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https://www.readbyqxmd.com/read/28817827/role-of-next-generation-sequencing-as-a-diagnostic-tool-for-the-evaluation-of-bone-and-soft-tissue-tumors
#1
Kinga Szurian, Karl Kashofer, Bernadette Liegl-Atzwanger
Bone and soft-tissue tumors are in general rare. Diagnosing these tumors is challenging based on the significant number of different tumor entities, the rareness of these tumors, and the considerable morphological heterogeneity which can be found within a single tumor entity. Considering that more than half of the described soft-tissue tumors and approximately 25% of the bone tumors harbor recurrent genetic alterations, the use of auxiliary molecular examinations should be strongly considered. Molecular analyses are important to confirm the diagnosis, to guide treatment, to provide information about prognosis, and to allow patient recruitment for basket trials based on the molecular signature of a tumor...
August 18, 2017: Pathobiology: Journal of Immunopathology, Molecular and Cellular Biology
https://www.readbyqxmd.com/read/28817824/parametric-linkage-analysis-identifies-five-novel-genome-wide-significant-loci-for-familial-lung-cancer
#2
Anthony M Musolf, Claire L Simpson, Mariza de Andrade, Diptasri Mandal, Colette Gaba, Ping Yang, Yafang Li, Ming You, Elena Y Kupert, Marshall W Anderson, Ann G Schwartz, Susan M Pinney, Christopher I Amos, Joan E Bailey-Wilson
OBJECTIVE: One of four American cancer patients dies of lung cancer. Environmental factors such as tobacco smoking are known to affect lung cancer risk. However, there is a genetic factor to lung cancer risk as well. Here, we perform parametric linkage analysis on family-based genotype data in an effort to find genetic loci linked to the disease. METHODS: 197 individuals from families with a high-risk history of lung cancer were recruited and genotyped using an Illumina array...
August 18, 2017: Human Heredity
https://www.readbyqxmd.com/read/28817817/assessment-of-direct-to-consumer-genetic-testing-policy-in-korea-based-on-consumer-preference
#3
Gicheol Jeong
AIMS: In June 2016, Korea permitted direct-to-consumer genetic testing (DTC-GT) on 42 genes. However, both the market and industry have not yet been fully activated. Considering the aforementioned context, this study provides important insights. METHODS: The Korean DTC-GT policy assessment is based on consumer preference analysis using a discrete choice experiment. In August 2016, a web-based survey was conducted to collect data from 1,200 respondents. RESULTS: The estimation results show that consumers prefer a DTC-GT product that is cheap, tests various items or genes, offers accurate test results, and guarantees the confidentiality of all information...
August 18, 2017: Public Health Genomics
https://www.readbyqxmd.com/read/28817788/the-joint-effect-of-the-endothelin-receptor-b-gene-ednrb-polymorphism-rs10507875-and-nitric-oxide-synthase-3-gene-nos3-polymorphism-rs869109213-in-slovenian-patients-with-type-2-diabetes-mellitus-and-diabetic-retinopathy
#4
Dejan Bregar, Ines Cilenšek, Sara Mankoč, Ana Reschner, Danijel Petrovič, Mojca Globočnik Petrovič
Increasing evidence suggests that endothelin and nitric oxide synthase genes and their products exert biological effects on the vasculature via the nitric oxide or endothelin pathway. The aim of the study was to evaluate the association of rs10507875 and rs869109213 (alone or in interaction) with diabetic retinopathy (DR) in subjects with type 2 diabetes mellitus (T2DM). We genotyped the single nucleotide polymorphism rs10507875 of the endothelin receptor B gene (EDNRB) and variable number tandem repeats rs869109213 of the nitric oxide synthase 3 gene (NOS3) in 270 Slovenian patients with DR and T2DM and 256 controls with T2DM without clinical signs of DR...
August 17, 2017: Bosnian Journal of Basic Medical Sciences
https://www.readbyqxmd.com/read/28817651/comparative-genetic-analysis-of-the-45s-rdna-intergenic-spacers-from-three-saccharum-species
#5
Yongji Huang, Fan Yu, Xueting Li, Ling Luo, Jiayun Wu, Yongqing Yang, Zuhu Deng, Rukai Chen, Muqing Zhang
The 45S ribosomal DNA (rDNA) units are separated by an intergenic spacer (IGS) containing the signals for transcription and processing of rRNAs. For the first time, we sequenced and analyzed the entire IGS region from three original species within the genus Saccharum, including S. spontaneum, S. robustum, and S. officinarum in this study. We have compared the IGS organization within three original species of the genus Saccharum. The IGS of these three original species showed similar overall organizations comprised of putative functional elements needed for rRNA gene activity as well as a non-transcribed spacer (NTS), a promoter region, and an external transcribed spacer (ETS)...
