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https://www.readbyqxmd.com/read/28342698/targeted-exome-sequencing-and-chromosomal-microarray-for-the-molecular-diagnosis-of-nevoid-basal-cell-carcinoma-syndrome
#1
Yoshihiro Matsudate, Takuya Naruto, Yumiko Hayashi, Mitsuyoshi Minami, Mikiko Tohyama, Kenji Yokota, Daisuke Yamada, Issei Imoto, Yoshiaki Kubo
BACKGROUND: Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder mainly caused by heterozygous mutations of PTCH1. In addition to characteristic clinical features, detection of a mutation in causative genes is reliable for the diagnosis of NBCCS; however, no mutations have been identified in some patients using conventional methods. OBJECTIVE: To improve the method for the molecular diagnosis of NBCCS. METHODS: We performed targeted exome sequencing (TES) analysis using a multi-gene panel, including PTCH1, PTCH2, SUFU, and other sonic hedgehog signaling pathway-related genes, based on next-generation sequencing (NGS) technology in 8 cases in whom possible causative mutations were not detected by previously performed conventional analysis and 2 recent cases of NBCCS...
March 11, 2017: Journal of Dermatological Science
https://www.readbyqxmd.com/read/28342664/a-novel-live-attenuated-anthrax-spore-vaccine-based-on-an-acapsular-bacillus-anthracis-sterne-strain-with-mutations-in-the-htra-lef-and-cya-genes
#2
Theodor Chitlaru, Ma'ayan Israeli, Shahar Rotem, Uri Elia, Erez Bar-Haim, Sharon Ehrlich, Ofer Cohen, Avigdor Shafferman
We recently reported the development of a novel, next-generation, live attenuated anthrax spore vaccine based on disruption of the htrA (High Temperature Requirement A) gene in the Bacillus anthracis Sterne veterinary vaccine strain. This vaccine exhibited a highly significant decrease in virulence in murine, guinea pig and rabbit animal models yet preserved the protective value of the parental Sterne strain. Here, we report the evaluation of additional mutations in the lef and cya genes, encoding for the toxin components lethal factor (LF) and edema factor (EF), to further attenuate the SterneΔhtrA strain and improve its compatibility for human use...
March 22, 2017: Vaccine
https://www.readbyqxmd.com/read/28342387/isolation-and-characterization-of-a-novel-putative-human-polyomavirus
#3
Tarik Gheit, Sankhadeep Dutta, Javier Oliver, Alexis Robitaille, Shalaka Hampras, Jean-Damien Combes, Sandrine McKay-Chopin, Florence Le Calvez-Kelm, Neil Fenske, Basil Cherpelis, Anna R Giuliano, Silvia Franceschi, James McKay, Dana E Rollison, Massimo Tommasino
The small double-stranded DNA polyomaviruses (PyVs) form a family of 73 species, whose natural hosts are primarily mammals and birds. So far, 13 PyVs have been isolated in humans, and some of them have clearly been associated with several diseases, including cancer. In this study, we describe the isolation of a novel PyV in human skin using a sensitive degenerate PCR protocol combined with next-generation sequencing. The new virus, named Lyon IARC PyV (LIPyV), has a circular genome of 5269 nucleotides. Phylogenetic analyses showed that LIPyV is related to the raccoon PyV identified in neuroglial tumours in free-ranging raccoons...
March 22, 2017: Virology
https://www.readbyqxmd.com/read/28340459/transcriptional-profiling-of-porcine-granulosa-cells-exposed-to-2-3-7-8-tetrachlorodibenzo-p-dioxin
#4
Agnieszka Sadowska, Anna Nynca, Monika Ruszkowska, Lukasz Paukszto, Kamil Myszczynski, Karina Orlowska, Sylwia Swigonska, Tomasz Molcan, Jan P Jastrzebski, Renata E Ciereszko
2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD) is a toxic man-made chemical compound contaminating the environment. An exposure of living organisms to TCDD may result in numerous disorders, including reproductive pathologies. The aim of the current study was to examine the effects of TCDD on the transcriptome of porcine granulosa cell line AVG-16. By employing next-generation sequencing (NGS) we aimed to identify genes potentially involved in the mechanism of TCDD action and toxicity in porcine granulosa cells...
