keyword
MENU ▼
Read by QxMD icon Read
search

Genetic screening

keyword
https://www.readbyqxmd.com/read/28931104/-molecular-diagnostics-of-alk-positive-lung-cancer
#1
József Tímár, Gábor Lotz, Erzsébet Rásó, Judit Moldvay
ALK translocation is the 3rd most frequent genetic aberration in lung adenocarcinoma, and several inhibitors are now clinically available in first and second line settings. Accordingly, molecular diagnostics of ALK-positive lung cancer is very important and can be done with the rational combination of several methods. All international recommendations suggest that, except for cytological samples, screening technology for ALK-positive tumors is immunohistochemistry using a validated test. It is highly recommended that in case of ALK protein positive samples gene translocation must be confirmed by fluorescent in situ hybridization (FISH)...
September 20, 2017: Magyar Onkologia
https://www.readbyqxmd.com/read/28930984/high-fat-diet-feeding-and-high-throughput-triacylglyceride-assay-in-drosophila-melanogaster
#2
Soda Balla Diop, Ryan T Birse, Rolf Bodmer
Heart disease is the number one cause of human death worldwide. Numerous studies have shown strong connections between obesity and cardiac malfunction in humans, but more tools and research efforts are needed to better elucidate the mechanisms involved. For over a century, the genetically highly tractable model of Drosophila has been instrumental in the discovery of key genes and molecular pathways that proved to be highly conserved across species. Many biological processes and disease mechanisms are functionally conserved in the fly, such as development (e...
September 13, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28930861/targeted-gene-panel-sequencing-for-early-onset-inflammatory-bowel-disease-and-chronic-diarrhea
#3
Britt-Sabina Petersen, Dietrich August, Renate Abt, Moudjahed Alddafari, Lida Atarod, Safa Baris, Hemant Bhavsar, Florian Brinkert, Mary Buchta, Alla Bulashevska, Ronnie Chee, Ana I Cordeiro, Naghi Dara, Gregor Dückers, Aisha Elmarsafy, Natalie Frede, Nermeen Galal, Patrick Gerner, Erik-Oliver Glocker, Sigune Goldacker, Jutta Hammermann, Peter Hasselblatt, Zuzana Havlicekova, Katrin Hübscher, Milos Jesenak, Neslihan E Karaca, Elif Karakoc-Aydiner, Mahboubeh M Kharaghani, Sara S Kilic, Ayca Kiykim, Christoph Klein, Christian Klemann, Robin Kobbe, Daniel Kotlarz, Martin W Laass, T Ronan Leahy, Mehrnaz Mesdaghi, Sally Mitton, João F Neves, Birol Öztürk, Luis F Pereira, Jan Rohr, Jessica L R Restrepo, Gunda Ruzaike, Nadia Saleh, Suranjith Seneviratne, Ebru Senol, Carsten Speckmann, Daniel Tegtmeyer, Paul Thankam, Jutte van der Werff Ten Bosch, Horst von Bernuth, Sebastian Zeissig, Yvonne Zeissig, Andre Franke, Bodo Grimbacher
BACKGROUND: In contrast to adult-onset inflammatory bowel disease (IBD), where many genetic loci have been shown to be involved in complex disease etiology, early-onset IBD (eoIBD) and associated syndromes can sometimes present as monogenic conditions. As a result, the clinical phenotype and ideal disease management in these patients often differ from those in adult-onset IBD. However, due to high costs and the complexity of data analysis, high-throughput screening for genetic causes has not yet become a standard part of the diagnostic work-up of eoIBD patients...
September 19, 2017: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/28930842/type-4b-hereditary-hemochromatosis-associated-with-a-novel-mutation-in-the-slc40a1-gene-a-case-report-and-a-review-of-the-literature
#4
Wei Zhang, Tingxia Lv, Jian Huang, Xiaojuan Ou
RATIONALE: Hereditary hemochromatosis can be divided into HFE- and non-HFE-related based on genetic mutations in different genes. HFE-related hemochromatosis is the most common inherited genetic disease in European populations but rare in Asia-pacific region. Recently, non-HFE-related hemochromatosis has been reported in patients from the Asian countries. PATIENT CONCERNS: We report the case of a 48-year-old Chinese Han woman who presented with abnormal liver function, diabetes mellitus, hyperferritinemia, and high transferrin saturation, with severe iron overload in parenchymal cells, Kupffer cells, and periportal fibrosis on liver biopsy...
