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https://www.readbyqxmd.com/read/29146976/association-of-a-variant-in-the-gene-encoding-for-erv1-chemr23-with-reduced-inflammation-in-visceral-adipose-tissue-from-morbidly-obese-individuals
#1
Cristina López-Vicario, Bibiana Rius, José Alcaraz-Quiles, Ana González-Périz, Ana Isabel Martínez-Puchol, Mireia Casulleras, Marta Duran-Güell, Ainitze Ibarzabal, Ricard Corcelles, Andrés Laguna-Fernández, Magnus Back, Esther Titos, Joan Clària
Obesity comorbidities are closely associated with chronic low-grade adipose tissue inflammation. A number of SNPs associated with inflammation has been identified, underscoring the impact of genetic determinants on this process. Here, we screened SNPs in genes with pro-inflammatory (IL-1β, IL-6, STAT3 and JAK2), anti-inflammatory (IL-10 and SOCS3) and pro-resolving (ERV1/ChemR23) properties in 101 obese and 99 non-obese individuals. Among the SNPs analyzed, we identified that individuals carrying a C allele in the rs1878022 polymorphism of the ERV1/ChemR23 gene, which encodes for the receptor of the pro-resolving mediator RvE1, had increased ERV1/ChemR23 protein expression and reduced levels of the inflammatory cytokine IL-6 in adipose tissue...
November 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29146914/cat-d-a-targeted-sequencing-method-for-the-simultaneous-detection-of-small-dna-mutations-and-large-dna-deletions-with-flexible-boundaries
#2
Ru Hong, Udita Chandola, Li-Feng Zhang
We developed a targeted DNA sequencing method that is capable of detecting a comprehensive panel of DNA mutations including small DNA mutations and large DNA deletions with unknown/flexible boundaries. The method directly identifies the large DNA deletions (Cat-D) without relying on sequencing coverage to make the genotype calls. We performed the method to simultaneously detect 10 small DNA mutations in β-thalassemia and 2 large genomic deletions in α-thalassemia from 10 genomic DNA samples. Cat-D was performed on 8 genomic DNA samples in duplicate...
November 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29146902/single-molecule-multiplexed-nanopore-protein-screening-in-human-serum-using-aptamer-modified-dna-carriers
#3
Jasmine Y Y Sze, Aleksandar P Ivanov, Anthony E G Cass, Joshua B Edel
The capability to screen a range of proteins at the single-molecule level with enhanced selectivity in biological fluids has been in part a driving force in developing future diagnostic and therapeutic strategies. The combination of nanopore sensing and nucleic acid aptamer recognition comes close to this ideal due to the ease of multiplexing, without the need for expensive labelling methods or extensive sample pre-treatment. Here, we demonstrate a fully flexible, scalable and low-cost detection platform to sense multiple protein targets simultaneously by grafting specific sequences along the backbone of a double-stranded DNA carrier...
November 16, 2017: Nature Communications
https://www.readbyqxmd.com/read/29146210/novel-intracellular-transport-refractory-mutations-in-kcnh2-identified-in-patients-with-symptomatic-long-qt-syndrome
#4
Daisuke Fukumoto, Wei-Guang Ding, Yuko Wada, Yusuke Fujii, Mari Ichikawa, Koichiro Takayama, Megumi Fukuyama, Koichi Kato, Hideki Itoh, Takeru Makiyama, Mariko Omatsu-Kanbe, Hiroshi Matsuura, Minoru Horie, Seiko Ohno
BACKGROUND: Missense mutations in KCNH2, a gene encoding the Kv11.1 channel, cause long QT syndrome (LQTS) type 2 primarily by disrupting the intracellular transport of Kv11.1 to the plasma membrane. The present study aimed to clarify the functional changes by two novel KCNH2 missense mutations. METHODS: We performed genetic screening of three unrelated symptomatic LQTS probands with family histories of cardiac symptoms. Chinese hamster ovary cells were transfected with wild-type (WT) and/or mutant KCNH2 plasmid and examined by patch-clamp technique...
