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https://www.readbyqxmd.com/read/29330469/mycobacterium-tuberculosis-exploits-a-molecular-off-switch-of-the-immune-system-for-intracellular-survival
#1
Ulrich von Both, Maurice Berk, Paul-Michael Agapow, Joseph D Wright, Anna Git, Melissa Shea Hamilton, Greg Goldgof, Nazneen Siddiqui, Evangelos Bellos, Victoria J Wright, Lachlan J Coin, Sandra M Newton, Michael Levin
Mycobacterium tuberculosis (M. tuberculosis) survives and multiplies inside human macrophages by subversion of immune mechanisms. Although these immune evasion strategies are well characterised functionally, the underlying molecular mechanisms are poorly understood. Here we show that during infection of human whole blood with M. tuberculosis, host gene transcriptional suppression, rather than activation, is the predominant response. Spatial, temporal and functional characterisation of repressed genes revealed their involvement in pathogen sensing and phagocytosis, degradation within the phagolysosome and antigen processing and presentation...
January 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29323137/issues-with-the-specificity-of-immunological-reagents-for-nlrp3-implications-for-age-related-macular-degeneration
#2
Cassandra Kosmidou, Nikolaos E Efstathiou, Mien V Hoang, Shoji Notomi, Eleni K Konstantinou, Masayuki Hirano, Kosuke Takahashi, Daniel E Maidana, Pavlina Tsoka, Lucy Young, Evangelos S Gragoudas, Timothy W Olsen, Yuki Morizane, Joan W Miller, Demetrios G Vavvas
Contradictory data have been presented regarding the implication of the NACHT, LRR and PYD domains-containing protein 3 (NLRP3) inflammasome in age-related macular degeneration (AMD), the leading cause of vision loss in the Western world. Recognizing that antibody specificity may explain this discrepancy and in line with recent National Institutes of Health (NIH) guidelines requiring authentication of key biological resources, the specificity of anti-NLRP3 antibodies was assessed to elucidate whether non-immune RPE cells express NLRP3...
January 11, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29301644/sex-specific-outcomes-of-transcatheter%C3%A2-aortic-valve-replacement-with-the-sapien-3-valve-insights-from-the-partner-ii-s3-high-risk-and-intermediate-risk-cohorts
#3
Molly Szerlip, Sarah Gualano, Elizabeth Holper, John J Squiers, Jonathon M White, Darshan Doshi, Mathew R Williams, Rebecca T Hahn, John G Webb, Lars G Svensson, Ajay J Kirtane, David J Cohen, Pamela S Douglas, Maria C Alu, Aaron Crowley, E Murat Tuzcu, Raj R Makkar, Howard C Herrmann, Vasilis Babaliaros, Vinod H Thourani, Martin B Leon, Susheel K Kodali, Michael J Mack
OBJECTIVES: The purpose of this study was to identify sex-specific outcomes of intermediate risk patients undergoing transcatheter aortic valve replacement with the SAPIEN 3 valve. BACKGROUND: A survival difference has been observed in women as compared with men in inoperable and high-risk patients receiving early-generation balloon-expandable valves for transcatheter aortic valve replacement (TAVR). Whether a sex-specific outcome difference persists with newer-generation valves and in lower-risk patients is unknown...
January 8, 2018: JACC. Cardiovascular Interventions
https://www.readbyqxmd.com/read/29288557/alu-element-insertion-in-pklr-gene-as-a-novel-cause-of-pyruvate-kinase-deficiency-in-middle-eastern-patients
#4
Harry Lesmana, Lisa Dyer, Xia Li, James Denton, Jenna Griffiths, Satheesh Chonat, Katie G Seu, Matthew M Heeney, Kejian Zhang, Robert J Hopkin, Theodosia A Kalfa
Pyruvate kinase deficiency (PKD) is the most frequent red blood cell enzyme abnormality of the glycolytic pathway and the most common cause of hereditary nonspherocytic hemolytic anemia. Over 250 PKLR-gene mutations have been described, including missense/nonsense, splicing and regulatory mutations, small insertions, small and gross deletions, causing PKD and hemolytic anemia of variable severity. Alu retrotransposons are the most abundant mobile DNA sequences in the human genome, contributing to almost 11% of its mass...
