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https://www.readbyqxmd.com/read/28086981/does-antiretroviral-treatment-change-hiv-1-codon-usage-patterns-in-its-genes-a-preliminary-bioinformatics-study
#1
Navaneethan Palanisamy, Nathan Osman, Frédéric Ohnona, Hong-Tao Xu, Bluma Brenner, Thibault Mesplède, Mark A Wainberg
BACKGROUND: Codon usage bias has been described for various organisms and is thought to contribute to the regulation of numerous biological processes including viral infections. HIV-1 codon usage has been previously shown to be different from that of other viruses and man. It is evident that the antiretroviral drugs used to restrict HIV-1 replication also select for resistance variants. We wanted to test whether codon frequencies in HIV-1 sequences from treatment-experienced patients differ from those of treatment-naive individuals due to drug pressure affecting codon usage bias...
January 7, 2017: AIDS Research and Therapy
https://www.readbyqxmd.com/read/28081254/maternal-supply-of-cas9-to-zygotes-facilitates-the-efficient-generation-of-site-specific-mutant-mouse-models
#2
Alberto Cebrian-Serrano, Shijun Zha, Lars Hanssen, Daniel Biggs, Christopher Preece, Benjamin Davies
Genome manipulation in the mouse via microinjection of CRISPR/Cas9 site-specific nucleases has allowed the production time for genetically modified mouse models to be significantly reduced. Successful genome manipulation in the mouse has already been reported using Cas9 supplied by microinjection of a DNA construct, in vitro transcribed mRNA and recombinant protein. Recently the use of transgenic strains of mice overexpressing Cas9 has been shown to facilitate site-specific mutagenesis via maternal supply to zygotes and this route may provide an alternative to exogenous supply...
2017: PloS One
https://www.readbyqxmd.com/read/28081156/generation-of-a-stable-transgenic-swine-model-expressing-a-porcine-histone-2b-egfp-fusion-protein-for-cell-tracking-and-chromosome-dynamics-studies
#3
Renan B Sper, Sehwon Koh, Xia Zhang, Sean Simpson, Bruce Collins, Jeff Sommer, Robert M Petters, Ignacio Caballero, Jeff L Platt, Jorge A Piedrahita
Transgenic pigs have become an attractive research model in the field of translational research, regenerative medicine, and stem cell therapy due to their anatomic, genetic and physiological similarities with humans. The development of fluorescent proteins as molecular tags has allowed investigators to track cell migration and engraftment levels after transplantation. Here we describe the development of two transgenic pig models via SCNT expressing a fusion protein composed of eGFP and porcine Histone 2B (pH2B)...
2017: PloS One
https://www.readbyqxmd.com/read/28076580/-cag-n-polymorphism-of-the-atxn2-gene-a-new-marker-of-susceptibility-for-type-2-diabetes-mellitus
#4
Luis J Flores-Alvarado, Nory O Dávalos-Rodríguez, Diana García-Cruz, Perla M Madrigal-Ruiz, Rosalba Ruiz-Mejía, María E Aguilar-Aldrete, Nemesio Villa-Ruano, Sergio Alberto Ramirez-Garcia
Objective: Estimate whether there is an association between the (CAG)n repeat in the ATXN2 gene in the Mexican population and type 2 diabetes mellitus (DM). Methods: Epidemiological case-control study, including healthy people and diabetics. (CAG)n expansion was detected by end-point polymerase chain reaction (PCR). PCR outputs were analyzed by electrophoresis (PAGE 8%) and silver nitrate staining. Results: (CAG)n nucleotide allele distribution in the study population was similar to that reported in central Mexico...
