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https://www.readbyqxmd.com/read/28335547/genomic-loads-and-genotypes-of-respiratory-syncytial-virus-viral-factors-during-lower-respiratory-tract-infection-in-chilean-hospitalized-infants
#1
Yazmín Espinosa, Camila San Martín, Alejandro A Torres, Mauricio J Farfán, Juan P Torres, Vasanthi Avadhanula, Pedro A Piedra, Lorena I Tapia
The clinical impact of viral factors (types and viral loads) during respiratory syncytial virus (RSV) infection is still controversial, especially regarding newly described genotypes. In this study, infants with RSV bronchiolitis were recruited to describe the association of these viral factors with severity of infection. RSV antigenic types, genotypes, and viral loads were determined from hospitalized patients at Hospital Roberto del Río, Santiago, Chile. Cases were characterized by demographic and clinical information, including days of lower respiratory symptoms and severity...
March 21, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28335521/gene-transformation-induced-changes-in-chemical-functional-group-features-and-molecular-structure-conformation-in-alfalfa-plants-co-expressing-lc-bhlh-and-c1-myb-transcriptive-flavanoid-regulatory-genes-effects-of-single-gene-and-two-gene-insertion
#2
Ravindra G Heendeniya, Peiqiang Yu
Alfalfa (Medicago sativa L.) genotypes transformed with Lc-bHLH and Lc transcription genes were developed with the intention of stimulating proanthocyanidin synthesis in the aerial parts of the plant. To our knowledge, there are no studies on the effect of single-gene and two-gene transformation on chemical functional groups and molecular structure changes in these plants. The objective of this study was to use advanced molecular spectroscopy with multivariate chemometrics to determine chemical functional group intensity and molecular structure changes in alfalfa plants when co-expressing Lc-bHLH and C1-MYB transcriptive flavanoid regulatory genes in comparison with non-transgenic (NT) and AC Grazeland (ACGL) genotypes...
March 20, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28335454/porcine-rotaviruses-epidemiology-immune-responses-and-control-strategies
#3
REVIEW
Anastasia N Vlasova, Joshua O Amimo, Linda J Saif
Rotaviruses (RVs) are a major cause of acute viral gastroenteritis in young animals and children worldwide. Immunocompetent adults of different species become resistant to clinical disease due to post-infection immunity, immune system maturation and gut physiological changes. Of the 9 RV genogroups (A-I), RV A, B, and C (RVA, RVB, and RVC, respectively) are associated with diarrhea in piglets. Although discovered decades ago, porcine genogroup E RVs (RVE) are uncommon and their pathogenesis is not studied well...
March 18, 2017: Viruses
https://www.readbyqxmd.com/read/28335440/profile-of-polyphenol-compounds-of-five-muscadine-grapes-cultivated-in-the-united-states-and-in-newly-adapted-locations-in-china
#4
Zheng Wei, Jianming Luo, Yu Huang, Wenfeng Guo, Yali Zhang, Huan Guan, Changmou Xu, Jiang Lu
Polyphenol compositions and concentrations in skins and seeds of five muscadine grapes (cv. "Noble", "Alachua", "Carlos", "Fry", and "Granny Val") cultivated in the United States (Tallahassee-Florida, TA-FL) and South China (Nanning-Guangxi, NN-GX and Pu'er-Yunnan, PE-YN) were investigated, using ultra performance liquid chromatography tandem triple quadrupole time-of-flight mass spectrometry (UPLC Triple TOF MS/MS). Fourteen ellagitannins were newly identified in these muscadine grapes. The grapes grown in NN-GX accumulated higher levels of ellagic acid, methyl brevifolin carboxylate, and ellagic acid glucoside in skins, and penta-O-galloyl-glucose in seeds...
March 14, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28335376/genetic-polymorphisms-contribute-to-the-individual-variations-of-imatinib-mesylate-plasma-levels-and-adverse-reactions-in-chinese-gist-patients
#5
Jing Liu, Zhiyu Chen, Hanmei Chen, Yingyong Hou, Weiqi Lu, Junyi He, Hanxing Tong, Yuhong Zhou, Weimin Cai
Imatinib mesylate (IM) has dramatically improved the outcomes of gastrointestinal stromal tumor (GIST) patients. However, the clinical responses of IM may considerably vary among single individuals. This study aimed to investigate the influences of genetic polymorphisms of drug-metabolizing enzyme (CYP3A4), transporters (ABCB1, ABCG2), and nuclear receptor (Pregnane X Receptor (PXR, encoded by NR1I2)) on IM plasma levels and related adverse reactions in Chinese GIST patients. A total of 68 Chinese GIST patients who have received IM 300-600 mg/day were genotyped for six single nucleotide polymorphisms (SNPs) (CYP3A4 rs2242480; ABCB1 rs1045642; ABCG2 rs2231137; NRI12 rs3814055, rs6785049, rs2276706), and the steady-state IM trough plasma concentrations were measured by a validated HPLC method...
