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Journal of Gene Medicine

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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
#1
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
#2
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/28221712/discovery-of-myh14-as-an-important-and-unique-deafness-gene-causing-prelingually-severe-autosomal-dominant-non-syndromic-hearing-loss
#3
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
#4
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/28220983/clinical-and-molecular-cytogenetic-analyses-of-four-families-with-1q21-1-microdeletion-or-microduplication
#5
Hong-Dan Wang, Lin Liu, Dong Wu, Tao Li, Cun-Ying Cui, Lian-Zhong Zhang, Cheng-Zeng Wang
BACKGROUND: Little information is available regarding penetrance of the 1q21.1 copy number variants (CNVs). 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 quantitative polymerase chain reaction (qPCR) was used to validate candidate CNVs. Sequence signature in the breakpoint region was analyzed using UCSC databases...
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
#6
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
#7
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
#8
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
#9
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/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-Blessing, Jeffrey Wojton, Balveen Kaur
INTRODUCTION: Malignant gliomas (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-extra cellular 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...
January 14, 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
#11
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
#12
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
#13
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
#14
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
https://www.readbyqxmd.com/read/27936486/microrna-4656-is-a-prognostic-factor-and-tumor-suppressor-in-human-pancreatic-cancer-through-a-downstream-target-of-trka
#15
Xianglong Tan, Jinyong Lv, Guodong Zhao, Zhiming Zhao, Chenggang Li, Yong Xu, Minggen Hu
BACKGROUND: In the present study, we investigated the expression profile and functional mechanism of microRNA-4656 in human pancreatic cancer (PC). METHODS: MiR-4656 expression in PC tumors was examined using a quantitative reverse transcriptase-polymerase chain reaction in 134 patients. Associations between tumorous miR-4656 expression and clinicopathological parameters of patients, as well as overall survival, were analyzed. MiR-4656 expression was also examined in PC in vitro cell lines...
January 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/27928896/genomic-data-integration-in-chronic-lymphocytic-leukemia
#16
Juan Luis Fernández-Martínez, Enrique J deAndrés-Galiana, Stephen T Sonis
BACKGROUND: B-cell chronic lymphocytic leukemia (CLL) is a heterogeneous disease and the most common adult leukemia in western countries. IgVH mutational status distinguishes two major types of CLL, each associated with a different prognosis and survival. Sequencing identified NOTCH1 and SF3B1 as the two main recurrent mutations. We described a novel method to clarify how these mutations affect gene expression by finding small-scale signatures that predict the IgVH, NOTCH1 and SF3B1 mutations...
January 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/27813254/microrna-107-is-downregulated-and-having-tumor-suppressive-effect-in-breast-cancer-by-negatively-regulating-bdnf
#17
Bo Gao, Shuai Hao, Wuguo Tian, Yan Jiang, Mei Zhang, Lingjie Guo, Jianjie Zhao, Gang Zhang, Jie Yan, Donglin Luo
PURPOSE: We investigated the possible tumor suppressive effect of microRNA-107 (miR-107) in human breast cancer. METHODS: Gene expression of miR-107 in breast cancer cell lines and clinical breast tissues were evaluated by qRT-PCR. MiR-107 was stably overexpressed in MCF-7 and MDA-MB-231 cells through lentiviral transduction. Its role in regulating in vitro cancer proliferation, cell cycle, invasion and in vivo tumor growth was evaluated by MTT, flow-cytometry, transwell and in vivo tumorigenicity assays, respectively...
November 3, 2016: Journal of Gene Medicine
https://www.readbyqxmd.com/read/27886420/posterior-tibial-tendinopathy-associated-with-matrix-metalloproteinase-13-promoter-genotype-and-haplotype
#18
REVIEW
Francielle Boçon de Araujo Munhoz, José Eduardo Baroneza, Alexandre Godoy-Santos, Túlio Diniz Fernandes, Filipe Polese Branco, Lupe Furtado Alle, Ricardo Lehtonen de Souza, Maria Cristina Leme Godoy Dos Santos
BACKGROUND: Posterior tibial tendon (PTT) is particularly vulnerable and its insufficiency is recognized as the main cause of adult acquired flat foot. Some patients have a predisposition without a clinically recognized cause, suggesting that individual characteristics play an important role in tendinopathy. The present study investigated whether genetic variants in matrix metalloproteinases (MMPs) are associated with PTT dysfunction. METHODS: One hundred women who presented PTT dysfunction, with histopathological examination of the tendon and magnetic resonance imaging (MRI) confirming tendinopathy, as well as 100 asymptomatic women who presented intact PPT as assessed by MRI and constituting the control group, were evaluated for MMP-13 g...
November 2016: Journal of Gene Medicine
https://www.readbyqxmd.com/read/27886419/functional-characterization-of-a-novel-loss-of-function-mutation-of-prps1-related-to-early-onset-progressive-nonsyndromic-hearing-loss-in-koreans-dfnx1-potential-implications-on-future-therapeutic-intervention
#19
So Young Kim, Ah Reum Kim, Nayoung K D Kim, Chung Lee, Jin Hee Han, Min Young Kim, Eun-Hee Jeon, Woong-Yang Park, Rahul Mittal, Denise Yan, Xue Zhong Liu, Byung Yoon Choi
BACKGROUND: The symptoms of phosphoribosyl pyrophosphate synthetase 1 (PRPS1) deficiency diseases have been reported to be alleviated by medication. In the present study, we report biochemical data that favor PRPS1 deficiency-related hearing loss as a potential target for pharmaceutical treatment. METHODS: We recruited 42 probands from subjects aged less than 15 years with a moderate degree of nonsyndromic autosomal-recessive or sporadic sensorineural hearing loss (SNHL) in at least one side...
November 2016: Journal of Gene Medicine
https://www.readbyqxmd.com/read/27794198/glomeruli-or-interstitium-targeted-by-inter-renal-injections-supplemented-by-electroporation-still-a-useful-tool-in-renal-research
#20
Xing Mao, Fang Li, Nianji Yang, Chenyang Qi, Steven Qian Zhang, Zhigang Zhang, Huijuan Wu
BACKGROUND: Studies concerning proteins are always a crucial part of renal research. As a result of current technologies, scientists have mastered several techniques for generating genetically modified animals. However, in most cases, accessing these animals is still time-consuming and often expensive. This makes the alteration of protein expression by in vivo plasmid transfection an easily-accessible alternative. However, there is still no comprehensive study describing where plasmids would be expressed when they are injected into the kidneys...
November 2016: Journal of Gene Medicine
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