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https://www.readbyqxmd.com/read/29330189/targeted-synthesis-and-characterization-of-a-gene-cluster-encoding-nad-p-h-dependent-3%C3%AE-3%C3%AE-and-12%C3%AE-hydroxysteroid-dehydrogenases-from-eggerthella-cag-298-a-gut-metagenomic-sequence
#1
Sean M Mythen, Saravanan Devendran, Celia Méndez-García, Isaac Cann, Jason M Ridlon
Gut metagenomic sequences provide a rich source of microbial genes, the majority of which are annotated by homology or unknown. Genes and gene pathways that encode enzymes catalyzing biotransformation of host bile acids are important to identify in gut metagenomic sequences due to the importance of bile acids on gut microbiome structure and host physiology. Hydroxysteroid dehydrogenases (HSDH) are pyridine nucleotide-dependent enzymes with stereo-specificity and regio-specificity for bile acid and steroid hydroxyl groups...
January 12, 2018: Applied and Environmental Microbiology
https://www.readbyqxmd.com/read/29328442/identification-of-differentially-expressed-genes-and-regulatory-relationships-in-huntington-s-disease-by-bioinformatics-analysis
#2
Xiaoyu Dong, Shuyan Cong
Huntington's disease (HD) is an inherited, progressive neurodegenerative disease caused by a CAG expansion in the huntingtin (HTT) gene; various dysfunctions of biological processes in HD have been proposed. However, at present the exact pathogenesis of HD is not fully understood. The present study aimed to explore the pathogenesis of HD using a computational bioinformatics analysis of gene expression. GSE11358 was downloaded from the Gene Expression Omnibus andthe differentially expressed genes (DEGs) in the mutant HTT knock‑in cell model STHdhQ111/Q111 were predicted...
January 9, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29327918/zeptomole-detection-scheme-based-on-levitation-coordinate-measurements-of-a-single-microparticle-in-a-coupled-acoustic-gravitational-field
#3
Akihisa Miayagawa, Makoto Harada, Tetsuo Okada
We present a novel analytical principle in which an analyte (according to its concentration) induces a change in the density of a microparticle, which is measured as a vertical coordinate in a coupled acoustic-gravitational (CAG) field. The density change is caused by the binding of gold nanoparticles (AuNPs) on a polystyrene (PS) microparticle through avidin-biotin association. The density of a 10-m PS particle increases by 2 % when 500 100-nm AuNPs are bound to the PS. The CAG can detect this density change as a 5-10-m shift of the levitation coordinate of the PS...
January 12, 2018: Analytical Chemistry
https://www.readbyqxmd.com/read/29327083/r-loops-targets-for-nuclease-cleavage-and-repeat-instability
#4
REVIEW
Catherine H Freudenreich
R-loops form when transcribed RNA remains bound to its DNA template to form a stable RNA:DNA hybrid. Stable R-loops form when the RNA is purine-rich, and are further stabilized by DNA secondary structures on the non-template strand. Interestingly, many expandable and disease-causing repeat sequences form stable R-loops, and R-loops can contribute to repeat instability. Repeat expansions are responsible for multiple neurodegenerative diseases, including Huntington's disease, myotonic dystrophy, and several types of ataxias...
January 11, 2018: Current Genetics
https://www.readbyqxmd.com/read/29326874/only-some-patients-with-bulbar-and-spinal-muscular-atrophy-may-develop-cardiac-disease
#5
Josef Finsterer, Claudia Stöllberger
Objectives: According to recent publications, some patients with spinal and bulbar muscular atrophy (BSMA) develop cardiac disease, manifesting as ST-segment abnormalities, Brugada-syndrome, dilative cardiomyopathy, or sudden cardiac death. Here we present neurological and cardiac data of a BSMA patient who was followed up for 10 y. Case report: In a male patient aged 47 y, BSMA was diagnosed at age 37 y upon the typical clinical presentation (postural tremor since age 12 y, dysarthria since age 15 y, muscle cramps since age 29 y, general myalgias since age 32 y, general fasciculations since age 34 y, myoclonic jerks, easy fatigability, dyspnea upon exercise since age 36 y) and a CAG-repeat expansion of 47 ± 1 repeats in the androgen-receptor gene detected at age 37 y...