December 30, 2017: Human Mutation
https://www.readbyqxmd.com/read/29287712/the-role-of-dna-methylation-in-coronary-artery-disease
#5
REVIEW
Lian Duan, Junyuan Hu, Xingjiang Xiong, Yongmei Liu, Jie Wang
Epigenetic studies have identified DNA methylation in coronary artery disease (CAD). How the critical genes interact at the cellular level to cause CAD is still unknown. The discovery of DNA methylation inspired researchers to explore relationships in genomic coding and disease phenotype. In the past two decades, there have been many findings regarding the relationship between DNA methylation and CAD development, and the DNA methylation of critical genes have been found to be significantly changed during CAD, including DNA methylation at homocysteine, Alu and long Interspersed Element 1 (LINE-1) repetitive elements...
December 26, 2017: Gene
https://www.readbyqxmd.com/read/29283313/circular-rnas-are-abundantly-expressed-and-upregulated-during-human-epidermal-stem-cell-differentiation
#6
Lasse Sommer Kristensen, Trine Line Hauge Okholm, Morten Trillingsgaard Venø, Jørgen Kjems
The expression patterns of endogenous circular RNA (circRNA) molecules during epidermal stem cell (EpSC) differentiation have not previously been explored. Here, we show that circRNAs are abundantly expressed in EpSCs and that their expression change dramatically during differentiation in a coordinated manner. Overall, circRNAs are expressed at higher levels in the differentiated cells, and many upregulated circRNAs are derived from developmental genes, including four different circRNAs from DLG1. The observed changes in circRNA expression were largely independent of host gene expression, and circRNAs independently upregulated upon differentiation are more prone to AGO2 binding and have more predicted miRNA binding sites compared to stably expressed circRNAs...
December 28, 2017: RNA Biology
https://www.readbyqxmd.com/read/29276052/nonsyndromic-retinitis-pigmentosa-in-the-ashkenazi-jewish-population-genetic-and-clinical-aspects
#7
Adva Kimchi, Samer Khateb, Rong Wen, Ziqiang Guan, Alexey Obolensky, Avigail Beryozkin, Shoshi Kurtzman, Anat Blumenfeld, Eran Pras, Samuel G Jacobson, Tamar Ben-Yosef, Hadas Newman, Dror Sharon, Eyal Banin
PURPOSE: To analyze the genetic and clinical findings in retinitis pigmentosa (RP) patients of Ashkenazi Jewish (AJ) descent, aiming to identify genotype-phenotype correlations. DESIGN: Cohort study. PARTICIPANTS: Retinitis pigmentosa patients from 230 families of AJ origin. METHODS: Sanger sequencing was performed to detect specific founder mutations known to be prevalent in the AJ population. Ophthalmologic analysis included a comprehensive clinical examination, visual acuity (VA), visual fields, electroretinography, color vision testing, and retinal imaging by OCT, pseudocolor, and autofluorescence fundus photography...
December 22, 2017: Ophthalmology
https://www.readbyqxmd.com/read/29274906/aptr-is-a-prognostic-marker-in-cirrhotic-patients-with-portal-hypertension-during-tips-procedure
#8
Shanshan Yu, Yanhua Qi, Jue Jiang, Hua Wang, Qi Zhou
Portal hypertension is a major cause of mortality and morbidity in cirrhotic patients. In this study, we aimed to analyze the clinical characteristics of Alu-mediated p21 transcriptional regulator (APTR) during transjugular intrahepatic portosystemic shunt (TIPS) procedure. Portal and hepatic venous blood was drawn from 84 patients with liver cirrhosis and portal hypertension before and after TIPS treatment. Then, we detected biochemical, hemodynamic parameters and APTR expression before and after TIPS treatment...
