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https://www.readbyqxmd.com/read/28806853/development-of-hepatocyte-like-cell-derived-from-human-induced-pluripotent-stem-cell-as-a-host-for-clinically-isolated-hepatitis-c-virus
#1
Khanit Sa-Ngiamsuntorn, Suradej Hongeng, Adisak Wongkajornsilp
This unit describes protocols to develop hepatocyte-like cells (HLCs) starting from mesenchymal stem cells (MSCs) as a natural host for hepatitis C virus (HCV). These include the preparation of MSCs from bone marrow, the reprogramming of MSCs into induced pluripotent stem cells (iPSCs), and the differentiation of iPSCs into HLCs. This unit also incorporates the characterization of the resulting cells at each stage. Another section entails the preparations of HCV. The sources of HCV are either the clinically isolated HCV (HCVser) and the conventional JFH-1 genotype...
August 14, 2017: Current Protocols in Stem Cell Biology
https://www.readbyqxmd.com/read/28806841/genetic-polymorphisms-as-predictive-markers-of-response-to-growth-hormone-therapy-in-children-with-growth-hormone-deficiency
#2
Anna Maria Jung, Martin Zenker, Christina Lißewski, Denny Schanze, Stefan Wagenpfeil, Tilman Robert Rohrer
Objective Growth hormone (GH) deficiency (GHD) is commonly treated with recombinant human GH (rhGH). Individual response to rhGH therapy varies widely and there is evidence that variations in growth-related genes, e. g. the GH receptor (GHR) gene, may impact treatment response. We aimed to identify genetic polymorphisms which could serve as predictive markers of response to rhGH therapy. Methods We conducted a genetic analysis of single nucleotide polymorphisms (SNPs) and the GHR exon 3 deletion in 101 paediatric GHD patients receiving rhGH...
August 14, 2017: Klinische Pädiatrie
https://www.readbyqxmd.com/read/28806735/molecular-characterization-and-multi-locus-genotypes-of-enterocytozoon-bieneusi-from-captive-red-kangaroos-macropus-rfus-in-jiangsu-province-china
#3
Zhijun Zhong, Yinan Tian, Yuan Song, Lei Deng, Junxian Li, Zhihua Ren, Xiaoping Ma, Xiaobin Gu, Changliang He, Yi Geng, Guangneng Peng
Enterocytozoon bieneusi is the most common pathogen of microsporidian species infecting humans worldwide. Although E. bieneusi has been found in a variety of animal hosts, information on the presence of E. bieneusi in captive kangaroos in China is limited. The present study was aimed at determining the occurrence and genetic diversity of E. bieneusi in captive kangaroos. A total of 61 fecal specimens (38 from red kangaroos and 23 from grey kangaroos) were collected from Nanjing Hongshan Forest Zoo and Hongshan Kangaroo Breeding Research Base, Jiangsu province, China...
2017: PloS One
https://www.readbyqxmd.com/read/28806535/interactions-between-genetic-polymorphisms-of-glucose-metabolizing-genes-and-smoking-and-alcohol-consumption-in-the-risk-of-type-2-diabetes-mellitus
#4
Kaiping Gao, Yongcheng Ren, Jinjin Wang, Zichen Liu, Jianna Li, Linlin Li, Bingyuan Wang, Hong Li, Yaxi Wang, Yunkai Cao, Kinji Ohno, Rihong Zhai, Zhen Liang
The impact of gene-environment interaction on diabetes remains largely unknown. We aimed to investigate whether interaction between glucose metabolizing genes and lifestyle factors are associated with type 2 diabetes mellitus (T2DM). METHODS- Interactions between genotypes of 4 glucose metabolizing genes (MTNR1B, KCNQ1, KLF14, and GCKR) and lifestyle factors were estimated in 722 T2DM patients and 759 controls, using multiple logistic regression. RESULTS- No significant associations with T2DM were detected for the SNPs of MTNR1B, KLF14 and GCKR...
