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https://www.readbyqxmd.com/read/29031157/a-european-multi-centre-external-quality-assessment-eqa-study-on-phenotypic-and-genotypic-methods-used-for-herpes-simplex-virus-hsv-drug-resistance-testing
#1
Baharak Afshar, David F Bibby, Renata Piorkowska, Natasha Ohemeng-Kumi, Robert Snoeck, Graciela Andrei, Sarah Gillemot, Florence Morfin, Emilie Frobert, Sonia Burrel, David Boutolleau, Brendan Crowley, Jean L Mbisa
BACKGROUND: Herpes Simplex Virus (HSV) drug resistance is a significant public health concern among immunocompromised individuals. Phenotypic assays are considered the gold standard method for detecting HSV drug resistance. However, plaque reduction assays (PRAs) are technically demanding, often with long turnaround times of up to four weeks. In contrast, genotypic tests can be performed within a few days. OBJECTIVES: The development and coordination of the first European External Quality Assessment (EQA) study to evaluate phenotypic and genotypic methods used for HSV drug resistance testing in specialised reference laboratories...
October 6, 2017: Journal of Clinical Virology: the Official Publication of the Pan American Society for Clinical Virology
https://www.readbyqxmd.com/read/29031100/discovery-of-a-new-mechanism-for-regulation-of-plant-triacylglycerol-metabolism-the-peanut-diacylglycerol-acyltransferase-1-gene-family-transcriptome-is-highly-enriched-in-alternative-splicing-variants
#2
Ling Zheng, Jay Shockey, Feng Guo, Lingmin Shi, Xinguo Li, Lei Shan, Shubo Wan, Zhenying Peng
Triacylglycerols (TAGs) are the most important energy storage form in oilseed crops. Diacylglycerol acyltransferase (DGAT) catalyzes the rate-limiting step of the Kennedy pathway of TAG biosynthesis. To date, little is known about the regulation of DGAT activity in peanut (Arachis hypogaea), an agronomically important oilseed crop that is cultivated in many parts of the world. In this study, seven distinct forms of type 1 DGAT (AhDGAT1.1-AhDGAT1.7) were identified, cloned, and characterized. Comparisons of the nucleotide sequences and gene structures revealed many different splicing variants of AhDGAT1, some of which displayed different organ-specific expression patterns...
October 6, 2017: Journal of Plant Physiology
https://www.readbyqxmd.com/read/29031061/crassiflorone-derivatives-that-inhibit-trypanosoma-brucei-glyceraldehyde-3-phosphate-dehydrogenase-tbgapdh-and-trypanosoma-cruzi-trypanothione-reductase-tctr-and-display-trypanocidal-activity
#3
Elisa Uliassi, Giulia Fiorani, R Luise Krauth-Siegel, Christian Bergamini, Romana Fato, Giulia Bianchini, J Carlos Menéndez, Maria Teresa Molina, Eulogio López-Montero, Federico Falchi, Andrea Cavalli, Sheraz Gul, Maria Kuzikov, Bernhard Ellinger, Gesa Witt, Carolina B Moraes, Lucio H Freitas-Junior, Chiara Borsari, Maria Paola Costi, Maria Laura Bolognesi
Crassiflorone is a natural product with anti-mycobacterial and anti-gonorrhoeal properties, isolated from the stem bark of the African ebony tree Diospyros crassiflora. We noticed that its pentacyclic core possesses structural resemblance to the quinone-coumarin hybrid 3, which we reported to exhibit a dual-targeted inhibitory profile towards Trypanosoma brucei glyceraldehyde-3-phosphate dehydrogenase (TbGAPDH) and Trypanosoma cruzi trypanothione reductase (TcTR). Following this basic idea, we synthesized a small library of crassiflorone derivatives 15-23 and investigated their potential as anti-trypanosomatid agents...
October 3, 2017: European Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/29029377/gain-of-function-mutations-in-g-protein-coupled-receptor-genes-associated-with-human-endocrine-disorders
#4
REVIEW
Maki Fukami, Erina Suzuki, Maki Igarashi, Mami Miyado, Tsutomu Ogata
The human genome encodes more than 700 G-protein coupled receptors (GPCRs), many of which are involved in hormone secretion. To date, more than 100 gain-of-function (activating) mutations in at least ten genes for GPCRs, in addition to several loss-of-function mutations, have been implicated in human endocrine disorders. Previously reported gain-of-function GPCR mutations comprise various missense substitutions, frameshift mutations, intragenic inframe deletions, and copy-number gains. Such mutations appear in both germline and somatic tumour cells, and lead to various hormonal abnormalities reflecting excessive receptor activity...