November 13, 2017: Journal of Cardiology
https://www.readbyqxmd.com/read/29144512/ashkenazi-jewish-genomic-variants-integrating-data-from-the-israeli-national-genetic-database-and-gnomad
#5
Joël Zlotogora, George P Patrinos, Vardiella Meiner
PurposeThe aim of the study was to compare the data for mutations related to clinical disorders reported among Ashkenazi Jewish patients in the Israeli National Genetic Database (INGD) with variants included in the Genome Aggregation Database (gnomAD).MethodsWe extracted data for mutations claimed to cause disorders reported among Ashkenazi Jews from the INGD and searched gnomAD for each of them. We compared the allele frequency of each variant in Ashkenazi Jews with that of other delineated populations.ResultsOf the 58 INGD-reported mutations related to autosomal-dominant disorders, 19 were present in gnomAD (32...
November 16, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29143420/investigation-of-surface-sulfurization-in-cuin1-xgaxs2-ysey-thin-films-to-enhance-photovoltaic-properties
#6
Haeri Kim, Se Jin Park, Byungwoo Kim, Yun Jeong Hwang, Byoung Koun Min
CuIn1-xGaxS2-ySey (CIGSSe) thin films have attracted a great deal of attention as a promising absorbing material for solar cell applications due to their favorable optical properties (e.g. a direct band gap and high absorption coefficients) and stable structure. Many studies have sought to improve the efficiency of solar cells using these films, and it has been found that surface modification via post heat treatment can lead to surface passivation of surface defects and a subsequent increase in efficiency. The surface properties of solution-processed CIGSSe films are considered to be particularly important in this respect due to the fact they are more prone to defects...
November 15, 2017: Chemphyschem: a European Journal of Chemical Physics and Physical Chemistry
https://www.readbyqxmd.com/read/29142995/screening-of-novel-rgd-peptides-to-modify-nanoparticles-for-targeted-cancer-therapy
#7
Liang Ge, Xinru You, Keqing Huang, Yang Kang, Yuejian Chen, Ying Zhu, Yuan Ren, Yuan Zhang, Jun Wu, Hai Qian
New targeted RGD peptides obtained by solid phase peptide synthesis (SPPS) were successfully screened by Molecular Operating Environment (MOE) and used for the building of the 6-O-carboxymethyl chitosan based carrier with an active target on the surface. CRGDYC-6-O-carboxymethyl chitosan based nanoparticles (NPs) loaded with doxorubicin hydrochloride (DOX) were successfully prepared by an ionic gelation method with the carrier synthesized before. Synthesis conditions and formulation parameters were optimized by determining the characteristics of nanoparticles including the particle size and drug encapsulation efficiency...
November 16, 2017: Biomaterials Science
https://www.readbyqxmd.com/read/29141402/-epidemiology-of-the-carbapenemase-producing-enterobacteriaceae-spread-in-a-community-acute-hospital-and-a-non-acute-rehabilitation-hospital-in-madrid
#8
M López-Dosil, C Bischofberge, D Sáez, C García-Picazo
OBJECTIVE: In Spain, the overall prevalence of carbapenem-resistant Enterobacteriaceae (CRE) is increasing. We describe the epidemiological, clinical and microbiological characteristics features of patients with colonization or infection due to CRE in two hospitals in the north-west of Madrid during two years. One hospital was a community acute hospital and the second one was a non-acute rehabilitation hospital. METHODS: A total of 197 CPE isolates were detected during 2013-2014...
