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Journal of Gene Medicine

Guo Ai, Weiming Yan, Haijing Yu, Fang Xiao, Dong Xi, Ke Ma, Jiaquan Huang, Xiaoping Luo, Xiaoyang Wan, Qin Ning
OBJECTIVE: Autoimmune hepatitis (AIH) is an inflammatory disease caused by aberrant immune response to hepatic self-antigens in which regulatory T cells (Tregs) are critical to maintain immunosupression. Soluble form of Fibrinogen-like protein 2 (sFGL2), a novel effector molecule of Treg is rarely investigated in AIH. Here, we dissected the role of sFGL2 in the autoimmune hepatitis and its potential mechanism underlying AIH progression. METHODS: Plasma and intrahepatic sFGL2 levels, as well as Treg cells were measured in both AIH patients and experimental autoimmune hepatitis (EAH) mice...
May 14, 2018: Journal of Gene Medicine
Julian Ramírez-Bello, Daniel Cadena-Sandoval, José Manuel Fragoso, Rosa Elda Barbosa-Cobos, Mario Adán Moreno-Eutímio, Miguel Ángel Saavedra-Salinas, Guillermo Valencia-Pacheco, Ricardo F López-Villanueva, Silvia Jiménez-Morales
No abstract text is available yet for this article.
May 14, 2018: Journal of Gene Medicine
Shuang Long, Na Zhao, Lan Ge, Guojian Wang, Xinze Ran, Junping Wang, Yongping Su, Tao Wang
BACKGROUND: The cellular and molecular mechanisms for aged-associated delay of cutaneous wound healing are still not well understood. Our previous results show that miR-21 plays key roles during skin wound healing. We presumed that dysregulation of miR-21 may involve in aged-associated defects in wound healing and miR-21 may be one potential therapeutic target to ameliorate wound defects in elderly subjects. METHODS: Circular full thickness excisional wounds were made on the dorsal skin of young (2-month-old) and aged (12-month-old) female mice...
April 15, 2018: Journal of Gene Medicine
Sachie Nakamura, Shin-Ichi Muramatsu, Naomi Takino, Mika Ito, Eriko F Jimbo, Kuniko Shimazaki, Tatsushi Onaka, Sumio Ohtsuki, Tetsuya Terasaki, Takanori Yamagata, Hitoshi Osaka
BACKGROUND: We generated an adeno-associated virus (AAV) vector in which the human SLC2A1 gene, encoding glucose transporter type 1 (GLUT1), was expressed under the human endogenous GLUT1 promoter (AAV-GLUT1). We examined whether AAV-GLUT1 administration could lead to functional improvement in GLUT1-deficient mice. METHODS: We extrapolated human endogenous GLUT1 promoter sequences from rat minimal Glut1 promoter sequences. We generated a tyrosine-mutant AAV9/3 vector in which human SLC2A1-myc-DDK was expressed under the human GLUT1 promoter (AAV-GLUT1)...
April 6, 2018: Journal of Gene Medicine
Thorsten Bergmann, Eric Ehrke-Schulz, Jian Gao, Maren Schiwon, Verena Schildgen, Stephan David, Oliver Schildgen, Anja Ehrhardt
BACKGROUND: Gene correction at specific target loci provides a powerful strategy to overcome genetic diseases. Here we aimed at using an in vitro model for canine hemophilia B containing a single point mutation in the catalytic domain of the canine coagulation factor IX (cFIX) gene. To correct the defective gene via homology-directed repair (HDR), we designed transcription-activator like effector nucleases (TALENs) and clustered regularly interspaced short palindromic repeats including Cas9 (CRISPR/Cas9) for introduction of double strand breaks at the mutation site...
April 2, 2018: Journal of Gene Medicine
Simone Gabner, Reinhard Ertl, Karsten Velde, Matthias Renner, Florien Jenner, Monika Egerbacher, Juraj Hlavaty
BACKGROUND: A combination of tissue engineering methods employing MSCs together with gene transfer takes the advantage of both innovative strategies and highlights a new approach to target osteoarthritis (OA) and other cartilage defects. Furthermore, the development of systems allowing tunable transgene expression, regulated by natural disease-induced substances is highly desirable. METHODS: Bone marrow-derived equine MSCs were transduced with a lentiviral vector expressing interleukin-1 receptor antagonist (IL-1Ra) gene under control of an inducible NFkB-responsive promoter and the IL-1Ra production upon pro-inflammatory cytokine stimulation (TNFα, IL-1β) was analysed...
