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https://www.readbyqxmd.com/read/28527524/c9orf72-hexanucleotide-repeat-expansions-and-ataxin-2-intermediate-length-repeat-expansions-in-indian-patients-with-amyotrophic-lateral-sclerosis
#1
Priyam Narain, James Gomes, Rohit Bhatia, Inder Singh, Perumal Vivekanandan
Repeat expansions in the chromosome 9 open reading frame 72 (C9orf72) gene have been recognized as a major contributor to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia in the Caucasian population. Intermediate length repeat expansions of CAG (polyQ) repeat in the ATXN2 gene have also been reported to increase the risk of developing ALS in North America and Europe. We screened 131 ALS patients and 127 healthy controls from India for C9orf72 and ATXN2 repeat expansions. We found pathogenic hexanucleotide expansions in 3 of the 127 sporadic ALS patients, in 1 of the 4 familial ALS patients, and in none of the healthy controls...
April 26, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28525545/gene-co-expression-network-analysis-for-identifying-modules-and-functionally-enriched-pathways-in-sca2
#2
Lance T Pflieger, Warunee Dansithong, Sharan Paul, Daniel Scoles, Karla P Figueroa, Pratap Meera, Thomas S Otis, Julio C Facelli, Stefan M Pulst
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disease caused by CAG repeat expansion in the ATXN2 gene. The repeat resides in an encoded region of the gene resulting in polyglutamine (polyQ) expansion which has been assumed to result in gain of function, predominantly, for the ATXN2 protein. We evaluated temporal cerebellar expression profiles by RNA sequencing of ATXN2Q127 mice vs wildtype littermates. ATXN2Q127 mice are characterized by a progressive motor phenotype onset, and have progressive cerebellar molecular and neurophysiological (Purkinje cell firing frequency) phenotypes...
May 19, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28525270/two-zeolitic-open-framework-aluminoborates-directed-by-similar-zn-complexes
#3
Qi Wei, Jia-Jia Wang, Jie Zhang, Guo-Yu Yang
Two three-dimensional (3D) zeolitic open-framework aluminoborates (ABOs) [Zn(ma)(en)2][AlB5O10] (1) and [Zn(ma)(en)2][AlB6O11(OH)] (2) (ma = methylamine, en = ethylenediamine) were successfully made under solvothermal conditions, which represent the first examples using similar metal complex (MC) with mixed amines as the structure-directing agents in ABOs. Notice that the central atom in the MC is coordinated by mixed amines is uncommon. However, they exhibit distinctly different structures: 1 crystallizes in a centrosymmetric [Al(B5O10)]n(2n-) zeolitic framework built by pentaborate (B5O10) clusters and AlO4 tetrahedra, exhibiting a 4-connected cag topology, while 2 contains hexaborate (B6O11(OH)) clusters and AlO4 groups, further alternately joined to form a noncentrosymmetric [AlB6O11(OH)]n(2n-) zeolitic framework with 7-/9-, 8-/10-ring helical channels and large 13-ring channels, showing a dia topology...
May 19, 2017: Inorganic Chemistry
https://www.readbyqxmd.com/read/28523552/epigenetics-of-huntington-s-disease
#4
Silvia Bassi, Takshashila Tripathi, Alan Monziani, Francesca Di Leva, Marta Biagioli
Huntington's disease (HD) is a genetic, fatal autosomal dominant neurodegenerative disorder typically occurring in midlife with symptoms ranging from chorea, to dementia, to personality disturbances (Philos Trans R Soc Lond Ser B Biol Sci 354:957-961, 1999). HD is inherited in a dominant fashion, and the underlying mutation in all cases is a CAG trinucleotide repeat expansion within exon 1 of the HD gene (Cell 72:971-983, 1993). The expanded CAG repeat, translated into a lengthened glutamine tract at the amino terminus of the huntingtin protein, affects its structural properties and functional activities...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28523359/arginine-cga-codons-as-a-source-of-nonsense-mutations-a-possible-role-in-multivariant-gene-expression-control-of-mrna-quality-and-aging
#5
Georgy A Romanov, Victor S Sukhoverov
Methylation of cytosine residues in DNA of higher eukaryotes, including humans, creates "hot spots" of C→T transitions in the genome. The predominantly methylated sequence in mammalian DNAs is CG (CpG). Among CG-containing codons, CGA codons for arginine are unique due to their ability to create stop codons TGA (UGA in mRNA) upon epigenetic-mediated mutation. As such nonsense mutations can have a strong adverse effect on the cell and organism, we have performed a study, on the example of human genes, aimed to characterise the anticipated effects of epigenetic-mediated nonsense mutations CGA→TGA in somatic cells...
