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Journal of Gene Medicine

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https://www.readbyqxmd.com/read/28636766/association-of-tnfsf13-polymorphisms-with-iga-nephropathy-in-chinese-han-population
#1
Zhong Zhong, Shao-Zhen Feng, Ri-Cong Xu, Zhi-Jian Li, Feng-Xian Huang, Pei-Ran Yin, Wen-Ting Liu, Meng Wang, Dian-Chun Shi, Qian Zhou, Xue-Qing Yu, Ming Li
BACKGROUND: Our previous genome-wide association study (GWAS) of IgA nephropathy (IgAN) in Chinese Han population suggested that TNFSF13 gene may be a novel susceptibility gene for IgAN. In this study, we aim to further evaluate the associations of single-nucleotide polymorphisms (SNPs) and expression level of TNFSF13 gene with the risk and clinical parameters of IgAN. METHODS: Six candidate SNPs were selected for genotyping by Sequenom MassARRAY iPLEX in 1000 IgAN cases and 1000 controls...
June 21, 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/28632911/polymer-functionalized-gold-nanoparticles-as-non-viral-gene-delivery-reagents
#2
M Mar Encabo-Berzosa, Maria Sancho-Albero, Victor Sebastian, Silvia Irusta, Manuel Arruebo, Jesus Santamaria, Pilar Martín Duque
BACKGROUND: In this study we investigated the ability of PEG functionalized gold nanoparticles as non-viral vectors in the transfection of different cell lines, comparing them with commercial lipoplexes. METHODS: Positively charged gold nanoparticles were synthesized using PEI as reducing and stabilizer agent and its cytotoxicity reduced by its functionalization with PEG. We bound the nanoparticles to three plasmids with different sizes (4-40 kpb). The vector internalization was evaluated by confocal and electronic microscopy...
June 20, 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/28623876/developmental-history-and-application-of-crispr-in-human-disease
#3
REVIEW
Puping Liang, Xiya Zhang, Yuxi Chen, Junjiu Huang
Genome editing tools are programmable artificial nucleases, mainly including zinc-finger nucleases (ZFNs), transcription activator-like effector nucleases (TALENs) and clustered regularly interspaced short palindromic repeat (CRISPR). By recognizing and cleaving specific DNA sequences, genome editing tools make it possible to generate site-specific DNA double-strand breaks (DSBs) in the genome. DSBs will then be repaired by either error-prone non-homologous end joining (NHEJ) or high-fidelity homologous recombination (HR) mechanisms...
June 17, 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/28591938/variants-in-mody-genes-associated-with-maternal-lipids-profiles-in-second-trimester-of-pregnancy
#4
Xiaojing Wang, Wei Li, Liangkun Ma, Fan Ping, Juntao Liu, Xueyan Wu, Jiangfeng Mao, Xi Wang, Min Nie
BACKGROUND: Dyslipidemia during pregnancy increase the risk of pregnancy complications. Lipid profiles has strong genetic determinant and numerous susceptibility loci has been identified. However, very few studies focused on the association of lipid-related loci and maternal serum lipids during pregnancy. We, for the first time, investigated the association of common variants in three MODY genes (HNF1A, HNF4A and HNF1B) with serum lipid concentrations and glucose metabolism related quantitative traits in the second trimester of pregnancy...
June 7, 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/28581127/correlation-analysis-of-hla-dpb1-05-01-gene-and-btnl2-gene-within-mhc-region-with-clinical-phenotype-of-psoriasis-vulgaris-in-the-chinese-han-population
#5
Huimin Guo, Yong Huang, Juan Wu, Xiaodong Zheng, Lei Ye, Hequn Huang, Wenjun Wang, Qi Zhen, Jing Wu, Wenjun Qian, Hui Cheng, Xing Fan, Xuejun Zhang
BACKGROUND: The human major histocompatibility complex (MHC) is well known to be highly polymorphic and has been identified to be associated with numerous diseases. HLA-DPB1 gene and BTNL2 gene were associated with psoriasis for the first time. This study aims to investigate the relevance of HLA-DPB1 gene and BTNL2 gene with clinical phenotypes of psoriasis vulgaris (PV). METHODS: To investigate the HLA-DPB1 gene and BTNL2 gene polymorphism which was association with clinical phenotypes of PV in Chinese Han population, we conducted an analysis in case-control and case-only subjects in the 9906 controls and 8744 cases by MHC targeted sequencing stratified analysis in this study...
