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https://www.readbyqxmd.com/read/28642124/identification-of-genetic-variants-associated-with-huntington-s-disease-progression-a-genome-wide-association-study
#1
Davina J Hensman Moss, Antonio F Pardiñas, Douglas Langbehn, Kitty Lo, Blair R Leavitt, Raymund Roos, Alexandra Durr, Simon Mead, Peter Holmans, Lesley Jones, Sarah J Tabrizi
BACKGROUND: Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available. Therefore, we aimed to generate a novel measure of disease progression and to identify genetic markers associated with this progression measure. METHODS: We generated a progression score on the basis of principal component analysis of prospectively acquired longitudinal changes in motor, cognitive, and imaging measures in the 218 indivduals in the TRACK-HD cohort of Huntington's disease gene mutation carriers (data collected 2008-11)...
June 19, 2017: Lancet Neurology
https://www.readbyqxmd.com/read/28640128/association-between-polymorphic-cag-repeat-lengths-in-the-androgen-receptor-gene-and-susceptibility-to-prostate-cancer-a-systematic-review-and-meta-analysis
#2
Zhiqiang Qin, Xiao Li, Peng Han, Yuxiao Zheng, Hanyu Liu, Jingyuan Tang, Chengdi Yang, Jianzhong Zhang, Kunpeng Wang, Xiaokang Qi, Min Tang, Wei Wang, Wei Zhang
BACKGROUND: Previous studies have been conducted to reveal the relationship between androgen receptor CAG polymorphism and risk of prostate cancer, yet the results were elusive and controversial. Thus, this meta-analysis was performed to clarify this association. METHODS: To obtain the relevant available studies, online databases PubMed, Embase, and Web of science were searched until September 1st, 2016. The pooled odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the strength of such association...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28639567/spontaneous-coronary-artery-dissection-as-a-cause-of-acute-myocardial-infarction-in-young-female-population-a-single-center-study
#3
Pei-Na Meng, Chen Xu, Wei You, Zhi-Ming Wu, Du-Jiang Xie, Hang Zhang, Chang Pan, Fei Ye
BACKGROUND: Spontaneous coronary artery dissection (SCAD) is a nonatherosclerotic but a rare and extremely dangerous clinical entity, it has a high prevalence in young female population with acute myocardial infarction (AMI). The previous reports were restricted to other countries' population, but rare in China. Hence, this study aimed to focus on the characteristics of SCAD as a cause of young female AMI population in Jiangsu, China. METHODS: This study enrolled young female AMI patients aged ≤50 years who underwent coronary angiography (CAG) and intracoronary imaging in our center between January 2013 and December 2016...
July 5, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28639241/huntington-s-disease-and-mitochondria
#4
REVIEW
Mohammad Jodeiri Farshbaf, Kamran Ghaedi
Huntington's disease (HD) as an inherited neurodegenerative disorder leads to neuronal loss in striatum. Progressive motor dysfunction, cognitive decline, and psychiatric disturbance are the main clinical symptoms of the HD. This disease is caused by expansion of the CAG repeats in exon 1 of the huntingtin which encodes Huntingtin protein (Htt). Various cellular and molecular events play role in the pathology of HD. Mitochondria as important organelles play crucial roles in the most of neurodegenerative disorders like HD...
June 21, 2017: Neurotoxicity Research
https://www.readbyqxmd.com/read/28637431/continuous-long-term-cytotoxicity-monitoring-in-3d-spheroids-of-beetle-luciferase-expressing-hepatocytes-by-nondestructive-bioluminescence-measurement
#5
Mayu Yasunaga, Yasuko Fujita, Rumiko Saito, Mitsuo Oshimura, Yoshihiro Nakajima
BACKGROUND: Three-dimensional (3D) spheroids are frequently used in toxicological study because their morphology and function closely resemble those of tissue. As these properties are maintained over a long term, repeated treatment of the spheroids with a test object is possible. Generally, in the repeated treatment test to assess cytotoxicity in the spheroids, ATP assay, colorimetric measurement using pigments or high-content imaging analysis is performed. However, continuous assessment of cytotoxicity in the same spheroids using the above assays or analysis is impossible because the spheroids must be disrupted or killed...
