Identification of miRNA Signature Associated with BMP2 and Chemosensitivity of TMZ in Glioblastoma Stem-like Cells
In this study, we built a GSC cell model called U87S, and performed RNA sequencing to identify differentially expressed (DE) miRNA profiles in U87S cells treated with BMP2, TMZ or combined BMP2 and TMZ respectively. Bioinformatics analysis revealed that most DE miRNAs were involved in the cancer pathways, suggesting their crucial roles in gliomagenesis. Eight miRNAs from RNA-seq were validated. Four out of these miRNAs (has-miR-199a-3p, hsa-miR-374b-5p, hsa-miR-320d, and hsa-miR-339-5p) were found significantly up-regulated in GBM tumor tissues. One of them, hsa-miR-199a-3p, was significantly correlated with the survival o...
Source: Genes and Diseases - September 10, 2019 Category: Genetics & Stem Cells Source Type: research
Gene fusions and chimeric RNAs, and their implications in cancer
Publication date: Available online 30 August 2019Source: Genes & DiseasesAuthor(s): Hao Wu, Xiaorong Li, Hui LiAbstractGene fusions are appreciated as ideal cancer biomarkers and therapeutic targets. Chimeric RNAs are traditionally thought to be products of gene fusions, and thus, also cancer-specific. Recent research has demonstrated that chimeric RNAs can be generated by intergenic splicing in the absence of gene fusion, and such chimeric RNAs are also found in normal physiology. These new findings challenge the traditional theory of chimeric RNAs exclusivity to cancer, and complicates use of chimeric RNAs in cancer dete...
Source: Genes and Diseases - August 31, 2019 Category: Genetics & Stem Cells Source Type: research
Allotopic Expression of Mitochondrial Genes: Basic Strategy and Progress
Publication date: Available online 31 August 2019Source: Genes & DiseasesAuthor(s): I.Made ArtikaAbstractAllotopic expression of mitochondrial genes is a deliberate functional relocation of mitochondrial genes into the nucleus followed by import of the gene-encoded polypeptide from the cytoplasm into the mitochondria. For successful allotopic expression of a mitochondrial gene, several key aspects must be considered. These include the different codon dictionary used by the mitochondrial and nuclear genomes, different codon preferences between mitochondrial and nuclear-cytosolic translation systems, and the provision of an ...
Source: Genes and Diseases - August 31, 2019 Category: Genetics & Stem Cells Source Type: research
Unique and independent role of the GABAB1 subunit in embryo implantation and uterine decidualization in mice
This study first characterized the spatiotemporal expression pattern of GABAB receptors in the uterus during the peri-implantation period and found that GABAB1 expression was drastically upregulated in stromal cells on days 4-6, a period of embryo implantation and early stages of decidualization. Embryo delayed implantation and oil-induced decidualization models were further used to confirm that the GABAB1 was associated with embryo implantation and decidualization. We also found estrogen or progesterone had no directly effect on expression of GABAB1 in ovariectomized model. Because we were unable to detect significant GAB...
Source: Genes and Diseases - August 13, 2019 Category: Genetics & Stem Cells Source Type: research
Leukocyte adhesion defect: Where do we stand circa 2019?
Publication date: Available online 7 August 2019Source: Genes & DiseasesAuthor(s): Jhumki Das, Avinash Sharma, Ankur Jindal, Vaishali Aggarwal, Amit RawatAbstractMigration of polymorphonuclear leukocytes from bloodstream to the site of inflammation is an important event required for surveillance of foreign antigens. This trafficking of leukocytes from bloodstream to the tissue occurs in several distinct steps and involves several adhesion molecules. Defect in adhesion of leukocytes to vascular endothelium affecting their subsequent migration to extravascular space gives rise to a group of rare primary immunodeficiency dise...
