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https://www.readbyqxmd.com/read/28340408/ongoing-evolution-of-pseudomonas-aeruginosa-pao1-sublines-complicates-studies-of-dna-damage-repair-and-tolerance
#1
Julia Sidorenko, Tatjana Jatsenko, Maia Kivisaar
Sublines of the major P. aeruginosa reference strain PAO1 are derivatives of the original PAO1 isolate, which are maintained in laboratories worldwide. These sublines display substantial genomic and phenotypic variation due to ongoing microevolution. Here, we examined four sublines, MPAO1, PAO1-L, PAO1-DSM and PAO1-UT, originated from different laboratories, and six DNA polymerase-deficient mutants from the P. aeruginosa MPAO1 transposon library for their employment in elucidation of DNA damage repair and tolerance mechanisms in P...
March 16, 2017: Mutation Research
https://www.readbyqxmd.com/read/28340370/validation-of-comet-assay-in-oregon-r-and-wild-type-strains-of-drosophila-melanogaster-exposed-to-a-natural-radioactive-environment-in-brazilian-semiarid-region
#2
Cícero Jorge Verçosa, Aroldo Vieira de Moraes Filho, Ícaro Fillipe de Araújo Castro, Robson Gomes Dos Santos, Kenya Silva Cunha, Daniela de Melo E Silva, Ana Cristina Lauer Garcia, Julio Alejandro Navoni, Viviane Souza do Amaral, Claudia Rohde
Natural radiation of geological origin is a common phenomenon in Brazil, a country where radioactive agents such as uranium may be often found. As an unstable atom, uranium undergoes radioactive decay with the generation of a series of decay by-products, including radon, which may be highly genotoxic and trigger several pathological processes, among which cancer. Because it is a gas, radon may move freely between cracks and gaps in the ground, seeping upwards into the buildings and in the environment. In this study, two Drosophila melanogaster Meigen (Diptera, Drosophilidae) strains called Oregon-R and Wild (collected in a non-radioactive environment) were exposed to atmospheric radiation in the Lajes Pintadas city, in the semiarid zone of northeastern Brazil...
March 21, 2017: Ecotoxicology and Environmental Safety
https://www.readbyqxmd.com/read/28340307/genetic-diversity-analysis-of-asian-clam-corbicula-fluminea-in-the-hongze-lake-based-on-mitochondrial-cytochrome-b-gene
#3
Chuankun Zhu, Jin Li, Songguang Xie, Huaiyu Ding, Zhengjun Pan, Hui Wang, Guoliang Chang
The Asian clam Corbicula fluminea is a small bivalve with high nutritional and medical values. However, natural resources of C. fluminea have declined in many areas of China including the Hongze Lake. In this study, 119 individuals from 10 sites of this lake and 2 outgroups were analyzed using a 456 bp mitochondrial cytochrome b (cytb) gene segment. Totally, 19 polymorphic sites were detected, which defined 16 haplotypes. Polymorphism varied among the 10 populations with those at the water inlet being more polymorphic...
March 24, 2017: Mitochondrial DNA. Part A. DNA Mapping, Sequencing, and Analysis
https://www.readbyqxmd.com/read/28340267/digital-phenotyping-for-quantification-of-genetic-diversity-in-inbred-guava-psidium-guajava-families
#4
W Krause, A P Viana, N R Cavalcante, M Ambrósio, E A Santos, H D Vieira
Digital image analysis of seeds has been used for the identification of cultivars, determination of seed color and mechanical damage, and classification of different seed sizes. The aim of the present study was to evaluate the efficiency of digital image analysis of seeds for the quantification of genetic diversity among genotypes of inbred guava (Psidium guajava L.) families. The SAS Mini equipment, which consists of a capture module and a software program for analysis, was employed for the capture and analysis of the seed images...
March 22, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28340161/organizational-benchmarks-for-test-utilization-performance-an-example-based-on-positivity-rates-for-genetic-tests
#5
Joseph Rudolf, Brian R Jackson, Andrew R Wilson, Kristi J Smock, Robert L Schmidt
Objectives: Health care organizations are under increasing pressure to deliver value by improving test utilization management. Many factors, including organizational factors, could affect utilization performance. Past research has focused on the impact of specific interventions in single organizations. The impact of organizational factors is unknown. The objective of this study is to determine whether testing patterns are subject to organizational effects, ie, are utilization patterns for individual tests correlated within organizations...
