understanding of circRNAs biology in tumor, but also demonstrate that m6A m...
Source: Genes and Diseases - December 21, 2019 Category: Genetics & Stem Cells Source Type: research
