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Journal of Gene Medicine

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https://www.readbyqxmd.com/read/28474840/cox2-and-nos3-gene-polymorphisms-in-women-with-gestational-diabetes
#1
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/28444911/response-to-the-letter-to-the-editor-by-d-yuan-risk-of-high-altitude-pulmonary-edema-and-telomere-length
#2
LETTER
Dongya Yuan
No abstract text is available yet for this article.
April 26, 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
#3
Sarah Urnauer, Kathrin Klutz, Geoffrey K Grünwald, Stephan Morys, Nathalie Schwenk, Christian Zach, Franz-Josef Gildehaus, Wolfgang Roedl, Manfred Ogris, Ernst Wagner, Christine Spitzweg
BACKGROUND: Non-viral polymer-based gene transfer represents an adaptable system for tumor-targeted gene therapy, as 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 theranostic gene, non-viral gene delivery vehicles based on linear polyethylenimine (LPEI), polyethylene glycol (PEG) and coupled with the synthetic peptide B6 (LPEI-PEG-B6), which specifically binds to tumor cells, were investigated in a hepatocellular carcinoma (HCC) xenograft model for tumor-selectivity and transduction efficiency...
April 19, 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/28387446/polymorphisms-in-the-srnpn-gene-are-associated-with-obesity-susceptibility-among-spanish-population
#4
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 this study we aim to assess whether variability within this gene could be implicated in obesity susceptibility. MATERIAL AND METHODS: A case-control study was performed including 265 unrelated patients with non-syndromic 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...
April 7, 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/28370835/design-of-ph-sensitive-peptides-from-natural-antimicrobial-peptides-for-enhancing-polyethylenimine-pei-mediated-gene-transfection
#5
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 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...
April 1, 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
#6
REVIEW
Akshaya Krishnagopal, Aakash Reddy, Dwaipayan Sen
AIM: This article concisely recapitulates the different existing modes of stent mediated gene/drug delivery, their considerable advancements in clinical trials and a rationale of other merging new technologies such as nanotechnology and microRNA based therapeutics, furthermore addressing the breach in each of these perpetual stent platforms. DISCUSSION: Over the past decade stent mediated gene/drug delivery have materialized as a hopeful alternative for cardiovascular disease and cancer in contrast to the routine conventional treatment modalities...
March 31, 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
#7
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
#8
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/28220983/clinical-and-molecular-cytogenetic-analyses-of-four-families-with-1q21-1-microdeletion-or-microduplication
#9
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/28087981/humanized-chondroitinase-abc-sensitizes-glioblastoma-cells-to-temozolomide
#10
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
#11
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
#12
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
#13
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
https://www.readbyqxmd.com/read/28190280/association-of-expression-of-selenoprotein-p-in-mrna-and-protein-levels-with-metabolic-syndrome-in-subjects-with-cardiovascular-disease-results-of-selenegene-study
#14
Mojgan Gharipour, Masoumeh Sadeghi, Mansour Salehi, Mehrdad Behmanesh, Elham Khosravi, Minoo Dianatkhah, Rouzbeh Razavi, Amin Gharipour
BACKGROUND/OBJECTIVES: Selenoprotein P (SeP) is involved in transporting selenium from the liver to target tissues. As SeP confers protection against disease by reducing chronic oxidative stress, this study aims to assess the level of SeP in the serum of patients with metabolic syndrome (MetS) with a history of cardiovascular disease (CVD). SUBJECTS/METHODS: A cross-sectional study was conducted on 63 and 71 subjects with and without MetS in the presence of documented CVD...
February 11, 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/28181342/mrna-destabilization-improves-glycemic-responsiveness-of-transcriptionally-regulated-hepatic-insulin-gene-therapy-in-vitro-and-in-vivo
#15
Peter M Thulé, Yulin Lin, Dingwu Jia, Darin E Olson, Shiue-Cheng Tang, Athanassios Sambanis
BACKGROUND: Hepatic insulin gene therapy (HIGT) employing a glucose and insulin sensitive promoter to direct insulin transcription can lower blood sugars within 2 hours of an intra-peritoneal glucose challenge. However, post-challenge blood sugars frequently decline to below baseline. We hypothesize that this "over-shoot" hypoglycemia results from sustained translation of long-lived transgene message, and that reducing pro-insulin message half-life will ameliorate post-challenge hypoglycemia...
