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https://www.readbyqxmd.com/read/29793068/prenatal-phthalate-exposure-birth-outcomes-and-dna-methylation-of-alu-and-line-1-repetitive-elements-a-pilot-study-in-china
#1
Li-Li Huang, Bin Zhou, Song-Hua Ai, Pan Yang, Ying-Jun Chen, Chong Liu, Yan-Ling Deng, Qing Lu, Xiao-Ping Miao, Wen-Qing Lu, Yi-Xin Wang, Qiang Zeng
BACKGROUND: Epigenetic mechanisms, such as altered DNA methylation, may participate in the relationship between prenatal phthalate exposure and adverse birth outcomes. OBJECTIVE: To explore the mediation effect of DNA methylation in the associations of phthalate exposure before delivery with birth outcomes in a Chinese cohort. METHODS: Eight phthalate metabolites in maternal urine before delivery and DNA methylation of Alu and long interspersed nucleotide elements (LINE-1) in cord blood were determined among 106 mother-infant pairs...
May 7, 2018: Chemosphere
https://www.readbyqxmd.com/read/29790873/diversity-of-genetic-events-associated-with-mlh1-promoter-methylation-in-lynch-syndrome-families-with-heritable-constitutional-epimutation
#2
Julie Leclerc, Cathy Flament, Tonio Lovecchio, Lucie Delattre, Emilie Ait Yahya, Stéphanie Baert-Desurmont, Nelly Burnichon, Myriam Bronner, Odile Cabaret, Sophie Lejeune, Rosine Guimbaud, Gilles Morin, Jacques Mauillon, Philippe Jonveaux, Pierre Laurent-Puig, Thierry Frébourg, Nicole Porchet, Marie-Pierre Buisine
PurposeConstitutional epimutations are an alternative to genetic mutations in the etiology of genetic diseases. Some of these epimutations, termed secondary, correspond to the epigenetic effects of cis-acting genetic defects transmitted to the offspring following a Mendelian inheritance pattern. In Lynch syndrome, a few families with such apparently heritable MLH1 epimutations have been reported so far.MethodsWe designed a long-range polymerase chain reaction next-generation sequencing strategy to screen MLH1 entire gene and applied it to 4 French families with heritable epimutations and 10 additional patients with no proven transmission of their epimutations...
April 12, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29789676/the-angiotensin-i-converting-enzyme-insertion-deletion-in-polymorphic-element-codes-for-an-aluya5-rna-that-downregulates-gene-expression
#3
REVIEW
Fernando F P Mafra, Pedro P Gattai, Michel M Macedo, Marcelo A Mori, Ronaldo C Araujo
Angiotensin-I-converting enzyme (ACE) is involved in the synthesis and degradation of important bioactive peptides. The ACE gene has a 287-bp insertion/deletion polymorphism that controls ACE expression through a mechanism that remains elusive. In this study, we found that the 287-bp polymorphic element of the ACE gene, a member of the AluYa5 sub-family of Alu elements, codes for an RNA molecule that controls the levels of ACE mRNA. Transient transfection of a plasmid containing a CMV promoter upstream of the ACE polymorphic element resulted in significant expression of an AluYa5 RNA and reduced ACE mRNA expression as well as ACE enzymatic activity in AD 293 cells...
May 23, 2018: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/29787579/conformity-of-package-inserts-information-to-regulatory-requirements-among-selected-branded-and-generic-medicinal-products-circulating-on-the-east-african-market
#4
Hiiti B Sillo, Nelson E Masota, Sunday Kisoma, Lembit Rago, Veronica Mgoyela, Eliangiringa A Kaale
BACKGROUND: Availability of correct and adequate information about medicines is an important aspect in ensuring rational use of medicines and hence facilitating safety and expected efficacy of medicines during therapy. Package inserts have proven to be a good source of information to the prescribers and patients whereby they have been useful in highlighting important information pertaining proper use and handling of the medicines. The present study was aimed at establishing the extent to which package inserts of medicines circulating on the markets of the East African Community (EAC) Partner States conform to medicines information requirements as established in the harmonized guidelines as well as national guidelines...