March 16, 2017: Chemosphere
https://www.readbyqxmd.com/read/28340380/the-origin-and-evolution-of-the-term-clone
#5
David P Steensma
In biology, the term "clone" is most widely used to designate genetically identical cells or organisms that are asexually descended from a common progenitor. The concept of clonality in hematology-oncology has received much attention in recent years, as the advent of next-generation sequencing platforms has provided new tools for detection of clonal populations in patients, and experiments on primary cells have provided fascinating new insights into the clonal architecture of human malignancies. The term "clone" is used more loosely by the general public to mean any close or identical copy...
March 4, 2017: Leukemia Research
https://www.readbyqxmd.com/read/28340305/the-clinical-application-of-ngs-based-snp-haplotyping-for-pgd-of-hb-h-disease
#6
Linjun Chen, Zhenyu Diao, Zhipeng Xu, Jianjun Zhou, Guijun Yan, Haixiang Sun
This study investigated the usefulness of next-generation sequencing (NGS)-based single nucleotide polymorphism (SNP) haplotyping for preimplantation genetic diagnosis (PGD) of hemoglobin H (Hb H) disease. Multiple displacement amplification (MDA) was used for whole genome amplification (WGA) of biopsied trophectoderm (TE) cells. Gap-PCR and NGS-based SNP haplotyping was used to distinguish the two genotypes of -α(3.7)/αα and -(SEA)/αα for PGD of Hb H disease. One out of the ten blastocysts (B11) was successfully diagnosed as genotype -α(3...
March 24, 2017: Systems Biology in Reproductive Medicine
https://www.readbyqxmd.com/read/28339946/pasture-flock-chicken-cecal-microbiome-responses-to-prebiotics-and-plum-fiber-feed-amendments
#7
S H Park, A Perrotta, I Hanning, S Diaz-Sanchez, S Pendleton, E Alm, S C Ricke
When prebiotics and other fermentation substrates are delivered to animals as feed supplements, the typical goal is to improve weight gain and feed conversion. In this work, we examined pasture flock chicken cecal contents using next generation sequencing (NGS) to identify and understand the composition of the microbiome when prebiotics and fermentation substrates were supplemented. We generated 16S rRNA sequencing data for 120 separate cecal samples from groups of chickens receiving one of 3 prebiotics or fiber feed additives...
March 3, 2017: Poultry Science
https://www.readbyqxmd.com/read/28339907/o-linked-%C3%AE-n-acetylglucosamine-modification-of-proteins-is-essential-for-foot-process-maturation-and-survival-in-podocytes
#8
Shinya Ono, Shinji Kume, Mako Yasuda-Yamahara, Kosuke Yamahara, Naoko Takeda, Masami Chin-Kanasaki, Hisazumi Araki, Osamu Sekine, Hideki Yokoi, Masashi Mukoyama, Takashi Uzu, Shin-Ichi Araki, Hiroshi Maegawa
Background.: O-linked β- N -acetylglucosamine modification O-GlcNAcylation) is a post-translational modification of intracellular proteins, serving as a nutrient sensor. Growing evidence has demonstrated its physiological and pathological importance in various mammalian tissues. This study examined the physiological role of O-GlcNAcylation in podocyte function and development. Methods.: O-GlcNAc transferase (Ogt) is a critical enzyme for O-GlcNAcylation and resides on the X chromosome...
February 27, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28339894/frequency-of-somatic-tp53-mutations-in-combination-with-known-pathogenic-mutations-as-identified-by-next-generation-sequencing
#9
Zahra Shajani-Yi, Francine De Abreu, Jason Peterson, Gregory Tsongalis
No abstract text is available yet for this article.
March 1, 2017: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28339495/microrna-expression-profiles-identify-disease-specific-alterations-in-systemic-lupus-erythematosus-and-primary-sj%C3%A3-gren-s-syndrome
#10
Ji-Qing Chen, Gábor Papp, Szilárd Póliska, Krisztina Szabó, Tünde Tarr, Bálint László Bálint, Péter Szodoray, Margit Zeher
The discovery of microRNAs (miRNAs) and their critical role in genetic control opened new avenues in understanding of various biological processes including immune cell lineage commitment, differentiation, proliferation and apoptosis. However, a given miRNA may have hundreds of different mRNA targets and a target might be regulated by multiple miRNAs, thus the characterisation of dysregulated miRNA expression profiles could give a better insight into the development of immunological disturbances in autoimmune diseases...
