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https://www.readbyqxmd.com/read/29161498/selective-isolation-of-myosin-subfragment-1-with-a-dna-polyoxovanadate-bioconjugate
#1
Qing Chen, Xue Hu, Dan-Dan Zhang, Xuwei Chen, Jian-Hua Wang
The bioconjugation of a polyoxometalate (POMs), i.e., dodecavanadate (V12O32), to DNA strands produces a functional labeled DNA primer, V12O32-DNA. The grafting of DNA primer onto streptavidin-coated magnetic nanoparticles (SVM) obtains a novel composite, V12O32-DNA@SVM. The high binding-affinity of V12O32 with the ATP binding site in myosin subfragment-1 (S1) facilitates favorable adsorption of myosin, with an efficiency of 99.4% when processing 0.1 mL myosin solution (100 μg/mL) using 0.1 mg composite. Myosin adsorption fits Langmuir model, corresponding to a theoretical adsorption capacity of 613...
November 21, 2017: Bioconjugate Chemistry
https://www.readbyqxmd.com/read/29161291/declust-a-statistical-approach-for-obtaining-differential-expression-profiles-of-multiple-conditions
#2
Yoshimasa Aoto, Tsuyoshi Hachiya, Kazuhiro Okumura, Sumitaka Hase, Kengo Sato, Yuichi Wakabayashi, Yasubumi Sakakibara
High-throughput RNA sequencing technology is widely used to comprehensively detect and quantify cellular gene expression. Thus, numerous analytical methods have been proposed for identifying differentially expressed genes (DEGs) between paired samples such as tumor and control specimens, but few studies have reported methods for analyzing differential expression under multiple conditions. We propose a novel method, DEclust, for differential expression analysis among more than two matched samples from distinct tissues or conditions...
2017: PloS One
https://www.readbyqxmd.com/read/29160033/discordant-fetal-phenotype-of-hypophosphatasia-in-two-siblings
#3
Satoru Ikenoue, Kei Miyakoshi, Tomohiro Ishii, Yu Sato, Toshimitsu Otani, Yohei Akiba, Yoshifumi Kasuga, Daigo Ochiai, Tadashi Matsumoto, Yosuke Ichihashi, Yohei Matsuzaki, Kanako Tachikawa, Toshimi Michigami, Gen Nishimura, Kazushige Ikeda, Tomonobu Hasegawa, Mamoru Tanaka
Hypophosphatasia (HPP) is an autosomal recessive metabolic disorder with impaired bone mineralization due to mutations in the ALPL gene. The genotype-phenotype correlation of this disorder has been widely described. Here, we present two affected siblings, whose fetal phenotypes were discordant. A 31-year-old Japanese woman, G0P0, was referred to our institution because of fetal micromelia. After obstetric counseling, the pregnancy was terminated at 21 weeks' gestation. Post-mortem radiographs demonstrated severely defective mineralization of the skeleton...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29155817/analysis-of-the-interactome-of-schistosoma-mansoni-histone-deacetylase-8
#4
Stéphanie Caby, Lucile Pagliazzo, Julien Lancelot, Jean-Michel Saliou, Nicolas Bertheaume, Raymond J Pierce, Emmanuel Roger
BACKGROUND: Histone deacetylase 8 from Schistosoma mansoni (SmHDAC8) is essential to parasite growth and development within the mammalian host and is under investigation as a target for the development of selective inhibitors as novel schistosomicidal drugs. Although some protein substrates and protein partners of human HDAC8 have been characterized, notably indicating a role in the function of the cohesin complex, nothing is known of the partners and biological function of SmHDAC8. METHODOLOGY/PRINCIPAL FINDINGS: We therefore employed two strategies to characterize the SmHDAC8 interactome...
November 20, 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/29155047/novel-mosaic-variants-in-two-patients-with-cornelia-de-lange-syndrome
#5
Jelena Pozojevic, Ilaria Parenti, Luitgard Graul-Neumann, Sara Ruiz Gil, Erwan Watrin, Kerstin S Wendt, Ralf Werner, Tim M Strom, Gabriele Gillessen-Kaesbach, Frank J Kaiser
Cornelia de Lange syndrome (CdLS) is a dominantly inherited developmental disorder caused by mutations in genes that encode for either structural (SMC1A, SMC3, RAD21) or regulatory (NIPBL, HDAC8) subunits of the cohesin complex. NIPBL represents the major gene of the syndrome and heterozygous mutations can be identified in more than 65% of patients. Interestingly, large portions of these variants were described as somatic mosaicism and often escape standard molecular diagnostics using lymphocyte DNA. Here we discuss the role of somatic mosaicism in CdLS and describe two additional patients with NIPBL mosaicism detected by targeted gene panel or exome sequencing...