2017: PloS One
https://www.readbyqxmd.com/read/28817646/genetic-dissection-of-endothelial-transcriptional-activity-of-zebrafish-aryl-hydrocarbon-receptors-ahrs
#6
Wade W Sugden, Roberto C Leonardo-Mendonça, Darío Acuña-Castroviejo, Arndt F Siekmann
The aryl hydrocarbon receptor (AHR) is a basic helix-loop-helix transcription factor conserved across phyla from flies to humans. Activated by a number of endogenous ligands and environmental toxins, studies on AHR function and gene regulation have largely focused on a toxicological perspective relating to aromatic hydrocarbons generated by human activities and the often-deleterious effects of exposure on vertebrates mediated by AHR activation. A growing body of work has highlighted the importance of AHR in physiologic processes, including immune cell differentiation and vascular patterning...
2017: PloS One
https://www.readbyqxmd.com/read/28817637/genetic-diversity-of-the-o-antigens-of-proteus-species-and-the-development-of-a-suspension-array-for-molecular-serotyping
#7
Xiang Yu, Agnieszka Torzewska, Xinjie Zhang, Zhiqiu Yin, Dominika Drzewiecka, Hengchun Cao, Bin Liu, Yuriy A Knirel, Antoni Rozalski, Lei Wang
Proteus species are well-known opportunistic pathogens frequently associated with skin wound and urinary tract infections in humans and animals. O antigen diversity is important for bacteria to adapt to different hosts and environments, and has been used to identify serotypes of Proteus isolates. At present, 80 Proteus O-serotypes have been reported. Although the O antigen structures of most Proteus serotypes have been identified, the genetic features of these O antigens have not been well characterized. The O antigen gene clusters of Proteus species are located between the cpxA and secB genes...
2017: PloS One
https://www.readbyqxmd.com/read/28817461/risk-factors-and-outcomes-of-thalidomide-induced-peripheral-neuropathy-in-a-pediatric-inflammatory-bowel-disease-cohort
#8
Matteo Bramuzzo, Gabriele Stocco, Marcella Montico, Serena Arrigo, Angela Calvi, Paola Lanteri, Stefano Costa, Salvatore Pellegrino, Giuseppe Magazzù, Jacopo Barp, Silvia Ghione, Paolo Lionetti, Giovanna Zuin, Massimo Fontana, Teresa Di Chio, Giuseppe Maggiore, Marzia Lazzerini, Marianna Lucafò, Chiara Udina, Maria Chiara Pellegrin, Andrea Chicco, Marco Carrozzi, Giuliana Decorti, Alessandro Ventura, Stefano Martelossi
BACKGROUND: Thalidomide is an effective therapy in children with inflammatory bowel disease refractory to standard treatments, but thalidomide-induced peripheral neuropathy (TiPN) limits its long-term use. We aimed to investigate the risk factors and the outcome of TiPN in children with inflammatory bowel disease. METHODS: Within a retrospective multicenter cohort study, we evaluated prevalence and evolution of TiPN. Clinical data and candidate genetic profiles of patients with and without TiPN were compared with detect predisposing factors...
August 16, 2017: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/28817438/alternatively-activated-macrophages-drive-browning-of-white-adipose-tissue-in-burns
#9
Abdikarim Abdullahi, Christopher Auger, Mile Stanojcic, David Patsouris, Alexandra Parousis, Slava Epelman, Marc G Jeschke
OBJECTIVE: The aim of this study was to uncover the mediators and mechanistic events that facilitate the browning of white adipose tissue (WAT) in response to burns. BACKGROUND: In hypermetabolic patients (eg, burns, cancer), the browning of WAT has presented substantial clinical challenges related to cachexia, atherosclerosis, and poor clinical outcomes. Browning of the adipose tissue has recently been found to induce and sustain hypermetabolism. Although browning appears central in trauma-, burn-, or cancer-induced hypermetabolic catabolism, the mediators are essentially unknown...