September 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28930553/fetal-nucleic-acids-in-maternal-plasma-from-biology-to-clinical-translation
#5
Neha Bunkar, Arpit Bhargava, Koel Chaudhury, Radhey Shyam Sharma, Nirmal Kumar Lohiya, Pradyumna Kumar Mishra
Exposure to environmental contaminants during the critical window of pregnancy results in deregulation of highly coordinated genetic and epigenetic mechanisms involved in prenatal growth. Such disturbances significantly alter the fetal programming, and lead to various developmental disorders immediately, over the lifetime, or transgenerationally. During the process of placental development, fetal nucleic acids enter maternal plasma as a result of necrotic, apoptotic, and inflammatory mechanisms. These nucleic acids reflect normal or abnormal ongoing cellular changes during prenatal fetal development...
January 1, 2018: Frontiers in Bioscience (Landmark Edition)
https://www.readbyqxmd.com/read/28930232/antimicrobial-antioxidant-and-cytotoxic-activities-of-ocimum-forskolei-and-teucrium-yemense-lamiaceae-essential-oils
#6
Nasser A Awadh Ali, Bhuwan K Chhetri, Noura S Dosoky, Khola Shari, Ahmed J A Al-Fahad, Ludger Wessjohann, William N Setzer
Background:Ocimum forskolei and Teucrium yemense (Lamiaceae) are used in traditional medicine in Yemen. Methods: The chemical composition, antimicrobial, antioxidant and cytotoxic activities of the essential oils isolated from the leaves of Ocimum forskolei Benth. (EOOF) and two different populations of Teucrium yemense Deflers., one collected from Dhamar province (EOTY-d), and another collected from Taiz (EOTY-t) were investigated. The antimicrobial activities of the oils were evaluated against several microorganisms with the disc diffusion test or the broth microdilution test...
April 1, 2017: Medicines (Basel, Switzerland)
https://www.readbyqxmd.com/read/28930183/substituting-sodium-hydrosulfite-with-sodium-metabisulfite-improves-long-term-stability-of-a-distributable-paper-based-test-kit-for-point-of-care-screening-for-sickle-cell-anemia
#7
Kian Torabian, Dalia Lezzar, Nathaniel Z Piety, Alex George, Sergey S Shevkoplyas
Sickle cell anemia (SCA) is a genetic blood disorder that is particularly lethal in early childhood. Universal newborn screening programs and subsequent early treatment are known to drastically reduce under-five SCA mortality. However, in resource-limited settings, cost and infrastructure constraints limit the effectiveness of laboratory-based SCA screening programs. To address this limitation our laboratory previously developed a low-cost, equipment-free, point-of-care, paper-based SCA test. Here, we improved the stability and performance of the test by replacing sodium hydrosulfite (HS), a key reducing agent in the hemoglobin solubility buffer which is not stable in aqueous solutions, with sodium metabisulfite (MS)...
September 20, 2017: Biosensors
https://www.readbyqxmd.com/read/28930163/zebrafish-in-translational-cancer-research-insight-into-leukemia-melanoma-glioma-and-endocrine-tumor-biology
#8
REVIEW
Aurora Irene Idilli, Francesca Precazzini, Maria Caterina Mione, Viviana Anelli
Over the past 15 years, zebrafish have emerged as a powerful tool for studying human cancers. Transgenic techniques have been employed to model different types of tumors, including leukemia, melanoma, glioblastoma and endocrine tumors. These models present histopathological and molecular conservation with their human cancer counterparts and have been fundamental for understanding mechanisms of tumor initiation and progression. Moreover, xenotransplantation of human cancer cells in embryos or adult zebrafish offers the advantage of studying the behavior of human cancer cells in a live organism...
September 20, 2017: Genes
https://www.readbyqxmd.com/read/28929945/innovative-pcr-without-dna-extraction-for-african-sickle-cell-disease-diagnosis
#9
L Detemmerman, S Olivier, V Bours, F Boemer
OBJECTIVES: Hemoglobin (Hb) disorders consist of thalassemia and Hb structural variants, of which the major forms are associated with severe anemia and/or vascular occlusion. Current diagnostic techniques are highly accurate and mostly based on isoelectric focusing, high-performance liquid chromatography or mass spectrometry, which often require advanced laboratory equipment. In sub-Saharan Africa, the Hb disorders are mainly associated to the pathological variants hemoglobin S (HbS) and HbC...
September 20, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/28929491/capecitabine-based-treatment-of-a-patient-with-a-novel-dpyd-genotype-and-complete-dihydropyrimidine-dehydrogenase-deficiency
#10
Linda M Henricks, Ester J Siemerink, Hilde Rosing, Judith Meijer, Susan M Goorden, Abeltje M Polstra, Lida Zoetekouw, Annemieke Cats, Jan H Schellens, André B van Kuilenburg
Fluoropyrimidines are frequently used anti-cancer drugs. It is known that patients with reduced activity of dihydropyrimidine dehydrogenase (DPD), the key metabolic enzyme in fluoropyrimidine inactivation, are at increased risk of developing severe fluoropyrimidine-related toxicity. Upfront screening for DPD deficiency and dose reduction in patients with partial DPD deficiency is recommended and improves patient safety. For patients with complete DPD deficiency, fluoropyrimidine-treatment has generally been discouraged...
