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https://www.readbyqxmd.com/read/28934385/hearing-loss-without-overt-metabolic-acidosis-in-atp6v1b1-deficient-mrl-mice-a-new-genetic-model-for-non-syndromic-deafness-with-enlarged-vestibular-aqueducts
#1
Cong Tian, Leona H Gagnon, Chantal Longo-Guess, Ron Korstanje, Susan M Sheehan, Kevin K Ohlemiller, Angela D Schrader, Jaclynn M Lett, Kenneth R Johnson
Mutations of the human ATP6V1B1 gene cause distal renal tubular acidosis (dRTA; OMIM #267300) often associated with sensorineural hearing impairment; however, mice with a knockout mutation of Atp6v1b1 were reported to exhibit a compensated acidosis and normal hearing. We discovered a new spontaneous mutation (vortex, symbol vtx) of Atp6v1b1 in an MRL/MpJ (MRL) colony of mice. In contrast to the reported phenotype of the knockout mouse, which was developed on a primarily C57BL/6 (B6) strain background, MRL-Atp6v1b1vtx/vtx mutant mice exhibit profound hearing impairment, which is associated with enlarged endolymphatic compartments of the inner ear...
October 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28933365/milk-s-role-as-an-epigenetic-regulator-in-health-and-disease
#2
REVIEW
Bodo C Melnik, Gerd Schmitz
It is the intention of this review to characterize milk's role as an epigenetic regulator in health and disease. Based on translational research, we identify milk as a major epigenetic modulator of gene expression of the milk recipient. Milk is presented as an epigenetic "doping system" of mammalian development. Milk exosome-derived micro-ribonucleic acids (miRNAs) that target DNA methyltransferases are implicated to play the key role in the upregulation of developmental genes such as FTO, INS, and IGF1. In contrast to miRNA-deficient infant formula, breastfeeding via physiological miRNA transfer provides the appropriate signals for adequate epigenetic programming of the newborn infant...
March 15, 2017: Diseases (Basel)
https://www.readbyqxmd.com/read/28932778/data-on-the-density-of-xanthophores-in-a-whole-scale-of-goldfish-acclimated-to-white-or-black-background-color
#3
Kanta Mizusawa, Yutaka Yamamura, Satoshi Kasagi, José Miguel Cerdá-Reverter, Akiyoshi Takahashi
The data presented in this article are related to the research article entitled "Expression of genes for melanotropic peptides and their receptors for morphological color change in goldfish Carassius auratus" (Mizusawa et al., In press) [1]. This article describes data on the density of xanthophores in the scales of goldfish acclimated to white or black background color. To determine the effects of acclimation history during long-term background color adaptation, fish were transferred from a white tank to a white or black tank and vice versa halfway through the acclimation process...
October 2017: Data in Brief
https://www.readbyqxmd.com/read/28932756/non-clinical-safety-and-efficacy-of-an-aav2-8-vector-administered-intravenously-for-treatment-of-mucopolysaccharidosis-type-vi
#4
Rita Ferla, Marialuisa Alliegro, Jean-Brice Marteau, Margherita Dell'Anno, Edoardo Nusco, Severine Pouillot, Stefania Galimberti, Maria Grazia Valsecchi, Vincent Zuliani, Alberto Auricchio
In vivo gene therapy with adeno-associated viral (AAV) vectors is safe and effective in humans. We recently demonstrated that AAV8-mediated liver gene transfer is effective in animal models of mucopolysaccharidosis type VI (MPS VI), a rare lysosomal storage disease that is caused by arylsulfatase B (ARSB) deficiency. In preparing for a first-in-human trial, we performed non-clinical studies to assess the safety of intravenous administrations of AAV2/8.TBG.hARSB produced under good manufacturing practice-like conditions...
September 15, 2017: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/28932624/staphylococci-on-ice-overlooked-agents-of-horizontal-gene-transfer
#5
REVIEW
Emily A Sansevere, D Ashley Robinson
Horizontal gene transfer plays a significant role in spreading antimicrobial resistance and virulence genes throughout the genus Staphylococcus, which includes species of clinical relevance to humans and animals. While phages and plasmids are the most well-studied agents of horizontal gene transfer in staphylococci, the contribution of integrative conjugative elements (ICEs) has been mostly overlooked. Experimental work demonstrating the activity of ICEs in staphylococci remained frozen for years after initial work in the 1980s that showed Tn916 was capable of transfer from Enterococcus to Staphylococcus...
