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https://www.readbyqxmd.com/read/29457884/unique-biochemical-and-sequence-features-enable-blub-to-destroy-flavin-and-distinguish-blub-from-the-flavin-monooxygenase-superfamily
#1
Amrita B Hazra, David P Ballou, Michiko E Taga
Vitamin B12 (cobalamin) is an essential micronutrient for humans that is synthesized only by a subset of bacteria and archaea. The aerobic biosynthesis of 5,6-dimethylbenzimidazole, the lower axial ligand of cobalamin is catalyzed by the "flavin destructase" enzyme BluB, which fragments reduced flavin mononucleotide following its reaction with oxygen to yield this ligand. BluB shares sequence and structural similarity with the flavin oxidoreductase superfamily, yet the flavin destruction process has remained elusive...
February 19, 2018: Biochemistry
https://www.readbyqxmd.com/read/29457789/a-common-variant-alters-scn5a-mir-24-interaction-and-associates-with-heart-failure-mortality
#2
Xiaoming Zhang, Jin-Young Yoon, Michael Morley, Jared M McLendon, Kranti A Mapuskar, Rebecca Gutmann, Haider Mehdi, Heather L Bloom, Samuel C Dudley, Patrick T Ellinor, Alaa A Shalaby, Raul Weiss, W H Wilson Tang, Christine S Moravec, Madhurmeet Singh, Anne L Taylor, Clyde W Yancy, Arthur M Feldman, Dennis M McNamara, Kaikobad Irani, Douglas R Spitz, Patrick Breheny, Kenneth B Margulies, Barry London, Ryan L Boudreau
SCN5A encodes the voltage-gated Na+ channel NaV1.5 that is responsible for depolarization of the cardiac action potential and rapid intercellular conduction. Mutations disrupting the SCN5A coding sequence cause inherited arrhythmias and cardiomyopathy, and single-nucleotide polymorphisms (SNPs) linked to SCN5A splicing, localization, and function associate with heart failure-related sudden cardiac death. However, the clinical relevance of SNPs that modulate SCN5A expression levels remains understudied. We recently generated a transcriptome-wide map of microRNA (miR) binding sites in human heart, evaluated their overlap with common SNPs, and identified a synonymous SNP (rs1805126) adjacent to a miR-24 site within the SCN5A coding sequence...
February 19, 2018: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29456477/dual-diagnosis-of-ellis-van-creveld-syndrome-and-hearing-loss-in-a-consanguineous-family
#3
Barbara Vona, Reza Maroofian, Geetu Mendiratta, Matthew Croken, Siwu Peng, Xiaoqian Ye, Jamileh Rezazadeh, Paulina Bahena, Caroline Lekszas, Thomas Haaf, Lisa Edelmann, Lisong Shi
Multilocus analysis of rare or genetically heterogeneous diseases is a distinct advantage of next-generation sequencing (NGS) over conventional single-gene investigations. Recent studies have begun to uncover an under-recognized prevalence of dual molecular diagnoses in patients with a "blended" phenotype that is the result of 2 clinical diagnoses involving 2 separate genetic loci. This blended phenotype could be mistakenly interpreted as a novel clinical extension of a single-gene disorder. In this study, we ascertained a proband from a large consanguineous Iranian family who manifests postlingual, progressive, moderate hearing loss in addition to suspected Ellis-van Creveld syndrome phenotype...
December 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/29456191/comparative-efficacy-of-low-dose-versus-standard-dose-azithromycin-for-patients-with-yaws-a-randomised-non-inferiority-trial-in-ghana-and-papua-new-guinea
#4
Michael Marks, Oriol Mitjà, Christian Bottomley, Cynthia Kwakye, Wendy Houinei, Mathias Bauri, Paul Adwere, Abdul A Abdulai, Fredrick Dua, Laud Boateng, James Wangi, Sally-Ann Ohene, Regina Wangnapi, Shirley V Simpson, Helen Miag, Kennedy K Addo, Laud A Basing, Damien Danavall, Kai H Chi, Allan Pillay, Ronald Ballard, Anthony W Solomon, Cheng Y Chen, Sibauk V Bieb, Yaw Adu-Sarkodie, David C W Mabey, Kingsley Asiedu
BACKGROUND: A dose of 30 mg/kg of azithromycin is recommended for treatment of yaws, a disease targeted for global eradication. Treatment with 20 mg/kg of azithromycin is recommended for the elimination of trachoma as a public health problem. In some settings, these diseases are co-endemic. We aimed to determine the efficacy of 20 mg/kg of azithromycin compared with 30 mg/kg azithromycin for the treatment of active and latent yaws. METHODS: We did a non-inferiority, open-label, randomised controlled trial in children aged 6-15 years who were recruited from schools in Ghana and schools and the community in Papua New Guinea...