2018: PloS One
https://www.readbyqxmd.com/read/29784571/familial-hypercholesterolemia-with-extensive-coronary-artery-disease-and-tuberous-and-tendinous-xanthomas-a-case-report-and-mutation-analysis
#5
Deniz Agirbasli, Tommy Hyatt, Mehmet Agirbasli
This is a case report of a 38-year-old Syrian refugee male with early-onset extensive atherosclerosis. The physical and laboratory examination were remarkable with severe xanthomas in the upper and lower extremities and with low-density lipoprotein cholesterol (LDL-C) 417 mg/dL, total cholesterol 495 mg/dL, high-density lipoprotein cholesterol 30 mg/dL, and triglycerides 242 mg/dL. LDL-C level responded poorly to the high-dose statin treatment. The genetic analysis indicated that the patient had a large homozygous deletion in LDL receptor gene including the exons 7-14...
April 26, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29781741/slowly-progressive-retinitis-pigmentosa-caused-by-two-novel-mutations-in-the-mak-gene
#6
Joanna Monika Gray, Harry Otway Orlans, Morag Shanks, Penny Clouston, Robert Elvis MacLaren
BACKGROUND: The growing number of clinical trials currently underway for inherited retinal diseases has highlighted the importance of achieving a molecular diagnosis for all new cases presenting to hospital eye services. The male germ cell-associated kinase (MAK) gene encodes a cilium-associated protein selectively expressed in the retina and testis, and has recently been implicated in autosomal recessive retinitis pigmentosa (RP). Whole exome sequencing has previously identified a homozygous Alu insertion in probands with recessive RP and nonsense and missense mutations have also been reported...
May 21, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29774526/retrotransposable-genetic-elements-causing-neutrophil-defects
#7
REVIEW
Dirk Roos, Martin de Boer
Retrotransposable elements are stretches of DNA that encode proteins with the inherent ability to insert their own RNA or another RNA by reverse transcriptase as DNA into a new genomic location. In humans, the only autonomous retrotransposable elements are members of the Long INterspersed Element-1 (LINE-1) family. LINE-1s may cause gene inactivation and human disease. We present a brief summary of the published knowledge about LINE-1s in humans and the RNAs that these elements can transpose, and we focus on the effect of LINE-1-mediated retrotransposition on human neutrophil function...
May 17, 2018: European Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29770739/-express-novel-ntrk1-mutations-in-chinese-patients-with-congenital-insensitivity-to-pain-with-anhidrosis
#8
Xingzhu Geng, Yanshan Liu, Xiuzhi Ren, Yun Guan, Yanzhou Wang, Bin Mao, Xiuli Zhao, Xue Zhang
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disorder, characterized by loss of algesthesis and inability to sweat. CIPA is known to be caused by mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1). However, the details of NTRK1 mutations in Chinese CIPA patients remain unclear. In the present study, we recruited 36 CIPA patients from 34 unrelated families in mainland China. Blood samples from these patients and their available familial members were collected and subjected to genetic analysis...
January 1, 2018: Molecular Pain
https://www.readbyqxmd.com/read/29770436/all-i-s-on-the-radar-role-of-adar-in-gene-regulation
#9
REVIEW
Galina Shevchenko, Kevin V Morris
Adenosine to inosine (A-to-I) editing is the most abundant form of RNA modification in mammalian cells, which is catalyzed by adenosine deaminase acting on the double-stranded RNA (ADAR) protein family. A-to-I editing is currently known to be involved in the regulation of the immune system, RNA splicing, protein recoding, microRNA biogenesis, and formation of heterochromatin. Editing occurs within regions of double-stranded RNA, particularly within inverted Alu repeats, and is associated with many diseases including cancer, neurological disorders, and metabolic syndromes...
May 16, 2018: FEBS Letters
https://www.readbyqxmd.com/read/29765538/prognostic-value-of-the-dna-integrity-index-in-patients-with-malignant-lung-tumors
#10
Dimple Y Chudasama, Zeynep Aladag, Mayla I Felicien, Marcia Hall, Julie Beeson, Nizar Asadi, Yori Gidron, Emmanouil Karteris, Vladimir B Anikin
Introduction: Lung cancer survival remains poor in the western world due to late presentation in most cases, leading to difficulty of treatment in these advanced and metastatic patients. Therefore, the development of a robust biomarker for prognosis and to monitor treatment response and relapse would be of great benefit. The use of Alu repeats and DNA Integrity Index has been shown to hold both diagnostic and prognostic value, and as it is obtained from the plasma of patients, it can serve as a non-invasive tool for routine monitoring...