November 14, 2017: Revista Española de Quimioterapia: Publicación Oficial de la Sociedad Española de Quimioterapia
https://www.readbyqxmd.com/read/29141136/systemic-mrna-delivery-to-the-lungs-by-functional-polyester-based-carriers
#9
Yunfeng Yan, Hu Xiong, Xinyi Zhang, Qiang Cheng, Daniel John Siegwart
Messenger RNA (mRNA) has recently come into focus as an emerging therapeutic class with great potential for protein replacement therapy, cancer immunotherapy, regenerative medicine, vaccines, and gene editing. However, the lack of effective and safe delivery methods impedes the broad application of mRNA-based therapeutics. Here, we report a robust approach to develop efficient polymeric delivery carriers for mRNA. Lead polyesters were identified by in vitro screening of a 480-member combinatorially modified poly(trimethylolpropane allyl ether-co-suberoyl chloride) library for the delivery of luciferase encoding mRNA (Luc mRNA) to IGROV1 cells...
November 15, 2017: Biomacromolecules
https://www.readbyqxmd.com/read/29140390/a-carboxylated-graphene-nanodisks-glucose-oxidase-nanotags-and-mn-cds-tio2-matrix-based-dual-signal-amplification-strategy-for-ultrasensitive-photoelectrochemical-detection-of-tumor-markers
#10
Jie Song, Shuo Wu, Xinlan Yang, Jingli Yuan
Graphene nanodisks with good conductivity and plenty of edge sites were synthesized to load glucose oxidase (GRD-GOD) and coupled with a Mn(2+) doped CdS quantum dot (QD) modified TiO2 electrode (CdS:Mn/TiO2) for a highly sensitive photoelectrochemical (PEC) immunoassay. The specific immune-recognition behaviour can bring the GRD-GOD labelled antigen into the antibody immobilized CdS:Mn/TiO2 interface and dramatically enhance the photocurrent response via a dual signal amplification strategy. First, graphene nanodisks with a strong electron transfer capacity can improve the conductivity of both the insulating protein layers and the CdS:Mn/TiO2 matrix, thus facilitating the regeneration of trapped carriers and hot electrons in the CdS:Mn QD films and enhancing the PEC performance...
November 15, 2017: Analyst
https://www.readbyqxmd.com/read/29139551/members-of-the-deal-subfamily-of-the-duf1218-gene-family-are-required-for-bilateral-symmetry-but-not-for-dorsoventrality-in-arabidopsis-leaves
#11
David Wilson-Sánchez, Sebastián Martínez-López, Sergio Navarro-Cartagena, Sara Jover-Gil, José Luis Micol
Most plant leaves exhibit bilateral symmetry, which has been hypothesized as an inevitable consequence of the existence of the proximodistal and dorsoventral axes. No gene has been described that affects leaf bilateral symmetry but not dorsoventrality in Arabidopsis thaliana. We screened for viable insertional mutations that affect leaf morphology, and out of more than 700 mutants found only one, desigual1-1 (deal1-1), that exhibited bilateral symmetry breaking but no obvious defects in dorsoventrality. We found that deal1-1 is an allele of VASCULATURE COMPLEXITY AND CONNECTIVITY (VCC)...
November 15, 2017: New Phytologist
https://www.readbyqxmd.com/read/29138287/clopidogrel-carboxylic-acid-glucuronidation-is-mediated-mainly-by-ugt2b7-ugt2b4-and-ugt2b17-implications-for-pharmacogenetics-and-drug-drug-interactions
#12
Helina Kahma, Anne M Filppula, Mikko Neuvonen, E Katriina Tarkiainen, Aleksi Tornio, Mikko T Holmberg, Matti K Itkonen, Moshe Finel, Pertti J Neuvonen, Mikko Niemi, Janne T Backman
The antiplatelet drug clopidogrel is metabolized to an acyl-β-D-glucuronide, which causes time-dependent inactivation of CYP2C8. Our aim was to characterize the UDP-glucuronosyltransferase (UGT) enzymes that are responsible for the formation of clopidogrel acyl-β-D-glucuronide. Kinetic analyses and targeted inhibition experiments were performed using pooled human liver and intestine microsomes (HLM and HIM, respectively) and selected human recombinant UGTs based on preliminary screening. The effects of relevant UGT polymorphisms on the pharmacokinetics of clopidogrel were evaluated in 106 healthy volunteers...