October 13, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/29029332/identification-of-a-novel-subset-of-myeloid-derived-suppressor-cells-during-chronic-staphylococcal-infection-that-resembles-immature-eosinophils
#5
Oliver Goldmann, Andreas Beineke, Eva Medina
We have previously reported that myeloid-derived suppressor cells (MDSC), which are a heterogeneous population of immunosuppressive immature myeloid cells, expanded during chronic Staphylococcus aureus infection and promoted bacterial persistence by inhibiting effector T cells. Two major MDSC subsets including monocytic MDSCs (M-MDSC) and granulocytic MDSCs (G-MDSC) have been described to date. Here, we identified a new subset of MDSC (Eo-MDSC) in S. aureus-infected mice that phenotypically resembles eosinophils...
September 23, 2017: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/29029331/the-clinical-utility-of-human-leucocyte-antigen-b27-in-axial-spondyloarthritis
#6
Chong Seng Edwin Lim, Raj Sengupta, Karl Gaffney
The association between HLA-B27 and AS was first established in the early 1970s. Since then, our understanding of this disease has changed, such that we now recognize AS to be the extreme of the clinical phenotype within a disease spectrum known as axial SpA (axSpA). Recent advances in therapeutic options have driven the need for earlier diagnosis and many screening strategies have been proposed to facilitate this. In parallel, our understanding of axSpA genetics, and especially the contribution of HLA-B27, has expanded...
September 25, 2017: Rheumatology
https://www.readbyqxmd.com/read/29029310/fragrance-allergens-linalool-and-limonene-allylic-hydroperoxides-in-skin-allergy-mechanisms-of-action-focusing-on-transcription-factor-nrf2
#7
Chloé Raffalli, Elodie Clouet, Salen Kuresepi, Marie-Hélène Damiens, Jean-Pierre Lepoittevin, Marc Pallardy, Pierre-Jacques Ferret, Elena Giménez-Arnau, Saadia Kerdine-Römer
Allergic contact dermatitis (ACD) is regarded as the most frequent expression of immunotoxicity in humans. Many odorant terpenes commonly used in fragrance compositions are considered as weak skin sensitizers, whereas some of their autoxidation products, allylic hydroperoxides, are classified as strong sensitizers according to the Local Lymph Node Assay (LLNA). However, the mechanism of their effects on the immune system remains unclear. Since dendritic cells play a key role in ACD, we studied their activation by the frequently used linalool (LINA) and limonene (LIMO), and their respective sensitizing allylic hydroperoxides (LINA-OOH, LIMO-OOH)...
September 29, 2017: Toxicological Sciences: An Official Journal of the Society of Toxicology
https://www.readbyqxmd.com/read/29029306/an-assessment-of-phylogenetic-tools-for-analyzing-the-interplay-between-interspecific-interactions-and-phenotypic-evolution
#8
J P Drury, G F Grether, T Garland, H Morlon
Much ecological and evolutionary theory predicts that interspecific interactions often drive phenotypic diversification and that species phenotypes in turn influence species interactions. Several phylogenetic comparative methods have been developed to assess the importance of such processes in nature; however, the statistical properties of these methods have gone largely untested. Focusing mainly on scenarios of competition between closely-related species, we assess the performance of available comparative approaches for analyzing the interplay between interspecific interactions and species phenotypes...
October 4, 2017: Systematic Biology
https://www.readbyqxmd.com/read/29029299/weak-regulation-of-many-targets-is-cumulatively-powerful-an-evolutionary-perspective-on-microrna-functionality
#9
Yixin Zhao, Xu Shen, Tian Tang, Chung-I Wu
Why do microRNAs (miRNAs) weakly repress so many targets such that most targets do not have phenotypic effects? An increasingly accepted view posits that weak targeting has no biological function and each miRNA effectively has only a few functional targets. Here, we review the evolutionary arguments for this postulate and find these arguments seriously flawed. In contrast, from the systems perspective, the power of broad and weak targeting may reside in the cumulative effects of all expressions, which collectively stabilize gene regulatory networks...
September 28, 2017: Molecular Biology and Evolution
https://www.readbyqxmd.com/read/29029297/cytomegalovirus-specific-t-cell-transfer-for-refractory-cytomegalovirus-infection-after-haploidentical-stem-cell-transplantation-the-quantitative-and-qualitative-immune-recovery-for-cytomegalovirus
#10
Xu-Ying Pei, Xiang-Yu Zhao, Ying-Jun Chang, Jing Liu, Lan-Ping Xu, Yu Wang, Xiao-Hui Zhang, Wei Han, Yu-Hong Chen, Xiao-Jun Huang
Background: The efficiency and mechanisms of adoptive transfer of cytomegalovirus (CMV)specific T cells for refractory CMV infection after haploidentical stem cell transplantation (haplo-SCT) remain largely unknown. Methods: Thirty-two patients with refractory CMV infection who accepted treatment with adoptive CMV-specific T-cell infusion following haplo-SCT were prospectively enrolled. Another 32 patients with nonrefractory CMV infection after haplo-SCT were selected as control subjects...