February 15, 2018: Lancet Global Health
https://www.readbyqxmd.com/read/29455143/the-birth-and-death-of-effectors-in-rapidly-evolving-filamentous-pathogen-genomes
#5
REVIEW
Simone Fouché, Clémence Plissonneau, Daniel Croll
Plant pathogenic fungi and oomycetes are major risks to food security due to their evolutionary success in overcoming plant defences. Pathogens produce effectors to interfere with host defences and metabolism. These effectors are often encoded in rapidly evolving compartments of the genome. We review how effector genes emerged and were lost in pathogen genomes drawing on the links between effector evolution and chromosomal rearrangements. Some new effectors entered pathogen genomes via horizontal transfer or introgression...
February 15, 2018: Current Opinion in Microbiology
https://www.readbyqxmd.com/read/29455023/an-innovative-paradigm-of-methods-in-micrornas-detection-highlighting-dnazymes-the-illuminators
#6
REVIEW
Mojdeh Mahdiannasser, Zahra Karami
miRNAs are short regulatory sequences that monitor gene expression at post-transcriptional level. miRNAs play outstanding roles in cellular processes and their altered expression or aberrant function has been reported in diseases such as cancer. Furthermore, some of them serve as biomarkers for prognosis, diagnosis, and prediction of drug effectiveness as well as probable utility in the field of personalized medicine. As a result, proper and sensitive detection of miRNAs is a crucial matter. Traditional approaches including Northern blotting, Microarray, and Quantitative reverse transcription polymerase chain reaction have been extensively employed by means of miRNA detection for decades...
February 8, 2018: Biosensors & Bioelectronics
https://www.readbyqxmd.com/read/29454794/hcv-genotype-6a-escape-from-and-resistance-to-velpatasvir-pibrentasvir-and-sofosbuvir-in-robust-infectious-cell-culture-models
#7
Long V Pham, Santseharay Ramirez, Judith M Gottwein, Ulrik Fahnøe, Yi-Ping Li, Jannie Pedersen, Jens Bukh
BACKGROUND & AIMS: Chronic liver diseases caused by hepatitis C virus (HCV) genotype 6 are prevalent in Asia, and millions of people require treatment with direct-acting antiviral regimens, such as NS5A inhibitor velpatasvir combined with the NS5B polymerase inhibitor sofosbuvir. We developed infectious cell culture models of HCV genotype 6a infection to study the effects of these inhibitors and the development of resistance. METHODS: The consensus sequences of prototype strains HK2 (MG717925) and HK6a (MG717928), originating from serum of patients with chronic HCV infection, were determined by Sanger sequencing of genomes amplified by reverse transcription-PCR...
February 15, 2018: Gastroenterology
https://www.readbyqxmd.com/read/29454369/evaluation-of-piezocision-and-laser-assisted-flapless-corticotomy-in-the-acceleration-of-canine-retraction-a-randomized-controlled-trial
#8
Alaa M H Alfawal, Mohammad Y Hajeer, Mowaffak A Ajaj, Omar Hamadah, Bassel Brad
BACKGROUND: To evaluate the effectiveness of two minimally invasive surgical procedures in the acceleration of canine retraction: piezocision and laser-assisted flapless corticotomy (LAFC). METHODS: Trial design: A single-centre randomized controlled trial with a compound design (two-arm parallel-group design and a split-mouth design for each arm). PARTICIPANTS: 36 Class II division I patients (12 males, 24 females; age range: 15 to 27 years) requiring first upper premolars extraction followed by canine retraction...
February 17, 2018: Head & Face Medicine
https://www.readbyqxmd.com/read/29454054/genomic-perspectives-of-spider-silk-genes-through-target-capture-sequencing-conservation-of-stabilization-mechanisms-and-homology-based-structural-models-of-spidroin-terminal-regions
#9
Matthew A Collin, Thomas H Clarke, Nadia A Ayoub, Cheryl Y Hayashi
A powerful system for studying protein aggregation, particularly rapid self-assembly, is spider silk. Spider silks are proteinaceous and silk proteins are synthesized and stored within silk glands as liquid dope. As needed, liquid dope is near-instantaneously transformed into solid fibers or viscous adhesives. The dominant constituents of silks are spidroins (spider fibroins) and their terminal domains are vital for the tight control of silk self-assembly. To better understand spidroin termini, we used target capture and deep sequencing to identify spidroin gene sequences from six species representing the araneoid families of Araneidae, Nephilidae, and Theridiidae...
