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https://www.readbyqxmd.com/read/27933712/the-importance-of-mrna-structure-in-determining-the-pathogenicity-of-synonymous-and-non-synonymous-mutations-in-haemophilia
#1
N Hamasaki-Katagiri, B C Lin, J Simon, R C Hunt, T Schiller, E Russek-Cohen, A A Komar, H Bar, C Kimchi-Sarfaty
INTRODUCTION: Mutational analysis is commonly used to support the diagnosis and management of haemophilia. This has allowed for the generation of large mutation databases which provide unparalleled insight into genotype-phenotype relationships. Haemophilia is associated with inversions, deletions, insertions, nonsense and missense mutations. Both synonymous and non-synonymous mutations influence the base pairing of messenger RNA (mRNA), which can alter mRNA structure, cellular half-life and ribosome processivity/elongation...
December 9, 2016: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/27933698/sofosbuvir-plus-ribavirin-in-treatment-na%C3%A3-ve-patients-with-chronic-hepatitis-c-virus-genotype-1-or-3-infection-in-india
#2
S R Shah, A Chowdhury, R Mehta, D Kapoor, A Duseja, A Koshy, A Shukla, A Sood, K Madan, R Sud, S Nijhawan, R Pawan, M Prasad, K Kersey, D Jiang, E Svarovskaia, B Doehle, B Kanwar, M Subramanian, S K Acharya, S Sarin
Until 2014, pegylated interferon plus ribavirin was the recommended standard of care for the treatment of chronic hepatitis C virus (HCV) infection in India. This open-label phase 3b study, conducted across 14 sites in India between 31 March 2014 and 30 November 2015, evaluated the efficacy and safety of sofosbuvir plus ribavirin therapy among treatment-naïve patients with chronic genotype 1 or 3 HCV infection. A total of 117 patients with genotype 1 or 3 HCV infection were randomized 1:1 to receive sofosbuvir 400 mg and weight-based ribavirin (1000 or 1200 mg) daily for 16 or 24 weeks...
December 9, 2016: Journal of Viral Hepatitis
https://www.readbyqxmd.com/read/27933683/genetics-and-the-conservation-of-natural-populations-allozymes-to-genomes
#3
Fred W Allendorf
I consider how the study of genetic variation has influenced efforts to conserve natural populations over the last 50 years. Studies with allozymes in the 1970s provided the first estimates of the amount of genetic variation within and between natural populations at multiple loci. These early studies played an important role in developing plans to conserve species. The description of genetic variation in mitochondrial DNA in the early 1980s laid the foundation for the field of phylogeography, which provided a deeper look in time of the relationships and connectivity among populations...
December 9, 2016: Molecular Ecology
https://www.readbyqxmd.com/read/27933674/heterosis-in-hybrids-within-and-between-yeast-species
#4
Joana Bernardes, Rike B Stelkens, Duncan Greig
The performance of hybrids relative to their parents is an important factor in speciation research. We measured the growth of 46 Saccharomyces yeast F1 inter-specific and intra-specific hybrids, relative to the growth of each of their parents, in pairwise competition assays. We found that the growth of a hybrid relative to the average of its parents, a measure of mid-parent heterosis, correlated with the difference in parental growth relative to their hybrid, a measure of phenotypic divergence, which is consistent with simple complementation of low fitness alleles in one parent by high fitness alleles in the other...
December 9, 2016: Journal of Evolutionary Biology
https://www.readbyqxmd.com/read/27933557/atypical-presentation-and-treatment-response-in-a-child-with-familial-hypercholesterolemia-having-a-novel-ldlr-mutation
#5
S Varma, A D McIntyre, R A Hegele
Familial hypercholesterolemia (FH) is an autosomal codominantly inherited disease. The severity of clinical presentation depends on the zygosity of the mutations in the LDLR, APOB, or PCSK9 genes. The homozygous form (HoFH) is associated with high mortality rate by third decade of life, while individuals with HeFH begin to suffer from premature cardiovascular disease in fourth or fifth decade of life. Statin drugs have helped to improve the biochemical profile and life expectancy in HeFH, while they are only minimally effective in HoFH...