March 13, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28335196/gold-nanomaterial-uptake-from-soil-is-not-increased-by-arbuscular-mycorrhizal-colonization-of-solanum-lycopersicum-tomato
#6
Jonathan D Judy, Jason K Kirby, Mike J McLaughlin, Timothy Cavagnaro, Paul M Bertsch
Bioaccumulation of engineered nanomaterials (ENMs) by plants has been demonstrated in numerous studies over the past 5-10 years. However, the overwhelming majority of these studies were conducted using hydroponic systems and the degree to which the addition of the biological and chemical components present in the soil might fundamentally alter the potential of plant bioaccumulation of ENMs is unclear. Here, we used two genotypes of Solanum lycopersicum (tomato), reduced mycorrhizal colonization (rmc), a mutant which does not allow arbuscular mycorrhizal fungi (AMF) colonization, and its progenitor, 76R, to examine how colonization by AMF alters trends of gold ENM bioaccumulation from a natural soil...
April 13, 2016: Nanomaterials
https://www.readbyqxmd.com/read/28335091/assessment-of-genetic-diversity-and-phylogenetic-relationships-of-korean-native-chicken-breeds-using-microsatellite-markers
#7
Joo Hee Seo, Jun-Heon Lee, Hong Sik Kong
In this study, the genetic diversity and phylogenetic relationships of 445 Korean native chickens from five different breeds(Korean Native Chicken (NC), Leghorn (LH), Cornish (CS), Rhode Island Red (RIR), and Hanhyup(HH) commercial line) were studied by performing genotyping using 20 microsatellite (MS) markers. Among the 20 MS markers selected for the genotyping, the number of alleles ranged from 5 (ADL0268) to 20 (MCW0127). The observed heterozygosity (Hobs) ranged from 0.349 (GCT0016) to 0.683 (MCW0145)...
March 21, 2017: Asian-Australasian Journal of Animal Sciences
https://www.readbyqxmd.com/read/28335006/a-platform-for-functional-assessment-of-large-variant-libraries-in-mammalian-cells
#8
Kenneth A Matreyek, Jason J Stephany, Douglas M Fowler
Sequencing-based, massively parallel genetic assays have revolutionized our ability to quantify the relationship between many genotypes and a phenotype of interest. Unfortunately, variant library expression platforms in mammalian cells are far from ideal, hindering the study of human gene variants in their physiologically relevant cellular contexts. Here, we describe a platform for phenotyping variant libraries in transfectable mammalian cell lines in two steps. First, a landing pad cell line with a genomically integrated, Tet-inducible cassette containing a Bxb1 recombination site is created...
March 15, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28334953/early-motor-phenotype-detection-in-a-female-mouse-model-of-rett-syndrome-is-improved-by-cross-fostering
#9
Annie Vogel Ciernia, Michael Pride, Blythe Durbin-Johnson, Adriana Noronha, Alene Chang, Dag H Yasui, Jacqueline N Crawley, Janine M LaSalle
Rett syndrome (RTT) is an X-linked neurodevelopmental disorder caused by mutations in the gene encoding methyl CpG binding protein 2 (MeCP2) that occur sporadically in 1:10,000 female births. RTT is characterized by a period of largely normal development followed by regression in language and motor skills at 6-18 months of age. Mecp2 mutant mice recapitulate many of the clinical features of RTT, but the majority of behavioral assessments have been conducted in male Mecp2 hemizygous null mice as offspring of heterozygous dams...
March 11, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28334939/association-between-tau-deposition-and-antecedent-amyloid-%C3%AE-accumulation-rates-in-normal-and-early-symptomatic-individuals
#10
Duygu Tosun, Susan Landau, Paul S Aisen, Ronald C Petersen, Mark Mintun, William Jagust, Michael W Weiner
A long-term goal of our field is to determine the sequence of pathological events, which ultimately lead to cognitive decline and dementia. In this study, we first assessed the patterns of brain tau tangle accumulation (measured with the positron emission tomography tracer 18F-AV-1451) associated with well-established Alzheimer's disease factors in a cohort including cognitively healthy elderly individuals and individuals at early symptomatic stages of Alzheimer's disease. We then explored highly associated patterns of greater 18F-AV-1451 binding and increased annualized change in cortical amyloid-β plaques measured as florbetapir positron emission tomography binding antecedent to 18F-AV-1451 positron emission tomography scans, and to what extent these multimodal pattern associations explained the variance in cognitive performance and clinical outcome measures, independently and jointly...
