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https://www.readbyqxmd.com/read/29151244/identification-of-rare-noncoding-sequence-variants-in-gamma-aminobutyric-acid-a-receptor-alpha-4-subunit-in-autism-spectrum-disorder
#1
Anthony J Griswold, Derek Van Booven, Michael L Cuccaro, Jonathan L Haines, John R Gilbert, Margaret A Pericak-Vance
Alterations of the gamma-aminobutyric acid (GABA) signaling system has been strongly linked to the pathophysiology of autism spectrum disorder (ASD). Genetic associations of common variants in GABA receptor subunits, in particular GABRA4 on chromosome 4p12, with ASD have been replicated by several studies. Moreover, molecular investigations have identified altered transcriptional and translational levels of this gene and protein in brains of ASD individuals. Since the genotyped common variants are likely not the functional variants contributing to the molecular consequences or underlying ASD phenotype, this study aims to examine rare sequence variants in GABRA4, including those outside the protein coding regions of the gene...
November 18, 2017: Neurogenetics
https://www.readbyqxmd.com/read/29151181/screening-hcv-genotype-specific-epitope-peptides-based-on-conserved-sequence-analysis-and-b-cell-epitope-prediction-in-hcv-e2-region
#2
Rui Hua, Xiaoyu Jiang, Lingxia Qi, Shanshan Guan, Ziyu Kuai, Yongbo Qiao, Yan Xu, Xin Gong, Yuhua Shi, Wei Kong, Junqi Niu, Hao Zhang, Yaming Shan
The high mutation rate of the hepatitis C virus (HCV) genome increases the genotype diversity and renders the detection of the virus more difficult. Therefore, prediction and assessment of highly conserved and strongly antigenic epitope polypeptide sequences have become a focus of current research. The E2 region is the target binding region of neutralizing antibodies. HCV genomics, especially the high mutation rate of E2 region sequence, makes its genotyping more and more diverse, and the detection of HCV and genotype is becoming more and more strict...
November 18, 2017: Immunologic Research
https://www.readbyqxmd.com/read/29151156/deep-rnaseq-indicates-protective-mechanisms-of-cold-tolerant-indica-rice-plants-during-early-vegetative-stage
#3
Raul Antonio Sperotto, Artur Teixeira de Araújo Junior, Janete Mariza Adamski, Denise Cargnelutti, Felipe Klein Ricachenevsky, Ben-Hur Neves de Oliveira, Renata Pereira da Cruz, Rinaldo Pires Dos Santos, Leila Picolli da Silva, Janette Palma Fett
Cold-tolerance in rice may be related to increased cellulose deposition in the cell wall, membrane fatty acids unsaturation and differential expression of several newly identified genes. Low temperature exposure during early vegetative stages limits rice plant's growth and development. Most genes previously related to cold tolerance in rice are from the japonica subspecies. To help clarify the mechanisms that regulate cold tolerance in young indica rice plants, comparative transcriptome analysis of 6 h cold-treated (10 °C) leaves from two genotypes, cold-tolerant (CT) and cold-sensitive (CS), was performed...
November 18, 2017: Plant Cell Reports
https://www.readbyqxmd.com/read/29151152/a-maize-inbred-exhibits-resistance-against-western-corn-rootwoorm-diabrotica-virgifera-virgifera
#4
Lina Castano-Duque, Kenneth W Loades, John F Tooker, Kathleen M Brown, W Paul Williams, Dawn S Luthe
Insect resistance against root herbivores like the western corn rootworm (WCR, Diabrotica virgifera virgifera) is not well understood in non-transgenic maize. We studied the responses of two American maize inbreds, Mp708 and Tx601, to WCR infestation using biomechanical, molecular, biochemical analyses, and laser ablation tomography. Previous studies performed on several inbreds indicated that these two maize genotypes differed in resistance to pests including fall armyworm (Spodoptera frugiperda) and WCR. Our data confirmed that Mp708 shows resistance against WCR, and demonstrates that the resistance mechanism is based in a multi-trait phenotype that includes increased resistance to cutting in nodal roots, stable root growth during insect infestation, constitutive and induced expression of known herbivore-defense genes, including ribosomal inhibitor protein 2 (rip2), terpene synthase 23 (tps23) and maize insect resistance cysteine protease-1 (mir1), as well high constitutive levels of jasmonic acid and production of (E)-β-caryophyllene...