May 18, 2017: Molecular Genetics and Genomics: MGG
https://www.readbyqxmd.com/read/28522818/efficient-modification-of-%C3%AE-dna-substrates-for-single-molecule-studies
#6
Yoori Kim, Armando de la Torre, Andrew A Leal, Ilya J Finkelstein
Single-molecule studies of protein-nucleic acid interactions frequently require site-specific modification of long DNA substrates. The bacteriophage λ is a convenient source of high quality long (48.5 kb) DNA. However, introducing specific sequences, tertiary structures, and chemical modifications into λ-DNA remains technically challenging. Most current approaches rely on multi-step ligations with low yields and incomplete products. Here, we describe a molecular toolkit for rapid preparation of modified λ-DNA...
May 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28522611/long-terminal-repeats-power-evolution-of-genes-and-gene-expression-programs-in-mammalian-oocytes-and-zygotes
#7
Vedran Franke, Sravya Ganesh, Rosa Karlic, Radek Malik, Josef Pasulka, Filip Horvat, Maja Kuzman, Helena Fulka, Marketa Cernohorska, Jana Urbanova, Eliska Svobodova, Jun Ma, Yutaka Suzuki, Fugaku Aoki, Richard M Schultz, Kristian Vlahovicek, Petr Svoboda
Retrotransposons are 'copy-and-paste' insertional mutagens that substantially contribute to mammalian genome content. Retrotransposons often carry long terminal repeats (LTRs) for retrovirus-like reverse transcription and integration into the genome. We report an extraordinary impact of a group of LTRs from the mammalian endogenous retrovirus-related ERVL retrotransposon class on gene expression in the germline and beyond. In mouse, we identified >800 LTRs from ORR1, MT, MT2, and MLT families, which resemble mobile gene-remodeling platforms that supply promoters and first exons...
May 18, 2017: Genome Research
https://www.readbyqxmd.com/read/28521390/retraction-androgen-receptor-cag-and-ggn-repeat-length-variation-contributes-more-to-the-tumorigenesis-of-osteosarcoma
#8
Yongxiang Shi, Weishan Chen, Qinghuai Li, Zhaoming Ye
No abstract text is available yet for this article.
May 16, 2017: Oncotarget
https://www.readbyqxmd.com/read/28513229/abo-blood-group-is-a-risk-factor-for-coronary-artery-disease-in-patients-with-poor-blood-pressure-control
#9
Bingyang Zhou, Naqiong Wu, Chenggang Zhu, Ying Gao, Yuanlin Guo, Ping Qing, Xiaolin Li, Yao Wang, Qian Dong, Jianjun Li
BACKGROUND: Few studies had examined the role of ABO blood groups on CAD in hypertensive patients with different blood pressure (BP) controls. METHODS: A total of 2708 patients with primary hypertension (HTN) were consecutively enrolled and underwent coronary angiography (CAG) due to angina-like chest pain. The severity of coronary artery stenosis was assessed by Gensini score (GS). Patients were divided into two groups due to results of CAG: HTN with CAD (n = 2185) and HTN without CAD (n = 523)...
May 17, 2017: Clinical and Experimental Hypertension: CHE
https://www.readbyqxmd.com/read/28511915/altered-ionic-currents-and-amelioration-by-igf-1-and-pacap-in-motoneuron-derived-cells-modelling-sbma
#10
Aura M Jiménez Garduño, Leon J Juárez-Hernández, María J Polanco, Laura Tosatto, Daniela Michelatti, Daniele Arosio, Manuela Basso, Maria Pennuto, Carlo Musio
Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's disease, is a motor neuron disease caused by the expansion of a polymorphic CAG tandem repeat encoding a polyglutamine (polyQ) tract in the androgen receptor (AR) gene. SBMA is triggered by the binding of mutant AR to its natural ligands, testosterone and dihydrotestosterone (DHT). To investigate the neuronal alterations of motor neuron cell models of SBMA, we applied patch-clamp methods to verify how polyQ expansions in the AR alter cell ionic currents...
May 10, 2017: Biophysical Chemistry
https://www.readbyqxmd.com/read/28511806/st-segment-elevation-myocardial-infarction-could-be-the-primary-presentation-of-acute-aortic-dissection
#11
Qing-Yi Zhu, Shi Tai, Liang Tang, Wen Peng, Sheng-Hua Zhou, Zhen-Guo Liu, Xin-Qun Hu
BACKGROUND: Stanford type A aortic dissection (TAAD) may lead to coronary artery occlusion and malfunction. However, TAAD manifesting as acute ST-segment elevation myocardial infarction (STEMI) has not been studied. In the present study, we reported 8 TAAD cases with STEMI as the primary presentation, and analyzed their clinical characteristics and outcome. METHODS: The records were reviewed for patients admitted to the large comprehensive university hospital for PCI due to STEMI from January 1, 2002 to January 1, 2017...
