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https://www.readbyqxmd.com/read/28432641/dentatorubro-pallidoluysian-atrophy-drpla-among-700-families-with-ataxia-in-brazil
#1
Pedro Braga-Neto, José Luiz Pedroso, Gabriel Vasata Furtado, Tailise Conte Gheno, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim, Orlando G P Barsottini
Dentatorubro-pallidoluysian atrophy (DRPLA) is a spinocerebellar ataxia (SCA) very rare in non-Asian populations. To date, DRPLA was undetected in the general Brazilian population. Adult-onset ataxic patients have been recruited from several Brazilian neurology and neurogenetics centers. CAG lengths at SCA1, SCA2, SCA3/MJD, SCA6, SCA7, SCA12, SCA17 and DRPLA associated genes, and ATTCT expansions at SCA10 gene were studied. A single DRPLA case detected is reported. Proband was a 69-year-old Brazilian woman of mixed ancestry, with a late-onset pure ataxia: her alleles at the associated gene, ATN1, presented 14/52 CAG repeats...
April 21, 2017: Cerebellum
https://www.readbyqxmd.com/read/28428116/cycloastragenol-improves-hepatic-steatosis-by-activating-farnesoid-x-receptor-signalling
#2
Ming Gu, Shiying Zhang, Yuanyuan Zhao, Jinwen Huang, Yahui Wang, Yin Li, Shengjie Fan, Li Yang, Guang Ji, Qingchun Tong, Cheng Huang
Non-alcoholic fatty liver disease (NAFLD) has become a global health problem. However, there is no approved therapy for NAFLD. Farnesoid X receptor (FXR) is a potential drug target for treatment of NAFLD. In an attempt to screen FXR agonists, we found that cycloastragenol (CAG), a natural occurring compound in Astragali Radix, stimulated FXR transcription activity. In animal studies, we demonstrated that CAG treatment resulted in obvious reduction of high-fat diet induced lipid accumulation in liver accompanied by lowered blood glucose, serum triglyceride levels and hepatic bile acid pool size...
April 17, 2017: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
https://www.readbyqxmd.com/read/28425480/efficient-cns-targeting-in-adult-mice-by-intrathecal-infusion-of-single-stranded-aav9-gfp-for-gene-therapy-of-neurological-disorders
#3
K Bey, C Ciron, L Dubreil, J Deniaud, M Ledevin, J Cristini, V Blouin, P Aubourg, M-A Colle
Adeno-associated virus (AAV) gene therapy constitutes a powerful tool for the treatment of neurodegenerative diseases. While AAVs are generally administered systemically to newborns in preclinical studies of neurological disorders, in adults the maturity of the blood-brain barrier (BBB) must be considered when selecting the route of administration. Delivery of AAVs into the cerebrospinal fluid (CSF) represents an attractive approach to target the central nervous system (CNS) and bypass the BBB. In this study, we investigated the efficacy of intra-CSF delivery of a single-stranded (ss) AAV9-CAG-GFP vector in adult mice via intracisternal (iCist) or intralumbar (it-Lumb) administration...
April 20, 2017: Gene Therapy
https://www.readbyqxmd.com/read/28418751/influence-of-exergaming-on-the-perception-of-cancer-related-fatigue
#4
Ricardo da Silva Alves, Denise Hollanda Iunes, Isabela Carvalho Pereira, Juliana Bassalobre Carvalho Borges, Denismar Alves Nogueira, Andreia Maria Silva, Daniel Ferreira Moreira Lobato, Leonardo Cesar Carvalho
OBJECTIVE: Exercise is recommended for cancer patients to reduce fatigue and improve quality of life. This study's aim is to evaluate the influence of an exergaming protocol on cancer-related fatigue, muscle fatigue, and muscle strength in cancer patients. MATERIALS AND METHODS: We conducted a quasi-experimental control study using exergaming in all groups through an Xbox360 Kinect™ console, two to three times per week, for 20 sessions. Three groups were created: cancer patients in chemotherapy and/or radiotherapy group (CRG; n:15), cancer patients after chemotherapy and/or radiotherapy (CAG; n:15), and a control group (CG; n:15)...
April 2017: Games for Health
https://www.readbyqxmd.com/read/28415163/fragmented-qrs-and-abnormal-creatine-kinase-mb-are-predictors-of-coronary-artery-disease-in-patients-with-angina-and-normal-electrocardiographys
#5
Jung Joo Lee, Jae Hoon Lee, Jin Woo Jeong, Jun Young Chung
Background/Aims: Patients with symptoms of coronary artery disease (CAD) often display normal tracings or only nonspecific changes on electrocardiography (ECG). The aim of this study was to explore strategic elements of the ECG and other potential factors that are predictive of CAD in this scenario. Methods: This was an observational study of 142 patients with the chief complaint of chest pain, each of whom presented with a normal ECG and was subjected to emergency coronary angiography (CAG)...