November 14, 2017: Drug Metabolism and Disposition: the Biological Fate of Chemicals
https://www.readbyqxmd.com/read/29138116/in-silico-identification-of-genes-involved-in-chronic-metabolic-acidosis
#13
Ishfaq A Sheikh, Adeel Malik, Sameera F M AlBasri, Mohd A Beg
AIMS: Chronic metabolic acidosis (CMA) refers to increased plasma acidity due to disturbed acid-base equilibrium in human body. CMA leads to many dysfunctions including disorders of intestinal metabolism and barrier functions. The human body responds to these intestinal dysfunctions by creating a compensatory mechanism at genomic level in intestinal epithelial cells. This study was to identify the molecular pathways involved in metabolic dysfunction and compensatory adaptations in intestinal epithelium during CMA...
November 11, 2017: Life Sciences
https://www.readbyqxmd.com/read/29137817/beyond-als-and-ftd-the-phenotypic-spectrum-of-tbk1-mutations-includes-psp-like-and-cerebellar-phenotypes
#14
Carlo Wilke, Jonathan Baets, Jan L De Bleecker, Tine Deconinck, Saskia Biskup, Stefanie N Hayer, Stephan Züchner, Rebecca Schüle, Peter De Jonghe, Matthis Synofzik
Mutations in the TANK-binding kinase 1 gene (TBK1) are a rare, but recurrent cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). However, the complete phenotypic spectrum of syndromes associated with TBK1 mutations remains to be elucidated. Using next-generation panel-sequencing of neurodegenerative disease genes, we identified a TBK1 index patient presenting with a progressive supranuclear palsy-like syndrome. Consecutively, we screened the whole-exome sequencing data of 439 index subjects presenting with various neurodegenerative syndromes outside the ALS-FTD spectrum for TBK1 mutations...
October 24, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/29137457/monoclonal-antibody-that-recognizes-diethoxyphospho-tyrosine-modified-proteins-and-peptides-independent-of-surrounding-amino-acids
#15
Seda Onder, Alicia J Dafferner, Lawrence M Schopfer, Gaoping Xiao, Udaya Yerramalla, Ozden Tacal, Thomas A Blake, Rudolph C Johnson, Oksana Lockridge
Acetylcholinesterase (AChE) and butyrylcholinesterase (BChE) are irreversibly inhibited by organophosphorus pesticides through formation of a covalent bond with the active site serine. Proteins that have no active site serine, for example albumin, are covalently modified on tyrosine and lysine. Chronic illness from pesticide exposure is not explained by inhibition of AChE and BChE. Our goal was to produce a monoclonal antibody that recognizes proteins diethoxyphosphorylated on tyrosine. Diethoxyphosphate-tyrosine adducts for 13 peptides were synthesized...
November 14, 2017: Chemical Research in Toxicology
https://www.readbyqxmd.com/read/29135906/effect-of-age-and-allele-variants-of-cyp3a5-cyp3a4-and-por-genes-on-the-pharmacokinetics-of-cyclosporin-a-in-pediatric-renal-transplant-recipients-from-serbia
#16
Mirjana Cvetković, Maja Zivković, Maja Bundalo, Ivana Gojković, Brankica Spasojević-Dimitrijeva, Aleksandra Stanković, Mirjana Kostić
BACKGROUND: The interindividual variability of cyclosporin A (CsA) pharmacokinetics might be explained by heterogeneity in the cytochrome P450 3A (CYP3A) subfamily. Altered CYP3A enzyme activity was associated with variant allele of P450 oxidoreductase gene (POR*28). The aim of this study was to assess the impact of age, CYP3A5*3, CYP3A4*22, and POR*28 alleles on CsA pharmacokinetics in pediatric renal transplant recipients. METHODS: Renal transplant patients receiving CsA (n = 47) were genotyped for CYP3A5*3, CYP3A4*22, and POR*28...