February 14, 2018: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/29453765/statistical-assessment-of-dna-extraction-methodology-for-culture-independent-analysis-of-microbial-community-associated-with-diverse-environmental-samples
#10
Rishi Mahajan, Sampan Attri, Kavita Sharma, Niharika Singh, Deepika Sharma, Gunjan Goel
Cost-effectiveness, quality, time-effectiveness and ease of the methodology are the most crucial factors in isolating quality DNA from wide variety of samples. Thus, research efforts focusing on the development of an efficient DNA extraction protocol is the need of the hour. The present study therefore, focuses on development of an efficient, rapid and free of inhibitory substances based methodology for extracting metagenomic DNA from diverse environmental samples viz. anaerobic biogas digesta, ruminant stomach, human feces, soil, and microbial starter cultures used for preparation of fermented food...
February 16, 2018: Molecular Biology Reports
https://www.readbyqxmd.com/read/29453553/-microbiome-atopic-eczema-and-blockade-of-type-2-immunity
#11
REVIEW
M Köberle, T Biedermann
Atopic dermatitis affects roughly 20% of children and 3% of adults in Germany and other industrial countries, with an increasing prevalence. Its causality has still not been conclusively clarified but a type‑2 T‑helper cell mediated immunity reaction (type 2 immunity) dominates cutaneous inflammation. In the quest for the underlying pathogenic mechanisms and the development of improved prevention and treatment options, attention is also increasingly being paid to the influence of microbial colonization...
February 16, 2018: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
https://www.readbyqxmd.com/read/29453452/systematic-and-stochastic-influences-on-the-performance-of-the-minion-nanopore-sequencer-across-a-range-of-nucleotide-bias
#12
Raga Krishnakumar, Anupama Sinha, Sara W Bird, Harikrishnan Jayamohan, Harrison S Edwards, Joseph S Schoeniger, Kamlesh D Patel, Steven S Branda, Michael S Bartsch
Emerging sequencing technologies are allowing us to characterize environmental, clinical and laboratory samples with increasing speed and detail, including real-time analysis and interpretation of data. One example of this is being able to rapidly and accurately detect a wide range of pathogenic organisms, both in the clinic and the field. Genomes can have radically different GC content however, such that accurate sequence analysis can be challenging depending upon the technology used. Here, we have characterized the performance of the Oxford MinION nanopore sequencer for detection and evaluation of organisms with a range of genomic nucleotide bias...
February 16, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29453162/the-effect-of-cadmium-exposure-on-diversity-of-intestinal-microbial-community-of-rana-chensinensis-tadpoles
#13
Danyang Mu, Jinhua Meng, Xiaoxue Bo, Minyao Wu, Hui Xiao, Hongyuan Wang
Cadmium is a natural and widely distributed toxicant, and can be commonly found in environment. Intestinal microbiota plays a very important role in maintaining its host's health. The effects of cadmium on the intestinal microbiota composition and stability of amphibians are little known. We exposed Rana chensinensis (R. chensinensis) embryos to different concentrations of cadmium (0, 112 and 448 μg Cd L -1 ) until they reached Gosner stage 38, and analyzed their microbial communities using 16S rRNA amplicon sequencing...
February 13, 2018: Ecotoxicology and Environmental Safety
https://www.readbyqxmd.com/read/29452952/phasevarions-of-bacterial-pathogens-methylomics-sheds-new-light-on-old-enemies
#14
REVIEW
John M Atack, Aimee Tan, Lauren O Bakaletz, Michael P Jennings, Kate L Seib
A wide variety of bacterial pathogens express phase-variable DNA methyltransferases that control expression of multiple genes via epigenetic mechanisms. These randomly switching regulons - phasevarions - regulate genes involved in pathogenesis, host adaptation, and antibiotic resistance. Individual phase-variable genes can be identified in silico as they contain easily recognized features such as simple sequence repeats (SSRs) or inverted repeats (IRs) that mediate the random switching of expression. Conversely, phasevarion-controlled genes do not contain any easily identifiable features...
February 13, 2018: Trends in Microbiology
https://www.readbyqxmd.com/read/29452732/efficacy-of-pre-hospital-rapid-sequence-intubation-in-paediatric-traumatic-brain-injury-a-9-year-observational-study
#15
Stefan Heschl, Ben Meadley, Emily Andrew, Warwick Butt, Stephen Bernard, Karen Smith
INTRODUCTION: Prehospital airway management of the paediatric patient with traumatic brain injury (TBI) is controversial. Endotracheal intubation of children in the field requires specific skills and has potential benefits but also carries potentially serious complications. We aimed to compare mortality and functional outcomes after six months between children with TBI who either underwent prehospital rapid sequence intubation (RSI) by trained Intensive Care paramedics (ICP) or received no intubation...