August 14, 2017: Applied Physiology, Nutrition, and Metabolism, Physiologie Appliquée, Nutrition et Métabolisme
https://www.readbyqxmd.com/read/28806457/neurodevelopmental-disorders-caused-by-de-novo-variants-in-kcnb1-genotypes-and-phenotypes
#5
Carolien G F de Kovel, Steffen Syrbe, Eva H Brilstra, Nienke Verbeek, Bronwyn Kerr, Holly Dubbs, Allan Bayat, Sonal Desai, Sakkubai Naidu, Siddharth Srivastava, Hande Cagaylan, Uluc Yis, Carol Saunders, Martin Rook, Susanna Plugge, Hiltrud Muhle, Zaid Afawi, Karl-Martin Klein, Vijayakumar Jayaraman, Ramakrishnan Rajagopalan, Ethan Goldberg, Eric Marsh, Sudha Kessler, Christina Bergqvist, Laura K Conlin, Bryan L Krok, Isabelle Thiffault, Manuela Pendziwiat, Ingo Helbig, Tilman Polster, Ingo Borggraefe, Johannes R Lemke, Marie-José van den Boogaardt, Rikke S Møller, Bobby P C Koeleman
Importance: Knowing the range of symptoms seen in patients with a missense or loss-of-function variant in KCNB1 and how these symptoms correlate with the type of variant will help clinicians with diagnosis and prognosis when treating new patients. Objectives: To investigate the clinical spectrum associated with KCNB1 variants and the genotype-phenotype correlations. Design, Setting, and Participants: This study summarized the clinical and genetic information of patients with a presumed pathogenic variant in KCNB1...
August 14, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28806198/pre-treatment-integrase-strand-transfer-inhibitor-resistance-in-north-carolina-from-2010-2016
#6
Timothy W Menza, Rachael Billock, Erika Samoff, Joseph J Eron, Ann M Dennis
OBJECTIVE: We sought to define the prevalence of pre-treatment INSTI resistance and assess the transmission networks of those with pre-treatment INSTI resistance. DESIGN: A retrospective cohort study of HIV-positive patients with genotypic resistance testing sent to a single referral laboratory in North Carolina between 2010 and 2016. METHODS: We linked genotype and public health data for in-care HIV-positive individuals to determine the prevalence of INSTI resistance among treatment-naïve (defined as those with a first genotype ≤3 months after diagnosis) and treatment-experienced (defined as those with a first genotype >3 months after diagnosis) patients...
August 12, 2017: AIDS
https://www.readbyqxmd.com/read/28805929/the-impact-of-training-strategies-on-the-accuracy-of-genomic-predictors-in-united-states-red-angus-cattle
#7
J Lee, S D Kachman, M L Spangler
Genomic selection (GS) has become an integral part of genetic evaluation methodology and has been applied to all major livestock species, including beef and dairy cattle, pigs, and chickens. Significant contributions in increased accuracy of selection decisions have been clearly illustrated in dairy cattle after practical application of GS. In the majority of U.S. beef cattle breeds, similar efforts have also been made to increase the accuracy of genetic merit estimates through the inclusion of genomic information into routine genetic evaluations using a variety of methods...
August 2017: Journal of Animal Science
https://www.readbyqxmd.com/read/28805917/technical-note-impact-of-pedigree-depth-on-convergence-of-single-step-genomic-blup-in-a-purebred-swine-population
#8
I Pocrnic, D A L Lourenco, H L Bradford, C Y Chen, I Misztal
In genomic evaluations, it is desirable to have low computing cost while retaining high accuracy of evaluation for young animals. When the population is large but only few animals have phenotypes, especially for low heritability traits, the convergence rate of BLUP or single-step genomic BLUP (ssGBLUP) can be very slow. This study investigates the effect of pedigree truncation on convergence rate and solutions of ssGBLUP for data exhibiting slow convergence. The data consisted of 216,000, 221,000, 732,000, and 579,000 phenotypes on 4 traits...
August 2017: Journal of Animal Science
https://www.readbyqxmd.com/read/28805914/genomic-prediction-for-growth-and-reproduction-traits-in-pig-using-an-admixed-reference-population
#9
H Song, J Zhang, Y Jiang, H Gao, S Tang, S Mi, F Yu, Q Meng, W Xiao, Q Zhang, X Ding
This study investigated the efficiency of genomic prediction using an admixed reference population comprising 3 Yorkshire populations with different genetic backgrounds. In total, 2,084 and 1,388 individuals with growth and reproduction records, respectively, were genotyped with a PorcineSNP80 marker panel. The corrected phenotypic values derived from conventional EBV of each population were taken as response variables. Three approaches, that is, a linear genomic BLUP (GBLUP) model, a Bayesian mixture model (BayesR), and single-step GBLUP (ssGBLUP), were implemented to predict genomic breeding values...
August 2017: Journal of Animal Science
https://www.readbyqxmd.com/read/28805909/genomewide-association-study-for-production-and-meat-quality-traits-in-canchim-beef-cattle
#10
G G Santiago, F Siqueira, F F Cardoso, L C A Regitano, R Ventura, B P Sollero, M D Souza, F B Mokry, A B R Ferreira, R A A Torres
The commercial value of the bovine carcass is determined by a set of traits, such as weight, yield, back fat thickness, and marbling; therefore, the genetic improvement of growth, meat, and carcass quality traits is an important tool to add value to the supply chain. Genomewide association studies (GWAS) enable the identification of loci that control phenotypic expression of quantitative traits (QTL). Therefore, the objective of this work was to perform a GWAS to identify genomic regions and genes associated with growth, carcass traits, and meat quality in Canchim beef cattle...