Source: Genes and Diseases - August 7, 2019 Category: Genetics & Stem Cells Source Type: research
An update on the genetics and pathogenesis of hereditary angioedema
Publication date: Available online 1 August 2019Source: Genes & DiseasesAuthor(s): Aaqib Zaffar Banday, Anit Kaur, Ankur Kumar Jindal, Amit Rawat, Surjit SinghAbstractHereditary angioedema (HAE) is an uncommon genetic disorder characterized by recurrent episodes of edema involving subcutaneous tissue and submucosa. The pathogenesis of HAE reflects an intricate coordinated regulation of components of complement, kinin and hemostatic pathway. Till date, mutations in 4 different genes have been identified to cause HAE which includes serine protease inhibitor G1 (SERPING1), factor XII (F12), plasminogen (PLG) and angiopoietin ...
Source: Genes and Diseases - August 1, 2019 Category: Genetics & Stem Cells Source Type: research
Decreased osteogenic activity and mineralization of alveolar bone cells from a patient with amelogenesis imperfecta and FAM83H 1261G>T mutation
In conclusion, we identify that FAM83H bone cells have lower expression of osteogenic marker genes and mineralization while they maintain their morphology, proliferation, and spreading. Consistent with previous studies in the ameloblasts and periodontal ligamental cells, these evidences propose that FAM83H influences osteogenic differentiation across different cell types in oral cavity. (Source: Genes and Diseases)
Source: Genes and Diseases - July 31, 2019 Category: Genetics & Stem Cells Source Type: research
A novel PNPLA2 mutation causing total loss of RNA and protein expression in two NLSDM siblings with early onset but slowly progressive severe myopathy
Publication date: Available online 29 July 2019Source: Genes & DiseasesAuthor(s): Daniela Tavian, Lorenzo Maggi, Marina Mora, Lucia Morandi, Cinzia Bragato, Sara MissagliaAbstractNeutral lipid storage disease with myopathy (NLSDM) is a rare autosomal recessive disorder, due to an enzymatic error of lipid metabolism. Patients present always with skeletal muscle myopathy and variable cardiac and hepatic involvement. NLSDM is caused by mutations in the PNPLA2 gene, which encodes the adipose triglyceride lipase (ATGL). Here we report the molecular characterization and clinical findings of two NLSDM siblings carrying the novel ...
Source: Genes and Diseases - July 31, 2019 Category: Genetics & Stem Cells Source Type: research
Gene Therapy and Genome Editing for Primary Immunodeficiency Diseases
Publication date: Available online 30 July 2019Source: Genes & DiseasesAuthor(s): Fang Zhang, Zhi Yong Zhang, Adrian J. ThrasherAbstractIn past two decades the gene therapy using genetic modified autologous haematopoietic stem cells (HSCs) transduced with the viral vector has become a promising alternative option for treating primary immunodeficiency diseases (PIDs). Despite of some pitfalls at early stage clinical trials, the field of gene therapy has advanced significantly in the last decade with improvements in viral vector safety, preparatory regime for manufacturing high quality virus, automated CD34 cell purification...
Source: Genes and Diseases - July 31, 2019 Category: Genetics & Stem Cells Source Type: research
Whole-Exome Sequencing Identified a Novel Mutation of MLH1 in an Extended Family with Lynch Syndrome
Publication date: Available online 27 July 2019Source: Genes & DiseasesAuthor(s): Hamid Ghaedi, Samira Molaei Ramsheh, Maryam Erfanian Omidvar, Afsaneh Labbaf, Elham Alehabib, Sanaz Akbari, Fatemeh Pourfatemi, Hossein DarvishAbstractHereditary nonpolyposis colorectal cancer or Lynch syndrome is autosomal dominant cancer predisposition syndrome characterized by early onset of colorectal cancer and neoplasia in other organs. This condition typically caused by germline mutations in the mismatch repair genes MLH1, MSH2, MSH6, and PMS2. To date, a considerable number of MLH1 gene mutations have been found to be associated with ...