November 18, 2017: Journal of Chemical Ecology
https://www.readbyqxmd.com/read/29151146/mapping-and-confirmation-of-loci-for-salt-tolerance-in-a-novel-soybean-germplasm-fiskeby-iii
#5
Tuyen D Do, Tri D Vuong, David Dunn, Scotty Smothers, Gunvant Patil, Dennis C Yungbluth, Pengyin Chen, Andrew Scaboo, Dong Xu, Thomas E Carter, Henry T Nguyen, J Grover Shannon
The confirmation of a major locus associated with salt tolerance and mapping of a new locus, which could be beneficial for improving salt tolerance in soybean. Breeding soybean for tolerance to high salt conditions is important in some regions of the USA and world. Soybean cultivar Fiskeby III (PI 438471) in maturity group 000 has been reported to be highly tolerant to multiple abiotic stress conditions, including salinity. In this study, a mapping population of 132 F2 families derived from a cross of cultivar Williams 82 (PI 518671, moderately salt sensitive) and Fiskeby III (salt tolerant) was analyzed to map salt tolerance genes...
November 18, 2017: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
https://www.readbyqxmd.com/read/29151129/one-novel-and-two-uncommon-mefv-mutations-in-japanese-patients-with-familial-mediterranean-fever-a-clinicogenetic-study
#6
Dai Kishida, Masahide Yazaki, Akinori Nakamura, Fumio Nomura, Takeshi Kondo, Takanori Uehara, Masatomi Ikusaka, Akira Ohya, Norihiko Watanabe, Ryuta Endo, Satoshi Kawaai, Yasuhiro Shimojima, Yoshiki Sekijima
Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by mutations in the MEFV gene and characterized by recurrent episodes of fever and polyserositis. To date, over 317 MEFV mutations have been reported, only nine of which account for almost all Japanese patients with FMF. Therefore, the prevalence of rare MEFV variants and their clinical characteristics remains unclear. This study identified MEFV mutations previously unreported in the Japanese population and described their clinical features...
November 18, 2017: Rheumatology International
https://www.readbyqxmd.com/read/29151102/the-effect-of-genistein-supplementation-on-vitamin-d-levels-and-bone-turnover-markers-during-the-summer-in-healthy-postmenopausal-women-role-of-genotypes-of-isoflavone-metabolism
#7
María Pérez-Alonso, Laisa-Socorro Briongos, Marta Ruiz-Mambrilla, Eladio A Velasco, Lidia Linares, Luis Cuellar, José-Manuel Olmos, Daniel De Luis, Antonio Dueñas-Laita, José-Luis Pérez-Castrillón
AIMS: The objective of this study was to determine whether vitamin D and genistein supplementation had an additive beneficial effect on levels of vitamin D and bone markers and whether this effect was mediated by genes regulating isoflavone metabolism. MATERIALS AND METHODS: We carried out a prospective study in postmenopausal women randomized to calcium and vitamin D supplementation or calcium, vitamin D, and genistein supplementation. Vitamin D, parathyroid hormone (PTH), cross-linked C-telopeptide (CTX), and procollagen 1 N-terminal (P1NP) were determined by electrochemiluminescence...
November 18, 2017: Journal of Nutrigenetics and Nutrigenomics
https://www.readbyqxmd.com/read/29150962/genotype-and-diet-affect-resistance-survival-and-fecundity-but-not-fecundity-tolerance
#8
Megan A M Kutzer, Joachim Kurtz, Sophie A O Armitage
Insects are exposed to a variety of potential pathogens in their environment, many of which can severely impact fitness and health. Consequently, hosts have evolved resistance and tolerance strategies to suppress or cope with infections. Hosts utilising resistance improve fitness by clearing or reducing pathogen loads and hosts utilising tolerance reduce harmful fitness effects per pathogen load. To understand variation in, and selective pressures on resistance and tolerance we asked to what degree they are shaped by host genetic background, whether plasticity in these responses depends upon dietary environment, and whether there are interactions between these two factors...
November 18, 2017: Journal of Evolutionary Biology
https://www.readbyqxmd.com/read/29150937/cgmp-production-and-analysis-of-bg505-sosip-664-an-extensively-glycosylated-trimeric-hiv-1-envelope-glycoprotein-vaccine-candidate
#9
Antu K Dey, Albert Cupo, Gabriel Ozorowski, Vaneet K Sharma, Anna-Janina Behrens, Eden P Go, Thomas J Ketas, Anila Yasmeen, Per J Klasse, Eddy Sayeed, Heather Desaire, Max Crispin, Ian A Wilson, Rogier W Sanders, Thomas Hassell, Andrew Ward, John P Moore
We describe the properties of BG505 SOSIP.664 HIV-1 envelope glycoprotein trimers produced under current Good Manufacturing Practice (cGMP) conditions. These proteins are the first of a new generation of native-like trimers that are the basis for many structure-guided immunogen development programs aimed at devising how to induce broadly neutralizing antibodies (bNAbs) to HIV-1 by vaccination. The successful translation of this prototype demonstrates the feasibility of producing similar immunogens on an appropriate scale and of an acceptable quality for Phase I experimental medicine clinical trials...