August 2017: Journal of Animal Science
https://www.readbyqxmd.com/read/28805903/chronic-activation-of-amp-activated-protein-kinase-increases-monocarboxylate-transporter-2-and-4-expression-in-skeletal-muscle
#11
E M England, H Shi, S K Matarneh, E M Oliver, E T Helm, T L Scheffler, E Puolanne, D E Gerrard
Acute activation of AMP-activated protein kinase (AMPK) increases monocarboxylate transporter (MCT) expression in skeletal muscle. However, the impact of chronic activation of AMPK on MCT expression in skeletal muscle is unknown. To investigate, MCT1, MCT2, and MCT4 mRNA expression and protein abundance were measured in the longissimus lumborum (glycolytic), masseter (oxidative), and heart from wild-type (control) and AMPK γ3 pigs. The AMPK γ3 gain in function mutation results in AMPK being constitutively active in glycolytic skeletal muscle and increases energy producing pathways...
August 2017: Journal of Animal Science
https://www.readbyqxmd.com/read/28805899/effects-of-forage-types-on-digestibility-methane-emissions-and-nitrogen-utilization-efficiency-in-two-genotypes-of-hill-ewes
#12
Y G Zhao, R Annett, T Yan
Thirty-six nonpregnant hill ewes (18 pure Scottish Blackface and 18 Swaledale × Scottish Blackface) aged 18 mo and weighing 48 ± 4.8 kg were allocated to 3 forage treatments balanced for genotype and BW. Each genotype was offered 3 forages (pelleted ryegrass, fresh lowland grass, and fresh hill grass) ad libitum with 6 ewes for each of the 6 genotype × diet combination treatments. Pelleted ryegrass was sourced from a commercial supplier (Drygrass South Western Ltd, Burrington, UK). Fresh lowland grass was harvested daily in the morning from a third regrowth perennial ryegrass () sward...
August 2017: Journal of Animal Science
https://www.readbyqxmd.com/read/28805893/board-invited-review-the-purebred-crossbred-correlation-in-pigs-a-review-of-theory-estimates-and-implications
#13
Y C J Wientjes, M P L Calus
Pig and poultry production relies on crossbreeding of purebred populations to produce production animals. In those breeding schemes, selection takes place within the purebred population to improve crossbred performance (CB performance). The genetic correlation between purebred performance (PB performance) and CB performance () is, however, lower than unity for many traits. When is low, the use of CB performance in selection is required to achieve sizable genetic progress. The objectives of this paper were to describe the different components and importance of , and to review existing literature that report estimates in pigs...
August 2017: Journal of Animal Science
https://www.readbyqxmd.com/read/28805827/transcriptional-risk-scores-link-gwas-to-eqtls-and-predict-complications-in-crohn-s-disease
#14
Urko M Marigorta, Lee A Denson, Jeffrey S Hyams, Kajari Mondal, Jarod Prince, Thomas D Walters, Anne Griffiths, Joshua D Noe, Wallace V Crandall, Joel R Rosh, David R Mack, Richard Kellermayer, Melvin B Heyman, Susan S Baker, Michael C Stephens, Robert N Baldassano, James F Markowitz, Mi-Ok Kim, Marla C Dubinsky, Judy Cho, Bruce J Aronow, Subra Kugathasan, Greg Gibson
Gene expression profiling can be used to uncover the mechanisms by which loci identified through genome-wide association studies (GWAS) contribute to pathology. Given that most GWAS hits are in putative regulatory regions and transcript abundance is physiologically closer to the phenotype of interest, we hypothesized that summation of risk-allele-associated gene expression, namely a transcriptional risk score (TRS), should provide accurate estimates of disease risk. We integrate summary-level GWAS and expression quantitative trait locus (eQTL) data with RNA-seq data from the RISK study, an inception cohort of pediatric Crohn's disease...
August 14, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28805808/constraints-and-consequences-of-the-emergence-of-amino-acid-repeats-in-eukaryotic-proteins
#15
Sreenivas Chavali, Pavithra L Chavali, Guilhem Chalancon, Natalia Sanchez de Groot, Rita Gemayel, Natasha S Latysheva, Elizabeth Ing-Simmons, Kevin J Verstrepen, Santhanam Balaji, M Madan Babu
Proteins with amino acid homorepeats have the potential to be detrimental to cells and are often associated with human diseases. Why, then, are homorepeats prevalent in eukaryotic proteomes? In yeast, homorepeats are enriched in proteins that are essential and pleiotropic and that buffer environmental insults. The presence of homorepeats increases the functional versatility of proteins by mediating protein interactions and facilitating spatial organization in a repeat-dependent manner. During evolution, homorepeats are preferentially retained in proteins with stringent proteostasis, which might minimize repeat-associated detrimental effects such as unregulated phase separation and protein aggregation...