November 2016: Revista Panamericana de Salud Pública, Pan American Journal of Public Health
https://www.readbyqxmd.com/read/28069792/targeting-ent1-and-adenosine-tone-for-the-treatment-of-huntington-s-disease
#5
Yu-Han Kao, Meng-Syuan Lin, Chiung-Mei Chen, Yih-Ru Wu, Hui-Mei Chen, Hsing-Lin Lai, Yijuang Chern, Chun-Jung Lin
Huntington's disease (HD) is caused by an abnormal CAG expansion in the exon 1 of huntingtin gene. The treatment of HD is an unmet medical need. Given the important role of adenosine in modulating brain activity, in this study, levels of adenosine and adenine nucleotides in the cerebral spinal fluid of patients with HD and in the brain of two mouse models of HD (R6/2 and Hdh(150Q)) were analysed. The expression and activity of ENT1 in the striatum of mice with HD were measured. Targeting adenosine tone for treating HD was examined in R6/2 mice by genetic removal of ENT1 and by giving an ENT1 inhibitor, respectively...
January 9, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28063138/are-biventricular-systolic-functions-impaired-in-patient-with-coronoray-slow-flow-a-prospective-study-with-three-dimensional-speckle-tracking
#6
Tuğba Kemaloğlu Öz, Mehmet Eren, Işıl Atasoy, Tayfun Gürol, Özer Soylu, Bahadır Dağdeviren
The newly developed three dimensional speckle-tracking echocardiography (3D-STE) technology provides quick and comprehensive quantitative assessment of biventricular myocardial dynamics. The impact of coronary slow flow phenomenon (CSFP) on biventricular functions has not been comprehensively evaluated using this new technology. Therefore, the aim of this study was to evaluate the effects of CSFP on biventricular systolic functions using 3D-STE. Forty patients with CSFP and otherwise normal coronary arteries (NCAs) and 40 age- and sex-matched controls with normal coronary angiograms (CAGs) were prospectively enrolled...
January 6, 2017: International Journal of Cardiovascular Imaging
https://www.readbyqxmd.com/read/28062965/patient-satisfaction-and-clinical-outcomes-following-414-breast-reductions-application-of-breast-q
#7
A Cogliandro, M Barone, G Cassotta, S Tenna, B Cagli, P Persichetti
BACKGROUND: The aim of this study was to measure breast satisfaction and quality of life using the BREAST-Q Reduction Module in a large sample of postoperative patients having breast reduction using the inverted T technique. METHODS: With due approval from the ethics committee of our university, 414 patients who were seen in consultation for breast reduction surgery between 2005 and 2015 performed by the same team were asked to fill out BREAST-Q surveys. The patient factors collected for all those undergoing breast reduction included age, body mass index, incision pattern, areola complex pedicle used, amount of tissue resected, concurrent procedures, and complications...
January 7, 2017: Aesthetic Plastic Surgery
https://www.readbyqxmd.com/read/28057411/helicobacter-pylori-a-paradigm-pathogen-for-subverting-host-cell-signal-transmission
#8
REVIEW
Michael Naumann, Olga Sokolova, Nicole Tegtmeyer, Steffen Backert
Helicobacter pylori colonizes the gastric mucosa in the human stomach and represents a major risk factor for peptic ulcer disease and gastric cancer. Here, we summarize our current knowledge of the complex impact of H. pylori on manipulating host signalling networks, that is, by the cag pathogenicity island (cagPAI)-encoded type IV secretion system (T4SS). We show that H. pylori infections reflect a paradigm for interspecies contact-dependent molecular communication, which includes the disruption of cell-cell junctions and cytoskeletal rearrangements, as well as proinflammatory, cell cycle-related, proliferative, antiapoptotic, and DNA damage responses...
January 2, 2017: Trends in Microbiology
https://www.readbyqxmd.com/read/28057092/-the-prenatal-genetic-diagnosis-of-a-family-with-complete-androgen-insensitivity-syndrome
#9
W Q Wu, Y Liu, Q Geng, F W Luo, W B Chen, H Yuan, J S Xie
Objective: To identify the Androgen Receptor (AR) gene mutation of one family with complete androgen insensitivity syndrome (CAIS) and to establish the methods of prenatal genetic diagnosis for CAIS. Methods: The AR gene exons of the family were amplified by PCR and sequenced directly. Linkage analysis was performed by using the CAG repeats in the exon1 of AR gene to assure accuracy of the prenatal diagnosis. Results: We found a frameshift mutation c. 2546del A (p. Asn849Ile fsX34) in the exon7 of AR gene in the proband...