November 15, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29153277/a-novel-rogdi-gene-mutation-is-associated-with-kohlschutter-tonz-syndrome
#6
Nalini Aswath, Sankar Narayanan Ramakrishnan, Nithya Teresa, Arvind Ramanathan
OBJECTIVE: Kohlschutter-tonz syndrome (KTS) is a rare neurodegenerative disorder that presents with seizures, developmental regression, characteristic hypoplastic dental enamel indicative of amelogenesis imperfecta and dysmorphologies. Genetic analysis has identified loss-of-function mutations within the coding region of the ROGDI gene in KTS patients of European or Jewish decent. In the present study, we have investigated the genetic status of ROGDI in a fourteen year old South Indian patient of Dravidian race born to consanguineous parents, who was clinically diagnosed with KTS STUDY DESIGN: To confirm the clinical diagnosis of KTS in the patient, primers were designed flanking each of the 11 exons of the ROGDI gene...
October 12, 2017: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
https://www.readbyqxmd.com/read/29152073/molecular-diagnosis-of-citrin-deficiency-in-an-infant-with-intrahepatic-cholestasis-identification-of-a-21-7kb-gross-deletion-that-completely-silences-the-transcriptional-and-translational-expression-of-the-affected-slc25a13-allele
#7
Zhan-Hui Zhang, Wei-Xia Lin, Qi-Qi Zheng, Li Guo, Yuan-Zong Song
Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency (NICCD) arises from biallelic SLC25A13 mutations, and SLC25A13 analysis provides reliable evidences for NICCD definite diagnosis. However, novel large insertions/deletions in this gene could not be detected just by conventional DNA analysis. This study aimed to explore definite diagnostic evidences for an infant highly-suspected to have NICCD. Prevalent mutation screening and Sanger sequencing of SLC25A13 gene just revealed a paternally-inherited mutation c...
October 20, 2017: Oncotarget
https://www.readbyqxmd.com/read/29146476/mutation-screening-of-the-glis3-gene-in-a-cohort-of-592-chinese-patients-with-congenital-hypothyroidism
#8
Chunyun Fu, Shiyu Luo, Xigui Long, Yingfeng Li, Shangyang She, Xuehua Hu, Meizhen Mo, Zhanghong Wang, Yuhua Chen, Chun He, Jiasun Su, Yue Zhang, Fei Lin, Bobo Xie, Qifei Li, Shaoke Chen
OBJECTIVES: Defects in the human GLI-similar 3 (GLIS3) gene are reported to be a rare cause of congenital hypothyroidism (CH) and neonatal diabetes. The aim of this study was to examine the prevalence of GLIS3 mutation among CH patients in the Guangxi Zhuang Autonomous Region of China and to define the relationships between GLIS3 genotypes and clinical phenotypes. METHODS: Blood samples were collected from 592 patients with CH in Guangxi Zhuang Autonomous Region, China, and genomic DNA was extracted from peripheral blood leukocytes...
November 13, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29142434/melastoma-malabathricum-ethyl-acetate-fraction-induces-secondary-necrosis-in-human-breast-and-lung-cancer-cell-lines
#9
Adi Idris, Ihsan N Zulkipli, Nurul Ramizah Zulhilmi, Huan F Lee, Rajan Rajabalaya, Lim Y Chee, Mohamed Majid, Sheba R David
Background: Melastoma malabathricum (MM) is a traditional plant used in the Borneo region. The cytotoxic effects of methanol extracts from MM leaves have been reported in a number of human cancer cell lines. However, the mode of cell death by MM has not been investigated. Objective: We investigated the cytotoxic effects of MM in both human breast and lung cancer cell lines, MCF-7 and A549, respectively, and defined the mode of cell death. Materials and Methods: Cell viability was measured using the 3-(4-, 5-dimethylthiazol-2-yl)-2,5-diphenyl tetrazolium bromide (MTT) assay...
October 2017: Pharmacognosy Magazine
https://www.readbyqxmd.com/read/29142404/chalepin-a-compound-from-ruta-angustifolia-l-pers-exhibits-cell-cycle-arrest-at-s-phase-suppresses-nuclear-factor-kappa-b-nf-%C3%AE%C2%BAb-pathway-signal-transducer-and-activation-of-transcription-3-stat3-phosphorylation-and-extrinsic-apoptotic-pathway-in-non-small-cell
#10
Jaime Stella Moses Richardson, Norhaniza Aminudin, Sri Nurestri Abd Malek
Background: Plants have been a major source of inspiration in developing novel drug compounds in the treatment of various diseases that afflict human beings worldwide. Ruta angustifolia L. Pers known locally as Garuda has been conventionally used for various medicinal purposes such as in the treatment of cancer. Objective: A dihydrofuranocoumarin named chalepin, which was isolated from the chloroform extract of the plant, was tested on its ability to inhibit molecular pathways of human lung carcinoma (A549) cells...