April 2, 2018: Journal of Gene Medicine
Bong Jik Kim, Jin Hee Han, Hye-Rim Park, Min Young Kim, Ah Reum Kim, Seung-Ha Oh, Woong-Yang Park, Doo Yi Oh, Seungmin Lee, Byung Yoon Choi
BACKGROUND: The MYO6 gene, if altered, can cause non-syndromic hearing loss (NSHL) either in autosomal dominant (AD) (DFNA22) or recessive form. This study identified MYO6 variants in the cohort of Korean AD NSHL families and investigated the audiological phenotypes of DFNA22 to suggest clinical guides for the counseling of DFNA22. METHODS: Retrospective cohort study was performed on 81 AD NSHL families in two hospitals. Among them, five families (SH21, SB60, SB247, SB290, and SB305) segregating with MYO6 variant were genetically and clinically assessed...
April 1, 2018: Journal of Gene Medicine
Volker M Betz, Stefan Kochanek, Stefan Rammelt, Peter E Müller, Oliver B Betz, Carolin Messmer
AIMS: The loss of bone tissue represents a critical clinical condition that is frequently faced by surgeons. Substantial progress has been made in the area of bone research providing insight into the biology of bone at physiological and pathological conditions and also tools for the stimulation of bone regeneration. The aim of this review article was to discuss recent advances in the field of gene-enhanced bone tissue engineering. DISCUSSION: Gene transfer strategies have emerged as highly effective tissue engineering approaches to support the repair of the musculoskeletal system...
March 30, 2018: Journal of Gene Medicine
Olga E Bryzgunova, Maria Yu Konoshenko, Pavel P Laktionov
AIMS: The insight into aberrant expression of microRNAs (miRNAs) and the genes they regulate during progression of cancer diseases in general and prostate cancer (PCa) in particular is one of the most important issues in the current molecular biomedicine and allows for discovery of the therapeutic or diagnostic miRNA targets. The aims of this study were to analyze the available data on a direct or an indirect effect of miRNAs on expression of the mRNAs involved in carcinogenesis and to make it possible to update and optimize selection of the corresponding targets...
March 26, 2018: Journal of Gene Medicine
Binhai Ren, Que T La, Bronwyn A O'Brien, Najah T Nassif, Yi Tan, Dario Gerace, Rosetta Martiniello-Wilks, Fraser Torpy, Allison P Dane, Ian E Alexander, Ann M Simpson
BACKGROUND: Gene therapy is one treatment that may ultimately cure Type 1 diabetes. We have previously shown that introduction of furin-cleavable human insulin (INS-FUR) to the livers in several animal models of diabetes has resulted in reversal of diabetes and partial pancreatic transdifferentiation of liver cells. This study assessed if streptozotocin (STZ)-diabetes could be reversed in FRG mice in which chimeric mouse-human livers can be established, and if pancreatic transdifferentiation occurred in the engrafted human hepatocytes...
March 26, 2018: Journal of Gene Medicine
Samantha L Ginn, Anais K Amaya, Ian E Alexander, Michael Edelstein, Mohammad R Abedi
To date, nearly 2600 gene therapy clinical trials have been completed, are ongoing or have been approved worldwide. Our database brings together global information on gene therapy clinical activity from trial databases, official agency sources, published literature, conference presentations and posters kindly provided to us by individual investigators or trial sponsors. This review presents our analysis of clinical trials that, to the best of our knowledge, have been or are being performed worldwide. As of our November 2017 update, we have entries on 2597 trials undertaken in 38 countries...
March 25, 2018: Journal of Gene Medicine
Jing Chen, Yan Qi, Cui-Fang Liu, Jing-Min Lu, Yan Shi
INTRODUCTION: MicroRNAs have been increasing prevalent due to the association of their deregulation with neurodegenerative disorders, especially Alzheimer's disease (AD). However, the association between miRNAs and AD hasn't been made clear. PURPOSE: In this study, Nine representative miRNA datasets were selected for the identification of the critical miRNAs by analyzing the overlap relations among them. TargetScan software was further used to predict the target genes of these miRNAs...
March 15, 2018: Journal of Gene Medicine
Monica Juneja, Uzma Shamim, Aditi Joshi, Aaradhna Mathur, Bharathram Uppili, Smitha Sairam, Sakshi Ambawat, Rashmi Dixit, Mohammed Faruq
BACKGROUND: Mutations in SLC39A14 cause a recessive disorder of manganese (Mn) metabolism that manifests as childhood onset progressive neurodegeneration characterized by parkinsonism and dystonia. METHODS: The present study genetically investigated a case of hypermanganesemia. We describe a family where an affected child with a history of progressive neurodegeneration showed symptoms of dystonia with increased levels of blood Mn and altered signal intensities in globus pallidus and dentate nucleus...
April 2018: Journal of Gene Medicine
Shing Cheng Tan
Colorectal cancer is a leading form of cancer in both males and females. Early detection of individuals at risk of colorectal cancer allows proper treatment and management of the disease to be implemented, which can potentially reduce the burden of colorectal cancer incidence, morbidity and mortality. In recent years, the role of genetic susceptibility factors in mediating predisposition to colorectal cancer has become more and more apparent. Identification of high-frequency, low-penetrance genetic polymorphisms associated with the cancer has therefore emerged as an important approach which can potentially aid prediction of colorectal cancer risk...