December 20, 2016: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/28056233/-the-value-of-urinary-neutrophil-gelatinase-associated-lipocalin-for-early-diagnosis-of-contrast-induced-nephropathy
#10
W You, C L Qi, F Ye, S L Huang, D J Xie, Z M Wu, K Huang, K L Chen, T Y Huang, S L Chen
Objective: To explore the value of urinary neutrophil gelatinase-associated lipocalin (NGAL) for early diagnosis of contrast-induced nephropathy (CIN) in patients who underwent percutaneous coronary angiography (CAG) or percutaneous coronary intervention (PCI). Methods: From May 2015 to January 2016, 506 consecutive patients who underwent CAG or PCI in our hospital were enrolled in this prospective study. Patients were divided into CIN group (n=47) and non-CIN group (n=459). Clinical and interventional data were compared between the two groups...
December 24, 2016: Zhonghua Xin Xue Guan Bing za Zhi
https://www.readbyqxmd.com/read/28045213/longitudinal-diffusion-changes-in-prodromal-and-early-hd-evidence-of-white-matter-tract-deterioration
#11
Joseph J Shaffer, Ali Ghayoor, Jeffrey D Long, Regina Eun-Young Kim, Spencer Lourens, Lauren J O'Donnell, Carl-Fredrik Westin, Yogesh Rathi, Vincent Magnotta, Jane S Paulsen, Hans J Johnson
INTRODUCTION: Huntington's disease (HD) is a genetic neurodegenerative disorder that primarily affects striatal neurons. Striatal volume loss is present years before clinical diagnosis; however, white matter degradation may also occur prior to diagnosis. Diffusion-weighted imaging (DWI) can measure microstructural changes associated with degeneration that precede macrostructural changes. DWI derived measures enhance understanding of degeneration in prodromal HD (pre-HD). METHODS: As part of the PREDICT-HD study, N = 191 pre-HD individuals and 70 healthy controls underwent two or more (baseline and 1-5 year follow-up) DWI, with n = 649 total sessions...
January 3, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28038719/testosterone-as-a-marker-of-coronary-artery-disease-severity-in-middle-aged-males
#12
Kunal Gururani, John Jose, Paul V George
Historically, higher levels of serum testosterone were presumed deleterious to the cardiovascular system. In the last two decades, studies have suggested that low testosterone levels are associated with increased prevalence of risk factors for cardiovascular disease (CVD), including dyslipidemia and diabetes. This is a cross sectional study. The aim of our study was to determine the relationship between serum testosterone levels and angiographic severity of coronary artery disease (CAD). Serum testosterone levels were also correlated with flow mediated dilation of brachial artery (BAFMD) - an indicator of endothelial function...
December 2016: Indian Heart Journal
https://www.readbyqxmd.com/read/28032313/development-of-research-on-huntington-disease-in-china
#13
REVIEW
Hong-Lei Li, Yan-Bin Zhang, Zhi-Ying Wu
Huntington disease (HD) is a progressive autosomal dominantly inherited neurodegenerative disorder, characterized with the typical manifestations of involuntary movements, cognitive dysfunction, and psychiatric or behavioral disturbance. It results from an expansion in the number of CAG repeats in the first exon of the huntingtin (HTT) gene. In China, since the first case report in 1959, the knowledge of this disorder has been involving a lot, especially in the latest decade. In this review, we meta-analysis and summarize the research reports that were published by Chinese researchers since 1959, so that researchers whose native language were not Chinese can get a general idea of the research development of HD in China...
