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https://www.readbyqxmd.com/read/28639312/quantification-of-transmission-risk-in-a-male-patient-with-a-flnb-mosaic-mutation-causing-larsen-syndrome-implications-for-genetic-counselling-in-post-zygotic-mosaicism-cases
#1
Marie Bernkopf, David Hunt, Nils Koelling, Tim Morgan, Amanda L Collins, Joanna Fairhurst, Stephen P Robertson, Andrew G L Douglas, Anne Goriely
We report the case of a male patient with Larsen syndrome found to be mosaic for a novel point mutation in FLNB in whom it was possible to provide evidence-based personalised counselling on transmission risk to future offspring. Using dideoxy-sequencing, a low-level FLNB c.698A>G, encoding p.(Tyr233Cys) mutation was detected in buccal mucosa and fibroblast DNA. Mutation quantification was performed by deep Next-Generation sequencing (NGS) of DNA extracted from three somatic tissues (blood, fibroblasts, saliva) and a sperm sample...
June 21, 2017: Human Mutation
https://www.readbyqxmd.com/read/28636169/a-novel-double-nucleotide-variant-in-the-ferritin-l-iron-responsive-element-in-a-finnish-patient-with-hereditary-hyperferritinaemia-cataract-syndrome
#2
Roosa-Maria Mattila, Annele Sainio, Marketta Järveläinen, Juha Pursiheimo, Hannu Järveläinen
PURPOSE: To present a novel Finnish double nucleotide variant in the iron-responsive element (IRE) of the ferritin L-chain gene (FTL) leading to hyperferritinaemia-cataract syndrome (HHCS). METHODS: Genomic DNA extracted from peripheral blood leucocytes and synthetized with three different primers flanking the IRE in the FTL 5'-untranslated region of the FTL was used in polymerase chain reaction (PCR). Thereafter, Sanger sequencing was performed on the 487-bp and 602-bp PCR amplification products with specific primers to reveal FTL IRE mutations...
June 21, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/28633099/simultaneous-and-specific-enrichment-of-several-amphenicol-antibiotics-residues-in-food-based-on-novel-aptamer-functionalized-magnetic-adsorbents-using-hplc-dad
#3
Shengfeng Huang, Ning Gan, Haibo Liu, You Zhou, Yinji Chen, Yuting Cao
In this work, a novel aptamer functionalized magnetic adsorbent was developed and combined with magnetic dispersive solid phase extraction (MDSPE) for selective enrichment of several amphenicol antibiotics residues (chloramphenicol(CAP), thiamphenicol(TAP) and florphenicol(FF)) in foodstuff then determined by High Performance Liquid Chromatography (HPLC)-Diode array detector(DAD). Firstly, a magnetic silica-coated Fe3O4 microsphere(Fe3O4@SiO2) was synthetized by sol-gel method, then it was functionalized by amino groups through 3-Aminopropyltriethoxysilane (APTES) reagent to form Fe3O4@SiO2-NH2; Thirdly, the amino group on Fe3O4@SiO2-NH2 was transferred to carboxylic group via the succinic anhydride to form Fe3O4@SiO2-COOH...
June 12, 2017: Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
https://www.readbyqxmd.com/read/28632788/high-throughput-identification-and-rational-design-of-synergistic-small-molecule-pairs-for-combating-and-bypassing-antibiotic-resistance
#4
Morgan A Wambaugh, Viplendra P S Shakya, Adam J Lewis, Matthew A Mulvey, Jessica C S Brown
Antibiotic-resistant infections kill approximately 23,000 people and cost $20,000,000,000 each year in the United States alone despite the widespread use of small-molecule antimicrobial combination therapy. Antibiotic combinations typically have an additive effect: the efficacy of the combination matches the sum of the efficacies of each antibiotic when used alone. Small molecules can also act synergistically when the efficacy of the combination is greater than the additive efficacy. However, synergistic combinations are rare and have been historically difficult to identify...
June 2017: PLoS Biology
https://www.readbyqxmd.com/read/28632119/alkaliphilus-namsaraevii-sp-nov-an-alkaliphilic-iron-and-sulfur-reducing-bacterium-isolated-from-a-steppe-soda-lake
#5
Anastasiya Zakharyuk, Lyudmila Kozyreva, Elena Ariskina, Olga Troshina, Dmitry Kopitsyn, Viktoria Shcherbakova
A novel alkaliphilic spore-forming bacterium was isolated from the benthic sediments of the highly mineralized steppe Lake Khilganta (Transbaikal Region, Russia). Cells of the strain, designated Х-07-2T, were straight to slightly curved rods, Gram-stain-positive and motile. Strain Х-07-2T grew in the pH range from 7.0 to 10.7 (optimum pH 9.6-10.3). Growth was observed at 25-47 °C (optimum 30 °C) and at an NaCl concentration from 5 to 150 g l-1 with an optimum at 40 g l-1. Strain Х-07-2T was a chemo-organoheterotroph able to reduce amorphous ferric hydroxide, Fe(III) citrate and elemental sulfur in the presence of yeast extract as the electron donor...