December 9, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27933541/social-interactions-and-indirect-genetic-effects-on-complex-juvenile-and-adult-traits
#6
David G Ashbrook, Reinmar Hager
Most animal species are social in one form or another, yet many studies in rodent model systems use either individually housed animals or ignore potential confounds caused by group housing. While such social interaction effects on developmental and behavioral traits are well established, the genetic basis of social interactions has not been researched in as much detail. Specifically, the effects of genetic variation in social partners on the phenotype of a focal individual have mostly been studied at the phenotypic level...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27933539/systems-genetics-analysis-of-iron-and-its-regulation-in-brain-and-periphery
#7
Byron C Jones, Leslie C Jellen
In this contribution, we demonstrate the utility of the systems genetics-systems biology approach to the study of iron regulation while employing a comprehensive database. We describe our work in iron regulation in the brain and periphery under normal iron and iron-restricted dietary conditions in the BXD family of recombinant inbred mouse strains. Using multiple measures, we showed wide variation among the strains in the effect of being fed an iron-restricted diet for 100 days in every measure from brain and from the periphery...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27933532/precise-network-modeling-of-systems-genetics-data-using-the-bayesian-network-webserver
#8
Jesse D Ziebarth, Yan Cui
The Bayesian Network Webserver (BNW, http://compbio.uthsc.edu/BNW ) is an integrated platform for Bayesian network modeling of biological datasets. It provides a web-based network modeling environment that seamlessly integrates advanced algorithms for probabilistic causal modeling and reasoning with Bayesian networks. BNW is designed for precise modeling of relatively small networks that contain less than 20 nodes. The structure learning algorithms used by BNW guarantee the discovery of the best (most probable) network structure given the data...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27933529/qtl-mapping-and-identification-of-candidate-genes-in-do-mice-a-use-case-model-derived-from-a-benzene-toxicity-experiment
#9
Dan Gatti, John E French, Klaus Schughart
Diversity Outbred (DO) mice are a multiparental advanced generation intercross population derived from eight inbred strains which are genetically very diverse. They are maintained as an outbred population using a randomized mating design. Thus DO mice represent an ideal population to map phenotypic traits. Here, we provide a case study in which male DO mice were exposed to benzene and phenotyped for the number of micronucleated reticulocytes. We provide step-by-step R scripts for the analysis of phenotypes, genotypes, mapping of resistance gene loci and identification of candidate genes...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27933493/norovirus-gii-pe-genotype-tracking-a-foodborne-outbreak-on-a-cruise-ship-through-molecular-epidemiology-brazil-2014
#10
Simone Guadagnucci Morillo, Adriana Luchs, Audrey Cilli, Cibele Daniel Ribeiro, Rita de Cássia Compagnoli Carmona, Maria do Carmo Sampaio Tavares Timenetsky
Norovirus (NoV) is recognized as the most common cause of foodborne outbreaks. In 2014, an outbreak of acute gastroenteritis occurred on a cruise ship in Brazil, and NoV became the suspected etiology. Here we present the molecular identification of the NoV strains and the use of sequence analysis to determine modes of virus transmission. Food (cream cheese, tuna salad, grilled fish, orange mousse, and vegetables soup) and clinical samples were analyzed by ELISA, conventional RT-PCR, qRT-PCR, and sequencing...
December 8, 2016: Food and Environmental Virology
https://www.readbyqxmd.com/read/27933455/exploration-of-genetic-and-phenotypic-diversity-within-saccharomyces-uvarum-for-driving-strain-improvement-in-winemaking
#11
Alexandra Verspohl, Lisa Solieri, Paolo Giudici
The selection and genetic improvement of wine yeast is an ongoing process, since yeast strains should match new technologies in winemaking to satisfy evolving consumer preferences. A large genetic background is the necessary starting point for any genetic improvement programme. For this reason, we collected and characterized a large number of strains belonging to Saccharomyces uvarum. In particular, 70 strains were isolated from cold-stored must samples: they were identified and compared to S. uvarum strains originating from different collections, regarding fermentation profile, spore viability and stress response...