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29326033/the-contribution-of-gender-differences-in-motor-behavioral-and-cognitive-features-to-functional-capacity-independence-and-quality-of-life-in-patients-with-huntington-s-disease
#6
Daniel Zielonka, Michał Ren, Giuseppe De Michele, Raymund A C Roos, Ferdinando Squitieri, Anna Rita Bentivoglio, Jerzy T Marcinkowski, G Bernhard Landwehrmeyer
INTRODUCTION: Huntington's disease (HD) is a neurodegenerative autosomal dominant disorder affecting patients' motor, behavioral and cognitive domains leading to total dependency for activities of daily life. This study compares whether gender differences in motor, cognitive and behavioral symptoms affect function and how functional impairment affects quality of life (QoL). METHODS: We recruited 2191 subjects from the REGISTRY data base that provides personal data, HD age of onset, visit date, CAG mutation size, UHDRS and TFC scores from at least one visit...
January 5, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29325610/autosomal-dominant-cerebellar-ataxias
#7
Andrew Mundwiler, Vikram G Shakkottai
Spinocerebellar ataxias (SCAs) are a genetically diverse group of dominantly inherited disorders that share clinical features that result from dysfunction and degeneration of the cerebellum and its associated pathways. Although nearly 40 genes are currently recognized to result in SCA, shared mechanisms for disease pathogenesis exist among subsets of the SCAs. The most common SCAs result from a glutamine-encoding CAG repeat in the respective disease genes. This chapter discusses the varied genetic etiology of SCA and attempts to categorize these disorders based on shared mechanisms of disease...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29325609/the-cag-polyglutamine-repeat-diseases-a-clinical-molecular-genetic-and-pathophysiologic-nosology
#8
Colleen A Stoyas, Albert R La Spada
Throughout the genome, unstable tandem nucleotide repeats can expand to cause a variety of neurologic disorders. Expansion of a CAG triplet repeat within a coding exon gives rise to an elongated polyglutamine (polyQ) tract in the resultant protein product, and accounts for a unique category of neurodegenerative disorders, known as the CAG-polyglutamine repeat diseases. The nine members of the CAG-polyglutamine disease family include spinal and bulbar muscular atrophy (SBMA), Huntington disease, dentatorubral pallidoluysian atrophy, and six spinocerebellar ataxias (SCA 1, 2, 3, 6, 7, and 17)...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29324782/mafb-is-dispensable-for-the-fetal-testis-morphogenesis-and-the-maintenance-of-spermatogenesis-in-adult-mice
#9
Hossam H Shawki, Hisashi Oishi, Toshiaki Usui, Yu Kitadate, Walaa A Basha, Ahmed M Abdellatif, Kazunori Hasegawa, Risa Okada, Keiji Mochida, Hany A El-Shemy, Masafumi Muratani, Atsuo Ogura, Shosei Yoshida, Satoru Takahashi
The transcription factor MAFB is an important regulator of the development and differentiation of various organs and tissues. Previous studies have shown that MAFB is expressed in embryonic and adult mouse testes and is expected to act as the downstream target of retinoic acid (RA) to initiate spermatogenesis. However, its exact localization and function remain unclear. Here, we localized MAFB expression in embryonic and adult testes and analyzed its gene function using Mafb-deficient mice. We found that MAFB and c-MAF are the only large MAF transcription factors expressed in testes, while MAFA and NRL are not...
2018: PloS One
https://www.readbyqxmd.com/read/29324753/microrna-signatures-of-endogenous-huntingtin-cag-repeat-expansion-in-mice
#10
Peter Langfelder, Fuying Gao, Nan Wang, David Howland, Seung Kwak, Thomas F Vogt, Jeffrey S Aaronson, Jim Rosinski, Giovanni Coppola, Steve Horvath, X William Yang
In Huntington's disease (HD) patients and in model organisms, messenger RNA transcriptome has been extensively studied; in contrast, comparatively little is known about expression and potential role of microRNAs. Using RNA-sequencing, we have quantified microRNA expression in four brain regions and liver, at three different ages, from an allelic series of HD model mice with increasing CAG length in the endogenous Huntingtin gene. Our analyses reveal CAG length-dependent microRNA expression changes in brain, with 159 microRNAs selectively altered in striatum, 102 in cerebellum, 51 in hippocampus, and 45 in cortex...