December 2017: Therapeutic Drug Monitoring
https://www.readbyqxmd.com/read/29134150/hcv-core-antigen-is-an-alternative-marker-to-hcv-rna-for-evaluating-active-hcv-infection-implications-for-improved-diagnostic-option-in-an-era-of-affordable-daas
#17
Rujipat Wasitthankasem, Preeyaporn Vichaiwattana, Chompoonut Auphimai, Nipaporn Siripon, Sirapa Klinfueng, Pisit Tangkijvanich, Sompong Vongpunsawad, Yong Poovorawan
The core antigen of the hepatitis C virus (HCV Ag) presents an alternative marker to HCV RNA when screening patients for HCV viremia. This study sought to evaluate the utility of HCV Ag as a marker to assess active HCV infection in individuals residing in an HCV-endemic area. From 298 HCV-seropositive individuals evaluated for the presence of anti-HCV antibody, HCV Ag and HCV RNA, anti-HCV antibody was detected in 252 individuals (signal-to-cutoff ratios ≥5), HCV RNA was detected in 222 individuals (88%), and HCV Ag was reactive (≥3 fmol/L) in 220 individuals (87%)...
2017: PeerJ
https://www.readbyqxmd.com/read/29127349/hydrogen-adsorption-on-doped-mos2-nanostructures
#18
Mikko Hakala, Rasmus Kronberg, Kari Laasonen
Electrochemical devices for efficient production of hydrogen as energy carrier rely still largely on rare platinum group metal catalysts. Chemically and structurally modified metal dichalcogenide MoS2 is a promising substitute for these critical raw materials at the cathode side where the hydrogen evolution reaction takes place. For precise understanding of structure and hydrogen adsorption characteristics in chemically modified MoS2 nanostructures, we perform comprehensive density functional theory calculations on transition metal (Fe, Co, Ni, Cu) doping at the experimentally relevant MoS2 surfaces at substitutional Mo-sites...
November 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29127338/identification-and-in-vitro-characterization-of-two-new-pcsk9-gain-of-function-variants-found-in-patients-with-familial-hypercholesterolemia
#19
Maria Donata Di Taranto, Asier Benito-Vicente, Carola Giacobbe, Kepa Belloso Uribe, Paolo Rubba, Aitor Etxebarria, Ornella Guardamagna, Marco Gentile, Cesar Martín, Giuliana Fortunato
Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by pathogenic variants in genes encoding for LDL receptor (LDLR), Apolipoprotein B and Proprotein convertase subtilisin/kexin type 9 (PCSK9). Among PCSK9 variants, only Gain-of- Function (GOF) variants lead to FH. Greater attention should be paid to the classification of variants as pathogenic. Two hundred sixty nine patients with a clinical suspect of FH were screened for variants in LDLR and the patients without pathogenic variants were screened for variants in PCSK9 and APOB...
November 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29121968/association-of-ifitm3-rs12252-polymorphisms-bmi-diabetes-and-hypercholesterolemia-with-mild-flu-in-an-iranian-population
#20
Parvaneh Mehrbod, Sana Eybpoosh, Fatemeh Fotouhi, Hadiseh Shokouhi Targhi, Vahideh Mazaheri, Behrokh Farahmand
BACKGROUND: IFITM3 has been suggested to be associated with infection in some ethnic groups. Diabetes and hypercholesterolemia are also important clinical conditions that can predispose individuals to infection. The aim of this study was to investigate the association of rs12252 C polymorphism, BMI, diabetes, and hypercholesterolemia with mild flu in an Iranian population. METHODS: We conducted a case-control study, including 79 mild flu and 125 flu-negative individuals attending primary care centers of three provinces of Iran (i...
November 9, 2017: Virology Journal
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