October 2017: Pharmacognosy Magazine
https://www.readbyqxmd.com/read/29136349/clinical-delineation-of-a-subtype-of-frontonasal-dysplasia-with-creased-nasal-ridge-and-upper-limb-anomalies-report-of-six-unrelated-patients
#11
Daphné Lehalle, Umut Altunoglu, Ange-Line Bruel, Eric Arnaud, Patricia Blanchet, Jong-Woo Choi, Julie Désir, Esra Kiliç, Damien Lederer, Lucile Pinson, Christel Thauvin-Robinet, Amihood Singer, Julien Thevenon, Patrick Callier, Hulya Kayserili, Laurence Faivre
Frontonasal dysplasias are rare congenital malformations of frontonasal process-derived structures, characterized by median cleft, nasal anomalies, widely spaced eyes, and cranium bifidum occultum. Several entities of syndromic frontonasal dysplasia have been described, among which, to date, only a few have identified molecular bases. We clinically ascertained a cohort of 124 individuals referred for frontonasal dysplasia. We identified six individuals with a similar phenotype, including one discordant monozygous twin...
December 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29121705/reactive-oxygen-species-depletion-by-silibinin-stimulates-apoptosis-like-death-in-escherichia-coli
#12
Bin Lee, Dong Gun Lee
Silibinin is the major active component of silymarin, extracted from medicinal plant Silybum marianum. Silibinin has potent antibacterial activity; however, the exact mechanism underlying its activity has not been elucidated. Here, we investigated the novel mechanism of silibinin against Escherichia coli. Time-kill kinetic assay showed that silibinin possess a bactericidal effect at minimal inhibitory concentration (MIC) and higher concentrations (two and four-fold MIC). At the membrane depolarization and increased intracellular Ca²⁺ levels were observed, considered as characteristics of bacterial apoptosis...
November 9, 2017: Journal of Microbiology and Biotechnology
https://www.readbyqxmd.com/read/29116264/dynamic-sandwich-type-electrochemical-assay-for-protein-quantification-and-protein-protein-interaction
#13
Chao Li, Yaqin Tao, Yi Yang, Chang Feng, Yang Xiang, Genxi Li
The study of protein-protein interactions (PPIs) plays an important role in the understanding of biological systems; however, the established methods for PPI analysis often involve cumbersome sample preparation, multiple detecting steps, and costly instruments. Here we report a versatile and sensitive electrochemical method based on PPI-induced distinctive migration behavior of DNA deoxyribozyme (DNAzyme) on an electrode surface. In this method, the cleavage activity of DNAzyme toward the substrate DNA modified on the electrode surface is inversely correlated with the hydrodynamic diameter of the macromolecule attached to it...
November 8, 2017: Analyst
https://www.readbyqxmd.com/read/29109010/a-novel-isothermal-amplification-based-method-to-detect-mycobacterium-tuberculosis-complex
#14
Dongxin Liu, Bing Zhao, Xichao Ou, Huiwen Zheng, Aijing Ma, Wencong He, Shengfen Wang, Yang Zhou, Hui Xia, Yang Zheng, Ping Hou, Guangxue He, Yanlin Zhao
Mycobacterium tuberculosis (MTB) is the causative agent of pulmonary tuberculosis. Rapid and accurate diagnosis is crucial to tuberculosis control and prevention. A series of diagnostic methods has been available for MTB detection; however, new rapid, simple and affordable methods are needed. In this study, a multiple cross displacement amplification (MCDA)-based assay was developed to detect the IS6110 gene of the M. tuberculosis complex. Hydroxy naphthol blue (HNB), a colorimetric indicator, was used to detect amplification products...
November 3, 2017: Journal of Microbiological Methods
https://www.readbyqxmd.com/read/29102647/the-transcriptional-landscape-of-radiation-treated-human-prostate-cancer-analysis-of-a-prospective-tissue-cohort
#15
Simon P Keam, Franco Caramia, Cristina Gamell, Piotr J Paul, Gisela Mir Arnau, Paul J Neeson, Scott G Williams, Ygal Haupt
PURPOSE: The resistance of prostate cancer to radiation therapy (RT) is a significant clinical issue and still largely unable to be guided by patient-specific molecular characteristics. The present study describes the gene expression changes induced in response to RT in human prostate tissue obtained from a prospective tissue acquisition study designed for radiobiology research. METHODS AND MATERIALS: A prospective cohort of 5 men with intermediate-risk and clinically localized tumors were treated with high-dose-rate brachytherapy with 2 × 10-Gy fractions...