August 16, 2017: Annals of Surgery
https://www.readbyqxmd.com/read/28817404/primary-renal-sarcomas-with-bcor-ccnb3-gene-fusion-a-report-of-2-cases-showing-histologic-overlap-with-clear-cell-sarcoma-of-kidney-suggesting-further-link-between-bcor-related-sarcomas-of-the-kidney-and-soft-tissues
#10
Pedram Argani, Yu-Chien Kao, Lei Zhang, Carlos Bacchi, Andres Matoso, Rita Alaggio, Jonathan I Epstein, Cristina R Antonescu
We report 2 primary renal sarcomas demonstrating BCOR-CCNB3 gene fusions that have recently been identified in undifferentiated round cell sarcomas of bone and soft tissue. These neoplasms occurred in male children aged 11 and 12 years, and both were cystic as a result of entrapment and dilatation of native renal tubules. Both cases were composed of variably cellular bland spindle cells with fine chromatin set in myxoid stroma and separated by a branching capillary vasculature. Both neoplasms demonstrated immunoreactivity for BCOR, cyclin D1, TLE1, and SATB2 in the spindle neoplastic cells and negativity in the prominent capillary vasculature...
August 16, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28817344/a-guide-to-approaching-regulatory-considerations-for-lentiviral-mediated-gene-therapies
#11
Michael White, Roger Whittaker, Carolina Gándara, Elizabeth A Stoll
Lentiviral vectors are increasingly the gene transfer tool of choice for gene or cell therapies, with multiple clinical investigations showing promise for this viral vector in terms of both safety and efficacy. The third-generation vector system is well characterized, effectively delivers genetic material and maintains long-term stable expression in target cells, delivers larger amounts of genetic material than other methods, is nonpathogenic, and does not cause an inflammatory response in the recipient. This report aims to help academic scientists and regulatory managers negotiate the governance framework to achieve successful translation of a lentiviral vector-based gene therapy...
August 2017: Human Gene Therapy Methods
https://www.readbyqxmd.com/read/28817244/key-developments-that-impacted-the-field-of-mechanobiology-and-mechanotransduction
#12
Michelle Wall, David Butler, Alicia El Haj, Josephine C Bodle, Elizabeth G Loboa, Albert J Banes
Advances in mechanobiology have evolved through insights from multiple disciplines including structural engineering, biomechanics, vascular biology, and orthopaedics. In this paper, we reviewed the impact of key reports related to the study of applied loads on tissues and cells and the resulting signal transduction pathways. We addressed how technology has helped advance the burgeoning field of mechanobiology (over 33,600 publications from 1970-2016). We analyzed the impact of critical ideas and then determined how these concepts influenced the mechanobiology field by looking at the citation frequency of these reports as well as tracking how the overall number of citations within the field changed over time...
August 17, 2017: Journal of Orthopaedic Research: Official Publication of the Orthopaedic Research Society
https://www.readbyqxmd.com/read/28817215/unexpected-collective-larval-dispersal-but-little-support-for-sweepstakes-reproductive-success-in-the-highly-dispersive-brooding-mollusk-crepidula-fornicata
#13
Florentine Riquet, Thierry Comtet, Thomas Broquet, Frédérique Viard
In many marine invertebrates, long-distance dispersal is achieved during an extended pelagic larval phase. Although such dispersal should result in high gene flow over broad spatial scales, fine-scale genetic structure has often been reported, a pattern attributed to interfamilial variance in reproductive success and limited homogenization during dispersal. To examine this hypothesis, the genetic diversity of dispersing larvae must be compared with the post-dispersal stages, i.e. benthic recruits and adults...
August 17, 2017: Molecular Ecology
https://www.readbyqxmd.com/read/28817186/a-prognostic-11genes-expression-model-for-ovarian-cancer
#14
Chuan-Di Men, Qiong-Na Liu, Qing Ren
The symptoms of ovarian cancer at early stages are usually absent which makes the diagnosis in its early stages exceedingly difficult. Previous research has proven that ovarian cancer is a genetic disease, which depends on the alteration of multi-cancer related genes and anti-cancer genes, multi-stages and multi-pathways, involving a variety of oncogene activation and anti-oncogene inactivation. For a better understanding of the prognostic classification of ovarian cancer, gene expression profiles were used to analyse the prognostic factors of ovarian cancer, and the prognostic model was used to classify the ovarian cancer samples...
August 17, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28817112/monoallelic-and-biallelic-creb3l1-variant-causes-mild-and-severe-osteogenesis-imperfecta-respectively
#15
Rachel B Keller, Thao T Tran, Shawna M Pyott, Melanie G Pepin, Ravi Savarirayan, George McGillivray, Deborah A Nickerson, Michael J Bamshad, Peter H Byers
PurposeOsteogenesis imperfecta (OI) is a heritable skeletal dysplasia. Dominant pathogenic variants in COL1A1 and COL1A2 explain the majority of OI cases. At least 15 additional genes have been identified, but those still do not account for all OI phenotypes that present. We sought the genetic cause of mild and lethal OI phenotypes in an unsolved family.MethodsWe performed exome sequencing on seven members of the family, both affected and unaffected.ResultsWe identified a variant in cyclic AMP responsive element binding protein 3-like 1 (CREB3L1) in a consanguineous family...
