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https://www.readbyqxmd.com/read/28822227/inborn-errors-of-metabolism-in-a-cohort-of-pregnancies-with-non-immune-hydrops-fetalis-a-single-center-experience
#1
Zandrè Bruwer, Nihal Al Riyami, Tamima Al Dughaishi, Fathiya Al Murshedi, Abeer Al Sayegh, Adila Al Kindy, Douja Meftah, Khalsa Al Kharusi, Amel Al Foori, Naeema Al Yarubi, Patrick Scott, Khalid Al-Thihli
OBJECTIVE: The purpose of this study was to determine the frequency of non-immune hydrops fetalis (NIHF) among all pregnancies referred for prenatal care at Sultan Qaboos University Hospital (SQUH) during the study period and to evaluate the underlying etiologies of NIH. STUDY DESIGN: All pregnancies referred to SQUH between February 2014 and December 2015 were identified, and all pregnancies meeting the diagnosis of NIHF were included in this study. All cases of NIHF referred to our center during this period underwent standard systematic diagnostic work-up that included biochemical and molecular studies in addition to the standard investigations for hydrops fetalis...
August 19, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28821255/the-whole-genomic-analysis-of-orf-virus-strain-hn3-12-isolated-from-henan-province-central-china
#2
Huiqin Chen, Wei Li, Zhenzhan Kuang, Daxiang Chen, Xiaoqing Liao, Ming Li, Shuhong Luo, Wenbo Hao
BACKGROUND: The Orf virus (ORFV) is the causative agent of orf, a globally-occurring, acute, pustular, contagious disease affecting sheep, goats and humans with a worldwide distribution. Currently, the genomic analysis of four ORFV strains from the Fujian province in southern China and a NA1/11 strain isolated from the Jilin province in northeast China have been reported. However, little is known about the genomic information of ORFV strains from central China. RESULTS: From a recent outbreak in a sheep herd in the Henan province of central China, a novel ORFV strain (HN3/12) was isolated and cultured in ovine fetal turbinate (OFTu) cells...
August 18, 2017: BMC Veterinary Research
https://www.readbyqxmd.com/read/28821241/genetic-diversity-and-virulence-potential-of-clinical-and-environmental-aeromonas-spp-isolates-from-a-diarrhea-outbreak
#3
Lívia Christina Alves da Silva, Tereza Cristina Leal-Balbino, Beatriz Souza Toscano de Melo, Carina Lucena Mendes-Marques, Antonio Mauro Rezende, Alzira Maria Paiva de Almeida, Nilma Cintra Leal
BACKGROUND: Aeromonas spp. are gram-negative bacteria that can cause a variety of infections in both humans and animals and play a controversial role in diarrhea outbreaks. Our aim was to identify clinical and environmental Aeromonas isolates associated with a cholera outbreak in a northeast county of Brazil at the species level. We also aimed to determine the genetic structure of the bacterial population and the virulence potential of the Aeromonas isolates. METHODS AND RESULTS: Analysis based on concatenated sequences of the 16S rRNA and gyrB genes suggested the classification of the 119 isolates studied into the following species: A...
August 18, 2017: BMC Microbiology
https://www.readbyqxmd.com/read/28821189/y-chromosome-markers-for-the-red-fox
#4
Halie M Rando, Jeremy T Stutchman, Estelle R Bastounes, Jennifer L Johnson, Carlos A Driscoll, Christina S Barr, Lyudmila N Trut, Benjamin N Sacks, Anna V Kukekova
The de novo assembly of the red fox (Vulpes vulpes) genome has facilitated the development of genomic tools for the species. Efforts to identify the population history of red foxes in North America have previously been limited by a lack of information about the red fox Y-chromosome sequence. However, a megabase of red fox Y-chromosome sequence was recently identified over 2 scaffolds in the reference genome. Here, these scaffolds were scanned for repeated motifs, revealing 194 likely microsatellites. Twenty-three of these loci were selected for primer development and, after testing, produced a panel of 11 novel markers that were analyzed alongside 2 markers previously developed for the red fox from dog Y-chromosome sequence...
September 1, 2017: Journal of Heredity
https://www.readbyqxmd.com/read/28820948/prevalence-and-expression-of-staphylococcal-enterotoxin-genes-in-i-staphylococcus-aureus-i-isolated-from-food-poisoning-outbreaks
#5
Caroline Peixoto Bastos, Milena Tomasi Bassani, Marcia Magalhães Mata, Graciela Volz Lopes, Wladimir Padilha Silva
<i>Staphylococcus aureus</i> is an important pathogen of foodborne origin. The pathogen produces a variety of toxins that includes the staphylococcal enterotoxin (SE). The present study aimed to evaluate the prevalence and expression of five SE genes (<i>sea</i>, <i>seb</i>, <i>sec</i>, <i>sed</i>, and <i>see</i>) in <i>S. aureus</i> isolated from outbreaks occurred in the Rio Grande do Sul state, Brazil. All isolates, with the exception of two, presented the same or higher transcriptional expression than the reference strains for at least one of these genes...