June 20, 2017: BMC Biotechnology
https://www.readbyqxmd.com/read/28634700/management-of-tuberous-breast-deformities-review-of-long-term-outcomes-and-patient-satisfaction-with-breast-q
#6
Stefania Tenna, Barbara Cagli, Beniamino Brunetti, Mauro Barone, Paolo Persichetti
BACKGROUND: The treatment of a tuberous breast deformity has changed over the years, with a large variety of procedures described. However, maintaining a long-lasting breast contour is an ongoing challenge. The aim of this study was to evaluate the long-term results of tuberous breast corrections, focusing on the incidence of secondary procedures and patient satisfaction. MATERIALS AND METHODS: Forty-six patients who underwent correction of a tuberous breast deformity from 2000 through 2013 were considered...
June 20, 2017: Aesthetic Plastic Surgery
https://www.readbyqxmd.com/read/28632780/metformin-intake-associates-with-better-cognitive-function-in-patients-with-huntington-s-disease
#7
David Hervás, Victoria Fornés-Ferrer, Ana Pilar Gómez-Escribano, María Dolores Sequedo, Carmen Peiró, José María Millán, Rafael P Vázquez-Manrique
Huntington's disease (HD) is an inherited, dominant neurodegenerative disorder caused by an abnormal expansion of CAG triplets in the huntingtin gene (htt). Despite extensive efforts to modify the progression of HD thus far only symptomatic treatment is available. Recent work suggests that treating invertebrate and mice HD models with metformin, a well-known AMPK activator which is used worldwide to treat type 2-diabetes, reduces mutant huntingtin from cells and alleviates many of the phenotypes associated to HD...
2017: PloS One
https://www.readbyqxmd.com/read/28631728/acg-and-cag-clinical-guideline-management-of-dyspepsia
#8
Paul M Moayyedi, Brian E Lacy, Christopher N Andrews, Robert A Enns, Colin W Howden, Nimish Vakil
We have updated both the American College of Gastroenterology (ACG) and the Canadian Association of Gastroenterology (CAG) guidelines on dyspepsia in a joint ACG/CAG dyspepsia guideline. We suggest that patients ≥60 years of age presenting with dyspepsia are investigated with upper gastrointestinal endoscopy to exclude organic pathology. This is a conditional recommendation and patients at higher risk of malignancy (such as spending their childhood in a high risk gastric cancer country or having a positive family history) could be offered an endoscopy at a younger age...
June 20, 2017: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/28628231/gene-therapy-decreases-seizures-in-a-model-of-incontinentia-pigmenti
#9
Godwin K Dogbevia, Kathrin Töllner, Jakob Körbelin, Sonja Bröer, Dirk A Ridder, Hanna Grasshoff, Claudia Brandt, Jan Wenzel, Beate K Straub, Martin Trepel, Wolfgang Löscher, Markus Schwaninger
OBJECTIVE: Incontinentia pigmenti (IP) is a genetic disease leading to severe neurological symptoms, such as epileptic seizures, but no specific treatment is available. IP is caused by pathogenic variants that inactivate the Nemo gene. Replacing Nemo through gene therapy might provide therapeutic benefits. METHODS: In a mouse model of IP we administered a single intravenous dose of the AAV vector AAV-BR1-CAG-NEMO delivering the Nemo gene to the brain endothelium...
June 19, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28627366/pqbp1-an-intrinsically-disordered-denatured-protein-at-the-crossroad-of-intellectual-disability-and-neurodegenerative-diseases
#10
REVIEW
Hitoshi Okazawa
PQBP1 (polyglutamine binding protein-1) is the earliest identified molecule among the group of disease-related intrinsically disordered/denatured proteins. PQBP1 interacts with splicing-related factors via the disordered/denatured domain and regulates post-transcriptional gene expression. The mutations cause intellectual disability due to decreased dendritic spines and abnormal expression of synapse molecules in neurons, and microcephaly due to elongated cell cycle time and abnormal expression of cell cycle proteins in neural stem progenitor cells...