March 15, 2017: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28339912/pharmacogenomics-and-patient-treatment-parameters-to-opioid-treatment-in-chronic-pain-a-focus-on-morphine-oxycodone-tramadol-and-fentanyl
#6
Renae A Lloyd, Elizabeth Hotham, Catherine Hall, Marie Williams, Vijayaprakash Suppiah
Objective. : Opioids are one of the most commonly prescribed medicines for chronic pain. However, their use for chronic pain has been controversial. The objective of this literature review was to identify the role of genetic polymorphisms on patient treatment parameters (opioid dose requirements, response, and adverse effects) for opioids used in malignant and nonmalignant chronic pain. The opioids that this review focuses on are codeine, morphine, oxycodone, tramadol, and fentanyl...
February 24, 2017: Pain Medicine: the Official Journal of the American Academy of Pain Medicine
https://www.readbyqxmd.com/read/28339870/discordance-between-functional-screening-and-genetic-confirmatory-diagnostic-tests-a-retrospective-analysis-of-activated-protein-c-resistance-and-factor-5-leiden-testing-over-a-5-year-period
#7
Ezra Baraban, Alexa Siddon, Christopher Tormey
No abstract text is available yet for this article.
March 1, 2017: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28339762/maternal-and-genetic-effects-on-broiler-bone-properties-during-incubation-period
#8
R Yair, A Cahaner, Z Uni, R Shahar
In order to examine the differences in bone properties between fast-growing and slow-growing broiler embryos and to understand the effects of genotype and egg size on these differences, fast- and slow-growing hens and males were reciprocally crossed to create 4 egg groups: FST (laid by fast-growing hens, inseminated by fast-growing males), H-FST (fast-growing hens and slow-growing males), H-SLW (slow-growing hens and fast-growing males), and SLW (slow-growing hens and slow-growing males). Embryos (n = 8) from these 4 groups were sacrificed and weighed, and both tibiae were harvested on embryonic d (E) 17, 19, and 21...
February 23, 2017: Poultry Science
https://www.readbyqxmd.com/read/28339706/differential-proliferation-and-metabolic-activity-of-sertoli-cells-in-the-testes-of-broiler-and-layer-breeder-chickens
#9
Mélanie Faure, Edith Guibert, Sabine Crochet, Pascal Chartrin, Jean-Pierre Brillard, Anne Collin, Pascal Froment
Decades of genetic selection have generated 2 different, highly specialized types of chickens in which 1 type, known as the layer-type chicken, expresses high laying performance while the other type, known as the broiler-type chicken, is dedicated to the production of fast-growing birds. Selected lines for the latter type often express disorders in their reproductive performance including early sexual maturation and accelerated, non-reversible seasonal decline of their semen production and mating behavior. The aim of the present study was to characterize some metabolic markers of the Sertoli cell populations...
February 21, 2017: Poultry Science
https://www.readbyqxmd.com/read/28339689/genomic-decision-support-needs-in-pediatric-primary-care
#10
Jeffrey W Pennington, Dean J Karavite, Edward M Krause, Jeffrey Miller, Barbara A Bernhardt, Robert W Grundmeier
Clinical genome and exome sequencing can diagnose pediatric patients with complex conditions that often require follow-up care with multiple specialties. The American Academy of Pediatrics emphasizes the role of the medical home and the primary care pediatrician in coordinating care for patients who need multidisciplinary support. In addition, the electronic health record (EHR) with embedded clinical decision support is recognized as an important component in providing care in this setting. We interviewed 6 clinicians to assess their experience caring for patients with complex and rare genetic findings and hear their opinions about how the EHR currently supports this role...
February 19, 2017: Journal of the American Medical Informatics Association: JAMIA
https://www.readbyqxmd.com/read/28339683/addressing-beacon-re-identification-attacks-quantification-and-mitigation-of-privacy-risks
#11
Jean Louis Raisaro, Florian Tramèr, Zhanglong Ji, Diyue Bu, Yongan Zhao, Knox Carey, David Lloyd, Heidi Sofia, Dixie Baker, Paul Flicek, Suyash Shringarpure, Carlos Bustamante, Shuang Wang, Xiaoqian Jiang, Lucila Ohno-Machado, Haixu Tang, XiaoFeng Wang, Jean-Pierre Hubaux
The Global Alliance for Genomics and Health (GA4GH) created the Beacon Project as a means of testing the willingness of data holders to share genetic data in the simplest technical context-a query for the presence of a specified nucleotide at a given position within a chromosome. Each participating site (or "beacon") is responsible for assuring that genomic data are exposed through the Beacon service only with the permission of the individual to whom the data pertains and in accordance with the GA4GH policy and standards...