December 8, 2016: Applied Microbiology and Biotechnology
https://www.readbyqxmd.com/read/27933412/genetic-diversity-study-on-12-x-str-loci-of-investigator%C3%A2-argus-x-str-kit-in-bangladeshi-population
#12
Abu Sufian, Md Ismail Hosen, Kaniz Fatema, Tania Hossain, Md Mahamud Hasan, Ashish Kumar Mazumder, Sharif Akhteruzzaman
The X-chromosome short tandem repeat (STR) loci are of particular interest for solving complex kinship and paternity cases. Here, we report the genetic data from 209 unrelated Bangladeshi individuals (102 males and 107 females) that were genotyped using the 12 X-chromosomal STR markers included in the Investigator® Argus X-12 kit (Qiagen). The 12 X-STR markers are located in four linkage groups (linkage group I: DXS10135, DXS10148, and DXS8378; linkage group II: DXS7132, DXS10079, and DXS10074; linkage group III: DXS10103, HPRTB, and DXS10101; and linkage group IV: DXS10146, DXS10134, and DXS7423)...
December 8, 2016: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/27933374/polymorphisms-of-the-tgf-%C3%AE-1-gene-and-the-risk-of-acquired-aplastic-anemia-in-a-chinese-population
#13
Xue-Hong Liang, Liucheng Rong, Guangsheng He, Hailong He, Shengyun Lin, Yan Yang, Yao Xue, Yongjun Fang
Acquired aplastic anemia (AA) is a hematological disease characterized by failure of bone marrow hematopoiesis resulting in pancytopenia. While immune-mediated destruction of hematopoietic stem/progenitor cells (HSPCs) plays a central role in the pathophysiology of acquired AA, the transforming growth factor-β1 (TGF-β1) is crucial in adjusting the immune system. The aim of our study was to investigate the role of TGF-β1 gene polymorphisms rs1800469 and rs2317130 in susceptibility to acquired AA. Via the approach of SNaPshot, we genotyped rs1800469 and rs2317130 in 101 patients with acquired AA and 165 controls...
December 9, 2016: Annals of Hematology
https://www.readbyqxmd.com/read/27933342/prediction-of-nk-cell-licensing-level-in-selection-of-hematopoietic-stem-cell-donor-initial-results
#14
Marta Rogatko-Koroś, Renata Mika-Witkowska, Katarzyna Bogunia-Kubik, Barbara Wysoczańska, Emilia Jaskuła, Katarzyna Kościńska, Klaudia Nestorowicz, Joanna Dziopa, Urszula Szlendak, Sławomir Gwozdowicz, Elżbieta Graczyk-Pol, Andrzej Lange, Jacek Nowak
Natural killer (NK) cell licensing status depends on clonal expression of inhibitory killer cell immunoglobulin-like receptors (iKIR) and short term HLA environment. Licensed NK cells are more efficient in tumor killing than unlicensed NK cells. Cognate KIR-HLA pairs in hematopoietic stem cell transplant (HSCT) donor and recipient are decisive for the possible change in the NK cell licensing status after HSCT. We assessed clinical outcomes in 297 patients with lymphoproliferative or myeloproliferative malignancies, or myelodysplastic syndrome in a model with upward licensing, downward resetting, and unchanged licensing genetics status after T cell replate HSCT from unrelated donors...
December 8, 2016: Archivum Immunologiae et Therapiae Experimentalis
https://www.readbyqxmd.com/read/27933341/intragenic-variations-in-btla-gene-influence-mrna-expression-of-btla-gene-in-chronic-lymphocytic-leukemia-patients-and-confer-susceptibility-to-chronic-lymphocytic-leukemia
#15
Lidia Karabon, Anna Partyka, Monika Jasek, Ewa Lech-Maranda, Olga Grzybowska-Izydorczyk, Agnieszka Bojarska-Junak, Edyta Pawlak-Adamska, Anna Tomkiewicz, Tadeusz Robak, Jacek Rolinski, Irena Frydecka
The aim of this study was to determine the association between polymorphisms in gene encoding B- and T-lymphocyte attenuator (BTLA) and susceptibility to chronic lymphocytic leukemia (CLL) and their influence on mRNA expression of BTLA gene in T and B cells from CLL patients (pts.). The following BTLA single-nucleotide polymorphisms (SNPs): rs2705511, rs1982809, rs9288952, rs76844316, rs16859633, rs9288953, rs2705535, rs1844089, rs2705565, rs2633580 were genotyped with use of TaqMan probes in 321 CLL pts. and in 470 controls...
