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Genetic screening

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https://www.readbyqxmd.com/read/28346890/high-throughput-system-wide-engineering-and-screening-for-microbial-biotechnology
#1
REVIEW
Yannick Vervoort, Alicia Gutiérrez Linares, Miguel Roncoroni, Chengxun Liu, Jan Steensels, Kevin J Verstrepen
Genetic engineering and screening of large number of cells or populations is a crucial bottleneck in today's systems biology and applied (micro)biology. Instead of using standard methods in bottles, flasks or 96-well plates, scientists are increasingly relying on high-throughput strategies that miniaturize their experiments to the nanoliter and picoliter scale and the single-cell level. In this review, we summarize different high-throughput system-wide genome engineering and screening strategies for microbes...
March 24, 2017: Current Opinion in Biotechnology
https://www.readbyqxmd.com/read/28346690/the-benefits-and-limitations-of-cell-free-dna-screening-for-47-xxy-klinefelter-syndrome
#2
Carole Samango-Sprouse, Colleen Keen, Teresa Sadeghin, Andrea Gropman
OBJECTIVE: The purpose of this paper is to provide an overview of the 47, XXY syndrome, which is the most commonly occurring X and Y chromosomal variation. This paper seeks to review what is currently known of noninvasive prenatal testing (NIPT) and 47, XXY, and investigate potential risks and benefits of prenatal identification. METHOD: A literature review of NIPT and 47, XXY was performed to identify limitations of current NIPT techniques. RESULTS: As NIPT becomes an increasingly more routine procedure, prenatal findings of 47, XXY may increase...
March 27, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28346436/detailed-comparison-of-retroviral-vectors-and-promoter-configurations-for-stable-and-high-transgene-expression-in-human-induced-pluripotent-stem-cells
#3
D Hoffmann, J W Schott, F K Geis, L Lange, F-J Müller, D Lenz, D Zychlinski, D Steinemann, M Morgan, T Moritz, A Schambach
Correction of patient-specific induced pluripotent stem cells (iPSC) upon gene delivery through retroviral vectors offers new treatment perspectives for monogenetic diseases. Gene-modified iPSC clones can be screened for safe integration sites and differentiated into transplantable cells of interest. However, the current bottleneck is epigenetic vector silencing. In order to identify the most suitable retroviral expression system in iPSC, we systematically compared vectors from different retroviral genera, different promoters and their combination with ubiquitous chromatin opening elements (UCOE), and several envelope pseudotypes...
March 27, 2017: Gene Therapy
https://www.readbyqxmd.com/read/28346242/genetic-variation-in-gabr%C3%AE-1-and-the-risk-for-developing-alcohol-dependence
#4
William A McCabe, Michael J Way, Kush Ruparelia, Susanne Knapp, M Adam Ali, Quentin M Anstee, Howard C Thomas, Andrew McQuillin, Marsha Y Morgan
Associations between the γ-aminobutyric acid type-A receptors (GABAA) and alcohol dependence risk have been reported, although the receptor subunit driving the association is unclear. Recent work in mice has highlighted a possible role for variants in the Gabr β1 subunit (Gabrβ1) in alcohol dependence risk, although this gene does not contain any common nonsynonymous variants in humans. However, the GABAA receptor is a heteropentamer so multiple potential variants within the gene complex could generate the alcohol dependence phenotype...
March 24, 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/28346097/an-optimized-3d-coculture-assay-for-preclinical-testing-of-pro-and-antiangiogenic-drugs
#5
Daniela Unterleuthner, Nina Kramer, Karoline Pudelko, Alexandra Burian, Markus Hengstschläger, Helmut Dolznig
Angiogenesis is a promising target for anticancer therapies, but also for treating other diseases with pathologic vessel development. Targeting the vascular endothelial growth factor (VEGF) pathway did not proof as effective as expected due to emerging intrinsic resistance mechanisms, as well as stromal contributions leading to drug insensitivity. Therefore, alternative strategies affecting the interaction of endothelial cells (ECs) with other stromal cells seem to be more promising. Human preclinical in vitro angiogenesis models successfully recapitulating these interactions are rare, and two-dimensional (2D) cell cultures cannot mimic tissue architecture in vivo...