2018: PloS One
https://www.readbyqxmd.com/read/29311338/faulty-neuronal-determination-and-cell-polarization-are-reverted-by-modulating-hd-early-phenotypes
#11
P Conforti, D Besusso, V D Bocchi, A Faedo, E Cesana, G Rossetti, V Ranzani, C N Svendsen, L M Thompson, M Toselli, G Biella, M Pagani, E Cattaneo
Increasing evidence suggests that early neurodevelopmental defects in Huntington's disease (HD) patients could contribute to the later adult neurodegenerative phenotype. Here, by using HD-derived induced pluripotent stem cell lines, we report that early telencephalic induction and late neural identity are affected in cortical and striatal populations. We show that a large CAG expansion causes complete failure of the neuro-ectodermal acquisition, while cells carrying shorter CAGs repeats show gross abnormalities in neural rosette formation as well as disrupted cytoarchitecture in cortical organoids...
January 8, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29306253/molecular-analysis-and-prevalence-of-huntington-disease-in-northwestern-iran
#12
Mahmoud Shekari Khaniani, Parisa Aob, Mohammadreza Ranjouri, Sima Mansoori Derakhsan
Background/aim: Huntington disease (HD) is a progressive adult-onset neurodegenerative disorder presenting an autosomal dominant inheritance. Since there is no information on the prevalence of HD in northwestern Iran, the aim of the present study was to determine the prevalence of HD and the number of CAG trinucleotide repeats in the population of northwestern Iran.Materials and methods: Genomic DNA was extracted from whole blood by the salting-out method. DNA samples were analyzed to determine the number of CAG trinucleotide repeats of the HD gene...
December 19, 2017: Turkish Journal of Medical Sciences
https://www.readbyqxmd.com/read/29305386/the-chromatin-remodeler-isw1-prevents-cag-repeat-expansions-during-transcription-in-saccharomyces-cerevisiae
#13
Melissa R Koch, Nealia C M House, Casey M Cosetta, Robyn M Jong, Christelle G Salomon, Cailin E Joyce, Elliot A Philips, Xiaofeng A Su, Catherine H Freudenreich
CAG/CTG trinucleotide repeats are unstable sequences that are difficult to replicate, repair, and transcribe due to their structure-forming nature. CAG repeats strongly position nucleosomes, however little is known about the chromatin remodeling needed to prevent repeat instability. In a Saccharomyces cerevisiae model system with CAG repeats carried on a yeast artificial chromosome, we discovered that the chromatin remodeler Isw1 is required to prevent CAG repeat expansions during transcription. CAG repeat expansions in the absence of Isw1 were dependent on both transcription-coupled repair (TCR) and base excision repair (BER)...
January 5, 2018: Genetics
https://www.readbyqxmd.com/read/29303142/type-a-intramural-hematoma-in-a-patient-with-acute-coronary-syndrome-mimicking-acute-type-a-aortic-dissection
#14
Ö Gülmez, B Saritas, I Isiklar
Intramural hematoma (IMH) of ascending aorta is a rare but potentially lethal form of acute aortic syndrome (AAS). It is characterized by a hematoma within the media layer of the aorta secondary to rupture of the vasa vasorum in the absence of an intimal tear. However, the theory of "micro-tear" which cannot be easily detected has been raised. It may stabilize, regress, or progress to rupture or dissection. Similar to Type A aortic dissection (AD), patients with IMH of ascending aorta, as well as patients with persistent pain, are treated urgent surgery...
November 2017: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/29299905/positive-correlation-between-androgen-receptor-cag-repeat-length-and-metabolic-syndrome-in-a-korean-male-population
#15
Jong Wook Kim, Young Dae Bae, Sun Tae Ahn, Jin Wook Kim, Je Jong Kim, Du Geon Moon
PURPOSE: In epidemiological studies, there are various associations of androgen receptor (AR) CAG with several diseases or phenotypes. However, the relationship between CAG repeat length and metabolic syndrome (MS) remains unclear, especially in Asian populations. This study was designed to evaluate the relationship between AR CAG repeat length polymorphism and MS in a Korean male population. MATERIALS AND METHODS: We explored the relationship between AR CAG repeat length polymorphism and MS in a Korean male population (n=337) from 2013 to 2014...
January 2018: World Journal of Men's Health
https://www.readbyqxmd.com/read/29295891/a-peptidylic-inhibitor-for-neutralizing-expanded-cag-rna-induced-nucleolar-stress-in-polyglutamine-diseases
#16
Qian Zhang, Zhefan Stephen Chen, Ying An, Haizhen Liu, Yonghui Hou, Wen Li, Kwok-Fai Lau, Alex Koon, Jacky Ngo, Edwin Chan
Polyglutamine (polyQ) diseases are a set of progressive neurodegenerative disorders ascribed by the expression of both expanded CAG RNA and misfolded polyQ protein. We previously reported that the direct interaction between expanded CAG RNA and nucleolar protein nucleolin (NCL) leads to impediment of pre-ribosomal RNA (pre-rRNA) transcription, and eventually triggers nucleolar stress-induced apoptosis in polyQ diseases. Here, we report a 21-amino acid peptide, named beta-structured inhibitor for neurodegenerative disease (BIND), effectively suppresses expanded CAG RNA toxicity...