December 28, 2016: Neuroscience Bulletin
https://www.readbyqxmd.com/read/28027448/induced-pluripotent-hd-monkey-stem-cells-derived-neural-cells-for-drug-discovery
#14
Tanut Kunkanjanawan, Richard Carter, Kwan-Sung Ahn, Jinjing Yang, Rangsun Parnpai, Anthony W S Chan
Huntington's disease (HD) is a neurodegenerative disease caused by an expansion of CAG trinucleotide repeat (polyglutamine [polyQ]) in the huntingtin ( HTT) gene, which leads to the formation of mutant HTT (mHTT) protein aggregates. In the nervous system, an accumulation of mHTT protein results in glutamate-mediated excitotoxicity, proteosome instability, and apoptosis. Although HD pathogenesis has been extensively studied, effective treatment of HD has yet to be developed. Therapeutic discovery research in HD has been reported using yeast, cells derived from transgenic animal models and HD patients, and induced pluripotent stem cells from patients...
December 1, 2016: Journal of Biomolecular Screening
https://www.readbyqxmd.com/read/28025702/characteristics-of-gastric-cancer-in-negative-test-of-serum-anti-helicobacter-pylori-antibody-and-pepsinogen-test-a-multicenter-study
#15
Mariko Kiso, Masaharu Yoshihara, Masanori Ito, Kazuhiko Inoue, Katsuaki Kato, Shigemi Nakajima, Katsuhiro Mabe, Masao Kobayashi, Naomi Uemura, Tomoyuki Yada, Masashi Oka, Takashi Kawai, Tomoyuki Boda, Takahiro Kotachi, Kazuhiko Masuda, Shinji Tanaka, Kazuaki Chayama
BACKGROUND AND AIM: The serological risk prediction system combines the pepsinogen test and anti-Helicobacter pylori (H. pylori) antibody determination. In this system, chronic atrophic gastritis (CAG) is diagnosed using the pepsinogen test. Patients who are H. pylori negative and pepsinogen negative are classified into group A, are assumed to be H. pylori uninfected, and are at an extremely low risk for gastric cancer. However, gastric cancers are detected in this group. The aim of this study is to clarify the clinicopathological status of group A patients with gastric cancer...
December 26, 2016: Gastric Cancer
https://www.readbyqxmd.com/read/28024997/androgen-receptor-ar-gene-cag-n-and-ggn-n-length-polymorphisms-and-symptoms-in-young-males-with-long-lasting-adverse-effects-after-finasteride-use-against-androgenic-alopecia
#16
Sabina Cauci, Giovanni Chiriacò, Erika Cecchin, Giuseppe Toffoli, Serena Xodo, Giuseppe Stinco, Carlo Trombetta
INTRODUCTION: Long-term adverse symptoms of men who used oral finasteride against androgenic alopecia have been recently described as post-finasteride syndrome (PFS). AIM: To determine whether (CAG)n-rs4045402 and (GGN)n-rs3138869 polymorphisms in the androgen receptor (AR) gene are implicated in PFS. METHODS: AR polymorphisms were studied according to PFS symptoms in 66 white participants (31.8% Italian, 28.8% American, and 39.4% other). MAIN OUTCOME MEASURES: Symptoms were investigated by an ad hoc 100-item questionnaire and the Arizona Sexual Experience Scale and Aging Male Symptom Scale (AMS)...
December 23, 2016: Sexual Medicine
https://www.readbyqxmd.com/read/28018166/motor-dysfunctions-and-neuropathology-in-mouse-models-of-spinocerebellar-ataxia-type-2-a-comprehensive-review
#17
REVIEW
João M Da Conceição Alves-Cruzeiro, Liliana Mendonça, Luís Pereira de Almeida, Clévio Nóbrega
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant ataxia caused by an expansion of CAG repeats in the exon 1 of the gene ATXN2, conferring a gain of toxic function that triggers the appearance of the disease phenotype. SCA2 is characterized by several symptoms including progressive gait ataxia and dysarthria, slow saccadic eye movements, sleep disturbances, cognitive impairments, and psychological dysfunctions such as insomnia and depression, among others. The available treatments rely on palliative care, which mitigate some of the major symptoms but ultimately fail to block the disease progression...