February 20, 2017: Journal of the American Medical Informatics Association: JAMIA
https://www.readbyqxmd.com/read/28339615/viable-offspring-after-imaging-of-ca2-oscillations-and-visualization-of-the-cortical-reaction-in-mouse-eggs%C3%A2
#12
Yuhkoh Satouh, Kaori Nozawa, Kazuo Yamagata, Takao Fujimoto, Masahito Ikawa
During mammalian fertilization, egg Ca 2+ oscillations are known to play pivotal roles in triggering downstream events such as resumption of the cell cycle and the establishment of blocks to polyspermy. However, viable offspring have not been obtained after monitoring Ca 2+ oscillations, and their spatiotemporal links to subsequent events are still to be examined. Therefore, the development of imaging methods to avoid phototoxic damage while labeling these events is required. Here, we examined the usefulness of genetically encoded Ca 2+ indicators for optical imaging (GECOs), in combination with spinning-disk confocal imaging...
February 3, 2017: Biology of Reproduction
https://www.readbyqxmd.com/read/28339605/uniparental-chicken-offsprings-derived-from-oogenesis-of-chicken-primordial-germ-cells-zz-%C3%A2
#13
Chunhai Liu, Il-Kuk Chang, Kamal A Khazanehdari, Shruti Thomas, Preetha Varghese, Vijaya Baskar, Razan Alkhatib, Wenhai Li, Jörg Kinne, Michael J McGrew, Ulrich Wernery
Cloning (somatic cell nuclear transfer) in avian species has proven unachievable due to the physical structure of the avian oocyte. Here, the sexual differentiation of primordial germ cells with genetic sex ZZ (ZZ PGCs) was investigated in female germline chimeric chicken hosts with the aim to produce uniparental offspring. ZZ PGCs were expanded in culture and transplanted into the same and opposite sex chicken embryos which were partially sterilized using irradiation. All tested chimeric roosters (ZZ/ZZ) showed germline transmission with transmission rates of 3...
February 2, 2017: Biology of Reproduction
https://www.readbyqxmd.com/read/28339599/a-single-nucleotide-polymorphism-in-coq9-affects-mitochondrial-and-ovarian-function-and-fertility-in-holstein-cows%C3%A2
#14
M Sofia Ortega, Stephanie Wohlgemuth, Paula Tribulo, Luiz G B Siqueira, Daniel J Null, John B Cole, Marcus V Da Silva, Peter J Hansen
A single missense mutation at position 159 of coenzyme Q9 (COQ9) (G→A; rs109301586) has been associated with genetic variation in fertility in Holstein cattle, with the A allele associated with higher fertility. COQ9 is involved in the synthesis of coenzyme COQ10, a component of the electron transport system of the mitochondria. Here we tested whether reproductive phenotype is associated with the mutation and evaluated functional consequences for cellular oxygen metabolism, body weight changes, and ovarian function...
February 3, 2017: Biology of Reproduction
https://www.readbyqxmd.com/read/28339400/a-systematic-review-of-the-huntington-disease-like-2-phenotype
#15
David G Anderson, Ruth H Walker, Myles Connor, Jonathan Carr, Russell L Margolis, Amanda Krause
BACKGROUND: Huntington Disease-like 2 (HDL2) is a neurodegenerative disorder similar to Huntington Disease (HD) in its clinical phenotype, genetic characteristics, neuropathology and longitudinal progression. Proposed specific differences include an exclusive African ancestry, lack of eye movement abnormalities, increased Parkinsonism, and acanthocytes in HDL2. OBJECTIVE: The objective was to determine the similarities and differences between HD and HDL2 by establishing the clinical phenotype of HDL2 with the published cases...