March 1, 2018: Gene
https://www.readbyqxmd.com/read/29259032/analysis-of-chromatin-accessibility-in-decidualizing-human-endometrial-stromal-cells
#9
Pavle Vrljicak, Emma S Lucas, Lauren Lansdowne, Raffaella Lucciola, Joanne Muter, Nigel P Dyer, Jan J Brosens, Sascha Ott
Spontaneous decidualization of the endometrium in response to progesterone signaling is confined to menstruating species, including humans and other higher primates. During this process, endometrial stromal cells (EnSCs) differentiate into specialized decidual cells that control embryo implantation. We subjected undifferentiated and decidualizing human EnSCs to an assay for transposase accessible chromatin with sequencing (ATAC-seq) to map the underlying chromatin changes. A total of 185,084 open DNA loci were mapped accurately in EnSCs...
December 19, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29234321/viral-impact-in-autoimmune-diseases-expanding-the-x-chromosome-nucleolus-nexus-hypothesis
#10
Wesley H Brooks
Viruses are suspected of significant roles in autoimmune diseases but the mechanisms are unclear. We get some insight by considering demands a virus places on host cells. Viruses not only require production of their own proteins, RNA and/or DNA, but also production of additional cellular machinery, such as ribosomes, to handle the increased demands. Since the nucleolus is a major site of RNA processing and ribonucleoprotein assembly, nucleoli are targeted by viruses, directly when viral RNA and proteins enter the nucleolus and indirectly when viruses induce increased expression of cellular polyamine genes...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/29230800/negotiating-quality-standards-for-effective-delivery-of-labor-and-childbirth-care-in-nigeria-and-uganda
#11
Olufemi T Oladapo, Meghan A Bohren, Bukola Fawole, Kidza Mugerwa, Olubunmi A Ojelade, Musibau A Titiloye, Francis E Alu, Musana O Mambya, Lawal Oyeneyin, Salim Bataale, Adesina Akintan, Olubunmi Alabi, Amos Adebayo, Ola Okike, Hadiza A Idris, Sanni Wilfred, Halima Bello, David Kyaddondo, Akinpelu O Olutayo, Josaphat Byamugisha, Joao Paulo Souza, A Metin Gülmezoglu
OBJECTIVE: "Negotiated standards" describe a level of quality of care that is acceptable and achievable within a specific health system, based on consensus between key stakeholders. This paper presents the development of negotiated standards for effective labor and childbirth care in selected hospitals and communities in Nigeria and Uganda. METHODS: A four-step development process involving different methodologies. The process included: (1) review and synthesis of internationally recognized intrapartum clinical principles and practices; (2) primary qualitative research to assess values and preferences of women and healthcare providers, and practices that align with these preferences; (3) draft contextualization of effective and ineffective behaviors to reflect values and preferences; and (4) WHO-mediated negotiations between relevant stakeholders, including community members, providers, and administrators...
December 12, 2017: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/29229810/disease-onset-in-x-linked-dystonia-parkinsonism-correlates-with-expansion-of-a-hexameric-repeat-within-an-sva-retrotransposon-in-taf1
#12
D Cristopher Bragg, Kotchaphorn Mangkalaphiban, Christine A Vaine, Nichita J Kulkarni, David Shin, Rachita Yadav, Jyotsna Dhakal, Mai-Linh Ton, Anne Cheng, Christopher T Russo, Mark Ang, Patrick Acuña, Criscely Go, Taylor N Franceour, Trisha Multhaupt-Buell, Naoto Ito, Ulrich Müller, William T Hendriks, Xandra O Breakefield, Nutan Sharma, Laurie J Ozelius
X-linked dystonia-parkinsonism (XDP) is a neurodegenerative disease associated with an antisense insertion of a SINE-VNTR-Alu (SVA)-type retrotransposon within an intron of TAF1 This unique insertion coincides with six additional noncoding sequence changes in TAF1, the gene that encodes TATA-binding protein-associated factor-1, which appear to be inherited together as an identical haplotype in all reported cases. Here we examined the sequence of this SVA in XDP patients (n = 140) and detected polymorphic variation in the length of a hexanucleotide repeat domain, (CCCTCT)n The number of repeats in these cases ranged from 35 to 52 and showed a highly significant inverse correlation with age at disease onset...