March 17, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28334922/scn2a-deletion-improves-survival-and-brain-heart-dynamics-in-the-kcna1-null-mouse-model-of-sudden-unexpected-death-in-epilepsy-sudep
#11
Vikas Mishra, Bharat K Karumuri, Nicole M Gautier, Rui Liu, Timothy N Hutson, Stephanie L Vanhoof-Villalba, Ioannis Vlachos, Leonidas Iasemidis, Edward Glasscock
People with epilepsy have greatly increased probability of premature mortality due to sudden unexpected death in epilepsy (SUDEP). Identifying which patients are most at risk of SUDEP is hindered by a complex genetic etiology, incomplete understanding of the underlying pathophysiology, and lack of prognostic biomarkers. Here we evaluated heterozygous Scn2a gene deletion (Scn2a+/-) as a protective genetic modifier in the Kcna1 knockout mouse (Kcna1-/-) model of SUDEP, while searching for biomarkers of SUDEP risk embedded in electroencephalography (EEG) and electrocardiography (ECG) recordings...
March 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28334874/efficient-cnv-breakpoint-analysis-reveals-unexpected-structural-complexity-and-correlation-of-dosage-sensitive-genes-with-clinical-severity-in-genomic-disorders
#12
Ling Zhang, Jingmin Wang, Cheng Zhang, Dongxiao Li, Claudia M B Carvalho, Haoran Ji, Jianqiu Xiao, Ye Wu, Weichen Zhou, Hongyan Wang, Li Jin, Yang Luo, Xiru Wu, James R Lupski, Feng Zhang, Yuwu Jiang
Genomic disorders are the clinical conditions manifested by submicroscopic genomic rearrangements including copy number variants (CNVs). The CNVs can be identified by array-based comparative genomic hybridization (aCGH), the most commonly used technology for molecular diagnostics of genomic disorders. However, clinical aCGH only informs CNVs in the probe interrogated regions. Neither orientational information nor the resulting genomic rearrangement structure is provided, which is a key to uncovering mutational and pathogenic mechanisms underlying genomic disorders...
March 14, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28334789/comparative-evaluation-of-norovirus-infection-in-children-with-acute-gastroenteritis-by-rapid-immunochromatographic-test-rt-pcr-and-real-time-rt-pcr
#13
Kattareeya Kumthip, Pattara Khamrin, Wilaiporn Saikruang, Kanittapon Supadej, Hiroshi Ushijima, Niwat Maneekarn
Immunochromatographic (IC) test for norovirus detection is a rapid and simple detection method. This study evaluated the sensitivity and specificity of a recent version of R-Biopharm RIDA®QUICK Norovirus IC assay for norovirus detection in fecal specimens from children hospitalized with acute gastroenteritis. Fecal specimens were tested by IC kit in comparison with gold standard reverse transcription polymerase chain reaction (RT-PCR) and real-time RT-PCR. The IC kit showed high sensitivity and specificity comparable with PCR-based methods...
March 2, 2017: Journal of Tropical Pediatrics
https://www.readbyqxmd.com/read/28334784/testing-the-ret-and-sema3d-genetic-interaction-in-mouse-enteric-nervous-system-development
#14
Ashish Kapoor, Dallas R Auer, Dongwon Lee, Sumantra Chatterjee, Aravinda Chakravarti
For most multigenic disorders, clinical manifestation (penetrance) and presentation (expressivity) are likely to be an outcome of genetic interaction between multiple susceptibility genes. Here, using gene knockouts in mice we evaluated genetic interaction between loss of Ret and loss of Sema3d, two Hirschsprung disease susceptibility genes. We intercrossed Ret and Sema3d double null heterozygotes to generate mice with the nine possible genotypes and assessed survival by counting various genotypes, myenteric plexus presence by acetylcholinesterase staining and embryonic day 12...
March 7, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28334762/missense-uros-mutations-causing-congenital-erythropoietic-porphyria-reduce-uros-homeostasis-that-can-be-rescued-by-proteasome-inhibition
#15
Jean-Marc Blouin, Ganeko Bernardo-Seisdedos, Emma Sasso, Julie Esteve, Cécile Ged, Magalie Lalanne, Arantza Sanz-Parra, Pedro Urquiza, Hubert de Verneuil, Oscar Millet, Emmanuel Richard
Congenital erythropoietic porphyria (CEP) is an inborn error of heme biosynthesis characterized by uroporphyrinogen III synthase (UROS) deficiency resulting in deleterious porphyrin accumulation in blood cells responsible for hemolytic anemia and cutaneous photosensitivity. We analyzed here the molecular basis of UROS impairment associated with twenty nine UROS missense mutations actually described in CEP patients. Using a computational and biophysical joint approach we predicted that most disease-causing mutations would affect UROS folding and stability...