April 20, 2018: Oncotarget
https://www.readbyqxmd.com/read/29760810/dna-methylation-and-socioeconomic-status-in-a-mexican-american-birth-cohort
#11
Eric S Coker, Robert Gunier, Karen Huen, Nina Holland, Brenda Eskenazi
Background: Maternal social environmental stressors during pregnancy are associated with adverse birth and child developmental outcomes, and epigenetics has been proposed as a possible mechanism for such relationships. Methods: In a Mexican-American birth cohort of 241 maternal-infant pairs, cord blood samples were measured for repeat element DNA methylation ( LINE-1 and Alu ). Linear mixed effects regression was used to model associations between indicators of the social environment (low household income and education, neighborhood-level characteristics) and repeat element methylation...
2018: Clinical Epigenetics
https://www.readbyqxmd.com/read/29756032/spin-and-valley-polarized-one-way-klein-tunneling-in-photonic-topological-insulators
#12
Xiang Ni, David Purtseladze, Daria A Smirnova, Alexey Slobozhanyuk, Andrea Alù, Alexander B Khanikaev
Recent advances in condensed matter physics have shown that the spin degree of freedom of electrons can be efficiently exploited in the emergent field of spintronics, offering unique opportunities for efficient data transfer, computing, and storage ( 1 - 3 ). These concepts have been inspiring analogous approaches in photonics, where the manipulation of an artificially engineered pseudospin degree of freedom can be enabled by synthetic gauge fields acting on light ( 4 - 6 ). The ability to control these degrees of freedom significantly expands the landscape of available optical responses, which may revolutionize optical computing and the basic means of controlling light in photonic devices across the entire electromagnetic spectrum...
May 2018: Science Advances
https://www.readbyqxmd.com/read/29748604/microrna-29b-142-5p-contribute-to-the-pathogenesis-of-biliary-atresia-by-regulating-the-ifn-%C3%AE-gene
#13
Yifan Yang, Zhu Jin, Rui Dong, Chao Zheng, Yanlei Huang, Yijie Zheng, Zhen Shen, Gong Chen, Xiaoying Luo, Shan Zheng
Biliary atresia is one of the most common liver disease in infancy. The cause and pathogenesis remain largely unknown. This study aimed to investigate the potential regulatory effect of miR-29b/142-5p on IFN-γ gene methylation. miRNAs microarray was performed on four pairs of liver and blood specimens from biliary atresia and choledochal cysts. We found the overexpression of miR-142-5p and mRNA level of DNA methyltransferase (DNMT) 1, and miR-29b and DNMT3a/DNMT3b were significantly negatively correlated in biliary atresia livers...
May 10, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29747491/gastric-mucosal-atrophy-impedes-housekeeping-gene-methylation-in-gastric-cancer-patients
#14
Jung-Hwan Oh, Mun-Gan Rhyu, Suk-Il Kim, Mi-Ri Yun, Jung-Ha Shin, Seung-Jin Hong
Purpose: Helicobacter pylori infection induces phenotype-stabilizing methylation and promotes gastric mucosal atrophy that can inhibit CpG-island methylation. Relationship between the progression of gastric mucosal atrophy and the initiation of CpG-island methylation was analyzed to delineate epigenetic period for neoplastic transformation. Materials and Methods: Normal-appearing gastric mucosa was biopsied from 110 H. pylori‒positive controls, 95 H. pylori‒negative controls, 99 gastric cancer patients, and 118 gastric dysplasia patients...
April 30, 2018: Cancer Research and Treatment: Official Journal of Korean Cancer Association
https://www.readbyqxmd.com/read/29741615/the-incidence-and-prognostic-implications-of-worsening-right-ventricular-function-after-surgical-or-transcatheter-aortic-valve-replacement-insights-from-partner-iia
#15
Paul C Cremer, Yiran Zhang, Maria Alu, L Leonardo Rodriguez, Brian R Lindman, Alan Zajarias, Rebecca T Hahn, Stamatios Lerakis, S Chris Malaisrie, Pamela S Douglas, Philippe Pibarot, Lars G Svensson, Martin B Leon, Wael A Jaber
Aims: In patients randomized to transcatheter or surgical aortic valve replacement (TAVR, SAVR), we sought to determine whether SAVR is associated with worsening right ventricular (RV) function and whether RV deterioration is associated with mortality. Methods and results: In 1376 patients from PARTNERIIA with paired baseline and 30-day core lab echocardiograms, worsening RV function was defined as decline by at least one grade from baseline to 30 days. Our primary outcome was all-cause mortality from 30 days to 2 years...