November 18, 2017: Biotechnology and Bioengineering
https://www.readbyqxmd.com/read/29150903/phylogenetic-and-genetic-variation-analyses-of-porcine-circovirus-type-2-isolated-from-china
#10
S Yang, S Yin, Y Shang, B Liu, L Yuan, M U Zafar Khan, X Liu, J Cai
Porcine circovirus type 2 (PCV2) is a causative agent of PCV2-associated disease, which is a growing problem in the swine industry worldwide. High nucleotide substitution occurs in the capsid (Cap) gene of PCV2, which allows the continuous evolution and the emergence of novel PCV2 strains. In this study, we sequenced 24 Chinese PCV2 strains collected from healthy and diseased pigs between 2013 and 2015. Analyses of the genome, Cap and phylogeny classified the 24 Chinese PCV2 strains as PCV-2a (four of 24), PCV-2b (five of 24) and PCV-2d (15 of 24)...
November 17, 2017: Transboundary and Emerging Diseases
https://www.readbyqxmd.com/read/29150898/a-model-to-characterize-psychopathological-features-in-adults-with-prader-willi-syndrome
#11
Denise Thuilleaux, Virginie Laurier, Pierre Copet, Julie Tricot, Geneviève Demeer, Fabien Mourre, Maithé Tauber, Joseba Jauregi
High prevalence of behavioral and psychiatric disorders in adults with Prader-Willi Syndrome (PWS) has been reported in last few years. However, data are confusing and often contradictory. In this article, we propose a model to achieve a better understanding of the psychopathological features in adults with PWS. The study is based on clinical observations of 150 adult inpatients, males and females. Non-parametric statistics were performed to analyse the association of psychopathological profiles with genotype, gender and age...
November 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29150892/expanding-the-neurodevelopmental-phenotype-of-pura-syndrome
#12
Bo Hoon Lee, Margot R F Reijnders, Oluwatobi Abubakare, Emily Tuttle, Brynn Lape, Kelly Q Minks, Christopher Stodgell, Loisa Bennetto, Jennifer Kwon, Chin-To Fong, Karen W Gripp, Eric D Marsh, Wendy E Smith, Ahm M Huq, Stephanie A Coury, Wen-Hann Tan, Orestes Solis, Rupal I Mehta, Richard J Leventer, Diana Baralle, David Hunt, Alex R Paciorkowski
PURA syndrome is a recently described developmental encephalopathy presenting with neonatal hypotonia, feeding difficulties, global developmental delay, severe intellectual disability, and frequent apnea and epilepsy. We describe 18 new individuals with heterozygous sequence variations in PURA. A neuromotor disorder starting with neonatal hyptonia, but ultimately allowing delayed progression to walking, was present in nearly all individuals. Congenital apnea was present in 56% during infancy, but all cases in this cohort resolved during the first year of life...
November 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29150706/application-of-directed-evolution-to-develop-ethanol-tolerant-oenococcus-oeni-for-more-efficient-malolactic-fermentation
#13
Alice L Betteridge, Krista M Sumby, Joanna F Sundstrom, Paul R Grbin, Vladimir Jiranek
Malolactic fermentation (MLF) is an important step in winemaking, which can be notoriously unreliable due to the fastidious nature of Oenococcus oeni. This study aimed to use directed evolution (DE) to produce a more robust strain of O. oeni having the ability to withstand high ethanol concentrations. DE involves an organism mutating and potentially adapting to a high stress environment over the course of extended cultivation. A continuous culture of O. oeni was established and exposed to progressively increasing ethanol content such that after approximately 330 generations, an isolate from this culture was able to complete MLF in high ethanol content medium earlier than its parent...
November 17, 2017: Applied Microbiology and Biotechnology
https://www.readbyqxmd.com/read/29150689/distinct-genetic-architectures-for-phenotype-means-and-plasticities-in-zea-mays
#14
Aaron Kusmec, Srikant Srinivasan, Dan Nettleton, Patrick S Schnable
Phenotypic plasticity describes the phenotypic variation of a trait when a genotype is exposed to different environments. Understanding the genetic control of phenotypic plasticity in crops such as maize is of paramount importance for maintaining and increasing yields in a world experiencing climate change. Here, we report the results of genome-wide association analyses of multiple phenotypes and two measures of phenotypic plasticity in a maize nested association mapping (US-NAM) population grown in multiple environments and genotyped with ~2...