December 8, 2016: Archivum Immunologiae et Therapiae Experimentalis
https://www.readbyqxmd.com/read/27933276/acinetobacter-baumannii-isolated-from-lebanese-patients-phenotypes-and-genotypes-of-resistance-clonality-and-determinants-of-pathogenicity
#16
Elias Dahdouh, Micheline Hajjar, Monica Suarez, Ziad Daoud
Introduction:Acinetobacter baumannii is a nosocomial pathogen that usually affects critically ill patients. High mortality rates have been associated with MDR A. baumannii infections. Carbapenem resistance among these isolates is increasing worldwide and is associated with certain International Clones (ICs) and oxacillinases (OXAs). Moreover, this organism possesses a wide range of virulence factors, whose expression is not yet fully understood. In this study, clinical A. baumannii isolates are characterized in terms of antibiotic resistance, mechanisms of carbapenem resistance, clonality, and virulence...
2016: Frontiers in Cellular and Infection Microbiology
https://www.readbyqxmd.com/read/27933232/molecular-characterization-and-phylogenetic-analysis-of-dengue-virus-type-1-in-guangdong-in-2014
#17
Pei Wang, Huiling Wang, Jianhai Yu, Qian Xie, Zhiwei Yao, Zhiran Qin, Weizhi Lu, Jia Li, Minyi Zhang, Guangjin Cao, Zhicheng Zhong, Tianwen He, Danjuan Ma, Bao Zhang, Wei Zhao
BACKGROUND: Dengue is one of the most important emerging diseases of humans, with no preventive vaccines or antiviral cures available currently. In 2014, the Southeast Asian region experienced an unprecedented outbreak of dengue, especially in Guangdong, China. RESULTS: The nucleotide sequences of the E gene from 23 patients sera of dengue virus type 1 (DENV-1) from Guangzhou, China, were determined. One isolate that was recovered from a patient with serious liver damage was designated GZ02...
2016: SpringerPlus
https://www.readbyqxmd.com/read/27933195/cr1-exon-variants-are-associated-with-lowered-cr1-expression-and-increased-susceptibility-to-sle-in-a-plasmodium-falciparum-endemic-population
#18
Aditya K Panda, Balachandran Ravindran, Bidyut K Das
BACKGROUND: Complement receptor 1 (CR1) plays an important role in immune complex clearance by opsonisation and possibly protects subjects from development of autoantibodies. Lower CR1 expression has been associated with susceptibility to systemic lupus erythematosus (SLE). In contrast, subjects displaying lower CR1 expression are protected against severe manifestations of falciparum malaria. This study is the first of its kind to investigate the association of CR1 variants with development of SLE in a P...
2016: Lupus Science & Medicine
https://www.readbyqxmd.com/read/27933091/spatially-heterogeneous-environmental-selection-strengthens-evolution-of-reproductively-isolated-populations-in-a-dobzhansky-muller-system-of-hybrid-incompatibility
#19
Samuel A Cushman, Erin L Landguth
Within-species hybrid incompatibility can arise when combinations of alleles at more than one locus have low fitness but where possession of one of those alleles has little or no fitness consequence for the carriers. Limited dispersal with small numbers of mate potentials alone can lead to the evolution of clusters of reproductively isolated genotypes despite the absence of any geographical barriers or heterogeneous selection. In this paper, we explore how adding heterogeneous natural selection on the genotypes (e...
2016: Frontiers in Genetics
https://www.readbyqxmd.com/read/27933086/genotypic-differences-in-phosphorus-efficiency-and-the-performance-of-physiological-characteristics-in-response-to-low-phosphorus-stress-of-soybean-in-southwest-of-china
#20
Tao Zhou, Yongli Du, Shoaib Ahmed, Ting Liu, Menglu Ren, Weiguo Liu, Wenyu Yang
Southwest of China is one of the major soybean (Glycine max L.) production regions in China with low availability of soil phosphorus (P). Whereas little information is available on P-efficient soybean genotypes in this region, even though using P-efficient soybean genotypes is a sustainable P management strategy for enhancing yield and P use efficiency. To assess the genetic variation on P use efficiency, 274 soybean genotypes were employed to compare the yields and P acquisition potentials in the field. Additionally, 10 representational genotypes (5 P-efficient genotypes and 5 P-inefficient genotypes) were grown in hydroponic media containing low P treatment (0...
2016: Frontiers in Plant Science
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