September 20, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28928993/what-drives-embryo-development-chromosomal-normality-or-mitochondria
#11
A Bayram, I Elkhatib, A Arnanz, A Linan, F Ruiz, B Lawrenz, H M Fatemi
OBJECTIVE: To report the arrest of euploid embryos with high mtDNA content. DESIGN: A report of 2 cases. SETTING: Private fertility clinic. PATIENTS: 2 patients, 45 and 40 years old undergoing IVF treatment. INTERVENTIONS: Mature oocytes were collected and vitrified from two ovarian stimulations. Postthaw, survived mature oocytes underwent fertilization by intracytoplasmic sperm injection (ICSI)...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28928942/a-scoring-system-for-the-evaluation-of-the-mutated-crb1-rd8-derived-retinal-lesions-in-c57bl-6n-mice
#12
Danilo Concas, Heather Cater, Sara Wells
As part of the International Mouse Phenotyping Consortium (IMPC) programme, the MRC Harwell is conducting a large eye morphology phenotyping screen on genetically modified mice compared to the baseline phenotype observed in the background strain of C57BL/6NTac. The C57BL/6NTac strain is known to carry a spontaneous mutation in the Crb1 gene that causes retinal degeneration characterized by the presence of white spots (flecks) in the fundus. These flecks potentially represent a confounding factor, masking similar retinal phenotype abnormalities that may be detected in mutants...
2017: F1000Research
https://www.readbyqxmd.com/read/28928767/genome-wide-epigenetic-characterization-of-tissues-from-three-germ-layers-isolated-from-sheep-fetuses
#13
Emanuele Capra, Paola Toschi, Marcello Del Corvo, Barbara Lazzari, Pier A Scapolo, Pasqualino Loi, John L Williams, Alessandra Stella, Paolo Ajmone-Marsan
DNA methylation of regulatory and growth-related genes contributes to fetal programming which is important for maintaining the correct development of three germ layers of the embryo that develope into different tissues and organs, and which persists into adult life. In this study, a preliminary epigenetic screen was performed to define genomic regions that are involved in fetal epigenome remodeling. Embryonic ectodermic tissues (origin of nervous tissue), mesenchymal tissues (origin of connective and muscular tissues), and foregut endoderm tissues (origin of epithelial tissue), from day 28 sheep fetuses were collected and the distribution of methylated CpGs was analyzed using whole-genome bisulfite sequencing...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/28928729/high-throughput-genetic-screen-reveals-that-early-attachment-and-biofilm-formation-are-necessary-for-full-pyoverdine-production-by-pseudomonas-aeruginosa
#14
Donghoon Kang, Natalia V Kirienko
Pseudomonas aeruginosa is a re-emerging, multidrug-resistant, opportunistic pathogen that threatens the lives of immunocompromised patients, patients with cystic fibrosis, and those in critical care units. One of the most important virulence factors in this pathogen is the siderophore pyoverdine. Pyoverdine serves several critical roles during infection. Due to its extremely high affinity for ferric iron, pyoverdine gives the pathogen a significant advantage over the host in their competition for iron. In addition, pyoverdine can regulate the production of multiple bacterial virulence factors and perturb host mitochondrial homeostasis...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28928454/a-comprehensive-characterization-of-pnca-polymorphisms-that-confer-resistance-to-pyrazinamide
#15
Adam N Yadon, Kashmeel Maharaj, John H Adamson, Yi-Pin Lai, James C Sacchettini, Thomas R Ioerger, Eric J Rubin, Alexander S Pym
Tuberculosis chemotherapy is dependent on the use of the antibiotic pyrazinamide, which is being threatened by emerging drug resistance. Resistance is mediated through mutations in the bacterial gene pncA. Methods for testing pyrazinamide susceptibility are difficult and rarely performed, and this means that the full spectrum of pncA alleles that confer clinical resistance to pyrazinamide is unknown. Here, we performed in vitro saturating mutagenesis of pncA to generate a comprehensive library of PncA polymorphisms resultant from a single-nucleotide polymorphism...