Source: Genes and Diseases - July 28, 2019 Category: Genetics & Stem Cells Source Type: research
Autosomal Recessive Cerebellar Ataxia with Spasticity due to a Rare Mutation in GBA2 Gene in a Large Consanguineous Saudi Family
ConclusionAutosomal recessive cerebellar ataxia with spasticity is an extremely rare genetic disorder with very few cases reported in the literature. We conclude that the c.2617G>A mutation in GBA2 gene causes the loss of function with abolishment of the enzymatic activity that causes the disease. This report adds further evidence to support the pathogenicity of this variant. The patients had the classical clinical phenotype of cerebellar ataxia and spasticity consistent with previous reports in the literature. (Source: Genes and Diseases)
Source: Genes and Diseases - July 28, 2019 Category: Genetics & Stem Cells Source Type: research
The Role and Function of Ras-association domain family in Cancer: A Review
Publication date: Available online 27 July 2019Source: Genes & DiseasesAuthor(s): Mohammad Reza Zinatizadeh, Seyed Ali Momeni, Peyman Kheirandish Zarandi, Ghanbar Mahmoodi Chalbatani, Hassan Dana, Hamidreza Mirzaei, Mohammad Esmaeil Akbari, Seyed Rouhollah MiriAbstractRas gene mutation has been observed in more than 30% of cancers, and 90% of pancreatic, lung and colon cancers. Ras proteins (K-Ras, H-Ras, N-Ras) act as molecular switches which are activated by binding to GTP. They play a role in the cascade of cell process control (proliferation and cell division). In the inactive state, transforming GTP to GDP leads to th...
Source: Genes and Diseases - July 28, 2019 Category: Genetics & Stem Cells Source Type: research
Recent advances in Chronic Granulomatous Disease
Publication date: Available online 27 July 2019Source: Genes & DiseasesAuthor(s): Gummadi Anjani, Pandiarajan Vignesh, Vibhu Joshi, Jitendra Kumar Shandilya, Dharmagat Bhattarai, Jyoti Sharma, Amit RawatAbstractChronic granulomatous disease (CGD) is an inherited defect of phagocyte function due to defective NADPH oxidase. Patients with CGD are not able to effectively clear the infections because of the defect in the phagocyte production of oxygen free radicals and are prone to recurrent bacterial and fungal infections. Inflammatory complications are also noted in CGD such as colitis, non-infective granulomas causing gastro...
Source: Genes and Diseases - July 28, 2019 Category: Genetics & Stem Cells Source Type: research
Writing and erasing MYC ubiquitination and SUMOylation
Publication date: Available online 24 July 2019Source: Genes & DiseasesAuthor(s): Yingxiao Chen, Xiao-Xin Sun, Rosalie C. Sears, Mu-Shui DaiAbstractThe transcription factor c-MYC (MYC thereafter) controls diverse transcription programs and plays a key role in the development of many human cancers. Cells develop multiple mechanisms to ensure that MYC levels and activity are precisely controlled in normal physiological context. As a short half-lived protein, MYC protein levels are tightly regulated by the ubiquitin proteasome system. Over a dozen of ubiquitin ligases have been found to ubiquitinate MYC whereas a number of de...
Source: Genes and Diseases - July 25, 2019 Category: Genetics & Stem Cells Source Type: research
Genetics of Severe Combined Immunodeficiency
Publication date: Available online 24 July 2019Source: Genes & DiseasesAuthor(s): Rajni Kumrah, Pandiarajan Vignesh, Pratap Patra, Ankita Singh, Anjani Gummadi, Poonam Saini, Madhubala Sharma, Anit Kaur, Amit RawatAbstractSevere Combined Immunodeficiency (SCID) is an inherited group of rare, life-threatening disorders due to the defect in T cell development and function. Clinical manifestations are characterised by recurrent and severe bacterial, viral, and fungal opportunistic infections that start from early infancy period. Hematopoietic stem cell transplantation (HSCT) is the treatment of choice. The pattern of inherita...
Source: Genes and Diseases - July 25, 2019 Category: Genetics & Stem Cells Source Type: research