April 17, 2017: Korean Journal of Internal Medicine
https://www.readbyqxmd.com/read/28412438/torsional-stress-promotes-trinucleotidic-expansion-in-spermatids
#6
Olivier Simard, Seyedeh Raheleh Niavarani, Virginie Gaudreault, Guylain Boissonneault
Trinucleotide repeats are involved in various neurodegenerative diseases and are highly unstable both in dividing or non-dividing cells. In Huntington disease (HD), the age of onset of symptoms is inversely correlated to the number of CAG repeats within exon 1 of the HTT gene. HD shows paternal anticipation as CAG repeats are increased during spermatogenesis. CAG expansion were indeed found to be generated during the chromatin remodeling in spermatids where most histones are evicted and replaced by protamines...
April 9, 2017: Mutation Research
https://www.readbyqxmd.com/read/28406273/-we-are-part-of-a-family-benefits-and-limitations-of-community-art-groups-cags-in-thyolo-malawi-a-qualitative-study
#7
Umberto Pellecchia, Saar Baert, Spencer Nundwe, Andy Bwanali, Bote Zamadenga, Carol A Metcalf, Helen Bygrave, Sarah Daho, Liesbet Ohler, Brown Chibwandira, Kennedy Kanyimbo
INTRODUCTION: In 2012 Community ART Groups (CAGs), a community-based model of antiretroviral therapy (ART) delivery were piloted in Thyolo District, Malawi as a way to overcome patient barriers to accessing treatment, and to decrease healthcare workers' workload. CAGs are self-formed groups of patients on ART taking turns to collect ART refills for all group members from the health facility. We conducted a qualitative study to assess the benefits and challenges of CAGs from patients' and healthcare workers' (HCWs) perspectives...
March 28, 2017: Journal of the International AIDS Society
https://www.readbyqxmd.com/read/28405320/distinct-metaplastic-and-inflammatory-phenotypes-in-autoimmune-and-adenocarcinoma-associated-chronic-atrophic-gastritis
#8
Sangho Jeong, Eunyoung Choi, Christine P Petersen, Joseph T Roland, Alessandro Federico, Rossana Ippolito, Francesco P D'Armiento, Gerardo Nardone, Osamu Nagano, Hideyuki Saya, Marco Romano, James R Goldenring
BACKGROUND: Autoimmune gastritis (AIG) and adenocarcinoma-associated chronic atrophic gastritis (CAG) are both associated with oxyntic atrophy, but AIG patients demonstrate an increased risk of carcinoid tumors rather than the elevated risk of adenocarcinoma observed with CAG. We therefore sought to compare the characteristics of the metaplastic mucosa in AIG and CAG patients. METHODS: We examined markers for metaplasia (spasmolytic polypeptide expressing metaplasia (SPEM) and intestinal metaplasia) as well as proliferation (Ki67) and immune cell populations (neutrophils, macrophages, and eosinophils) in gastric sections from 16 female patients with autoimmune thyroiditis and AIG and 17 patients with CAG associated with gastric adenocarcinoma...
February 2017: United European Gastroenterology Journal
https://www.readbyqxmd.com/read/28404480/2d-and-3d-fish-of-expanded-repeat-rnas-in-human-lymphoblasts
#9
Martyna O Urbanek, Michał Michalak, Wlodzimierz J Krzyzosiak
The first methods for visualizing RNAs within cells were designed for simple imaging of specific transcripts in cells or tissues and since then significant technical advances have been made in this field. Today, high-resolution images can be obtained, enabling visualization of single transcript molecules, quantitative analyses of images, and precise localization of RNAs within cells as well as co-localization of transcripts with specific proteins or other molecules. In addition, tracking of RNA dynamics within single cell has become possible...
April 9, 2017: Methods: a Companion to Methods in Enzymology
https://www.readbyqxmd.com/read/28401494/a-comparative-optical-coherence-tomography-study-of-spinocerebellar-ataxia-types-3-and-10
#10
Fernando Spina Tensini, Mario T Sato, Naoye Shiokawa, Tetsuo Ashizawa, Hélio A G Teive
SCA3 presents with a CAG expansion at 14q24.3-q32 while SCA10 shows an ATTCT expansion at 22q13-qter. SCA10 seems to be less aggressive than SCA3. For an in vivo, noninvasive approach of the correlation between central nervous system and clinical evolution, we can use optic coherence tomography (OCT) to measure retinal nerve fiber (RNFL) and ganglion cell layer (GCL) thickness. To describe OCT findings in SCA10, correlate it with expansion size and disease severity and compare with those of SCA3. We analyzed ten individuals with SCA3 and nine with SCA10 recruited from the neurology service of Hospital de Clínicas of Paraná-Brazil...