September 23, 2017: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/29029290/nmda-receptor-mediated-ca2-influx-in-the-absence-of-mg2-block-disrupts-rest-activity-rhythms-in-drosophila
#11
Qian Song, Ge Feng, Jiaxing Zhang, Xuechun Xia, Min Ji, Lei Lv, Yong Ping
Introduction: The correlated activation of pre- and postsynaptic neurons is essential for the NMDA receptor-mediated Ca2+ influx by removing Mg2+ from block site and NMDA receptors have been implicated in phase resetting of circadian clocks. So we assessed rest:activity rhythms in Mg2+ block defective animals. Methods: Using Drosophila locomotor monitoring system, we checked circadian rest:activity rhythms of different mutants under constant darkness (DD) and light:dark (LD) conditions...
October 3, 2017: Sleep
https://www.readbyqxmd.com/read/29029274/mutation-driven-parallel-evolution-during-viral-adaptation
#12
Andrew M Sackman, Lindsey W McGee, Anneliese J Morrison, Jessica Pierce, Jeremy Anisman, Hunter Hamilton, Stephanie Sanderbeck, Cayla Newman, Darin R Rokyta
Convergent evolution has been demonstrated across all levels of biological organization, from parallel nucleotide substitutions to convergent evolution of complex phenotypes, but whether instances of convergence are the result of selection repeatedly finding the same optimal solution to a recurring problem or are the product of mutational biases remains unsettled. We generated 20 replicate lineages allowed to fix a single mutation from each of four bacteriophage genotypes under identical selective regimes to test for parallel changes within and across genotypes at the levels of mutational effect distributions and gene, protein, amino acid, and nucleotide changes...
September 27, 2017: Molecular Biology and Evolution
https://www.readbyqxmd.com/read/29029263/role-of-stat3-in-skin-fibrosis-and-transforming-growth-factor-beta-signalling
#13
Mesias Pedroza, Sarah To, Shervin Assassi, Minghua Wu, David Tweardy, Sandeep K Agarwal
Objective: SSc is an autoimmune disease characterized by progressive fibrosis of the skin and internal organs. IL-6 and related cytokines that signal through STAT3 have been implicated in the pathogenesis of SSc and mouse models of fibrosis. The aim of this study was to investigate the efficacy of inhibiting STAT3 in the development of fibrosis in two mouse models of skin fibrosis. Methods: Biopsy samples of skin from SSc patients and healthy control subjects were used to determine the expression pattern of phosphotyrosyl (pY705)-STAT3...
September 23, 2017: Rheumatology
https://www.readbyqxmd.com/read/29029252/time-on-task-effect-during-sleep-deprivation-in-healthy-young-adults-is-modulated-by-dopamine-transporter-genotype
#14
Brieann C Satterfield, Jonathan P Wisor, Michelle A Schmidt, Hans P A Van Dongen
Study Objectives: The time-on-task (TOT) effect and total sleep deprivation (TSD) have similar effects on neurobehavioral functioning, including increased performance instability during tasks requiring sustained attention. The TOT effect is exacerbated by TSD, suggesting potentially overlapping mechanisms. We probed these mechanisms by investigating genotype-phenotype relationships on psychomotor vigilance test (PVT) performance for three a-priori selected genes previously linked to the TOT effect and/or TSD: DAT1, COMT, and TNFα...
October 4, 2017: Sleep
https://www.readbyqxmd.com/read/29029226/new-insights-into-the-genetic-basis-of-monge-s-disease-and-adaptation-to-high-altitude
#15
Tsering Stobdan, Ali Akbari, Priti Azad, Dan Zhou, Orit Poulsen, Otto Appenzeller, Gustavo F Gonzales, Amalio Telenti, Emily H M Wong, Shubham Saini, Ewen F Kirkness, J Craig Venter, Vineet Bafna, Gabriel G Haddad
Human high-altitude (HA) adaptation or mal-adaptation is explored to understand the physiology, pathophysiology and molecular mechanisms that underlie long-term exposure to hypoxia. Here we report the results of an analysis of the largest whole-genome-sequencing of Chronic Mountain Sickness (CMS) and non-CMS individuals, identified candidate genes and functionally validated these candidates in a genetic model system (Drosophila). We used PreCIOSS algorithm that uses Haplotype Allele Frequency score to separate haplotypes carrying the favored allele from the non-carriers and accordingly prioritize genes associated with the CMS or non-CMS phenotype...