September 19, 2017: Nature Communications
https://www.readbyqxmd.com/read/28928141/a-genetic-screen-for-impaired-systemic-rnai-highlights-the-crucial-role-of-dicer-like-2
#16
Christelle Taochy, Nial R Gursanscky, Jiangling Cao, Stephen J Fletcher, Uwe Dressel, Neena Mitter, Matthew R Tucker, Anna M Koltunow, John L Bowman, Hervé Vaucheret, Bernard J Carroll
Post-transcriptional gene silencing (PTGS) of transgenes involves abundant 21 nt small interfering RNAs (siRNAs) and low abundance 22 nt siRNAs produced from double-stranded RNA (dsRNA) by DCL4 and DCL2, respectively. However, DCL2 facilitates the recruitment of RNA-DEPENDENT RNA POLYMERASE 6 (RDR6) to ARGONAUTE 1 (AGO1)-derived cleavage products, resulting in more efficient amplification of secondary and transitive dsRNA and siRNAs. Here, we describe a reporter system where RDR6-dependent PTGS is initiated by restricted expression of an inverted-repeat dsRNA specifically in the root tip, allowing a genetic screen to identify mutants impaired in RDR6-dependent systemic PTGS...
September 19, 2017: Plant Physiology
https://www.readbyqxmd.com/read/28927989/identification-of-susceptible-genes-for-complex-chronic-diseases-based-on-disease-risk-functional-snps-and-interaction-networks
#17
Wan Li, Lina Zhu, Hao Huang, Yuehan He, Junjie Lv, Weimin Li, Lina Chen, Weiming He
Complex chronic diseases are caused by the effects of genetic and environmental factors. Single nucleotide polymorphisms (SNPs), one common type of genetic variations, played vital roles in diseases. We hypothesized that disease risk functional SNPs in coding regions and protein interaction network modules were more likely to contribute to the identification of disease susceptible genes for complex chronic diseases. This could help to further reveal the pathogenesis of complex chronic diseases. Disease risk SNPs were first recognized from public SNP data for coronary heart disease (CHD), hypertension (HT) and type 2 diabetes (T2D)...
September 16, 2017: Journal of Biomedical Informatics
https://www.readbyqxmd.com/read/28927803/in-cell-production-of-a-genetically-encoded-library-based-on-the-%C3%AE-defensin-rtd-1-using-a-bacterial-expression-system
#18
Tao Bi, Yilong Li, Alexander Shekhtman, Julio A Camarero
We report the high-yield heterologous expression of bioactive θ-defensin RTD-1 inside Escherichia coli cells by making use of intracellular protein trans-splicing in combination with a high efficient split-intein. RTD-1 is a small backbone-cyclized polypeptide with three disulfide bridges and a natural inhibitor of anthrax lethal factor protease. Recombinant RTD-1 was natively folded and able to inhibit anthrax lethal factor protease. In-cell expression of RTD-1 was very efficient and yielded ≈0.7mg of folded RTD-1 per gram of wet E...
September 6, 2017: Bioorganic & Medicinal Chemistry
https://www.readbyqxmd.com/read/28927538/advances-in-ligase-chain-reaction-and-ligation-based-amplifications-for-genotyping-assays-detection-and-applications
#19
REVIEW
Abdullah A Gibriel, Ola Adel
Genetic variants have been reported to cause several genetic diseases. Various genotyping assays have been developed for diagnostic and screening purposes but with certain limitations in sensitivity, specificity, cost effectiveness and/or time savings. Since the discovery of ligase chain reaction (LCR) in the late nineties, it became one of the most favored platforms for detecting these variants and also for genotyping low abundant contaminants. Recent and powerful modifications with the integration of various detection strategies such as electrochemical and magnetic biosensors, nanoparticles (NPs), quantum dots, quartz crystal and leaky surface acoustic surface biosensors, DNAzyme, rolling circle amplification (RCA), strand displacement amplification (SDA), surface enhanced raman scattering (SERS), chemiluminescence and fluorescence resonance energy transfer have been introduced to both LCR and ligation based amplifications to enable high-throughput and inexpensive multiplex genotyping with improved robustness, simplicity, sensitivity and specificity...
July 2017: Mutation Research
https://www.readbyqxmd.com/read/28927530/an-insight-into-the-genotoxicity-assessment-studies-in-dipterans
#20
REVIEW
Nidhi Mishra, Rashmi Srivastava, Uma Rani Agrawal, Raghav Ram Tewari
The dipterans have been widely utilized in genotoxicity assessment studies. Short life span, easy maintenance, production of large number of offspring in a single generation and the tissues with appropriate cell populations make these flies ideal for studies associated to developmental biology, diseases, genetics, genetic toxicology and stress biology in the group. Moreover, their cosmopolitan presence makes them suitable candidate for ecological bio-monitoring. An attempt has been made in the present review to reveal the significance of dipteran flies for assessing alterations in genetic content through various genotoxicity biomarkers and to summarize the gradual advancement in these studies...
July 2017: Mutation Research
keyword
keyword
19662
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"