April 11, 2017: Cerebellum
https://www.readbyqxmd.com/read/28400719/reduction-of-huntington-s-disease-rna-foci-by-cag-repeat-targeting-reagents
#11
Martyna O Urbanek, Agnieszka Fiszer, Wlodzimierz J Krzyzosiak
In several human polyglutamine diseases caused by expansions of CAG repeats in the coding sequence of single genes, mutant transcripts are detained in nuclear RNA foci. In polyglutamine disorders, unlike other repeat-associated diseases, both RNA and proteins exert pathogenic effects; therefore, decreases of both RNA and protein toxicity need to be addressed in proposed treatments. A variety of oligonucleotide-based therapeutic approaches have been developed for polyglutamine diseases, but concomitant assays for RNA foci reduction are lacking...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28397100/the-burden-and-epidemiology-of-community-acquired-central-nervous-system-infections-a-multinational-study
#12
H Erdem, A Inan, E Guven, S Hargreaves, L Larsen, G Shehata, E Pernicova, E Khan, L Bastakova, S Namani, A Harxhi, T Roganovic, B Lakatos, S Uysal, O R Sipahi, A Crisan, E Miftode, R Stebel, B Jegorovic, Z Fehér, C Jekkel, N Pandak, A Moravveji, H Yilmaz, A Khalifa, U Musabak, S Yilmaz, A Jouhar, N Oztoprak, X Argemi, M Baldeyrou, G Bellaud, R V Moroti, R Hasbun, L Salazar, R Tekin, A Canestri, L Čalkić, L Praticò, F Yilmaz-Karadag, L Santos, A Pinto, F Kaptan, P Bossi, J Aron, A Duissenova, G Shopayeva, B Utaganov, S Grgic, G Ersoz, A K L Wu, K C Lung, A Bruzsa, L B Radic, H Kahraman, M Momen-Heravi, S Kulzhanova, F Rigo, M Konkayeva, Z Smagulova, T Tang, P Chan, S Ahmetagic, H Porobic-Jahic, F Moradi, S Kaya, Y Cag, A Bohr, C Artuk, I Celik, M Amsilli, H C Gul, A Cascio, M Lanzafame, M Nassar
Risk assessment of central nervous system (CNS) infection patients is of key importance in predicting likely pathogens. However, data are lacking on the epidemiology globally. We performed a multicenter study to understand the burden of community-acquired CNS (CA-CNS) infections between 2012 and 2014. A total of 2583 patients with CA-CNS infections were included from 37 referral centers in 20 countries. Of these, 477 (18.5%) patients survived with sequelae and 227 (8.8%) died, and 1879 (72.7%) patients were discharged with complete cure...
April 10, 2017: European Journal of Clinical Microbiology & Infectious Diseases
https://www.readbyqxmd.com/read/28396959/glucose-transportation-in-the-brain-and-its-impairment-in-huntington-disease-one-more-shade-of-the-energetic-metabolism-failure
#13
REVIEW
Veronica Morea, Eris Bidollari, Gianni Colotti, Annarita Fiorillo, Jessica Rosati, Lidia De Filippis, Ferdinando Squitieri, Andrea Ilari
Huntington's disease (HD) or Huntington's chorea is the most common inherited, dominantly transmitted, neurodegenerative disorder. It is caused by increased CAG repeats number in the gene coding for huntingtin (Htt) and characterized by motor, behaviour and psychiatric symptoms, ultimately leading to death. HD patients also exhibit alterations in glucose and energetic metabolism, which result in pronounced weight loss despite sustained calorie intake. Glucose metabolism decreases in the striatum of all the subjects with mutated Htt, but affects symptom presentation only when it drops below a specific threshold...