August 18, 2017: Canadian Journal of Microbiology
https://www.readbyqxmd.com/read/28820094/massilia-solisilvae-sp-nov-massilia-terrae-sp-nov-and-massilia-agilis-sp-nov-isolated-from-forest-soil-in-south-korea-by-using-a-newly-developed-culture-method
#6
Khulan Altankhuu, Jaisoo Kim
Using a newly developed culture method for not yet cultured soil bacteria, three Gram-stain-negative, aerobic, non-spore-forming, motile, and rod-shaped bacteria (strain designated J18T, J11T and J9T) were isolated from forest soil at Kyonggi University, South Korea. Isolates were subjected to a taxonomic study by using a polyphasic approach. According to a phylogenetic tree based on 16S rRNA gene sequences, strains J18T, J11T and J9T belonged to the genus Massilia and clustered with Massilia haematophila CCUG 38318T (similarity range: 97...
August 18, 2017: International Journal of Systematic and Evolutionary Microbiology
https://www.readbyqxmd.com/read/28819216/identification-of-endogenous-reference-genes-for-rt-qpcr-expression-analysis-in-urochloa-brizantha-under-abiotic-stresses
#7
Luciana Midori Takamori, Alyne Valéria Carrion Pereira, Gustavo Maia Souza, Luiz Gonzaga Esteves Vieira, Alessandra Ferreira Ribas
Urochloa brizantha is one of the most important warm season forage grasses in tropical countries. Despite its importance, there are few studies on gene expression in this species under stressful conditions. Real-time (RT-qPCR) is an accurate technique for gene quantification analysis, but reference genes must be validated under the same conditions used to assess the expression of the target genes. Here, we evaluated the stability of nine reference genes: Actin 12, Eukaryotic initiation factor 4 A, Elongation factor-1 alpha, FTSH protease 4, U2 auxiliary fator, Succinol Co-enzyme A, Tubulin alfa-5, Tubulin beta-6, Ubiquitin conjugating enzyme...
August 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28819152/dissecting-the-genomic-activity-of-a-transcriptional-regulator-by-the-integrative-analysis-of-omics-data
#8
Giulio Ferrero, Valentina Miano, Marco Beccuti, Gianfranco Balbo, Michele De Bortoli, Francesca Cordero
In the study of genomic regulation, strategies to integrate the data produced by Next Generation Sequencing (NGS)-based technologies in a meaningful ensemble are eagerly awaited and must continuously evolve. Here, we describe an integrative strategy for the analysis of data generated by chromatin immunoprecipitation followed by NGS which combines algorithms for data overlap, normalization and epigenetic state analysis. The performance of our strategy is illustrated by presenting the analysis of data relative to the transcriptional regulator Estrogen Receptor alpha (ERα) in MCF-7 breast cancer cells and of Glucocorticoid Receptor (GR) in A549 lung cancer cells...
August 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28819071/genetic-and-non-genetic-factors-associated-with-protein-abundance-of-flavin-containing-monooxygenase-3-in-human-liver
#9
Meijuan Xu, Deepak Kumar Bhatt, Catherine K Yeung, Katrina G Claw, Amarjit S Chaudhry, Andrea Gaedigk, Robin E Pearce, Ulrich Broeckel, Roger Gaedigk, Debbie Nickerson, Erin Schuetz, Allan E Rettie, Steven Leeder, Kenneth E Thummel, Bhagwat Prasad
Hepatic flavin-containing monooxygenase 3 (FMO3) metabolizes a broad array of nucleophilic heteroatom (e.g., N or S)-containing xenobiotics (e.g., amphetamine, sulindac, benzydamine, ranitidine, tamoxifen, nicotine, and ethioniamide), as well as endogenous compounds (e.g., catecholamine and trimethylamine). To predict the effect of genetic and non-genetic factors on the hepatic metabolism of FMO3 substrates, we quantified FMO3 protein abundance in human liver microsomes (HLM; n=445) by LC-MS/MS proteomics. Genotyping/gene-resequencing, mRNA expression, and functional activity (with benzydamine as a probe substrate) of FMO3 were also performed...