January 1, 2017: SLAS Discov
https://www.readbyqxmd.com/read/28346094/drug-library-screening-for-the-identification-of-ionophores-that-correct-the-mistrafficking-disorder-associated-with-oxalosis-kidney-disease
#6
Shurong Hou, Franck Madoux, Louis Scampavia, Jo Ann Janovick, P Michael Conn, Timothy P Spicer
Primary hyperoxaluria is the underlying cause of oxalosis and is a life-threatening autosomal recessive disease, for which treatment may require dialysis or dual liver-kidney transplantation. The most common primary hyperoxaluria type 1 (PH1) is caused by genetic mutations of a liver-specific enzyme alanine:glyoxylate aminotransferase (AGT), which results in the misrouting of AGT from the peroxisomes to the mitochondria. Pharmacoperones are small molecules with the ability to modify misfolded proteins and route them correctly within the cells, which may present an effective strategy to treat AGT misrouting in PH1 disorders...
January 1, 2017: SLAS Discov
https://www.readbyqxmd.com/read/28346092/screening-for-protein-protein-interaction-inhibitors-using-a-bioluminescence-resonance-energy-transfer-bret-based-assay-in-yeast
#7
Caroline Corbel, Sara Sartini, Elisabetta Levati, Pierre Colas, Laurent Maillet, Cyril Couturier, Barbara Montanini, Stéphane Bach
The bioluminescence resonance energy transfer (BRET) technology is a widely used live cell-based method for monitoring protein-protein interactions as well as conformational changes within proteins or molecular complexes. Considering the emergence of protein-protein interactions as a new promising class of therapeutic targets, we have adapted the BRET method in budding yeast. In this technical note, we describe the advantages of using this simple eukaryotic model rather than mammalian cells to perform high-throughput screening of chemical compound collections: genetic tractability, tolerance to solvent, rapidity, and no need of expensive robotic systems...
January 1, 2017: SLAS Discov
https://www.readbyqxmd.com/read/28345860/an-instant-visual-and-instrument-free-method-for-on-site-screening-of-gts-40-3-2-soybean-based-on-body-heat-triggered-recombinase-polymerase-amplification
#8
Rui Wang, Fang Zhang, Liu Wang, Wenjuan Qian, Cheng Qian, Jian Wu, Yi-Bin Ying
On-site monitoring the plantation of genetically modified (GM) crops is of critical importance in agriculture industry throughout the world. In this paper, a simple, visual and instrument-free method for instant on-site detection of GTS 40-3-2 soybean has been developed. It is based on body-heat recombinase polymerase amplification (RPA) and followed with naked-eye detection via fluorescent DNA dye. Combining with extremely simplified sample preparation, the whole detection process can be accomplished within 10 min and the fluorescent results can be photographed by accompanied smart phone...
March 27, 2017: Analytical Chemistry
https://www.readbyqxmd.com/read/28345451/the-impact-of-advanced-proteomics-in-the-search-for-markers-and-therapeutic-targets-of-bladder-cancer
#9
Hongshuo Zhang, Yue Fan, Lingling Xia, Chunhui Gao, Xin Tong, Hanfu Wang, Lili Sun, Tuo Ji, Mingyu Jin, Bing Gu, Bo Fan
Bladder cancer is the most common cancer of the urinary tract and can be avoided through proper surveillance and monitoring. Several genetic factors are known to contribute to the progression of bladder cancer, many of which produce molecules that serve as cancer biomarkers. Blood, urine, and tissue are commonly analyzed for the presence of biomarkers, which can be derived from either the nucleus or the mitochondria. Recent advances in proteomics have facilitated the high-throughput profiling of data generated from bladder cancer-related proteins or peptides in parallel with high sensitivity and specificity, providing a wealth of information for biomarker discovery and validation...
March 2017: Tumour Biology: the Journal of the International Society for Oncodevelopmental Biology and Medicine
https://www.readbyqxmd.com/read/28345382/identification-of-a-novel-nonsense-mutation-of-the-neurotrophic-tyrosine-kinase-receptor-type-1-gene-in-two-siblings-with-congenital-insensitivity-to-pain-with-anhidrosis
#10
Ting Wang, Haibo Li, Jingjing Xiang, Bin Wei, Qin Zhang, Qin Zhu, Minjuan Liu, Miao Sun, Hong Li
Objective To explore the aetiology of congenital insensitivity to pain with anhidrosis (CIPA) in two Chinese siblings with typical CIPA symptoms including insensitivity to pain, inability to sweat, and self-mutilating behaviours. Methods Clinical examination and genetic testing were conducted of all available family members, and the findings were used to create a pedigree. Mutation screening using PCR amplification and DNA Sanger sequencing of the entire neurotrophic tyrosine kinase receptor type 1 gene ( NTRK1) including intron-exon boundaries was used to identify mutations associated with CIPA...