June 20, 2017: International Journal of Systematic and Evolutionary Microbiology
https://www.readbyqxmd.com/read/28629504/sulfodiicoccus-acidiphilus-gen-nov-sp-nov-a-sulfur-inhibited-thermoacidophilic-archaeon-belonging-to-the-order-sulfolobales-isolated-from-a-terrestrial-acidic-hot-spring
#6
Hiroyuki D Sakai, Norio Kurosawa
A novel thermoacidophilic archaeon, strain HS-1T, was isolated from the Hakone Ohwaku-dani hot spring in Japan. Cells of strain HS-1T in exponential phase were cocci to irregular cocci with a diameter of 0.8-1.5 µm. The strain grew within a temperature range of 50-70 °C (optimal: 65-70 °C), a pH range of pH 1.4-5.5 (optimal: pH 3.0-3.5) and a NaCl concentration range of 0-2.5 % (w/v). The novel strain grew in aerobic conditions but did not grow anaerobically. Moreover, this strain utilized various complex substrates (beef extract, casamino acids, peptone, tryptone and yeast extract) and sugars (arabinose, xylose, galactose, glucose, maltose, sucrose, raffinose and lactose) as sole carbon sources...
June 20, 2017: International Journal of Systematic and Evolutionary Microbiology
https://www.readbyqxmd.com/read/28628667/characterization-of-hiv-1-crf90_bf1-and-putative-novel-crfs_bf1-in-central-west-north-and-northeast-brazilian-regions
#7
Mônica Nogueira da Guarda Reis, Gonzalo Bello, Monick Lindenmeyer Guimarães, Mariane Martins Araújo Stefani
The Brazilian AIDS epidemic has been characterized by an increasing rate of BF1 recombinants and so far eight circulating recombinant forms/CRFs_BF1 have been described countrywide. In this study, pol sequences (protease/PR, reverse transcriptase/RT) of 87 BF1 mosaic isolates identified among 828 patients living in six Brazilian States from three geographic regions (Central West, North, Northeast) were analyzed. Phylogenetic and bootscan analyses were performed to investigate the evolutionary relationship and mosaic structure of BF1 isolates...
2017: PloS One
https://www.readbyqxmd.com/read/28622062/novel-zinc-finger-protein-gene-469-znf469-variants-in-advanced-keratoconus
#8
Elvin Yildiz, Handan Bardak, Murat Gunay, Yavuz Bardak, Serhat Imamoglu, Halil Ozbas, Ozkan Bagci
PURPOSE: Common polymorphic variants upstream of Zinc finger protein gene 469 (ZNF469) have been associated with central corneal thickness. Rare ZNF469 variants have been shown in keratoconus patients. The aim of the current study was to investigate the frequency of ZNF 469 gene variants in rapidly progressive advance keratoconus patients who underwent corneal transplant surgery by the age of 30, compared to their frequency in the normal Turkish population. METHODS: A search in a patient database was performed to identify patients with a rapidly progressive keratoconus requiring corneal transplant surgery by the age of 30 in at least one eye...
June 16, 2017: Current Eye Research
https://www.readbyqxmd.com/read/28606269/-application-of-gene-capture-technology-on-mutation-screening-of-rb1-gene-in-retinoblastoma-patients
#9
Q Y Meng, L Z Huang, B Wang, X X Li, J H Liang
Objectives: To analyze RB1 gene mutation in retinoblastoma (RB) patients using gene capture technology. Methods: Experimental research. The clinical data of 17 RB patients were collected at Department of Ophthalmology, Peking University People's Hospital from June 2010 to Jun 2014. Peripheral blood samples of seventeen RB patients and their parents were collected and genomic DNA were extracted. DNA library from RB patients was mixed with designed gene capture probe of RB1 exons and its flanking sequences. The data were analyzed using bioinformatics software...
June 11, 2017: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/28605506/multi-locus-and-long-amplicon-sequencing-approach-to-study-microbial-diversity-at-species-level-using-the-miniontm-portable-nanopore-sequencer
#10
Alfonso Benítez-Páez, Yolanda Sanz
Background: The miniaturised and portable DNA sequencer MinION TM has demonstrated great potential in different analyses such as genome-wide sequencing, pathogen outbreak detection and surveillance, human genome variability, and microbial diversity. In this study, we tested the ability of the MinION TM platform to perform long amplicon sequencing in order to design new approaches to study microbial diversity using a multi-locus approach. Results: After compiling a robust database by parsing and extracting the rrn bacterial region from more than 67,000 complete or draft bacterial genomes, we demonstrated that the data obtained during sequencing of the long amplicon in the MinION TM device using R9 and R9...