June 5, 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/28544509/association-of-arhgap22-gene-polymorphisms-with-the-risk-of-type-2-diabetic-retinopathy
#6
Rong Li, Peng Chen, Jing Li, Mengdan Yan, Jingjie Li, Shanqu Li, Hongli Zhu
BACKGROUND: Little is known about the contribution of ARHGAP22 polymorphism to diabetic retinopathy (DR) risk. We performed a case-control study to investigate the associations between ARHGAP22 and the risk of DR in a Chinese Han population. METHODS: A total of 341 patients with type 2 diabetes mellitus (T2DM) were selected. All patients underwent a complete eye examination. Based on this, the patients with T2DM were divided into two subgroups: 188 patients with DR and 153 patients without DR...
May 22, 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/28474840/cox2-and-nos3-gene-polymorphisms-in-women-with-gestational-diabetes
#7
Maciej Tarnowski, Marta Tkacz, Violetta Dziedziejko, Krzysztof Safranow, Andrzej Pawlik
BACKGROUND: Gestational diabetes (GDM) is carbohydrate intolerance occurring in pregnancy. Low-grade inflammation plays an important role in the pathogenesis of this disorder. The aim of this study was to examine the association between COX2 (rs6681231) and NOS3 (rs1799983, rs2070744) gene polymorphisms and GDM. METHODS: This study included 204 pregnant women with GDM and 207 pregnant women with normal glucose tolerance (NGT). The diagnosis of GDM was based on a 75 g oral glucose tolerance test (OGTT) at 24-28 weeks' gestation...
May 5, 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/28544179/risk-of-high-altitude-pulmonary-edema-and-telomere-length
#8
LETTER
Gaurav Sikri, Srinivasa Bhattachar
No abstract text is available yet for this article.
May 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/28444911/response-to-the-letter-to-the-editor-by-d-yuan-risk-of-high-altitude-pulmonary-edema-and-telomere-length
#9
LETTER
Dongya Yuan
No abstract text is available yet for this article.
May 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/28423213/systemic-tumor-targeted-sodium-iodide-symporter-nis-gene-therapy-of-hepatocellular-carcinoma-mediated-by-b6-peptide-polyplexes
#10
Sarah Urnauer, Kathrin Klutz, Geoffrey K Grünwald, Stephan Morys, Nathalie Schwenk, Christian Zach, Franz-Josef Gildehaus, Wolfgang Rödl, Manfred Ogris, Ernst Wagner, Christine Spitzweg
BACKGROUND: Nonviral polymer-based gene transfer represents an adaptable system for tumor-targeted gene therapy because various design strategies of shuttle systems, together with the mechanistic concept of active tumor targeting, lead to improved gene delivery vectors resulting in higher tumor specificity, efficacy and safety. METHODS: Using the sodium iodide symporter (NIS) as a theranostic gene, nonviral gene delivery vehicles based on linear polyethylenimine (LPEI), polyethylene glycol (PEG) and coupled to the synthetic peptide B6 (LPEI-PEG-B6), which specifically binds to tumor cells, were investigated in a hepatocellular carcinoma xenograft model for tumor selectivity and transduction efficiency...
May 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/28387446/polymorphisms-in-the-snrpn-gene-are-associated-with-obesity-susceptibility-in-a-spanish-population
#11
David Albuquerque, Licínio Manco, Luz M González, Guillermo Gervasini, Goitzane Marcaida Benito, Juan R González, Raquel Rodríguez-López
BACKGROUND: SNRPN, which codes for the RNA-binding SmN protein, is a candidate gene for Prader-Willi syndrome. One characteristic of this neuroendocrine disorder is hyperphagia resulting in extreme obesity later in life. In the present study, we aimed to assess whether variability within this gene could be implicated in obesity susceptibility. METHODS: A case-control study was performed including 265 unrelated patients with nonsyndromic and early-onset severe obesity, belonging to high-risk obesity families from Spanish ancestry; 184 healthy control individuals were included representative of the same genetic background and sex-matched...