January 1, 2017: Journal of International Medical Research
https://www.readbyqxmd.com/read/28345177/pharmacogenomics-of-off-target-adrs
#11
REVIEW
Sarah L Garon, Rebecca K Pavlos, Katie D White, Nancy J Brown, Cosby A Stone, Elizabeth J Phillips
Off-target adverse drug reactions (ADRs) are associated with significant morbidity and costs to the healthcare system and their occurrence is not predictable based on the known pharmacological action of the drug's therapeutic effect. Off-target ADRs may or may not be associated with immunological memory although they can manifest with a variety of shared clinical features including maculopapular exanthema, severe cutaneous adverse reactions (SCARs), angioedema, pruritus, and bronchospasm. Discovery of specific genes associated with a particular ADR phenotype is a foundational component of clinical translation into screening programs for their prevention...
March 26, 2017: British Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/28343148/de-novo-mutations-in-cbl-causing-early-onset-paediatric-moyamoya-angiopathy
#12
Stéphanie Guey, Lou Grangeon, Francis Brunelle, Françoise Bergametti, Jeanne Amiel, Stanislas Lyonnet, Audrey Delaforge, Minh Arnould, Béatrice Desnous, Céline Bellesme, Dominique Hervé, Jan C Schwitalla, Markus Kraemer, Elisabeth Tournier-Lasserve, Manoelle Kossorotoff
BACKGROUND: Moyamoya angiopathy (MMA) is characterised by a progressive stenosis of the terminal part of the internal carotid arteries and the development of abnormal collateral deep vessels. Its pathophysiology is unknown. MMA can be the sole manifestation of the disease (moyamoya disease) or be associated with various conditions (moyamoya syndrome) including some Mendelian diseases. We aimed to investigate the genetic basis of moyamoya using a whole exome sequencing (WES) approach conducted in sporadic cases without any overt symptom suggestive of a known Mendelian moyamoya syndrome...
March 25, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28342937/molecular-epidemiology-of-staphylococcus-aureus-nasal-colonization-among-patients-and-their-parents-guardian-in-an-iranian-referral-hospital
#13
Babak Pourakbari, Mahmoud Khodabandeh, Shima Mahmoudi, Farah Sabouni, Alireza Aziz-Ahari, Abbas Bahador, Sepideh Keshavarz Valian, Reihaneh Hosseinpour Sadeghi, Setareh Mamishi
INTRODUCTION: Carriage of Staphylococcus aureus in the nose appears to play a key role in the epidemiology and pathogenesis of infection. It is important to investigate the genetic relatedness of S. aureus and MRSA clones in different geographic regions. The aim of this study was to assess the nasal carriage rate of S. aureus, including MRSA strains in both hospitalized children and general adult population (parents/guardian). In addition, antibiotic susceptibility pattern and molecular diversity of S...
March 22, 2017: Microbial Pathogenesis
https://www.readbyqxmd.com/read/28342852/effects-of-sub-culturing-on-genetic-and-physiological-parameters-in-different-beauveria-bassiana-isolates
#14
Naser Eivazian Kary, Zhila Alizadeh
Beauveria bassiana is a fungus which is widely used as a biological insecticide to control a number of economically important insect pests. Knowledge of the genetic diversity of the isolates, understanding the underlying nature of these evolutionary phenomena and finding appropriate and simple screening tools play an important role in developing effective biocontrol agents. Here, we monitored changes of electrophoretic karyotype of small molecules of extrachromosomal DNAs, presumably mitochondrial DNA or plasmids in several individual isolates of B...
March 22, 2017: Journal of Invertebrate Pathology
https://www.readbyqxmd.com/read/28342662/use-of-brca-mutation-test-in-the-u-s-2004-2014
#15
Fangjian Guo, Jacqueline M Hirth, Yu-Li Lin, Gwyn Richardson, Lyuba Levine, Abbey B Berenson, Yong-Fang Kuo
INTRODUCTION: BRCA mutation testing has been used for screening women at high risk of breast and ovarian cancer and for selecting the best treatment for those with breast cancer. To optimize the infrastructure and medical resources allocation for genetic testing, it is important to understand the use of BRCA mutation testing in the U.S. health system. METHODS: This retrospective cohort study included 53,254 adult women with insurance claims for BRCA mutation testing between 2004 and 2014 from Clinformatics(TM) Data Mart Database...