January 2, 2018: RNA
https://www.readbyqxmd.com/read/29287074/coronary-angiography-is-related-to-improved-clinical-outcome-of-out-of-hospital-cardiac-arrest-with-initial-non-shockable-rhythm
#17
Eunsil Ko, Ji Kyoung Shin, Won Chul Cha, Joo Hyun Park, Tae Rim Lee, Hee Yoon, Guntak Lee, Sung Yeon Hwang, Tae Gun Shin, Min Seob Sim, Ik Joon Jo, Joong Eui Rhee, Keun Jeong Song, Yeon Kwon Jeong, Sang Do Shin, Jin-Ho Choi
OBJECTIVE: Coronary angiography (CAG) for survivors of out-of-hospital cardiac arrest (OHCA) enables early identification of coronary artery disease and revascularization, which might improve clinical outcome. However, little is known for the role of CAG in patients with initial non-shockable cardiac rhythm. METHODS: We investigated clinical outcomes of successfully resuscitated 670 adult OHCA patients who were transferred to 27 hospitals in Cardiac Arrest Pursuit Trial with Unique Registration and Epidemiologic Surveillance (CAPTURES), a Korean nationwide multicenter registry...
2017: PloS One
https://www.readbyqxmd.com/read/29284413/lower-diastolic-wall-strain-is-associated-with-coronary-revascularization-in-patients-with-stable-angina
#18
Jaehuk Choi, Min-Kyung Kang, Chaehoon Han, Sang Muk Hwang, Sung Gu Jung, Han-Kyul Kim, Kwang Jin Chun, Seonghoon Choi, Jung Rae Cho, Namho Lee
BACKGROUND: Left ventricular (LV) diastolic dysfunction occurs earlier in the ischemic cascade than LV systolic dysfunction and electrocardiographic changes. Diastolic wall strain (DWS) has been proposed as a marker of LV diastolic stiffness. Therefore, the objectives of this study were to define the relationship between DWS and coronary revascularization and to evaluate other echocardiographic parameters in patients with stable angina who were undergoing coronary angiography (CAG). METHODS: Four hundred forty patients [mean age: 61 ± 10; 249 (57%) men] undergoing CAG and with normal left ventricular systolic function without regional wall motion abnormalities were enrolled...
December 28, 2017: BMC Cardiovascular Disorders
https://www.readbyqxmd.com/read/29282329/micrornas-in-csf-as-prodromal-biomarkers-for-huntington-disease-in-the-predict-hd-study
#19
Eric R Reed, Jeanne C Latourelle, Jeremy H Bockholt, Joli Bregu, Justin Smock, Jane S Paulsen, Richard H Myers
OBJECTIVE: To investigate the feasibility of microRNA (miRNA) levels in CSF as biomarkers for prodromal Huntington disease (HD). METHODS: miRNA levels were measured in CSF from 60 PREDICT-HD study participants using the HTG protocol. Using a CAG-Age Product score, 30 prodromal HD participants were selected based on estimated probability of imminent clinical diagnosis of HD (i.e., low, medium, high; n = 10/group). For comparison, participants already diagnosed (n = 15) and healthy controls (n = 15) were also selected...
December 27, 2017: Neurology
https://www.readbyqxmd.com/read/29275998/does-early-coronary-angiography-improve-survival-after-out-of-hospital-cardiac-arrest-a-systematic-review-with-meta-analysis
#20
REVIEW
Michelle Welsford, Matthias Bossard, Colleen Shortt, Jodie Pritchard, Madhu K Natarajan, Emilie P Belley-Côté
BACKGROUND: In patients with out-of-hospital cardiac arrest who achieve return of spontaneous circulation, coronary angiography (CAG) might improve outcomes. We conducted a systematic review and meta-analysis to elucidate the benefit and optimal timing of early CAG in comatose out-of-hospital cardiac arrest patients with return of spontaneous circulation. METHODS: We searched MEDLINE, EMBASE, and Cochrane from 1990 to May 2017. Studies reporting survival and/or neurological survival in early (< 24-hour) vs late/no CAG were selected...
September 18, 2017: Canadian Journal of Cardiology
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