August 14, 2017: Nature Structural & Molecular Biology
https://www.readbyqxmd.com/read/28805618/prenatal-diagnosis-and-molecular-cytogenetic-characterization-of-mosaicism-for-a-small-supernumerary-marker-chromosome-derived-from-chromosome-21q11-2-q21-1-and-a-literature-review
#16
Chih-Ping Chen, Ming Chen, Chia-Hsun Wu, Chen-Ju Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Shun-Ping Chang, Li-Feng Chen, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 21q11.2-q21.1, and we review the literature of an sSMC(21) with a duplication of 21q11.2-q21.1. CASE REPORT: A 40-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XX,+mar [18]/46,XX [4]. The parental karyotypes were normal...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28805451/genetic-characterisation-and-analysis-of-infectious-bronchitis-virus-isolated-from-brazilian-flocks-between-2010-and-2015
#17
Claudia Carranza, Claudete S Astolfi-Ferreira, Silvana H Santander Parra, Luis F N Nuñez, Zoltan Penzes, Jorge L Chacón, Luiz Sesti, Ruy D Chacón, Antonio J Piantino Ferreira
Infectious bronchitis virus (IBV) variants in Brazil were isolated during 2010-2015 for epidemiological and molecular analysis to characterise the different variants and perform a bioinformatic analysis to compare with sequences of variants collected over the previous 40 years. Of the 453 samples examined, 61.4% were positive for IBV and 75.9% of these were considered to have the BR-I genotype and were detected in birds of all ages distributed in all five Brazilian regions. The ratio of non-synonymous substitutions per non-synonymous site (dN) to synonymous substitutions per synonymous site (dS), i...
August 14, 2017: British Poultry Science
https://www.readbyqxmd.com/read/28805308/lymphocyte-profile-and-cytokine-mrna-expression-in-peripheral-blood-mononuclear-cells-of-patients-with-recurrent-respiratory-papillomatosis-suggest-dysregulated-cytokine-mrna-response-and-impaired-cytotoxic-capacity
#18
Anna Holm, Olga Nagaeva, Ivan Nagaev, Christos Loizou, Göran Laurell, Lucia Mincheva-Nilsson, Karin Nylander, Katarina Olofsson
OBJECTIVES: Recurrent respiratory papillomatosis (RRP) is a relatively rare, chronic disease caused by Human Papilloma Virus (HPV) 6 and 11, and characterized by wart-like lesions in the airway affecting voice and respiratory function. The majority of HPV infections are asymptomatic and resolve spontaneously, however, some individuals are afflicted with persistent HPV infections. Failure to eliminate HPV 6 and 11 due to a defect immune responsiveness to these specific genotypes is proposed to play a major role in the development of RRP...
August 14, 2017: Immunity, Inflammation and Disease
https://www.readbyqxmd.com/read/28805163/cryptosporidium-in-fish-alternative-sequencing-approaches-and-analyses-at-multiple-loci-to-resolve-mixed-infections
#19
Andrea Paparini, Rongchang Yang, Linda Chen, Kaising Tong, Susan Gibson-Kueh, Alan Lymbery, Una M Ryan
Currently, the systematics, biology and epidemiology of piscine Cryptosporidium species are poorly understood. Here, we compared Sanger ‒ and next-generation ‒ sequencing (NGS), of piscine Cryptosporidium, at the 18S rRNA and actin genes. The hosts comprised 11 ornamental fish species, spanning four orders and eight families. The objectives were: to (i) confirm the rich genetic diversity of the parasite and the high frequency of mixed infections; and (ii) explore the potential of NGS in the presence of complex genetic mixtures...
August 14, 2017: Parasitology
https://www.readbyqxmd.com/read/28805044/nm%C3%AF-improved-re-implementation-of-nm-a-software-for-estimating-gene-dispersal-and-mating-patterns
#20
Igor J Chybicki
This paper introduces the NMπ computer program designed for estimation of plant mating system and seed and pollen dispersal kernels. NMπ is a re-implementation of the NM+ program and provides new features such as support for multi-core processors, explicit treatment of dioecy, the possibility of incorporating uniparentally cytoplasmic markers, the possibility of assessing assortative mating due to phenotypic similarity and inference about offspring genealogies. The probability model of parentage (the neighborhood model) accounts for missing data and genotyping errors, which can be estimated along with regular parameters of the mating system...
August 14, 2017: Molecular Ecology Resources
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