August 17, 2017: Journal of Pharmacology and Experimental Therapeutics
https://www.readbyqxmd.com/read/28818600/a-reverse-hybridization-test-for-the-identification-of-76-pneumococcal-serotypes-42-individually-and-34-in-pairs
#10
José M Marimón, María Morales, Susana Gamen, Ana Manrique, María Ercibengoa, Gustavo Cilla
The S. PneumoStrip test is a recently developed reverse hybridization strip-based commercial assay that allows for the identification of 76 pneumococcal serotypes, 42 individually and 34 in pairs, according to their specific gene sequences. The test was validated with reference strains of 92 different pneumococcal serotypes and with a selection of 75 clinical isolates representing 55 serotypes, showing 100% sensitivity and specificity. The test was also applied to 64 pneumococcal invasive isolates (23 different serotypes) consecutively collected between June 2016 and March 2017, with 60 (93...
August 14, 2017: Journal of Microbiological Methods
https://www.readbyqxmd.com/read/28817785/diving-into-the-world-of-alcohol-teratogenesis-a-review-of-zebrafish-models-of-fetal-alcohol-spectrum-disorders
#11
Yohaan Fernandes, Desirè M Buckley, Johann K Eberhart
Fetal alcohol spectrum disorders (FASD) refer to the entire suite of deleterious outcomes resulting from embryonic alcohol exposure. Along with other reviews in this edition, we provide insight into how animal models, specifically the zebrafish; have informed our understanding of FASD. We first provide a brief introduction to FASD. We discuss the zebrafish as a model organism and its strengths for alcohol research. We detail how zebrafish has been used to model some of the major defects present in FASD. These include behavioral defects, such as social behavior as well as learning and memory, and structural defects, disrupting organs such as the brain, sensory organs, heart and craniofacial skeleton...
August 17, 2017: Biochemistry and Cell Biology, Biochimie et Biologie Cellulaire
https://www.readbyqxmd.com/read/28817735/association-of-gene-expression-with-biomass-content-and-composition-in-sugarcane
#12
Nam V Hoang, Agnelo Furtado, Angela J O'Keeffe, Frederik C Botha, Robert J Henry
About 64% of the total aboveground biomass in sugarcane production is from the culm, of which ~90% is present in fiber and sugars. Understanding the transcriptome in the sugarcane culm, and the transcripts that are associated with the accumulation of the sugar and fiber components would facilitate the modification of biomass composition for enhanced biofuel and biomaterial production. The Sugarcane Iso-Seq Transcriptome (SUGIT) database was used as a reference for RNA-Seq analysis of variation in gene expression between young and mature tissues, and between 10 genotypes with varying fiber content...
2017: PloS One
https://www.readbyqxmd.com/read/28817728/evaluation-of-reference-genes-for-reverse-transcription-quantitative-real-time-pcr-rt-qpcr-studies-in-silene-vulgaris-considering-the-method-of-cdna-preparation
#13
Pavla Koloušková, James D Stone, Helena Štorchová
Accurate gene expression measurements are essential in studies of both crop and wild plants. Reverse transcription quantitative real-time PCR (RT-qPCR) has become a preferred tool for gene expression estimation. A selection of suitable reference genes for the normalization of transcript levels is an essential prerequisite of accurate RT-qPCR results. We evaluated the expression stability of eight candidate reference genes across roots, leaves, flower buds and pollen of Silene vulgaris (bladder campion), a model plant for the study of gynodioecy...
2017: PloS One
https://www.readbyqxmd.com/read/28817611/the-directed-migration-of-gonadal-distal-tip-cells-in-caenorhabditis-elegans-requires-ngat-1-a-%C3%A3-1-4-n-acetylgalactosaminyltransferase-enzyme
#14
Joseph Veyhl, Robert J Dunn, Wendy L Johnston, Alexa Bennett, Lijia W Zhang, James W Dennis, Harry Schachter, Joseph G Culotti
Glycoproteins such as growth factor receptors and extracellular matrix have well-known functions in development and cancer progression, however, the glycans at sites of modification are often heterogeneous molecular populations which makes their functional characterization challenging. Here we provide evidence for a specific, discrete, well-defined glycan modification and regulation of a stage-specific cell migration in Caenorhabditis elegans. We show that a chain-terminating, putative null mutation in the gene encoding a predicted β1,4-N-acetylgalactosaminyltransferase, named ngat-1, causes a maternally rescued temperature sensitive (ts) defect in the second phase of the three phase migration pattern of the posterior, but not the anterior, hermaphrodite Distal Tip Cell (DTC)...
2017: PloS One
https://www.readbyqxmd.com/read/28815851/basics-of-genome-editing-technology-and-its-application-in-livestock-species
#15
REVIEW
Bjoern Petersen
In the last decade, the research community has witnessed a blooming of targeted genome editing tools and applications. Novel programmable DNA nucleases such as zinc finger nucleases (ZFNs), transcription activator-like endonucleases (TALENs) and the clustered regularly interspaced short palindromic repeats/Cas9 system (CRISPR/Cas9) possess long recognition sites and are capable of cutting DNA in a very specific manner. These DNA nucleases mediate targeted genetic alterations by enhancing the DNA mutation rate via induction of double-strand breaks at a predetermined genomic site...