2017: PloS One
https://www.readbyqxmd.com/read/28339323/media-coverage-of-fda-drug-safety-communications-about-zolpidem-a-quantitative-and-qualitative-analysis
#11
Steve Woloshin, Lisa M Schwartz, Sara Dejene, Paula Rausch, Gerald J Dal Pan, Esther H Zhou, Aaron S Kesselheim
FDA issues Drug Safety Communications (DSCs) to alert health care professionals and the public about emerging safety information affecting prescription and over-the-counter drugs. News media may amplify DSCs, but it is unclear how DSC messaging is transmitted through the media. We conducted a content analysis of the lay media coverage reaching the broadest audience to characterize the amount and content of media coverage of two zolpidem DSCs from 2013. After the first DSC, zolpidem news stories increased from 19 stories/week in the preceding 3 months to 153 following its release...
March 24, 2017: Journal of Health Communication
https://www.readbyqxmd.com/read/28339163/next-generation-sequencing-of-urine-specimens-a-novel-platform-for-genomic-analysis-in-patients-with-non-muscle-invasive-urothelial-carcinoma-treated-with-bacille-calmette-gu%C3%A3-rin
#12
Sasinya N Scott, Irina Ostrovnaya, Caroline M Lin, Nancy Bouvier, Bernard H Bochner, Gopakumar Iyer, David Solit, Michael F Berger, Oscar Lin
BACKGROUND: Biopsies from patients with high-risk (HR) non-muscle-invasive urothelial carcinoma (NMIUC), especially flat urothelial carcinoma in situ, frequently contain scant diagnostic material or denuded mucosa only, and this precludes further extensive genomic analysis. This study evaluated the use of next-generation sequencing (NGS) analysis of urine cytology material from patients with HR NMIUC in an attempt to identify genetic alterations that might correlate with clinical features and responses to bacille Calmette-Guérin (BCG) treatment...
March 24, 2017: Cancer
https://www.readbyqxmd.com/read/28338930/expath-tool-a-system-for-comprehensively-analyzing-regulatory-pathways-and-coexpression-networks-from-high-throughput-transcriptome-data
#13
Han-Qin Zheng, Nai-Yun Wu, Chi-Nga Chow, Kuan-Chieh Tseng, Chia-Hung Chien, Yu-Cheng Hung, Guan-Zhen Li, Wen-Chi Chang
Next generation sequencing (NGS) has become the mainstream approach for monitoring gene expression levels in parallel with various experimental treatments. Unfortunately, there is no systematical webserver to comprehensively perform further analysis based on the huge amount of preliminary data that is obtained after finishing the process of gene annotation. Therefore, a user-friendly and effective system is required to mine important genes and regulatory pathways under specific conditions from high-throughput transcriptome data...
March 13, 2017: DNA Research: An International Journal for Rapid Publication of Reports on Genes and Genomes
https://www.readbyqxmd.com/read/28338918/integrated-mirna-and-mrna-expression-profiling-reveals-the-response-regulators-of-a-susceptible-tomato-cultivar-to-early-blight-disease
#14
Deepti Sarkar, Ranjan Kumar Maji, Sayani Dey, Arijita Sarkar, Zhumur Ghosh, Pallob Kundu
Early blight, caused by the fungus Alternaria solani, is a devastating foliar disease of tomatoes, causes massive yield loss each year worldwide. Molecular basis of the compatible host-pathogen interaction was elusive. We adopted next generation sequencing approach to decipher miRNAs and mRNAs that are differentially expressed during Alternaria-stress in tomato. Some of the interesting findings were also validated by alternative techniques. Our analysis revealed 181 known-miRNAs, belonging to 121 miRNA families, of which 67 miRNAs showed at least 2-fold change in expression level with the majority being downregulated...
March 3, 2017: DNA Research: An International Journal for Rapid Publication of Reports on Genes and Genomes
https://www.readbyqxmd.com/read/28338620/a-secure-and-privacy-preserving-navigation-scheme-using-spatial-crowdsourcing-in-fog-based-vanets
#15
Lingling Wang, Guozhu Liu, Lijun Sun
Fog-based VANETs (Vehicular ad hoc networks) is a new paradigm of vehicular ad hoc networks with the advantages of both vehicular cloud and fog computing. Real-time navigation schemes based on fog-based VANETs can promote the scheme performance efficiently. In this paper, we propose a secure and privacy-preserving navigation scheme by using vehicular spatial crowdsourcing based on fog-based VANETs. Fog nodes are used to generate and release the crowdsourcing tasks, and cooperatively find the optimal route according to the real-time traffic information collected by vehicles in their coverage areas...