September 25, 2017: International Journal of Radiation Oncology, Biology, Physics
https://www.readbyqxmd.com/read/29101056/combined-small-cell-carcinoma-of-the-lung-is-it-a-single-entity
#16
Xiaoliang Zhao, Justine N McCutcheon, Bhaskar Kallakury, Joeffrey J Chahine, Drew Pratt, Mark Raffeld, Yulong Chen, Changli Wang, Giuseppe Giaccone
BACKGROUND: Small-cell lung carcinoma (SCLC) accounts for 15-20% of all lung cancers, with combined SCLC (CSCLC) comprising 2-5%. Little is known about the clinical characteristics and molecular changes associated with the various histologic components. METHODS: 205 SCLC cases were resected between 2005-2015. Clinical and pathologic features were analyzed. All CSCLC cases were confirmed by histology and immunohistochemistry. The individual components were microdissected using a novel automated dissection system and DNA was extracted and subjected to targeted exome sequencing...
October 31, 2017: Journal of Thoracic Oncology
https://www.readbyqxmd.com/read/29098023/detection-of-somatic-mutations-in-the-mitochondrial-dna-control-region-d-loop-in-brain-tumors-the-first-report-in-malaysian-patients
#17
Abdul Aziz Mohamed Yusoff, Khairol Naaim Mohd Nasir, Khalilah Haris, Siti Zulaikha Nashwa Mohd Khair, Abdul Rahman Izaini Abdul Ghani, Zamzuri Idris, Jafri Malin Abdullah
Although the role of nuclear-encoded gene alterations has been well documented in brain tumor development, the involvement of the mitochondrial genome in brain tumorigenesis has not yet been fully elucidated and remains controversial. The present study aimed to identify mutations in the mitochondrial DNA (mtDNA) control region D-loop in patients with brain tumors in Malaysia. A mutation analysis was performed in which DNA was extracted from paired tumor tissue and blood samples obtained from 49 patients with brain tumors...
November 2017: Oncology Letters
https://www.readbyqxmd.com/read/29097781/idnaprot-es-identification-of-dna-binding-proteins-using-evolutionary-and-structural-features
#18
Shahana Yasmin Chowdhury, Swakkhar Shatabda, Abdollah Dehzangi
DNA-binding proteins play a very important role in the structural composition of the DNA. In addition, they regulate and effect various cellular processes like transcription, DNA replication, DNA recombination, repair and modification. The experimental methods used to identify DNA-binding proteins are expensive and time consuming and thus attracted researchers from computational field to address the problem. In this paper, we present iDNAProt-ES, a DNA-binding protein prediction method that utilizes both sequence based evolutionary and structure based features of proteins to identify their DNA-binding functionality...
November 2, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29096879/non-invasive-fetal-rhd-genotyping-for-rhd-negative-women-stratified-into-rhd-gene-deletion-or-variant-groups-comparative-accuracy-using-two-blood-collection-tube-types
#19
Catherine A Hyland, Glenda M Millard, Helen O'Brien, Elizna M Schoeman, Genghis H Lopez, Eunike C McGowan, Anne Tremellen, Rachel Puddephatt, Kirsten Gaerty, Robert L Flower, Jonathan A Hyett, Glenn J Gardener
Non-invasive fetal RHD genotyping in Australia to reduce anti-D usage will need to accommodate both prolonged sample transport times and a diverse population demographic harbouring a range of RHD blood group gene variants. We compared RHD genotyping accuracy using two blood sample collection tube types for RhD negative women stratified into deleted RHD gene haplotype and RHD gene variant cohorts. Maternal blood samples were collected into EDTA and cell-free (cf)DNA stabilising (BCT) tubes from two sites, one interstate...
October 30, 2017: Pathology
https://www.readbyqxmd.com/read/29095609/characterization-of-hydrophilic-gold-i-n-heterocyclic-carbene-nhc-complexes-as-potent-trxr-inhibitors-using-biochemical-and-mass-spectrometric-approaches
#20
Özden Karaca, Valeria Scalcon, Samuel M Meier-Menches, Riccardo Bonsignore, Jurriaan M J L Brouwer, Federica Tonolo, Alessandra Folda, Maria Pia Rigobello, Fritz E Kühn, Angela Casini
We report here on the synthesis of a series of mono- and dinuclear gold(I) complexes exhibiting sulfonated bis(NHC) ligands and novel hydroxylated mono(NHC) Au(I) compounds, which were also examined for their biological activities. Initial cell viability assays show strong antiproliferative activities of the hydroxylated mono(NHC) gold compounds (8 > 9 > 10) against 2008 human ovarian cancer cells even after 1 h incubation. In order to gain insight into the mechanism of biological action of the gold compounds, their effect on the pivotal cellular target seleno-enzyme thioredoxin reductase (TrxR), involved in the maintenance of intracellular redox balance, was investigated in depth...
November 2, 2017: Inorganic Chemistry
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