May 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/28370939/stent-mediated-gene-and-drug-delivery-for-cardiovascular-disease-and-cancer-a-brief-insight
#12
REVIEW
Akshaya Krishnagopal, Aakash Reddy, Dwaipayan Sen
This review concisely recapitulates the different existing modes of stent-mediated gene/drug delivery, their considerable advancement in clinical trials and a rationale for other merging new technologies such as nanotechnology and microRNA-based therapeutics, in addition to addressing the limitations in each of these perpetual stent platforms. Over the past decade, stent-mediated gene/drug delivery has materialized as a hopeful alternative for cardiovascular disease and cancer in contrast to routine conventional treatment modalities...
May 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/28370835/design-of-ph-sensitive-peptides-from-natural-antimicrobial-peptides-for-enhancing-polyethylenimine-mediated-gene-transfection
#13
Shi-Kun Zhang, Jin-Wen Song, Su-Bo Li, Hong-Wei Gao, Hong-Yu Chang, Li-Li Jia, Feng Gong, Ying-Xia Tan, Shou-Ping Ji
BACKGROUND: Poor endosomal release is a major barrier of polyplex-mediated gene transfection. Antimicrobial peptides (AMPs) are commonly used to improve polyethylenimine (PEI)-mediated gene transfection by increasing endosomal release. In the present study, we designed novel pH-sensitive peptides that highly enhance transfection efficiency compared to their parent peptides. METHODS: Two analogues of melittin (Mel) and RV-23 (RV) were synthesized by replacing the positively-charged residues in their sequences with glutamic acid residues...
May 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/28220983/clinical-and-molecular-cytogenetic-analyses-of-four-families-with-1q21-1-microdeletion-or-microduplication
#14
Hong-Dan Wang, Lin Liu, Dong Wu, Tao Li, Cun-Ying Cui, Lian-Zhong Zhang, Cheng-Zeng Wang
BACKGROUND: Little information is available regarding the penetrance of 1q21.1 copy number variants (CNVs). In the present study, we explored the clinical significance of 1q21.1 microdeletion or microduplication. METHODS: In four families, chromosome karyotype was analyzed using G-banding karyotype analysis technology. CNVs were detected using array-comparative genomic hybridization (aCGH) and then a quantitative polymerase chain reaction (qPCR) was used to validate candidate CNVs...
April 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/28316128/skewed-x-chromosome-inactivation-plays-a-crucial-role-in-the-onset-of-symptoms-in-carriers-of-becker-muscular-dystrophy
#15
Emanuela Viggiano, Esther Picillo, Manuela Ergoli, Alessandra Cirillo, Stefania Del Gaudio, Luisa Politano
BACKGROUND: Becker muscular dystrophy (BMD) is an X-linked recessive disorder affecting about 1:18,000 male births. Female carriers are usually asymptomatic, but 2.5-18% may present muscle or heart symptoms. In the present work the role of the X chromosome inactivation (XCI) on the onset of symptoms in BMD carriers was analysed and compared with the pattern observed in Duchenne muscular dystrophy (DMD) carriers. METHODS: XCI was determined on the lymphocytes of 36 BMD carriers - both symptomatic and not symptomatic - from 11 families requiring genetic advice at the Cardiomyology and Medical Genetics of the Second University of Naples, through the AR methylation-based assay...