March 18, 2017: American Journal of Preventive Medicine
https://www.readbyqxmd.com/read/28341739/modifiers-of-prion-protein-biogenesis-and-recycling-identified-by-a-highly-parallel-endocytosis-kinetics-assay
#16
Boris A Ballmer, Rita Moos, Prisca Liberali, Lucas Pelkmans, Simone Hornemann, Adriano Aguzzi
The cellular prion protein, PrP(C), is attached by a glycosylphosphatidylinositol anchor to the outer leaflet of the plasma membrane. Its misfolded isoform PrP(Sc) is the causative agent of prion diseases. Conversion of PrP(C) into PrP(Sc) is thought to take place at the cell surface or in endo-lysosomal organelles. Understanding the intracellular trafficking of PrP(C) may therefore help elucidating the conversion process. Here we describe a time-resolved fluorescence resonance energy transfer (FRET) assay reporting membrane expression and real-time internalization rates of PrP(C) The assay is suitable for high-throughput genetic and pharmaceutical screens for modulators of PrP(C) trafficking...
March 24, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28341653/locomotion-behavior-is-affected-by-the-g%C3%AE-s-pathway-and-the-two-pore-domain-k-channel-twk-7-interacting-in-gabaergic-motor-neurons-in-caenorhabditis-elegans
#17
Dieter-Christian Gottschling, Frank Döring, Kai Lüersen
Adjusting the efficiency of movement in response to environmental cues is an essential integrative characteristic of adaptive locomotion behavior across species. However, the modulatory molecules and the pathways involved are largely unknown. Recently, we demonstrated that in Caenorhabditis elegans, a loss of function of the two-pore-domain potassium (K2P) channel TWK-7 causes a fast, coordinated, persistent forward crawling behavior in which five central aspects of stimulated locomotion -- velocity, direction, wave parameters, duration and straightness -- are affected...
March 24, 2017: Genetics
https://www.readbyqxmd.com/read/28341588/targeted-next-generation-sequencing-of-51-genes-involved-in-primary-electrical-disease
#18
Dorien Proost, Johan Saenen, Geert Vandeweyer, Annelies Rotthier, Maaike Alaerts, Emeline M Van Craenenbroeck, Joachim Van Crombruggen, Geert Mortier, Wim Wuyts, Christiaan Vrints, Jurgen Del Favero, Bart Loeys, Lut Van Laer
Primary electrical disease (PED) is characterized by cardiac arrhythmias, which can lead to sudden cardiac death in the absence of detectable structural heart disease. PED encompasses a diversity of inherited syndromes, predominantly Brugada syndrome, early repolarization syndrome, long QT syndrome, short QT syndrome, arrhythmogenic right ventricular cardiomyopathy, and catecholaminergic polymorphic ventricular tachycardia. To overcome the diagnostic challenges imposed by the clinical and genetic heterogeneity of PED, we developed a targeted gene panel for next-generation sequencing of 51 PED genes...
March 21, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28340953/clinical-features-of-chinese-patients-with-gerstmann-str%C3%A3-ussler-scheinker-identified-by-targeted-next-generation-sequencing
#19
Hong-Fu Li, Zhi-Jun Liu, Hai-Lin Dong, Juan-Juan Xie, Shao-Yun Zhao, Wang Ni, Yi Dong, Zhi-Ying Wu
Gerstmann-Sträussler-Scheinker (GSS) is an autosomal dominant neurodegenerative disease due to mutations within prion protein (PRNP) gene. Clinically, it is not easy to distinguish GSS from spinocerebellar ataxia (SCA), especially in the early stage of disease. We aimed to identify genetic mutations in 8 Chinese pedigrees with dominant ataxia but excluded dynamic mutations of SCA genes. Targeted next-generation sequencing was performed in the 8 probands. A customized panel was designed to capture 24 known causative genes, including 15 autosomal dominant SCA genes and 9 dementia-related genes...
January 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28340804/preliminary-screening-results-of-fabry-disease-in-kidney-transplantation-patients-a-single-center-study
#20
M Yılmaz, S K Uçar, G Aşçı, E Canda, F A Tan, C Hoşcoşkun, M Çoker, H Töz
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by the deficiency of alfa-galactosidase A (AGALA) and leads to progressive impairment of renal function in almost all male patients and in a significant proportion of female patients. FD is underdiagnosed or even misdiagnosed in patients undergoing kidney transplantation. We initiated a selective screening study for FD among kidney transplant patients in our center. In this study, 1095 male and female patients were included. Dried blood samples on Guthrie papers were used to analyze galactosidase A enzyme for male patients...
April 2017: Transplantation Proceedings
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