March 21, 2017: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/28339176/identification-of-likely-associations-between-cerebral-folate-deficiency-and-complex-genetic-and-metabolic-pathogenesis-of-autism-spectrum-disorders-by-utilization-of-a-pilot-interaction-modeling-approach
#16
Daniel Krsička, Jan Geryk, Markéta Vlčková, Markéta Havlovicová, Milan Macek, Radka Pourová
Recently, cerebral folate deficiency (CFD) was suggested to be involved in the pathogenesis of autism spectrum disorders (ASD). However, the exact role of folate metabolism in the pathogenesis of ASD, identification of underlying pathogenic mechanisms and impaired metabolic pathways remain unexplained. The aim of our study was to develop and test a novel, unbiased, bioinformatics approach in order to identify links between ASD and disturbed cerebral metabolism by focusing on abnormal folate metabolism, which could foster patient stratification and novel therapeutic interventions...
March 24, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28339009/identification-of-egflam-spatc1l-and-rnase13-as-novel-susceptibility-loci-for-aortic-aneurysm-in-japanese-individuals-by-exome-wide-association-studies
#17
Yoshiji Yamada, Jun Sakuma, Ichiro Takeuchi, Yoshiki Yasukochi, Kimihiko Kato, Mitsutoshi Oguri, Tetsuo Fujimaki, Hideki Horibe, Masaaki Muramatsu, Motoji Sawabe, Yoshinori Fujiwara, Yu Taniguchi, Shuichi Obuchi, Hisashi Kawai, Shoji Shinkai, Seijiro Mori, Tomio Arai, Masashi Tanaka
We performed an exome-wide association study (EWAS) to identify genetic variants - in particular, low‑frequency or rare variants with a moderate to large effect size - that confer susceptibility to aortic aneurysm with 8,782 Japanese subjects (456 patients with aortic aneurysm, 8,326 control individuals) and with the use of Illumina HumanExome-12 DNA Analysis BeadChip or Infinium Exome-24 BeadChip arrays. The correlation of allele frequencies for 41,432 single nucleotide polymorphisms (SNPs) that passed quality control to aortic aneurysm was examined with Fisher's exact test...
March 21, 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/28338919/genetic-overlap-between-schizophrenia-and-developmental-psychopathology-longitudinal-and-multivariate-polygenic-risk-prediction-of-common-psychiatric-traits-during-development
#18
Michel G Nivard, Suzanne H Gage, Jouke J Hottenga, Catharina E M van Beijsterveldt, Abdel Abdellaoui, Meike Bartels, Bart M L Baselmans, Lannie Ligthart, Beate St Pourcain, Dorret I Boomsma, Marcus R Munafò, Christel M Middeldorp
BACKGROUND: Several nonpsychotic psychiatric disorders in childhood and adolescence can precede the onset of schizophrenia, but the etiology of this relationship remains unclear. We investigated to what extent the association between schizophrenia and psychiatric disorders in childhood is explained by correlated genetic risk factors. METHODS: Polygenic risk scores (PRS), reflecting an individual's genetic risk for schizophrenia, were constructed for 2588 children from the Netherlands Twin Register (NTR) and 6127 from the Avon Longitudinal Study of Parents And Children (ALSPAC)...
March 11, 2017: Schizophrenia Bulletin
https://www.readbyqxmd.com/read/28338798/genetic-dissection-of-metabolite-variation-in-arabidopsis-seeds-evidence-for-mqtl-hotspots-and-a-master-regulatory-locus-of-seed-metabolism
#19
Dominic Knoch, David Riewe, Rhonda Christiane Meyer, Anastassia Boudichevskaia, Renate Schmidt, Thomas Altmann
To gain insight into genetic factors controlling seed metabolic composition and its relationship to major seed properties, an Arabidopsis recombinant inbred line (RIL) population, derived from accessions Col-0 and C24, was studied using an MS-based metabolic profiling approach. Relative intensities of 311 polar primary metabolites were used to identify associated genomic loci and to elucidate their interactions by quantitative trait locus (QTL) mapping. A total of 786 metabolic QTLs (mQTLs) were unequally distributed across the genome, forming several hotspots...
March 6, 2017: Journal of Experimental Botany
https://www.readbyqxmd.com/read/28338774/pleiotropy-robust-mendelian-randomization
#20
Hans van Kippersluis, Cornelius A Rietveld
Background: The potential of Mendelian randomization studies is rapidly expanding due to: (i) the growing power of genome-wide association study (GWAS) meta-analyses to detect genetic variants associated with several exposures; and (ii) the increasing availability of these genetic variants in large-scale surveys. However, without a proper biological understanding of the pleiotropic working of genetic variants, a fundamental assumption of Mendelian randomization (the exclusion restriction) can always be contested...
February 22, 2017: International Journal of Epidemiology
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