March 24, 2017: Sensors
https://www.readbyqxmd.com/read/28338604/radar-interferometry-for-monitoring-the-vibration-characteristics-of-buildings-and-civil-structures-recent-case-studies-in-spain
#16
Guido Luzi, Michele Crosetto, Enric Fernández
The potential of a coherent microwave sensor to monitor the vibration characteristics of civil structures has been investigated in the past decade, and successful case studies have been published by different research teams. This remote sensing technique is based on the interferometric processing of real aperture radar acquisitions. Its capability to estimate, simultaneously and remotely, the displacement of different parts of the investigated structures, with high accuracy and repeatability, is its main advantage with respect to conventional sensors...
March 24, 2017: Sensors
https://www.readbyqxmd.com/read/28338590/small-changes-big-effects-the-hemodynamics-of-partial-and-complete-aortic-occlusion-to-inform-next-generation-resuscitation-techniques-and-technologies
#17
M Austin Johnson, Anders J Davidson, Rachel M Russo, Sarah-Ashley E Ferencz, Oren Gotlib, Todd E Rasmussen, Lucas P Neff, Timothy K Williams
BACKGROUND: The transition from complete aortic occlusion during Resuscitative Endovascular Balloon Occlusion of the Aorta (REBOA) can be associated with hemodynamic instability. Technique refinements and new technologies have been proposed to minimize this effect. In order to inform new techniques and technology, we examined the relationship between blood pressure and aortic flow during the restoration of systemic circulation following aortic occlusion at progressive levels of hemorrhage...
March 23, 2017: Journal of Trauma and Acute Care Surgery
https://www.readbyqxmd.com/read/28338312/engineering-nanoscale-iron-oxides-for-uranyl-sorption-and-separation-optimization-of-particle-core-size-and-bilayer-surface-coatings
#18
Wenlu Li, Lyndsay D Troyer, Seung Soo Lee, Jiewei Wu, Changwoo Kim, Brandon J Lafferty, Jeffrey G Catalano, John D Fortner
Herein, we describe engineered superparamagnetic iron oxide nanoparticles (IONPs) as platform materials for enhanced uranyl (UO22+) sorption and separation processes under environmentally relevant conditions. Specifically, monodispersed 8-25 nm iron oxide (magnetite, Fe3O4) nanoparticles with tailored organic acid bilayered coatings have been systematically evaluated and optimized to bind, and thus remove, uranium, from water. The combined non-hydrolytic synthesis and bilayer phase transfer material preparation methods yield highly uniform and surface tailorable IONPs, which allow us to directly evaluate the size-dependent and coating-dependent sorption capacities of IONPs...
March 24, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/28338218/evaluation-of-targeted-exome-sequencing-for-28-protein-based-blood-group-systems-including-the-homologous-gene-systems-for-blood-group-genotyping
#19
Elizna M Schoeman, Genghis H Lopez, Eunike C McGowan, Glenda M Millard, Helen O'Brien, Eileen V Roulis, Yew-Wah Liew, Jacqueline R Martin, Kelli A McGrath, Tanya Powley, Robert L Flower, Catherine A Hyland
BACKGROUND: Blood group single nucleotide polymorphism genotyping probes for a limited range of polymorphisms. This study investigated whether massively parallel sequencing (also known as next-generation sequencing), with a targeted exome strategy, provides an extended blood group genotype and the extent to which massively parallel sequencing correctly genotypes in homologous gene systems, such as RH and MNS. STUDY DESIGN AND METHODS: Donor samples (n = 28) that were extensively phenotyped and genotyped using single nucleotide polymorphism typing, were analyzed using the TruSight One Sequencing Panel and MiSeq platform...
March 24, 2017: Transfusion
https://www.readbyqxmd.com/read/28338003/directional-phonon-suppression-function-as-a-tool-for-the-identification-of-ultralow-thermal-conductivity-materials
#20
Giuseppe Romano, Alexie M Kolpak
Boundary-engineering in nanostructures has the potential to dramatically impact the development of materials for high- efficiency conversion of thermal energy directly into electricity. In particular, nanostructuring of semiconductors can lead to strong suppression of heat transport with little degradation of electrical conductivity. Although this combination of material properties is promising for thermoelectric materials, it remains largely unexplored. In this work, we introduce a novel concept, the directional phonon suppression function, to unravel boundary-dominated heat transport in unprecedented detail...
March 24, 2017: Scientific Reports
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