September 2017: Nature Plants
https://www.readbyqxmd.com/read/29150594/mating-design-and-genetic-structure-of-a-multi-parent-advanced-generation-inter-cross-magic-population-of-sorghum-sorghum-bicolor-l-moench
#15
Patrick O Ongom, Gebisa Ejeta
MAGIC populations are powerful next generation mapping resources. We describe here the mating design and structure of the first MAGIC population in sorghum and test its utility for mapping. The population was developed by intercrossing 19 diverse founder lines, through a series of paired crosses with a genetic male sterile source, followed by 10 generations of random mating. At the final stage of random mating, one thousand random fertile plants in the population were identified and subjected to six generations of selfing to produce 1000 immortal MAGIC inbred lines...
November 17, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/29150593/rapid-and-efficient-crispr-cas9-based-mating-type-switching-of-saccharomyces-cerevisiae
#16
Ze-Xiong Xie, Leslie A Mitchell, Hui-Min Liu, Bing-Zhi Li, Duo Liu, Neta Agmon, Yi Wu, Xia Li, Xiao Zhou, Bo Li, Wen-Hai Xiao, Ming-Zhu Ding, Ying Wang, Ying-Jin Yuan, Jef D Boeke
Rapid and highly efficient mating-type switching of Saccharomyces cerevisiae enables a wide variety of genetic manipulations such as the construction of strains, for instance isogenic haploid pairs of both mating-types, diploids and polyploids. We used the CRISPR/Cas9 system to generate a double-strand break (DSB) at the MAT locus, and in a single co-transformation, both haploid and diploid cells were switched to the specified mating-type at ~80% efficiency. The mating-type of strains carrying either rod or ring chromosome III were switched, including those lacking HMLα and HMRa cryptic mating loci...
November 17, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/29150427/delayed-encounter-of-parental-genomes-can-lead-to-aneuploidy-in-saccharomyces%C3%A2-cerevisiae
#17
Alan Michael Tartakoff, David Dulce, Elizabeth Landis
We have investigated an extreme deviation from the norm of genome unification that occurs during mating in the yeast, Saccharomyces cerevisiae This deviation is encountered when yeast that carry a mutation of the spindle pole body protein, Kar1, are mated with wildtype cells. In this case, nuclear fusion is delayed and the genotypes of a fraction of zygotic progeny suggest that chromosomes have "transferred" between the parental nuclei in zygotes. This classic yet bizarre occurrence is routinely used to generate aneuploid (disomic) yeast...
November 17, 2017: Genetics
https://www.readbyqxmd.com/read/29150417/using-facebook-to-recruit-young-australian-men-into-a-cross-sectional-human-papillomavirus-study
#18
Roopa Das, Dorothy A Machalek, Edmund G Molesworth, Suzanne M Garland
BACKGROUND: Young men can be difficult to engage in health research using traditional methods of recruitment. Social networking sites are increasingly being used to recruit participants into health research, due to their cost effectiveness, overall generalizability, and wide reach. OBJECTIVE: The aim of this study was to determine the feasibility of using Facebook to recruit young Australian men into a human papillomavirus (HPV) prevalence study. METHODS: We recruited male permanent residents of Australia, aged 18 to 35 years, into the HPV in Young Males (HYM) study through targeted advertising placed on Facebook...
November 17, 2017: Journal of Medical Internet Research
https://www.readbyqxmd.com/read/29150360/changes-in-the-epidemiology-and-distribution-of-the-hepatitis-c-virus-genotypes-in-north-eastern-spain-over-the-last-35-years
#19
Doroteo Acero Fernández, María José Ferri Iglesias, María Buxó Pujolràs, Carmen López Nuñez, Isabel Serra Matamala, Xavier Queralt Molés, Xavier Aldeguer Manté
BACKGROUND: Genotypic distribution and epidemiology of HCV infection in Western Europe countries has changed over the last decades. AIM: To establish the local genotypic profile and characterize the associated demographic variables. MATERIAL AND METHOD: All the genotyping from 1988 to 2015 were considered. Associated demographic variables were included in logistic regression models. Genotyping was carried out with updated commercial kits. RESULTS: Genotype 1b was the most prevalent (42...
November 14, 2017: Gastroenterología y Hepatología
https://www.readbyqxmd.com/read/29149870/first-case-report-of-cohen-syndrome-in-the-tunisian-population-caused-by-vps13b-mutations
#20
Imen Rejeb, Houweyda Jilani, Yasmina Elaribi, Syrine Hizem, Lamia Hila, Julia Lauer Zillahrdt, Jamel Chelly, Lamia Benjemaa
BACKGROUND: Cohen syndrome is a rare autosomal recessive developmental disorder that comprises variable clinical features counting developmental delay, pigmentary retinopathy, myopia, acquired microcephaly, truncal obesity, joint hypermobility, friendly disposition and intermittent neutropenia. VPS13B (vacuolar protein sorting 13, yeast, homologue of B) gene is the only gene responsible for Cohen Syndrome, causative mutations include nonsense, missense, indel and splice-site variants...
November 17, 2017: BMC Medical Genetics
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