September 19, 2017: Molecular Biology and Evolution
https://www.readbyqxmd.com/read/29029198/different-genomic-changes-underlie-adaptive-evolution-in-populations-of-contrasting-history
#16
S G Seabra, I Fragata, M A Antunes, G S Faria, M A Santos, V C Sousa, P Simões, M Matos
Experimental evolution is a powerful tool to understand the adaptive potential of populations under environmental change. Here, we study the importance of the historical genetic background in the outcome of evolution at the genome-wide level. Using the natural clinal variation of Drosophila subobscura, we sampled populations from two contrasting latitudes (Adraga, Portugal and Groningen, Netherlands) and introduced them in a new common environment in the laboratory. We characterized the genome-wide temporal changes underlying the evolutionary dynamics of these populations, which had previously shown fast convergence at the phenotypic level, but not at chromosomal inversion frequencies...
September 18, 2017: Molecular Biology and Evolution
https://www.readbyqxmd.com/read/29029152/surgical-treatment-in-childhood-onset-inflammatory-bowel-disease-a-nationwide-register-based-study-of-4-695-incident-patients-in-sweden-2002-2014
#17
Caroline Nordenvall, Oda Rosvall, Matteo Bottai, Åsa H Everhov, Petter Malmborg, Karin E Smedby, Anders Ekbom, Johan Askling, Jonas F Ludvigsson, Pär Myrelid, Ola Olén
Background and Aims: The incidence of childhood-onset (<18 years) inflammatory bowel disease is increasing worldwide, and some studies suggest that it represents a more severe disease phenotype. Few nationwide, population-based studies have evaluated the surgical burden in patients with childhood-onset IBD, and whether the improved medical treatment has influenced the need for gastrointestinal surgery. The aim was to examine whether the surgical treatment at any age of patients with childhood-onset IBD has changed over time...
September 27, 2017: Journal of Crohn's & Colitis
https://www.readbyqxmd.com/read/29029121/clinical-heterogeneity-and-phenotypic-expansion-of-napi-iia-associated-disease
#18
Korcan Demir, Melek Yildiz, Hilla Bahat, Michael Goldman, Nisreen Hassan, Shay Tzur, Ayala Ofir, Daniella Magen
Context: NaPi-IIa, encoded by SLC34A1 is a key phosphate transporter in the mammalian proximal tubule, and plays a cardinal role in renal phosphate handling. NaPi-IIa impairment has been linked to various overlapping clinical syndromes, including hypophosphatemic nephrolithiasis with osteoporosis, renal Fanconi's syndrome with chronic kidney disease, and most recently, with idiopathic infantile hypercalcemia and nephrocalcinosis. Objectives: We studied the molecular basis of idiopathic infantile hypercalcemia with partial proximal tubulopathy in two apparently unrelated patients of Israeli and Turkish descent...
September 29, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29029098/genital-granulomatosis-in-male-and-female-patients-with-crohn-s-disease-clinical-presentation-and-treatment-outcomes
#19
F Dederichs, I Iesalnieks, M Sladek, Ch Tzivinikos, R Hansen, C Muñoz, P Pavli, M N Cavicchi, V Abitbol, J-F Rahier, S R Vavricka, K Katsanos, E Domènech
Background: Genital granulomatosis (GG) is a metastatic form of Crohn's Disease (CD), characterized by granulomatous inflammation of the genital skin without contact to the gastrointestinal tract. Little is known about GG as most publications are case reports or small series, and only sporadic in male cases. Methods and Aims: Cases of GG were retrospectively collected through the Collaborative Network For Exceptionally Rare case reports project of the European Crohn´s and Colitis Organization...
September 27, 2017: Journal of Crohn's & Colitis
https://www.readbyqxmd.com/read/29029094/thyroid-hormone-metabolism-defects-in-a-mouse-model-of-sbp2-deficiency
#20
Jiao Fu, Haruki Fujisawa, Benjamin Follman, Xiao-Hui Liao, Alexandra M Dumitrescu
SBP2 (selenocysteine insertion sequence binding protein 2) is an essential factor in selenoprotein synthesis. Patients with SBP2 defects have a characteristic thyroid phenotype and additional manifestations such as growth delay, male infertility, impaired motor coordination and developmental delay. The thyroid phenotype has become pathognomonic for this defect and putative deficiencies in the iodothyronine deiodinases selenoenzymes have been implicated. To investigate the role of SBP2 and selenoproteins in thyroid physiology and answer questions raised by the human syndrome we generated a tamoxifen inducible Sbp2 conditional knockout (iCKO) mouse model...
September 28, 2017: Endocrinology
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