April 2018: Journal of Gene Medicine
Pratheppa Rajagopal, Sowmiya Duraiswamy, Swaminathan Sethuraman, Jayandharan Giridhara Rao, Uma Maheswari Krishnan
The advantages and critical aspects of nanodimensional polymer-coated viral vector systems potentially applicable for gene delivery are reviewed. Various viral and nonviral vectors have been explored for gene therapy. Viral gene transfer methods, although highly efficient, are limited by their immunogenicity. Nonviral vectors have a lower transfection efficiency as a result of their inability to escape from the endosome. To overcome these drawbacks, novel nanotechnology-mediated interventions that involve the coating or modification of virus using polymers have emerged as a new paradigm in gene therapy...
April 2018: Journal of Gene Medicine
Scott Ledger, Annett Howe, Stuart Turville, Anupriya Aggarwal, Borislav Savkovic, Andrew Ong, Orit Wolstein, Maureen Boyd, Michelle Millington, Paul R Gorry, John M Murray, Geoff Symonds
The gene therapeutic Cal-1 comprises the anti-HIV agents: sh5, a short hairpin RNA to CCR5 that down-regulates CCR5 expression; and maC46 (C46), a peptide that inhibits viral fusion with the cell membrane. These constructs were assessed for inhibition of viral replication and selective cell expansion in a number of settings. METHODS: HIV replication, selective outgrowth and cell surface viral binding were analysed with a single cycle infection assay of 6 pseudotyped HIV strains and a static and longitudinal passaging of MOLT4/CCR5 cells with HIV...
February 10, 2018: Journal of Gene Medicine
Alexandra V Bruter, Oleg F Kandarakov, Alexander V Belyavsky
BACKGROUND: Gene therapy and cell modification for clinical applications using plasmid vectors are considered to be a safe and promising strategy. One of the major problems with plasmid vector-based constructs is a rapid decline of transgene expression in cells in vitro and in vivo. An important role of CpG motifs or bacterial vector backbone in expression silencing has been suggested. METHODS: To address the effects of CpG motifs on transgene expression maintenance in stem cells in vitro, we constructed a novel pMBR2 plasmid vector containing 13 CpG motifs only...
February 2018: Journal of Gene Medicine
Maya Gulubova, Elina Aleksandrova, Tatyana Vlaykova
BACKGROUND: Anti-inflammatory cytokines such as interleukin (IL)-10 and transforming growth factor (TGF)-β1 have a complex role in the development of colorectal cancer (CRC). Dendritic cells (DCs) are the cellular component of the inflammatory microenvironment in the tumor and infiltration of tumors by DCs is associated with better prognosis and fewer metastases. METHODS: In the present study, we explored the role of two single nucleotide polymorphisms (SNPs) in the promoter regions of TGFB1 and IL10 genes and their associations with infiltrating DCs in CRC...
February 2018: Journal of Gene Medicine
Xiaofeng Wen, Yu Liu, Qi Yan, Minling Liang, Miao Tang, Ran Liu, Jianying Pan, Qiuhui Liu, Tingting Chen, Shixin Guo, Juanran Liang, Lin Lu, Xiaoyan Ding, Wei Chen, Lai Wei
BACKGROUND: Polypoidal choroidal vasculopathy (PCV) and neovascular age-related macular degeneration (nAMD) share a similar phenotype but are different in their clinical manifestations, responses to treatment and prognosis. Whether PCV is a subtype of AMD or a distinct entity from nAMD remains unknown. Therefore, we performed a whole-exome sequencing based association analysis to compare the genetic architecture of PCV and nAMD in Han Chinese. METHODS: Whole-exome sequencing analysis was performed on 21 nAMD cases, 20 PCV cases and 20 healthy controls...
February 2018: Journal of Gene Medicine
HariOm Singh, Dharmesh Samani, Manisha V Ghate, Raman R Gangakhedkar
BACKGROUND: TRIM5α and BST-2 are cellular restriction factors affecting the HIV-1 infection and its progression. Genetic variability in these genes alters the expression pattern. Hence, we aimed to examine the impact of the TRIM5α (rs10838525, rs7127617 and rs904375) and BST2 (rs3217318 and rs71694748) polymorphisms on the acquisition of HIV-1 and its progression. METHODS: Genotyping of TRIM5α and BST-2 polymorphisms was performed in a total of 153 HIV-infected patients and 158 unrelated healthy individuals using a polymerase chain reaction-restriction fragment length polymorphism method...
February 2018: Journal of Gene Medicine
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