December 19, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29219079/computational-identification-of-harmful-mutation-regions-to-the-activity-of-transposable-elements
#13
Lingling Jin, Ian McQuillan, Longhai Li
BACKGROUND: Transposable elements (TEs) are interspersed DNA sequences that can move or copy to new positions within a genome. TEs are believed to promote speciation and their activities play a significant role in human disease. In the human genome, the 22 AluY and 6 AluS TE subfamilies have been the most recently active, and their transposition has been implicated in many inherited human diseases and in various forms of cancer. Therefore, understanding their transposition activity is very important and identifying the factors that affect their transpositional activity is of great interest...
November 17, 2017: BMC Genomics
https://www.readbyqxmd.com/read/29217004/transapical-transcatheter-aortic-valve-replacement-is-associated-with-increased-cardiac-mortality-in-patients-with-left%C3%A2-ventricular-dysfunction-insights-from-the-partner-i-trial
#14
Sammy Elmariah, William F Fearon, Ignacio Inglessis, Gus J Vlahakes, Brian R Lindman, Maria C Alu, Aaron Crowley, Susheel Kodali, Martin B Leon, Lars Svensson, Philippe Pibarot, Rebecca T Hahn, Vinod H Thourani, Igor F Palacios, D Craig Miller, Pamela S Douglas, Jonathan J Passeri
OBJECTIVES: The authors sought to evaluate the impact of transapical (TA) transcatheter aortic valve replacement (TAVR) on mortality, left ventricular (LV) ejection fraction (LVEF) improvement, and functional recovery in patients with LV dysfunction. BACKGROUND: LV injury inherent to TA access for structural heart disease interventions may be particularly detrimental to the LV, functional recovery, and survival in patients with LV dysfunction. METHODS: The study included patients enrolled within the PARTNER I (Placement of Aortic Transcatheter Valves) trial that underwent transfemoral (TF) or TA TAVR...
December 11, 2017: JACC. Cardiovascular Interventions
https://www.readbyqxmd.com/read/29203771/alu-dependent-rna-editing-of-gli1-promotes-malignant-regeneration-in-multiple-myeloma
#15
Elisa Lazzari, Phoebe K Mondala, Nathaniel Delos Santos, Amber C Miller, Gabriel Pineda, Qingfei Jiang, Heather Leu, Shawn A Ali, Anusha-Preethi Ganesan, Christina N Wu, Caitlin Costello, Mark Minden, Raffaella Chiaramonte, A Keith Stewart, Leslie A Crews, Catriona H M Jamieson
Despite novel therapies, relapse of multiple myeloma (MM) is virtually inevitable. Amplification of chromosome 1q, which harbors the inflammation-responsive RNA editase adenosine deaminase acting on RNA (ADAR)1 gene, occurs in 30-50% of MM patients and portends a poor prognosis. Since adenosine-to-inosine RNA editing has recently emerged as a driver of cancer progression, genomic amplification combined with inflammatory cytokine activation of ADAR1 could stimulate MM progression and therapeutic resistance. Here, we report that high ADAR1 RNA expression correlates with reduced patient survival rates in the MMRF CoMMpass data set...
December 4, 2017: Nature Communications
https://www.readbyqxmd.com/read/29202418/prenatal-urinary-polycyclic-aromatic-hydrocarbon-metabolites-global-dna-methylation-in-cord-blood-and-birth-outcomes-a-cohort-study-in-china
#16
Pan Yang, Ya-Jie Gong, Wen-Cheng Cao, Rui-Xin Wang, Yi-Xin Wang, Chong Liu, Ying-Jun Chen, Li-Li Huang, Song-Hua Ai, Wen-Qing Lu, Qiang Zeng
BACKGROUND: Prenatal exposure to polycyclic aromatic hydrocarbons (PAHs) is a potential risk factor for adverse birth outcomes. Epigenetic mechanisms may play a key role in which PAHs exert its effects. OBJECTIVE: Our study aimed to examine whether prenatal PAH exposure was associated with adverse birth outcomes and altered DNA methylation and to explore potential mediating roles of DNA methylation. METHODS: Ten urinary PAH metabolites were measured from 106 pregnant women during late pregnancy in a Chinese cohort study...