June 12, 2017: GigaScience
https://www.readbyqxmd.com/read/28604962/-identification-of-a-novel-slc26a4-mutation-in-a-child-with-enlarge-vestibular-aqueduct-syndrome
#11
Donglan Sun, Weihong Mu, Yanhua Zhang, Hong Gao, Fang Fang, Mei Yu, Lijuan Zhao, Jing Zhang, Dongqing Mi, Lijia Chang, Qinying Cao
OBJECTIVE: To analyze mutations of SLC26A4 gene and explore their origins for a patient with enlarge vestibuar aqueduct syndrome. METHODS: Clinical data and peripheral venous blood samples were collected from the patient and her parents. Genome DNA was extracted from the peripheral blood. All of the 21 exons of the SLC26A4 gene were amplified with PCR and subjected to directly sequencing. RESULTS: The patient was found to have carried two mutant alleles of the SLC26A4 gene, namely c...
June 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28604953/-genetic-analysis-of-a-pedigree-affected-with-inherited-thrombocytopenia-caused-by-a-novel-mutation-of-myh9-gene
#12
Wenjun Liao, Xiaocheng Luo, Xue Zhang, Ping Chen, Huayu Wu, Wei Shu, Zhigang Yuan
OBJECTIVE: To study genetic mutations and clinical features of a pedigree affected with MYH9-related disorders from Guangxi. METHODS: Blood platelets were counted with a hemocytometer. Blood smear was carried out to detect the inclusion body in peripheral blood neutrophils. DNA and mRNA samples were extracted from blood samples from the members of the pedigree. Fragments of the MYH9 gene were amplified with PCR and directly sequenced. RESULTS: The affected individuals presented with a triad of giant platelets, decreased platelet count and inclusion bodies in the neutrophils with variable expressivity...
June 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28604951/-analysis-of-foxl2-gene-mutations-in-5-families-affected-with-blepharophimosis-ptosis-and-epicanthus-inversus-syndrome
#13
Xiaowen Yang, Wen Li, Juan Du, Shimin Yuan, Wenbin He, Qianjun Zhang, Changgao Zhong, Guangxiu Lu, Yueqiu Tan
OBJECTIVE: To screen for FOXL2 gene mutations in 6 patients with blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES), and explore their genotype-phenotype correlation. METHODS: Peripheral venous blood samples were collected from the patients for the extraction of genomic DNA. PCR and Sanger sequencing were employed to analyze the coding region and flanking sequences of the FOXL2 gene. Pathogenicity of the identified mutations was verified through literature review and bioinformatic analysis...
June 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28600177/compound-heterozygous-kcnq1-mutations-a300t-p535t-in-a-child-with-sudden-unexplained-death-insights-into-possible-molecular-mechanisms-based-on-protein-modeling
#14
Erika Antúnez-Argüelles, Arturo Rojo-Domínguez, Ana Leticia Arregui-Mena, Leonor Jacobo-Albavera, Manlio Fabio Márquez, Pedro Iturralde-Torres, María Teresa Villarreal-Molina
Sudden death in a child is a devastating event with important medical implications for surviving relatives. Because it may be the first manifestation of unknown inherited cardiac disease, molecular autopsy can be helpful to determine the cause of death and identify at risk family members. The aim of the study was to perform a molecular autopsy in a seven year-old girl with sudden unexplained death, to find evidence supporting the possible pathogenicity of mutations identified in inherited cardiac disease genes, and to clinically and genetically assess first-degree relatives...
June 6, 2017: Gene
https://www.readbyqxmd.com/read/28593475/functional-metagenomics-of-oil-impacted-mangrove-sediments-reveals-high-abundance-of-hydrolases-of-biotechnological-interest
#15
Júlia Ronzella Ottoni, Lucélia Cabral, Sanderson Tarciso Pereira de Sousa, Gileno Vieira Lacerda Júnior, Daniela Ferreira Domingos, Fábio Lino Soares Junior, Mylenne Calciolari Pinheiro da Silva, Joelma Marcon, Armando Cavalcante Franco Dias, Itamar Soares de Melo, Anete Pereira de Souza, Fernando Dini Andreote, Valéria Maia de Oliveira
Mangroves are located in coastal wetlands and are susceptible to the consequences of oil spills, what may threaten the diversity of microorganisms responsible for the nutrient cycling and the consequent ecosystem functioning. Previous reports show that high concentration of oil favors the incidence of epoxide hydrolases and haloalkane dehalogenases in mangroves. This finding has guided the goals of this study in an attempt to broaden the analysis to other hydrolases and thereby verify whether oil contamination interferes with the prevalence of particular hydrolases and their assigned microorganisms...