June 13, 2017: Neurochemistry International
https://www.readbyqxmd.com/read/28624196/evaluation-of-antisense-oligonucleotides-targeting-atxn3-in-sca3-mouse-models
#11
Lauren R Moore, Gautam Rajpal, Ian T Dillingham, Maya Qutob, Kate G Blumenstein, Danielle Gattis, Gene Hung, Holly B Kordasiewicz, Henry L Paulson, Hayley S McLoughlin
The most common dominantly inherited ataxia, spinocerebellar ataxia type 3 (SCA3), is an incurable neurodegenerative disorder caused by a CAG repeat expansion in the ATXN3 gene that encodes an abnormally long polyglutamine tract in the disease protein, ATXN3. Mice lacking ATXN3 are phenotypically normal; hence, disease gene suppression offers a compelling approach to slow the neurodegenerative cascade in SCA3. Here we tested antisense oligonucleotides (ASOs) that target human ATXN3 in two complementary mouse models of SCA3: yeast artificial chromosome (YAC) MJD-Q84...
June 16, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28621832/break-induced-replication-links-microsatellite-expansion-to-complex-genome-rearrangements
#12
REVIEW
Michael Leffak
The instability of microsatellite DNA repeats is responsible for at least 40 neurodegenerative diseases. Recently, Mirkin and co-workers presented a novel mechanism for microsatellite expansions based on break-induced replication (BIR) at sites of microsatellite-induced replication stalling and fork collapse. The BIR model aims to explain single-step, large expansions of CAG/CTG trinucleotide repeats in dividing cells. BIR has been characterized extensively in Saccharomyces cerevisiae as a mechanism to repair broken DNA replication forks (single-ended DSBs) and degraded telomeric DNA...
June 16, 2017: BioEssays: News and Reviews in Molecular, Cellular and Developmental Biology
https://www.readbyqxmd.com/read/28621522/formation-and-structure-of-wild-type-huntingtin-exon-1-fibrils
#13
J Mario Isas, Andreas Langen, Myles C Isas, Nitin Kumar Pandey, Ansgar B Siemer
The fact that the heritable neurodegenerative disorder Huntington's Disease (HD) is autosomal dominant means that there is one wild type and one mutant allele in most HD patients. The CAG repeat expansion in the exon 1 of the protein huntingtin (HTTex1) that causes the disease, leads to the formation of HTT fibrils in vitro and vivo. An important question for understanding the molecular mechanism of HD is which role wild type HTT plays for the formation, propagation, and structure of these HTT fibrils. Here we report that fibrils of mutant HTTex1 are able to seed the aggregation of wild type HTTex1 into amyloid fibrils which in turn can seed the fibril formation of mutant HTTex1...
June 16, 2017: Biochemistry
https://www.readbyqxmd.com/read/28620135/ammonium-glycyrrhizin%C3%A2-counteracts-liver-injury-caused-by-lipopolysaccharide-amoxicillin-clavulanate-potassium
#14
Zugong Yu, Feng Wu, Jing Tian, Xuewen Guo, Ran An, Yangyang Guo
We treated isolated chicken primary hepatocytes with lipopolysaccharide/amoxicillin clavulanate potassium (LPS/AC) to model liver injury and investigate its underlying mechanisms. We also used this model to assess the cytoprotective effects of compound ammonium glycyrrhizin (CAG) in vitro. LPS/AC-induced injury decreased cell viability and increased the activity of serum aspartate transaminase and alanine transaminase. Levels of superoxide dismutase, glutathione, and glutathione peroxidase were lower than control, while levels of the oxidative product malondialdehyde and reactive oxygen species were higher...
May 30, 2017: Oncotarget
https://www.readbyqxmd.com/read/28617590/structure-and-dynamics-of-rna-repeat-expansions-that-cause-huntington-s-disease-and-myotonic-dystrophy-type-1
#15
Jonathan L Chen, Damian M VanEtten, Matthew A Fountain, Ilyas Yildirim, Matthew D Disney
RNA repeat expansions cause a host of incurable, genetically-defined diseases. The most common class of RNA repeats are trinucleotide repeats. These long, repeating transcripts fold into hairpins containing 1 × 1 internal loops that can mediate disease via a variety of mechanism(s) in which RNA is the central player. Two of these disorders are Huntington's disease and myotonic dystrophy type 1, which are caused by r(CAG) and r(CUG) repeats, respectively. We report the structures of two RNA constructs containing three copies of a r(CAG) [r(3×CAG)] or r(CUG) [r(3×CUG)] motif that were modeled with nuclear magnetic resonance spectroscopy and simulated annealing with restrained molecular dynamics...