May 8, 2018: European Heart Journal
https://www.readbyqxmd.com/read/29740478/a-novel-whole-gene-deletion-of-bckdhb-by-alu-mediated-non-allelic-recombination-in-a-chinese-patient-with-maple-syrup-urine-disease
#16
Gang Liu, Dingyuan Ma, Ping Hu, Wen Wang, Chunyu Luo, Yan Wang, Yun Sun, Jingjing Zhang, Tao Jiang, Zhengfeng Xu
Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder caused by mutations in the BCKDHA, BCKDHB, DBT , and DLD genes. Among the wide range of disease-causing mutations in BCKDHB , only one large deletion has been associated with MSUD. Compound heterozygous mutations in BCKDHB were identified in a Chinese patient with typical MSUD using next-generation sequencing, quantitative PCR, and array comparative genomic hybridization. One allele presented a missense mutation (c.391G > A), while the other allele had a large deletion; both were inherited from the patient's unaffected parents...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29728562/optical-circulation-in-a-multimode-optomechanical-resonator
#17
Freek Ruesink, John P Mathew, Mohammad-Ali Miri, Andrea Alù, Ewold Verhagen
Breaking the symmetry of electromagnetic wave propagation enables important technological functionality. In particular, circulators are nonreciprocal components that can route photons directionally in classical or quantum photonic circuits and offer prospects for fundamental research on electromagnetic transport. Developing highly efficient circulators thus presents an important challenge, especially to realise compact reconfigurable implementations that do not rely on magnetic fields to break reciprocity. We demonstrate optical circulation utilising radiation pressure interactions in an on-chip multimode optomechanical system...
May 4, 2018: Nature Communications
https://www.readbyqxmd.com/read/29709192/enhanced-photoresponse-in-metasurface-integrated-organic-photodetectors
#18
Xin Xu, Hoyeong Kwon, Brian Gawlik, Nasim Estakhri, Andrea Alu, S V Sreenivasan, Ananth Dodabalapur
In this work, we experimentally demonstrate metasurface-enhanced photoresponse in organic photodetectors. We have designed and integrated a metasurface with broadband functionality into an organic photodetector, with the goal of significantly increasing the absorption of light and generated photocurrent from 560 nm up to 690 nm. We discuss how the metasurface can be integrated with the fabrication of an organic photodiode. Our results show large gains in responsivity from 1.5X to 2X between 560 nm and 690 nm...
April 30, 2018: Nano Letters
https://www.readbyqxmd.com/read/29708779/genome-wide-analysis-of-the-association-of-transposable-elements-with-gene-regulation-suggests-that-alu-elements-have-the-largest-overall-regulatory-impact
#19
Lu Zeng, Stephen M Pederson, Danfeng Cao, Zhipeng Qu, Zhiqiang Hu, David L Adelson, Chaochun Wei
Nearly half of the human genome is made up of transposable elements (TEs), and there is evidence that TEs are involved in gene regulation. In this study, we have integrated publicly available genomic, epigenetic, and transcriptomic data to investigate this in a genome-wide manner. A bootstrapping statistical method was applied to minimize confounder effects from different repeat types. Our results show that although most TE classes are primarily associated with reduced gene expression, Alu elements are associated with upregulated gene expression...
April 30, 2018: Journal of Computational Biology: a Journal of Computational Molecular Cell Biology
https://www.readbyqxmd.com/read/29701836/diagnostic-value-of-serum-concentration-and-integrity-of-circulating-cell-free-dna-in-breast-cancer-a-comparative-study-with-cea-and-ca15-3
#20
Zijie Tang, Li Li, Lei Shen, Xianjuan Shen, Shaoqing Ju, Hui Cong
Breast cancer (BC) is one of the most common types of malignant neoplasm in women; the incidence of BC increases yearly. In a previous study, a novel and sensitive method for quantitying cell-free DNA (CFD) in human blood was established and tested for its ability to predict which patients harbored tumors. Our objective in this study was to investigate the clinical value of serum concentration and the integrity of circulating free DNA (CFD) as a biomarker for auxiliary diagnosis of BC. The concentration of CFD was quantitated by branched DNA (bDNA)-based Alu assay...
April 26, 2018: Laboratory Medicine
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