August 17, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28817092/biochemical-and-comparative-transcriptomic-analyses-identify-candidate-genes-related-to-variegation-formation-in-paeonia-rockii
#16
Qianqian Shi, Long Li, Xiaoxiao Zhang, Jianrang Luo, Xiang Li, Lijuan Zhai, Lixia He, Yanlong Zhang
Paeonia rockii is a wild tree peony species with large and dark purple variegations at the base of its petals. It is the genetic resource for various variegation patterns in tree peony cultivars, which is in contrast to the pure white petals of Paeonia ostii. However, the molecular mechanism underlying the formation of variegation in this plant is still unknown. Here, we conducted Illumina transcriptome sequencing for P. rockii, P. ostii (with pure white petals) and their F1 individuals (with purple-red variegation)...
August 17, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/28817075/discrimination-of-transgenic-maize-kernel-using-nir-hyperspectral-imaging-and-multivariate-data-analysis
#17
Xuping Feng, Yiying Zhao, Chu Zhang, Peng Cheng, Yong He
There are possible environmental risks related to gene flow from genetically engineered organisms. It is important to find accurate, fast, and inexpensive methods to detect and monitor the presence of genetically modified (GM) organisms in crops and derived crop products. In the present study, GM maize kernels containing both cry1Ab/cry2Aj-G10evo proteins and their non-GM parents were examined by using hyperspectral imaging in the near-infrared (NIR) range (874.41-1733.91 nm) combined with chemometric data analysis...
August 17, 2017: Sensors
https://www.readbyqxmd.com/read/28816949/whole-exome-sequencing-identifies-a-kcnj12-mutation-as-a-cause-of-familial-dilated-cardiomyopathy
#18
Hai-Xin Yuan, Kai Yan, Dong-Yan Hou, Zhi-Yong Zhang, Hua Wang, Xin Wang, Juan Zhang, Xiao-Rong Xu, Yan-Hong Liang, Wen-Shu Zhao, Lin Xu, Lin Zhang
Dilated cardiomyopathy (DCM) is characterized by left ventricular dilation, and is associated with systolic dysfunction and increased action potential duration. Approximately 50% of DCM cases are caused by inherited gene mutations with genetic and phenotypic heterogeneity. Next generation sequencing may be useful in screening unknown mutations in such cases.A family was identified with DCM, in which the affected family members developed heart failure, arrhythmia, and sudden death. Probands and 4 affected family members underwent whole exome sequencing (WES), bioinformatics methods, and gene annotation to identify potentially causative variants...
August 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28816640/exosomal-microrna-communication-between-tissues-during-organogenesis
#19
Toru Hayashi, Matthew P Hoffman
Epithelial-mesenchymal interactions are required to coordinate cell proliferation, patterning, and functional differentiation of multiple cell types in a developing organ. This exquisite coordination is dependent on various secreted molecules that provide developmental signals to mediate these tissue interactions. Recently, it was reported that mature mesenchymal-derived microRNAs (miRNAs) in the fetal mouse salivary gland are loaded into exosomes, and transported to the epithelium where they influence progenitor cell proliferation...
August 17, 2017: RNA Biology
https://www.readbyqxmd.com/read/28816609/evidence-of-diversity-site-and-host-specificity-of-sea-turtle-blood-flukes-digenea-schistosomatoidea-spirorchiidae-a-molecular-prospecting-study
#20
Brian A Stacy, Phoebe A Chapman, Allen M Foley, Ellis C Greiner, Lawrence H Herbst, Alan B Bolten, Paul A Klein, Charles A Manire, Elliott R Jacobson
Neospirorchis (Digenea: "Spirorchiidae") are blood flukes of sea turtles. Trematodes tentatively identified as Neospirorchis sp. infect various sites within sea turtles inhabiting waters of the southeastern United States, but efforts to obtain specimens adequate for morphologic study has proven difficult. Two genetic targets, the internal transcribed spacer region of the ribosomal RNA gene and the partial mitochrondrial cytochrome c oxidase subunit I gene, were used to investigate potential diversity among parasite specimens collected from stranded sea turtles...
August 17, 2017: Journal of Parasitology
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