2017: Mobile Genetic Elements
https://www.readbyqxmd.com/read/28932232/re-analyses-of-algal-genes-suggest-a-complex-evolutionary-history-of-oomycetes
#6
Qia Wang, Hang Sun, Jinling Huang
The spread of photosynthesis is one of the most important but constantly debated topics in eukaryotic evolution. Various hypotheses have been proposed to explain the plastid distribution in extant eukaryotes. Notably, the chromalveolate hypothesis suggested that multiple eukaryotic lineages were derived from a photosynthetic ancestor that had a red algal endosymbiont. As such, genes of plastid/algal origin in aplastidic chromalveolates, such as oomycetes, were considered to be important supporting evidence...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28932231/addition-of-aegilops-u-and-m-chromosomes-affects-protein-and-dietary-fiber-content-of-wholemeal-wheat-flour
#7
Marianna Rakszegi, István Molnár, Alison Lovegrove, Éva Darkó, András Farkas, László Láng, Zoltán Bedő, Jaroslav Doležel, Márta Molnár-Láng, Peter Shewry
Cereal grain fiber is an important health-promoting component in the human diet. One option to improve dietary fiber content and composition in wheat is to introduce genes from its wild relatives Aegilops biuncialis and Aegilops geniculata. This study showed that the addition of chromosomes 2U(g), 4U(g), 5U(g), 7U(g), 2M(g), 5M(g), and 7M(g) of Ae. geniculata and 3U(b), 2M(b), 3M(b), and 7M(b) of Ae. biuncialis into bread wheat increased the seed protein content. Chromosomes 1U(g) and 1M(g) increased the proportion of polymeric glutenin proteins, while the addition of chromosomes 1U(b) and 6U(b) led to its decrease...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28932220/chalcone-attenuates-staphylococcus-aureus-virulence-by-targeting-sortase-a-and-alpha-hemolysin
#8
Bing Zhang, Zihao Teng, Xianhe Li, Gejin Lu, Xuming Deng, Xiaodi Niu, Jianfeng Wang
Staphylococcus aureus (S.aureus) resistance, considered a dilemma for the clinical treatment of this bacterial infection, is becoming increasingly intractable. Novel anti-virulence strategies will undoubtedly provide a path forward in combating these resistant bacterial infections. Sortase A (SrtA), an enzyme responsible for anchoring virulence-related surface proteins, and alpha-hemolysin (Hla), a pore-forming cytotoxin, have aroused great scientific interest, as they have been regarded as targets for promising agents against S...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28932207/model-based-magnetization-transfer-imaging-markers-to-characterize-patients-and-asymptomatic-gene-carriers-in-huntington-s-disease
#9
Roland Wiest, Jean-Marc Burgunder, Claus Kiefer
BACKGROUND AND PURPOSE: Huntington's disease (HD) is a chronic progressive neurodegenerative disorder with a long presymptomatic period that opens a window for potential therapies aimed at neuroprotection. Neuroimaging offers the potential to monitor disease-related progression of the disease burden (DB) using model-based magnetization transfer imaging. MATERIALS AND METHODS: We have conducted a cross-sectional study to stratify healthy age-matched controls, premanifest and symptomatic HD patients (n = 30) according to their macromolecular depositions in the caudate nucleus...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28932107/bioinformatics-study-of-m-9053g-a-mutation-at-the-atp6-gene-in-relation-to-type-2-diabetes-mellitus-and-cataract-diseases
#10
Iman Permana Maksum, Sandy Risfi Saputra, Nenden Indrayati, Muhammad Yusuf, Toto Subroto
The mitochondrial disease often associated with various illnesses in relation to the activity of cells metabolites and the synthesis of adenosine triphosphate (ATP), including alteration in the mitochondrial DNA. The mutation of m.9053G>A at the ATP6 gene was found in patients with type 2 diabetes mellitus (DM type 2) and cataract. Therefore, this mutation is predicted to be clinical features of the 2 diseases. ATP6 gene encodes protein subunit of ATPase6, a part of ATP synthase, which is important in the electron transfer and proton translocation in intracellular respiration system...
2017: Bioinformatics and Biology Insights
https://www.readbyqxmd.com/read/28932060/synophrys-epidemiological-study
#11
Pramod Kumar
INTRODUCTION: Fusion of eyebrows above the bridge of nose is known as synophrys and is a normal variation. This variation is also recognized as a clinical feature of several genetic disorders, Cornelia De Lange syndrome being the commonest. Several studies, on aesthetics of face and eyebrows have been conducted, also on the role of eyebrows in emotional expression and nonverbal communication. A recent study has pointed a gene associated with synophrys. Surprisingly, however synophrys and its prevalence in the normal population is not known thus we conducted a study of its prevalence in Oman...
July 2017: International Journal of Trichology
https://www.readbyqxmd.com/read/28931691/vertical-transmission-of-hepatitis-c-virus-variable-transmission-bottleneck-and-evidence-of-mid-gestation-in-utero-infection
#12
Sébastien Fauteux-Daniel, Ariane Larouche, Virginie Calderon, Jonathan Boulais, Chanel Béland, Doris G Ransy, Marc Boucher, Valérie Lamarre, Normand Lapointe, Isabelle Boucoiran, Armelle Le Campion, Hugo Soudeyns
Hepatitis C virus (HCV) can be transmitted from mother to child during pregnancy and childbirth. However, the timing and precise biologic mechanisms that are involved in this process are incompletely understood, as are the determinants that influence transmission of particular HCV variants. Here we report results of a longitudinal assessment of HCV quasispecies diversity and composition in 5 cases of vertical HCV transmission, including 3 women coinfected with HIV-1. The population structure of HCV variant spectra based on E2 envelope gene sequences (nucleotide positions 1491-1787), including hypervariable regions 1 and 2, was characterized using next-generation sequencing and median joining network analysis...