April 10, 2017: Amino Acids
https://www.readbyqxmd.com/read/28396681/evolution-of-nucleotide-punctuation-marks-from-structural-to-linear-signals
#14
Nawal El Houmami, Hervé Seligmann
We present an evolutionary hypothesis assuming that signals marking nucleotide synthesis (DNA replication and RNA transcription) evolved from multi- to unidimensional structures, and were carried over from transcription to translation. This evolutionary scenario presumes that signals combining secondary and primary nucleotide structures are evolutionary transitions. Mitochondrial replication initiation fits this scenario. Some observations reported in the literature corroborate that several signals for nucleotide synthesis function in translation, and vice versa...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/28395798/generation-of-induced-pluripotent-stem-cells-from-a-patient-with-spinocerebellar-ataxia-type-3
#15
Bing-Wen Soong, Shih-Han Syu, Cheng-Hao Wen, Hui-Wen Ko, Mei-Ling Wu, Patrick C H Hsieh, Shiaw-Min Hwang, Huai-En Lu
Spinocerebellar ataxia type 3 (SCA3) is a dominantly inherited neurodegenerative disease caused by a trinucleotide repeat (CAG) expansion in the coding region of ATXN3 gene resulting in production of ataxin-3 with an elongated polyglutamine tract. Here, we generated induced pluripotent stem cells (iPSCs) from the peripheral blood mononuclear cells of a male patient with SCA3 by using the Sendai-virus delivery system. The resulting iPSCs had a normal karyotype, retained the disease-causing ATXN3 mutation, expressed pluripotent markers and could differentiate into the three germ layers...
January 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28395737/generation-of-sibling-matched-induced-pluripotent-stem-cell-lines-from-spinal-and-bulbar-muscular-atrophy-patients
#16
Gunaseelan Narayanan, Marianne Sheila, Josiah Chai, Lawrence W Stanton
Spinal and bulbar muscular atrophy (SBMA) is a neurodegenerative disease caused by the expansion of CAG repeats in the Androgen Receptor gene (AR). We report the generation of induced pluripotent stem cell (iPSC) lines from two SBMA patients and their healthy siblings. The SBMA and healthy iPSC lines retain the number of AR CAG repeats, express pluripotency markers and are able to differentiate into the three germ layers. The iPSC lines are also free of Sendai virus transgenes and have normal karyotypes. The SBMA iPSC lines with their sibling-matched controls would serve as useful tools to study SBMA disease mechanism...
April 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28390602/reliability-and-validity-of-the-turkish-children-s-voice-handicap-index-10-tr-cvhi-10
#17
Elçin Tadihan Özkan, Arzu Tüzüner, Müzeyyen Çiyiltepe, Eren Balo, Müge Özçelik Korkmaz, Ali Çağli
No abstract text is available yet for this article.
May 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28387881/review-article-intermediate-alleles-of-huntington-s-disease-htt-gene-in-different-populations-worldwide-a-systematic-review
#18
T A Apolinário, C L A Paiva, L A Agostinho
Huntington's disease (HD) is an autosomal dominant progressive neurodegenerative disorder caused by a dynamic mutation due to the expansion of CAG repeats in the HTT gene (4p16.3). The considered normal alleles have less than 27 CAG repeats. Intermediate alleles (IAs) show 27 to 35 CAG repeats and expanded alleles have more than 35 repeats. The IAs apparently have shown a normal phenotype. However, there are some reported associations between individuals that bear an IA and clinical HD signs, such as behavioral disturbs...
April 5, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28386793/spinal-cord-damage-in-spinocerebellar-ataxia-type-1
#19
Carlos Roberto Martins, Alberto Rolim Muro Martinez, Thiago Junqueira Ribeiro de Rezende, Lucas Melo Teixeira Branco, José Luiz Pedroso, Orlando G P Barsottini, Iscia Lopes-Cendes, Marcondes C França
Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant disorder caused by a CAG repeat expansion, characterized by progressive cerebellar ataxia and pyramidal signs. Non-motor and extracerebellar symptoms may occur. MRI-based studies in SCA1 focused in the cerebellum and connections, but there are no data about cord damage in the disease and its clinical relevance. To evaluate in vivo spinal cord damage in SCA1, a group of 31 patients with SCA1 and 31 age- and gender-matched healthy controls underwent MRI on a 3T scanner...
April 6, 2017: Cerebellum
https://www.readbyqxmd.com/read/28385533/molecular-analysis-of-sequence-and-splice-variants-of-the-human-slc13a4-sulfate-transporter
#20
Zhe Zhang, Zin Thu Aung, David G Simmons, Paul A Dawson
The solute linked carrier 13A4 gene (SLC13A4) is abundantly expressed in the human and mouse placenta where it is proposed to transport nutrient sulfate to the fetus. In mice, targeted disruption of placental Slc13a4 leads to severe and lethal fetal phenotypes, however the involvement of SLC13A4 in human development is unknown. A search of the NCBI and Ensembl gene databases identified two alternatively spliced SLC13A4 mRNA transcripts and 98 SLC13A4 gene variants, including 85 missense, 4 splice site, 5 frameshift and 2 nonsense variants, as well as 2 in-frame deletions...
April 1, 2017: Molecular Genetics and Metabolism
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