February 8, 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/28095637/gene-therapy-for-achromatopsia
#16
REVIEW
Stylianos Michalakis, Christian Schön, Elvir Becirovic, Martin Biel
AIM: This review summarizes the current status of Achromatopsia (ACHM) gene therapy-related research activities and provides an outlook for their clinical application. DISCUSSION: ACHM is an inherited eye disease characterized by congenital absence of cone photoreceptor function. As a consequence, ACHM is associated with strongly impaired daylight vision, photophobia, nystagmus, and lack of color discrimination. Currently, six genes have been linked to ACHM. Up to 80% of the patients carry mutations in the genes CNGA3 and CNGB3 encoding the two subunits of the cone cyclic nucleotide-gated (CNG) channel...
January 17, 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/28035729/association-of-the-hnf1a-polymorphisms-and-serum-lipid-traits-the-risk-of-coronary-artery-disease-and-ischemic-stroke
#17
Yi-Jiang Zhou, Rui-Xing Yin, Shao-Cai Hong, Qian Yang, Xiao-Li Cao, Wu-Xian Chen
BACKGROUND: Hepatocyte nuclear factor-1α gene (HNF1A) single nucleotide polymorphisms (SNPs) have been associated with serum lipid traits in several previous genome-wide association studies. However, little is known about such associations in the Chinese populations. The present study aimed to determine the association of the HNF1A rs1169288, rs2259820, rs2464196 and rs2650000 SNPs and serum lipid traits, the risk of coronary artery disease (CAD) and ischemic stroke (IS). METHODS: The genotypes of the four SNPs in 562 CAD and 521 IS patients, as well as 594 healthy controls, were detected using the Snapshot technology...
January 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/28009940/an-in-vivo-transfection-system-for-inducible-gene-expression-and-gene-silencing-in-murine-hepatocytes
#18
Eric K Hubner, Christian Lechler, Birgit Kohnke-Ertel, Anne-Flore Zmoos, Julien Sage, Roland M Schmid, Ursula Ehmer
BACKGROUND: Hydrodynamic tail vein injection (HTVI) of transposon-based integration vectors is an established system for stably transfecting mouse hepatocytes in vivo that has been successfully employed to study key questions in liver biology and cancer. Refining the vectors for transposon-mediated hepatocyte transfection will further expand the range of applications of this technique in liver research. In the present study, we report an advanced transposon-based system for manipulating gene expression in hepatocytes in vivo...
January 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/27976820/integration-of-expression-quantitative-trait-loci-and-pleiotropy-identifies-a-novel-psoriasis-susceptibility-gene-ptpn1
#19
Xianyong Yin, Yuan Lin, Changbing Shen, Ling Wang, Xianbo Zuo, Xiaodong Zheng, Sen Yang, Jianjun Liu, Kirk C Wilhelmsen, Xuejun Zhang
BACKGROUND: Psoriasis is a common inflammatory skin disease, whereas schizophrenia is a psychiatric disorder with substantial comorbidity. Although these two disorders manifest with apparently unrelated phenotypes, there is some evidence suggesting that they share common genetic factors. METHODS: We implemented a genetic analysis incorporating pleiotropy and annotation to genome-wide association summary statistics data for approximately 120 000 psoriasis and schizophrenia samples, as well as whole blood expression quantitative trait loci in 5311 samples...
January 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/27936511/znf208-polymorphisms-associated-with-ischemic-stroke-in-a-southern-chinese-han-population
#20
Jianzhong Yu, Feng Zhou, Dong Luo, Nianzhen Wang, Chong Zhang, Tianbo Jin, Xiongfei Liang, Dan Yu
BACKGROUND: Ischemic stroke is one of the most common diseases with a high burden of neurological deficits, disability and death. Zinc finger protein 208 (ZNF208) was found to be involved in coronary heart disease, although little information is available about its association with ischemic stroke. We performed the present case-control study to clarify the association between single-nucleotide polymorphisms (SNPs) within ZNF208 and the risk of ischemic stroke in a southern Chinese Han population...
January 2017: Journal of Gene Medicine
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