2016: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28017481/atxn2-trinucleotide-repeat-length-correlates-with-risk-of-als
#18
William Sproviero, Aleksey Shatunov, Daniel Stahl, Maryam Shoai, Wouter van Rheenen, Ashley R Jones, Safa Al-Sarraj, Peter M Andersen, Nancy M Bonini, Francesca L Conforti, Philip Van Damme, Hussein Daoud, Maria Del Mar Amador, Isabella Fogh, Monica Forzan, Ben Gaastra, Cinzia Gellera, Aaron D Gitler, John Hardy, Pietro Fratta, Vincenzo La Bella, Isabelle Le Ber, Tim Van Langenhove, Serena Lattante, Yi-Chung Lee, Andrea Malaspina, Vincent Meininger, Stéphanie Millecamps, Richard Orrell, Rosa Rademakers, Wim Robberecht, Guy Rouleau, Owen A Ross, Francois Salachas, Katie Sidle, Bradley N Smith, Bing-Wen Soong, Gianni Sorarù, Giovanni Stevanin, Edor Kabashi, Claire Troakes, Christine van Broeckhoven, Jan H Veldink, Leonard H van den Berg, Christopher E Shaw, John F Powell, Ammar Al-Chalabi
We investigated a CAG trinucleotide repeat expansion in the ATXN2 gene in amyotrophic lateral sclerosis (ALS). Two new case-control studies, a British dataset of 1474 ALS cases and 567 controls, and a Dutch dataset of 1328 ALS cases and 691 controls were analyzed. In addition, to increase power, we systematically searched PubMed for case-control studies published after 1 August 2010 that investigated the association between ATXN2 intermediate repeats and ALS. We conducted a meta-analysis of the new and existing studies for the relative risks of ATXN2 intermediate repeat alleles of between 24 and 34 CAG trinucleotide repeats and ALS...
November 24, 2016: Neurobiology of Aging
https://www.readbyqxmd.com/read/28017238/association-of-glutathione-s-transferase-omega-polymorphism-and-spinocerebellar-ataxia-type-2
#19
Luis E Almaguer-Mederos, Dennis Almaguer-Gotay, Raúl Aguilera-Rodríguez, Yanetza González-Zaldívar, Dany Cuello-Almarales, José Laffita-Mesa, Yaimé Vázquez-Mojena, Pedro Zayas-Feria, Roberto Rodríguez-Labrada, Luis Velázquez-Pérez, Patrick MacLeod
BACKGROUND: Spinocerebellar ataxia type 2 is a neurodegenerative disorder caused by a CAG repeat expansion in ATXN2 gene. There is high clinical variability among affected patients suggesting the occurring of modifier genes influencing the clinical phenotype. OBJECTIVE: The objective is to assess the association of GSTO1 rs4925 and GSTO2 rs2297235 SNPs on the clinical phenotype in SCA2 patients. METHODS: A case-control study was performed in a sample of 120 SCA2 Cuban patients and 100 healthy subjects...
January 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28011701/use-of-pan-genome-analysis-for-the-identification-of-lineage-specific-genes-of-helicobacter-pylori
#20
Arnoud H M van Vliet
The human bacterial pathogen Helicobacter pylori has a highly variable genome, with significant allelic and sequence diversity between isolates and even within well-characterised strains, hampering comparative genomics of H. pylori In this study, pan-genome analysis has been used to identify lineage-specific genes of H. pylori A total of 346 H. pylori genomes spanning the hpAfrica1, hpAfrica2, hpAsia2, hpEurope, hspAmerind and hspEAsia multilocus sequence typing (MLST) lineages were searched for genes specifically over- or underrepresented in MLST lineages or associated with the cag pathogenicity island (PAI)...
December 22, 2016: FEMS Microbiology Letters
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