February 12, 2018: Injury
https://www.readbyqxmd.com/read/29452722/traumatic-lingual-hematoma-resulting-in-bilateral-temporal-mandibular-joint-dislocations
#16
Dhara P Amin, Michael N Cooper, Kim I Newton
BACKGROUND: Lingual hematoma (LH) is a relatively uncommon entity seen after both medical and traumatic etiologies. Regardless of the cause, the feared complication is acute airway obstruction. CASE REPORT: Our case involves a 39-year-old man who presented to the Emergency Department via emergency medical services with an enlarging LH after an unwitnessed fall, suspected to be an alcohol withdrawal seizure. The bleeding was likely exacerbated by previously undiagnosed thrombocytopenia...
February 13, 2018: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/29451892/assessing-site-formation-and-assemblage-integrity-through-stone-tool-refitting-at-gruta-da-oliveira-almonda-karst-system-torres-novas-portugal-a-middle-paleolithic-case-study
#17
Marianne Deschamps, João Zilhão
We use stone tool refitting to assess palimpsest formation and stratigraphic integrity in the basal units of the Gruta da Oliveira archeo-stratigraphic sequence, layers 15-27, which TL and U-series dating places in late Marine Isotope Stage (MIS) 5 or early MIS 4. As in most karst contexts, the formation of this succession involved multiple and complex phenomena, including subsidence, bioturbation, carnivore activity and runoff as agents of potential post-depositional disturbance. During phases of stabilization, such as represented by layers 15, 21 and 22, the excavated area was inhabited and refits corroborate that post-depositional displacement is negligible...
2018: PloS One
https://www.readbyqxmd.com/read/29451874/a-stochastic-and-dynamical-view-of-pluripotency-in-mouse-embryonic-stem-cells
#18
Yen Ting Lin, Peter G Hufton, Esther J Lee, Davit A Potoyan
Pluripotent embryonic stem cells are of paramount importance for biomedical sciences because of their innate ability for self-renewal and differentiation into all major cell lines. The fateful decision to exit or remain in the pluripotent state is regulated by complex genetic regulatory networks. The rapid growth of single-cell sequencing data has greatly stimulated applications of statistical and machine learning methods for inferring topologies of pluripotency regulating genetic networks. The inferred network topologies, however, often only encode Boolean information while remaining silent about the roles of dynamics and molecular stochasticity inherent in gene expression...
February 16, 2018: PLoS Computational Biology
https://www.readbyqxmd.com/read/29451781/multiple-snps-detection-based-on-lateral-flow-assay-for-phenylketonuria-diagnostic
#19
Xiaonan Liu, Chao Zhang, Kewu Liu, Han Wang, Chaoxia Lu, Hang Li, Kai Hua, Juanli Zhu, Wenli Hui, Yali Cui, Xue Zhang
Single nucleotide polymorphisms (SNPs) are closely related to genetic diseases, but current SNP detection methods, such as DNA microarrays that include tedious procedures and expensive, sophisticated instruments, are unable to perform rapid SNPs detection in clinical practice, especially for those multiple SNPs related to genetic diseases. In this study, we report a sensitive, low cost, and easy-to-use point-of-care testing (POCT) system formed by combining amplification refractory mutation system (ARMS) polymerase chain reaction with gold magnetic nanoparticles (GMNPs) and lateral flow assay (LFA) noted as the ARMS-LFA system, which allow us to use a uniform condition for multiple SNPs detection simultaneously...
February 16, 2018: Analytical Chemistry
https://www.readbyqxmd.com/read/29451745/detection-of-ros1-positive-non-small-cell-lung-cancer-on-cytological-specimens-using-immunocytochemistry
#20
Tatjana Vlajnic, Spasenija Savic, Audrey Barascud, Betty Baschiera, Michel Bihl, Bruno Grilli, Michelle Herzog, Julien Rebetez, Lukas Bubendorf
BACKGROUND: Rearrangements of the ROS1 oncogene are found in 1% to 2% of non-small cell lung cancers (NSCLC) and are regarded as mutually exclusive oncogenic driver mutations. Since the approval of targeted therapy for ROS1-positive NSCLC, ROS1 testing has become a part of the diagnostic routine. Fluorescence in situ hybridization (FISH), optionally selected for by immunohistochemistry on histological material, is a common practice for the detection of ROS1 rearrangements. However, NSCLC often is diagnosed by cytology alone, requiring predictive marker testing on cytological specimens...
February 16, 2018: Cancer Cytopathology
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