May 11, 2017: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28511322/-interaction-between-apob-gene-polymorphism-and-risk-factors-in-coronary-heart-disease-patients-without-lipid-lowering-treatment
#12
T Pu, H Y Yu, M Xu, Y Zhang, H Yan, L J Sun, W X Xu, Y Y Zhang, W Gao
Objective: To investigate the association between APOB gene R532W polymorphism and the risk of coronary heart disease (CHD) in patients without lipid-lowering treatment and to analyze the interactions between the variation of R532W and different risk factors of CHD. Methods: CHD and non-CHD were diagnosed according to coronary artery angiography (CAG) and/or coronary computed tomography angiogram (CTA) results, as well as clinical features. Blood samples from 771 CHD patients and 772 age- and sex-matched non-CHD controls, who never accepted any lipid-lowering treatments, were collected...
May 24, 2017: Zhonghua Xin Xue Guan Bing za Zhi
https://www.readbyqxmd.com/read/28510468/diagnostic-efficacy-of-coronary-artery-three-dimensional-steady-state-free-precession-magnetic-resonance-angiography-in-comparison-with-invasive-coronary-angiography-for-detecting-coronary-artery-disease
#13
Ali Mohammadzadeh, Fariborz Faeghi, Nazanin Sahraee, Hamidreza Pouraliakbar, Reza Kiani, Vahid Mohammadzadeh, Pouya Entezari, Ali Borhani, Madjid Shakiba, Sakineh Kadivar, Maryam Mohammadzadeh
PURPOSE: To assess the diagnostic value of three-dimensional steady-state free precession magnetic resonance angiography (3D-SSFP MRA) for detecting coronary artery disease (CAD). MATERIALS AND METHODS: Patients suspected of CAD based on clinical evaluation, underwent invasive coronary angiography (CAG) and Cardiac MRA (CMRA). Collected data in favor of any CAD findings in CMRA were compared to CAG results as the standard diagnostic method in CAD detection. Analysis was performed on per-patient, per-vessel and per-segment bases...
May 2017: Archives of Iranian Medicine
https://www.readbyqxmd.com/read/28509817/modified-delphi-process-for-the-development-of-choosing-wisely-for-inflammatory-bowel-disease
#14
Geoffrey C Nguyen, Karen Boland, Waqqas Afif, Brian Bressler, Jennifer L Jones, Adam V Weizman, Sharyle Fowler, Smita Halder, Vivian W Huang, Gilaad G Kaplan, Reena Khanna, Sanjay K Murthy, Joannie Ruel, Cynthia H Seow, Laura E Targownik, Tanya Chawla, Luis Guimaraes, Aida Fernandes, Sherif Saleh, Gil Y Melmed
BACKGROUND AND AIMS: The prevalence and incidence of inflammatory bowel disease (IBD) in North America is among the highest in the world and imparts substantial direct and indirect medical costs. The Choosing Wisely Campaign was launched in wide variety of medical specialties and disciplines to reduce unnecessary or harmful tests or treatment interventions. METHODS: The Choosing Wisely list for IBD was developed by the Canadian IBD Network for Research and Growth in Quality Improvement (CINERGI) in collaboration with Crohn's and Colitis Canada (CCC) and the Canadian Association of Gastroenterology (CAG)...
June 2017: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/28509768/modified-delphi-process-for-the-development-of-choosing-wisely-for-inflammatory-bowel-disease
#15
Geoffrey C Nguyen, Karen Boland, Waqqas Afif, Brian Bressler, Jennifer L Jones, Adam V Weizman, Sharyle Fowler, Smita Halder, Vivian W Huang, Gilaad G Kaplan, Reena Khanna, Sanjay K Murthy, Joannie Ruel, Cynthia H Seow, Laura E Targownik, Tanya Chawla, Luis Guimaraes, Aida Fernandes, Sherif Saleh, Gil Y Melmed
BACKGROUND AND AIMS: The prevalence and incidence of inflammatory bowel disease (IBD) in North America is among the highest in the world and imparts substantial direct and indirect medical costs. The Choosing Wisely Campaign was launched in wide variety of medical specialties and disciplines to reduce unnecessary or harmful tests or treatment interventions. METHODS: The Choosing Wisely list for IBD was developed by the Canadian IBD Network for Research and Growth in Quality Improvement (CINERGI) in collaboration with Crohn's and Colitis Canada (CCC) and the Canadian Association of Gastroenterology (CAG)...