July 2017: World Journal of Microbiology & Biotechnology
https://www.readbyqxmd.com/read/28591662/a-loop-mediated-isothermal-amplification-lamp-assay-for-the-rapid-detection-of-enterococcus-spp-in-water
#16
Roland Martzy, Claudia Kolm, Kurt Brunner, Robert L Mach, Rudolf Krska, Hana Šinkovec, Regina Sommer, Andreas H Farnleitner, Georg H Reischer
Faecal pollution of water and the resulting potential presence of human enteric pathogens is a predominant threat to public health. Microbiological water quality can be assessed by the detection of standard faecal indicator bacteria (SFIB) such as E. coli or certain Enterococcus species. In recent years, isothermal amplification methods have become a useful alternative to polymerase chain reaction (PCR), allowing molecular diagnostics with simple or no instrumentation. In this study, a novel screening method for the molecular detection of Enterococcus spp...
May 13, 2017: Water Research
https://www.readbyqxmd.com/read/28588366/neurocognitive-effect-of-nootropic-drug-brahmi-bacopa-monnieri-in-alzheimer-s-disease
#17
REVIEW
Kaustubh S Chaudhari, Nishant R Tiwari, Rakesh R Tiwari, Rohan S Sharma
Alzheimer's disease (AD) is a progressive neurodegenerative disease of the elderly. The rapid increase in its incidence has necessitated development of newer drugs. Ayurvedic herbal medications are increasingly researched due to their biosafety profile and usefulness in cognitive impairment. In this article, we critically reviewed one such Medhya Rasayana (nootropic drug) Brahmi-derived from extract of Bacopa monnieri (EBm). Studies have shown that EBm promotes free radical scavenger mechanisms and protects cells in prefrontal cortex, hippocampus, and striatum against cytotoxicity and DNA damage implicated in AD...
May 2017: Annals of Neurosciences
https://www.readbyqxmd.com/read/28587748/liquid-biopsy-of-pik3ca-mutations-in-cervical-cancer-in-hong-kong-chinese-women
#18
Tony K H Chung, Tak Hong Cheung, So Fan Yim, Mei Yun Yu, Rossa W K Chiu, Keith W K Lo, Ida P C Lee, Raymond R Y Wong, Kitty K M Lau, Vivian W Wang, Michael J Worley, Kevin M Elias, Stephen J Fiascone, David I Smith, Ross S Berkowitz, Yick Fu Wong
INTRODUCTION: Cervical cancer is the fourth most common female cancer worldwide. The prognosis for women with advanced-stage or recurrent cervical cancer remains poor and response to treatment is variable. Standardized management protocols leave little room for individualization. We report on a novel blood-based liquid biopsy for specific PIK3CA mutations as a clinically useful biomarker in patients with invasive cervical cancer. METHODS: One hundred seventeen Hong Kong Chinese women with primary invasive cervical cancer and their pre-treatment plasma samples were investigated...
June 3, 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/28578629/chaetomiaceae-fungi-novel-pathogens-of-equine-neurotropic-phaeohyphomycosis
#19
Quinci Plumlee, Courtney Meason-Smith, Alexandra Dieterly, Gabriel Gomez, Brian F Porter, Aline Rodrigues Hoffmann
Many previously unrecognized fungi are emerging as potential pathogens. One such group is dematiaceous fungi of the Chaetomiaceae family (phylum Ascomycota, class Sordariomycetes). These fungi are rare causes of opportunistic, neurotropic phaeohyphomycosis in humans but are not known to cause similar infections in animals. The aims of this study were to investigate equine hyphal mycotic encephalitis, characterize key histopathologic features, and classify causative organisms with molecular diagnostic techniques...
January 1, 2017: Veterinary Pathology
https://www.readbyqxmd.com/read/28577617/novel-zona-pellucida-gene-variants-identified-in-patients-with-oocyte-anomalies
#20
Ping Yang, Xin Luan, Yingqian Peng, Tailai Chen, Shizhen Su, Changming Zhang, Zhao Wang, Lei Cheng, Xin Zhang, Ying Wang, Zi-Jiang Chen, Han Zhao
OBJECTIVE: To detect ZP (zona pellucida) gene (ZP1-ZP4) mutations in patients with oocyte anomalies. DESIGN: Case-control genetic study. SETTING: University-based reproductive medicine center. PATIENT(S): A total of 92 infertile patients with repeated cycles of oocyte maturation arrest (group I, n = 49) or oocyte morphologic defect (group II, n = 43) as well as 373 healthy controls. INTERVENTION(S): Genomic DNA extracted from peripheral blood and coding regions of ZP genes amplified by polymerase chain reaction and sequenced by a DNA analyzer...
June 2017: Fertility and Sterility
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