June 15, 2017: Biochemistry
https://www.readbyqxmd.com/read/28613427/clinical-anatomy-of-the-anterior-chamber-angle-in-congenital-aniridia-and-consequences-for-trabeculotomy-cyclophotocoagulation
#16
Arne Viestenz, Berthold Seitz, Eva Deland, Miltiadis Fiorentzis, Lorenz Latta, Anja Viestenz, Barbara Käsmann-Kellner
INTRODUCTION: Intraocular pressure (IOP) lowering surgery in congenital aniridia glaucoma (CAG) can be complicated by dysgenesis of the limbal region, anterior chamber angle, iris and lens. METHODS: The anterior segments of 23 eyes (17 patients) with congenital aniridia were investigated under general anesthesia using ultrasound biomicroscopy (UBM). The structures of the anterior segment were examined: distance of ciliary body processes from the anterior chamber angle and positioning of Schlemm's canal...
June 14, 2017: Clinical Anatomy
https://www.readbyqxmd.com/read/28612908/association-between-fractional-flow-reserve-and-duke-treadmill-score-in-patients-with-single-vessel-disease
#17
Süleyman Kalaycı, Belma Kalaycı, Ekrem Şahan, Asiye Ayça Ayyılmaz Boyacı
BACKGROUND: Duke Treadmill score (DTS) is an index that provides prognostic information calculated at exercise stress test (EST). Fractional flow reserve (FFR) is an invasive method used to evaluate intermediate coronary stenosis. The direct relation of DTS and FFR has not been studied to date. AIM: The present study aims to investigate the relationship between the Duke Treadmill score (DTS) and fractional flow reserve (FFR). METHODS: The study population consisted of a total of 106 patients who have single-vessel disease, as confirmed by the coronary angiography (CAG), performed following EST, and whose FFRs have been measured...
June 14, 2017: Kardiologia Polska
https://www.readbyqxmd.com/read/28612427/simulation-based-investigation-of-deleterious-nssnp-s-in-atxn2-gene-and-its-structural-consequence-towards-spinocerebellar-ataxia
#18
Siddharth Sinha, Sharad Verma, Aditi Singh, Pallavi Somvanshi, Abhinav Grover
Spinocerebellar degeneration, termed as ataxia is a neurological disorder of central nervous system, characterized by limb in-coordination and a progressive gait. The patient also demonstrates specific symptoms of muscle weakness, slurring of speech, and decreased vibration senses. Expansion of polyglutamine trinucleotide (CAG) within ATXN2 gene with 35 or more repeats, results in spinocerebellar ataxia type-2. Protein ataxin-2 coded by ATXN2 gene has been reported to have a crucial role in translation of the genetic information through sequestering the histone acetyl transferases (HAT) resulting in a state of hypo-acetylation...
June 14, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28611596/ethidium-bromide-modifies-the-agarose-electrophoretic-mobility-of-cag%C3%A2-ctg-alternative-dna-structures-generated-by-pcr
#19
Mário Gomes-Pereira, Darren G Monckton
The abnormal expansion of unstable simple sequence DNA repeats can cause human disease through a variety of mechanisms, including gene loss-of-function, toxic gain-of-function of the encoded protein and toxicity of the repeat-containing RNA transcript. Disease-associated unstable DNA repeats display unusual biophysical properties, including the ability to adopt non-B-DNA structures. CAG•CTG trinucleotide sequences, in particular, have been most extensively studied and they can fold into slipped-stranded DNA structures, which have been proposed as mutation intermediates in repeat size expansion...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28611571/exosomes-and-homeostatic-synaptic-plasticity-are-linked-to-each-other-and-to-huntington-s-parkinson-s-and-other-neurodegenerative-diseases-by-database-enabled-analyses-of-comprehensively-curated-datasets
#20
James K T Wang, Peter Langfelder, Steve Horvath, Michael J Palazzolo
Huntington's disease (HD) is a progressive and autosomal dominant neurodegeneration caused by CAG expansion in the huntingtin gene (HTT), but the pathophysiological mechanism of mutant HTT (mHTT) remains unclear. To study HD using systems biological methodologies on all published data, we undertook the first comprehensive curation of two key PubMed HD datasets: perturbation genes that impact mHTT-driven endpoints and therefore are putatively linked causally to pathogenic mechanisms, and the protein interactome of HTT that reflects its biology...
2017: Frontiers in Neuroscience
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