May 15, 2017: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/28508421/subversion-of-host-kinases-a-key-network-in-cellular-signaling-hijacked-by-helicobacter-pylori-caga
#16
REVIEW
Nicole Tegtmeyer, Matthias Neddermann, Carmen Isabell Asche, Steffen Backert
Helicobacter pylori is a paradigm of persistent pathogens and major risk factor for developing severe diseases including adenocarcinoma in the human stomach. An important bacterial factor linked to gastric disease progression is the cag pathogenicity island-encoded type-IV secretion system (T4SS) effector protein CagA. Translocated CagA undergoes tyrosine phosphorylation at EPIYA-motifs and then activates or inactivates multiple host signaling proteins in a phosphorylation-dependent and phosphorylation-independent fashion...
May 15, 2017: Molecular Microbiology
https://www.readbyqxmd.com/read/28508289/somatic-mosaicism-with-reversion-to-normality-of-a-mutated-transthyretin-allele-related-to-a-familial-amyloidotic-polyneuropathy
#17
Concetta Federico, Ketty Dugo, Francesca Bruno, Anna Maria Longo, Agata Grillo, Salvatore Saccone
Familial amyloidotic polyneuropathy (FAP) is a progressive neuropathy, with onset in adulthood and high mortality. It is related to an altered transthyretin (TTR) plasma protein, mainly produced by the liver and responsible for amyloid deposit in the peripheral nervous system. SNPs in the TTR gene were associated with FAP, and the G>C substitution (NM_000371.3:c.325G>C) in the 109th codon (GAG vs CAG; NP_362.1:p.E109Q) was previously described in Sicily (Italy). Here, we report on a Sicilian family with several patients affected by FAP related to the E109Q mutation, which displayed a somatic mosaicism with the reversion to normality of the c...
May 15, 2017: Human Genetics
https://www.readbyqxmd.com/read/28504224/denmark-coronary-and-structural-heart-interventions-from-2010-to-2015
#18
Hans-Henrik Tilsted, Ole Ahlehoff, Christian J Terkelsen, Frants Pedersen, Cengiz Özcan, Troels H Jørgensen, Jens E Nielsen-Kudsk, Jan Ravkilde, Henrik Nissen, Sune A Pedersen, Ole Havndrup, Jens F Lassen
Interventional cardiology in Denmark has been carried out since the mid 1980s. Interventional cardiology is only performed at a few high-volume centres. Healthcare coverage is universal and is essentially free of charge. Hospitals are mostly publicly owned and financed by fixed budgets and, in part, an activity-based funding system. Approximately 30,000 coronary angiographies (CAG), 10,000 percutaneous coronary interventions (PCIs) of which approximately 25% are primary PCIs, and 500 transcatheter aortic valve implantations (TAVIs) are carried out each year...
May 15, 2017: EuroIntervention
https://www.readbyqxmd.com/read/28502132/evaluation-of-non-invasive-versus-invasive-methods-for-diagnosis-of-helicobacter-pylori-infection-among-patients-with-gastroduodenal-disorders
#19
Mona A Hassan, Entsar H Ahmed, Bahaa-Eldin A Abdel-Raady, Ibrahim A Amin, Abeer ElRefaiy Refaiy, Gamal M Soliman
H. pylori, a spiral gram-negative bacterium, is associated with gastroduodenal diseases. All H. pylori diagnostic assays have limitations. Cytotoxin-associated gene A (cag A), a virulence marker, can be identified by PCR. We evaluated H. pylori diagnostic methods, invasive: rapid urease test (RUT), and histopathological examination (HE), and serology as non-invasive method. Positive cases were studied for presence of cag A gene. Upper endoscopies and gastric biopsies were performed on 67 dyspeptic patients for RUT, HE and PCR...
June 2016: Egyptian Journal of Immunology
https://www.readbyqxmd.com/read/28501748/systematic-screening-and-characterization-of-prototype-constituents-and-metabolites-of-total-astragalosides-using-hplc-esi-it-tof-ms-n-after-oral-administration-to-rats
#20
Hong-Fu Li, Feng Xu, Ping Yang, Guang-Xue Liu, Ming-Ying Shang, Xuan Wang, Jun Yin, Shao-Qing Cai
Astragalosides (AGs) are the main bioactive constituents in Astragali Radix (AR), and have a wide range of pharmacological properties, including immunoregulatory, cardioprotective, neuroprotective, antioxidative, antidiabetic, and antinociceptive effects. However, the metabolism of total AGs remains unclear. To clarify the metabolic fate of AGs after oral administration to rats, total AGs were isolated from AR extracts using AB-8 macroporous resin chromatography and preparative HPLC, and then analyzed using HPLC-DAD-ELSD and LC-MS...
May 5, 2017: Journal of Pharmaceutical and Biomedical Analysis
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