December 1, 2017: Environmental Pollution
https://www.readbyqxmd.com/read/29201321/efficacy-of-potassium-polycitrate-on-renal-stone-and-microlithiasis-predisposed-by-metabolic-disorders
#17
Hadi Sorkhi, Nazanin Saeedizand, Mohammad Poornasrollah, Ali Bijani, Hamid Shafi
Background: According to high prevalence of renal stone in children, we evaluated the efficacy of treatment with potassium citrate and its correlation with metabolic disorders in children less than two years of age with renal stone and microlithiasis. Methods: In this cross- sectionaly study, 100 patients (less than 2 years old) with renal stone or microlitiasis were evaluated for metabolic disorders. They were treated with potassium citrate and followed-up by ultrasonography every 3 months...
2017: Caspian Journal of Internal Medicine
https://www.readbyqxmd.com/read/29187847/a-multilayered-control-of-the-human-survival-motor-neuron-gene-expression-by-alu-elements
#18
REVIEW
Eric W Ottesen, Joonbae Seo, Natalia N Singh, Ravindra N Singh
Humans carry two nearly identical copies of Survival Motor Neuron gene: SMN1 and SMN2. Mutations or deletions of SMN1, which codes for SMN, cause spinal muscular atrophy (SMA), a leading genetic disease associated with infant mortality. Aberrant expression or localization of SMN has been also implicated in other pathological conditions, including male infertility, inclusion body myositis, amyotrophic lateral sclerosis and osteoarthritis. SMN2 fails to compensate for the loss of SMN1 due to skipping of exon 7, leading to the production of SMNΔ7, an unstable protein...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/29183673/effect-of-tribochemical-treatments-and-silane-reactivity-on-resin-bonding-to-zirconia
#19
Raphael Pilo, Maria Dimitriadi, Anna Palaghia, George Eliades
OBJECTIVE: The aim of the study was to assess the roughness, structure and bond strength with zirconia of four grit-blasting treatments combined with three silane types, the reactivity of which was evaluated, as well. METHODS: The grit-blasted treatments performed on zirconia (Lava) were alumina (ALU), CoJet (COJ), SilJet (SLJ) and SilJet Plus (SJP, with silica-encapsulated silane). The other two silanes selected were the S-Bond (SB, prehydrolyzed) and Clearfil Ceramic Primer Plus (CP, prehydrolyzed with 10-MDP)...
November 25, 2017: Dental Materials: Official Publication of the Academy of Dental Materials
https://www.readbyqxmd.com/read/29176737/cgas-drives-noncanonical-inflammasome-activation-in-age-related-macular-degeneration
#20
Nagaraj Kerur, Shinichi Fukuda, Daipayan Banerjee, Younghee Kim, Dongxu Fu, Ivana Apicella, Akhil Varshney, Reo Yasuma, Benjamin J Fowler, Elmira Baghdasaryan, Kenneth M Marion, Xiwen Huang, Tetsuhiro Yasuma, Yoshio Hirano, Vlad Serbulea, Meenakshi Ambati, Vidya L Ambati, Yuji Kajiwara, Kameshwari Ambati, Shuichiro Hirahara, Ana Bastos-Carvalho, Yuichiro Ogura, Hiroko Terasaki, Tetsuro Oshika, Kyung Bo Kim, David R Hinton, Norbert Leitinger, John C Cambier, Joseph D Buxbaum, M Cristina Kenney, S Michal Jazwinski, Hiroshi Nagai, Isao Hara, A Phillip West, Katherine A Fitzgerald, SriniVas R Sadda, Bradley D Gelfand, Jayakrishna Ambati
Geographic atrophy is a blinding form of age-related macular degeneration characterized by retinal pigmented epithelium (RPE) death; the RPE also exhibits DICER1 deficiency, resultant accumulation of endogenous Alu-retroelement RNA, and NLRP3-inflammasome activation. How the inflammasome is activated in this untreatable disease is largely unknown. Here we demonstrate that RPE degeneration in human-cell-culture and mouse models is driven by a noncanonical-inflammasome pathway that activates caspase-4 (caspase-11 in mice) and caspase-1, and requires cyclic GMP-AMP synthase (cGAS)-dependent interferon-β production and gasdermin D-dependent interleukin-18 secretion...
November 27, 2017: Nature Medicine
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