February 21, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28334725/predominance-of-g9p-4-rotavirus-from-children-with-acute-gastroenteritis-in-northwestern-mexico
#16
Leticia Felix-Valenzuela, Dora Patricia Cooley-García, Manuel Alberto Cano-Rangel, Maria de Los Angeles Durazo-Arvizu, Veronica Mata-Haro
In Mexico, group A rotavirus (RVA) infections remain the most common cause of severe dehydrating diarrhea in children. This study was conducted to examine the circulating RVA strains in the northwest region of Mexico. RVA strains collected from stool samples of children were genotyped, and their partial sequences were analyzed. RT-PCR of the VP4 and VP7 genes showed the partial G9P[4] genotype in all the samples. Sequencing and phylogenetic analysis of the partial VP7 gene amplicons of 10 strains showed that they clustered in the RVA G9 lineage III, and 7 of them showed 100% identity with the reference strain LB1562, which was collected in the USA 2 years earlier...
March 23, 2017: Intervirology
https://www.readbyqxmd.com/read/28334662/the-association-between-personality-disorders-with-alcohol-use-and-misuse-a-population-based-twin-study
#17
E C Long, S H Aggen, M C Neale, G P Knudsen, R F Krueger, S C South, N Czajkowski, R Nesvåg, E Ystrom, F A Torvik, K S Kendler, N A Gillespie, T Reichborn-Kjennerud
BACKGROUND: A clearer understanding of the etiological overlap between DSM-IV personality disorders (PDs) and alcohol use (AU) and alcohol use disorder (AUD) is needed. To our knowledge, no study has modeled the association between all 10 DSM-IV PDs and lifetime AU and AUD. The aim of the present study is to identify which PDs are most strongly associated with the phenotypic, genetic, and environmental risks of lifetime AU and AUD, and to determine if these associations are stable across time...
March 7, 2017: Drug and Alcohol Dependence
https://www.readbyqxmd.com/read/28334647/arsenic-load-in-rice-ecosystem-and-its-mitigation-through-deficit-irrigation
#18
Arkabanee Mukherjee, M Kundu, B Basu, B Sinha, M Chatterjee, M Das Bairagya, U K Singh, S Sarkar
Rice the staple food is a notable intake source of arsenic to the rural population of eastern India through food-chain. A field survey was carried out to study the variation of arsenic load in different parts of rice genotype Shatabdi (most popular genotype of the region) exposed to varying level of arsenic present in the irrigation water and soil. As irrigation is the primary source of arsenic contamination, a study was conducted to assess arsenic load in rice ecosystem under deficit irrigation practices like intermittent ponding (IP), saturation (SAT) and aerobic (AER) imposed during stress allowable stage (16-40 days after transplanting) of the crop (genotype Shatabdi)...
March 20, 2017: Journal of Environmental Management
https://www.readbyqxmd.com/read/28334414/association-of-a-haplotype-in-the-nr3c2-gene-encoding-the-mineralocorticoid-receptor-with-chronic-central-serous-chorioretinopathy
#19
Elon H C van Dijk, Rosa L Schellevis, Maaike G J M van Bergen, Myrte B Breukink, Lebriz Altay, Paula Scholz, Sascha Fauser, Onno C Meijer, Carel B Hoyng, Anneke I den Hollander, Camiel J F Boon, Eiko K de Jong
Importance: Chronic central serous chorioretinopathy (cCSC) is a chorioretinal disease with unknown disease etiology. The glucocorticoid receptor and the mineralocorticoid receptor, 2 glucocorticoid-binding receptors, might be involved in the pathogenesis of cCSC. Objective: To assess the association of functional variants and haplotypes in the glucocorticoid receptor (NR3C1) and mineralocorticoid receptor (NR3C2) genes with cCSC. Design, Setting, and Participants: In this case-control genetic association study, 336 patients with cCSC and 1314 unaffected controls, collected at 3 university medical centers from September 1, 2009, to May 1, 2016, underwent KASP genotyping for selected variants in NR3C1 (rs56149945, rs41423247, and rs6198) and NR3C2 (rs2070951 and rs5522)...
March 23, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28334397/does-post-implementation-vaccine-effectiveness-data-support-pre-implementation-predictions-of-4cmenb-utility
#20
Jamie Findlow, Ray Borrow
Meningococcal serogroup B vaccines have been licensed on the basis of safety and immunogenicity data without efficacy studies. Establishing the breadth of coverage of these new vaccines has proved difficult and relied on correlates of protection such as serum bactericidal antibody and a novel assays such as the Meningococcal Antigen Typing System. The demonstration of the effectiveness of 4CMenB in a reduced infant dose schedule together with detailed phenotypic and genotypic information gained from isolates and sera from cases of invasive MenB disease in vaccine eligible infants will enable a re-evaluation of our knowledge of correlates of protection...
March 8, 2017: Pathogens and Disease
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