March 18, 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/28306219/characterization-of-a-novel-pold1-missense-founder-mutation-in-a-spanish-population
#16
Rosario Ferrer-Avargues, Virginia Díez-Obrero, Ester Martín-Tomás, Eva Hernández-Illán, María-Isabel Castillejo, Alan Codoñer-Alejos, Víctor-Manuel Barberá, Ana-Beatriz Sánchez-Heras, Ángel Segura, María-José Juan, Isabel Tena, Adela Castillejo, José-Luis Soto
BACKGROUND: We identified a new and a recurrent POLD1 mutation associated with predisposition to colorectal cancer (CRC). We characterized the molecular and clinical nature of the potential POLD1 founder mutation in families from Valencia (Spain). METHODS: Clinical and molecular data were collected from 4 independent families known to have a POLD1 Leu474Pro mutation. To establish its founder effect, haplotype construction was performed using 14 flanking POLD1 polymorphic markers...
March 17, 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/28087981/humanized-chondroitinase-abc-sensitizes-glioblastoma-cells-to-temozolomide
#17
Alena Cristina Jaime-Ramirez, Nina Dmitrieva, Ji Young Yoo, Yeshavanth Banasavadi-Siddegowda, Jianying Zhang, Theresa Relation, Chelsea Bolyard, Jeffrey Wojton, Balveen Kaur
BACKGROUND: Malignant gliomas (glioblastomas; GBMs) are extremely aggressive and have a median survival of approximately 15 months. Current treatment modalities, which include surgical resection, radiation and chemotherapy, have done little to prolong the lives of GBM patients. Chondroitin sulfate proteoglycans (CSPG) are critical for cell-cell and cell-extracellular matrix (ECM) interactions and are implicated in glioma growth and invasion. Chondroitinase (Chase) ABC is a bacterial enzyme that cleaves chondroitin sulfate disaccharide chains from CSPGs in the tumor ECM...
March 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/28221712/discovery-of-myh14-as-an-important-and-unique-deafness-gene-causing-prelingually-severe-autosomal-dominant-non-syndromic-hearing-loss
#18
Bong Jik Kim, Ah Reum Kim, Jin Hee Han, Chung Lee, Doo Yi Oh, Byung Yoon Choi
BACKGROUND: Pathogenic variants of MYH14 have been known to be associated-in either a syndromic or non-syndromic manner-with hearing loss. Interestingly, all reported cases to date of MYH14-related non-syndromic hearing loss with detailed phenotypes have demonstrated mild-to-moderate progressive hearing loss with postlingual onset. METHODS: In this study, targeted resequencing (TRS) of known deafness genes was performed to identify the causative variant in two multiplex families segregating AD inherited hearing loss...
February 21, 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/28221705/association-of-igf1-gene-polymorphism-with-parkinson-s-disease-in-a-han-chinese-population
#19
Yousheng Xiao, Luan Cen, Mingshu Mo, Xiang Chen, Shuxuan Huang, Lei Wei, Shaomin Li, Xinling Yang, Shaogang Qu, Zhong Pei, Pingyi Xu
BACKGROUND: Accumulating evidence suggests that insulin-like growth factor 1 (IGF1) plays an important role in Parkinson's disease (PD) pathogenesis. However, it is not clear if IGF1 polymorphism contributes to PD risk. METHODS: We performed a case-control study in a Han Chinese population that included 512 sporadic PD cases and 535 matched controls. All participants were genotyped for rs972936 using the Sequenom MassARRAY iPLEX platform. Serum IGF1 levels of 61 de novo, drug-naïve PD patients, and 55 age- and sex-matched controls were also measured by enzyme-linked immunosorbent assay (ELISA)...
February 21, 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/28198160/oxidative-stress-gene-polymorphisms-may-have-impact-in-the-development-of-ischemic-stroke
#20
Bensu Karahalil, Aylin Elkama, Gürdal Orhan
INTRODUCTION: Antioxidants are responsible for detoxification of harmful effects of ROS. Genetic factors may influence antioxidant activity due to polymorphisms on antioxidant enzymes. These polymorphisms can be risk in ischemic stroke (IS) risk. IS is a disorder with genetic and environmental factors contributing to overall risk. Although there have been a few studies there have been no reports on Catalase; CAT C262T, manganese superoxide dismutase; MnSOD Ala16Val, glutathione peroxidase 1; GPX1 Pro198Leu gene polymorphisms and the risk of IS...
February 15, 2017: Journal of Gene Medicine
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