August 2017: Reproduction in Domestic Animals, Zuchthygiene
https://www.readbyqxmd.com/read/28815726/differential-expression-profile-analysis-of-lncrna-uca1%C3%AE-regulated-mrnas-in-bladder-cancer
#16
Yu Wang, Hong Zhang, Xu Li, Wei Chen
Urothelial carcinoma associated 1α (UCA1α) is a novel long non-coding RNA (lncRNA) that regulates bladder cancer proliferation, migration, and invasion. The target genes of UCA1α have, however, not been identified. To address this, a pCDNA3.1(+)-UCA1α over-expression vector was transfected into UM-UC-2 bladder cancer cells. Genes differentially expressed between pCDNA3.1(+)-UCA1α and pCDNA3.1(+) transfected cell were then detected by microarray and bioinformatics analysis. A total of seventy-one differentially expressed genes were identified, including fifty-two up-regulated genes and nineteen down-regulated genes...
August 16, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28815002/a-comprehensive-method-for-identification-of-suitable-reference-genes-in-extracellular-vesicles
#17
Kenneth Gouin, Kiel Peck, Travis Antes, Jennifer Leigh Johnson, Chang Li, Sharon Denise Vaturi, Ryan Middleton, Geoff de Couto, Ann-Sophie Walravens, Luis Rodriguez-Borlado, Rachel Ruckdeschel Smith, Linda Marbán, Eduardo Marbán, Ahmed Gamal-Eldin Ibrahim
Reverse transcription-quantitative polymerase chain reaction (RT-qPCR) is one of the most sensitive, economical and widely used methods for evaluating gene expression. However, the utility of this method continues to be undermined by a number of challenges including normalization using appropriate reference genes. The need to develop tailored and effective strategies is further underscored by the burgeoning field of extracellular vesicle (EV) biology. EVs contain unique signatures of small RNAs including microRNAs (miRs)...
2017: Journal of Extracellular Vesicles
https://www.readbyqxmd.com/read/28814334/abernethy-malformation-associated-with-caroli-s-syndrome-in-a-patient-with-a-pkhd1-mutation-a-case-report
#18
Xiao-Xiao Mi, Xiao-Guang Li, Zi-Rong Wang, Ling Lin, Chun-Hai Xu, Jun-Ping Shi
BACKGROUND: Abernethy malformation is a rare congenital anomaly characterised by the partial or complete absence of the portal vein and the subsequent development of an extrahepatic portosystemic shunt. Caroli's disease is a rare congenital condition characterised by non-obstructive saccular intrahepatic bile duct dilation. Caroli's disease combined with congenital hepatic fibrosis and/or renal cystic disease is referred to - Caroli's syndrome. The combination of Abernethy malformation and Caroli's syndrome has not been reported previously...
August 16, 2017: Diagnostic Pathology
https://www.readbyqxmd.com/read/28814267/sex-and-tissue-specific-gene-expression-patterns-identified-following-de-novo-transcriptomic-analysis-of-the-norway-lobster-nephrops-norvegicus
#19
Guiomar Rotllant, Tuan Viet Nguyen, Valerio Sbragaglia, Lifat Rahi, Kevin J Dudley, David Hurwood, Tomer Ventura, Joan B Company, Vincent Chand, Jacopo Aguzzi, Peter B Mather
BACKGROUND: The Norway lobster, Nephrops norvegicus, is economically important in European fisheries and is a key organism in local marine ecosystems. Despite multi-faceted scientific interest in this species, our current knowledge of genetic resources in this species remains very limited. Here, we generated a reference de novo transcriptome for N. norvegicus from multiple tissues in both sexes. Bioinformatic analyses were conducted to detect transcripts that were expressed exclusively in either males or females...
August 16, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28813576/joint-analysis-of-nuclear-and-mitochondrial-variants-in-age-related-macular-degeneration-identifies-novel-loci-trpm1-and-abhd2-rlbp1
#20
Patrice J Persad, Iris M Heid, Daniel E Weeks, Paul N Baird, Eiko K de Jong, Jonathan L Haines, Margaret A Pericak-Vance, William K Scott
Purpose: Presently, 52 independent nuclear single nucleotide polymorphisms (nSNPs) have been associated with age-related macular degeneration (AMD) but their effects do not explain all its variance. Genetic interactions between the nuclear and mitochondrial (mt) genome may unearth additional genetic loci previously unassociated with AMD risk. Methods: Joint effects of nSNPs and selected mtSNPs were analyzed by two degree of freedom (2df) joint tests of association in the International AMD Genomics Consortium (IAMDGC) dataset (17,832 controls and 16,144 advanced AMD cases of European ancestry)...
August 1, 2017: Investigative Ophthalmology & Visual Science
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