September 20, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28931657/neutrophil-transfer-of-mir-223-to-lung-epithelial-cells-dampens-acute-lung-injury-in-mice
#13
Viola Neudecker, Kelley S Brodsky, Eric T Clambey, Eric P Schmidt, Thomas A Packard, Bennett Davenport, Theodore J Standiford, Tingting Weng, Ashley A Fletcher, Lea Barthel, Joanne C Masterson, Glenn T Furuta, Chunyan Cai, Michael R Blackburn, Adit A Ginde, Michael W Graner, William J Janssen, Rachel L Zemans, Christopher M Evans, Ellen L Burnham, Dirk Homann, Marc Moss, Simone Kreth, Kai Zacharowski, Peter M Henson, Holger K Eltzschig
Intercellular transfer of microRNAs can mediate communication between critical effector cells. We hypothesized that transfer of neutrophil-derived microRNAs to pulmonary epithelial cells could alter mucosal gene expression during acute lung injury. Pulmonary-epithelial microRNA profiling during coculture of alveolar epithelial cells with polymorphonuclear neutrophils (PMNs) revealed a selective increase in lung epithelial cell expression of microRNA-223 (miR-223). Analysis of PMN-derived supernatants showed activation-dependent release of miR-223 and subsequent transfer to alveolar epithelial cells during coculture in vitro or after ventilator-induced acute lung injury in mice...
September 20, 2017: Science Translational Medicine
https://www.readbyqxmd.com/read/28931413/topological-organization-and-dynamic-regulation-of-human-trna-genes-during-macrophage-differentiation
#14
Kevin Van Bortle, Douglas H Phanstiel, Michael P Snyder
BACKGROUND: The human genome is hierarchically organized into local and long-range structures that help shape cell-type-specific transcription patterns. Transfer RNA (tRNA) genes (tDNAs), which are transcribed by RNA polymerase III (RNAPIII) and encode RNA molecules responsible for translation, are dispersed throughout the genome and, in many cases, linearly organized into genomic clusters with other tDNAs. Whether the location and three-dimensional organization of tDNAs contribute to the activity of these genes has remained difficult to address, due in part to unique challenges related to tRNA sequencing...
September 20, 2017: Genome Biology
https://www.readbyqxmd.com/read/28931158/new-mitogenomes-of-two-chinese-stag-beetles-coleoptera-lucanidae-and-their-implications-for-systematics
#15
Zi-Qi Lin, Fan Song, Teng Li, Yuan-Yuan Wu, Xia Wan
Although conspicuous and well-studied, stag beetles have been slow to join the genomic era. In this study, mitochondrial genomes of two stag beetles, Sinodendron yunnanense and Prosopocoilus confucius, are sequenced for the first time. Both of their genomes consisted of 13 protein-coding genes (PCGs), 22 transfer RNA genes (tRNAs), 2 ribosomal RNAs (rRNAs), and a control region. The mitogenome of S. yunnanense was 16,921 bp in length, and P. confucius was 16,951 bp. The location of the gene trnL(UUR), between the A + T-rich and control region in S...
January 1, 2017: Journal of Insect Science
https://www.readbyqxmd.com/read/28930172/rhein-induces-oxidative-stress-and-apoptosis-in-mouse-blastocysts-and-has-immunotoxic-effects-during-embryonic-development
#16
Chien-Hsun Huang, Wen-Hsiung Chan
Rhein, a glucoside chemical compound found in a traditional Chinese medicine derived from the roots of rhubarb, induces cell apoptosis and is considered to have high potential as an antitumor drug. Several previous studies showed that rhein can inhibit cell proliferation and trigger mitochondria-related or endoplasmic reticulum (ER) stress-dependent apoptotic processes. However, the side effects of rhein on pre- and post-implantation embryonic development remain unclear. Here, we show that rhein has cytotoxic effects on blastocyst-stage mouse embryos and induces oxidative stress and immunotoxicity in mouse fetuses...
September 20, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28930153/selective-hdl-raising-human-apo-a-i-gene-therapy-counteracts-cardiac-hypertrophy-reduces-myocardial-fibrosis-and-improves-cardiac-function-in-mice-with-chronic-pressure-overload
#17
Ruhul Amin, Ilayaraja Muthuramu, Joseph Pierre Aboumsallem, Mudit Mishra, Frank Jacobs, Bart De Geest
Epidemiological studies support an independent inverse association between high-density lipoprotein (HDL) cholesterol levels and heart failure incidence. The effect of selective HDL-raising adeno-associated viral serotype 8-human apolipoprotein (apo) A-I (AAV8-A-I) gene transfer on cardiac remodeling induced by transverse aortic constriction (TAC) was evaluated in C57BL/6 low-density lipoprotein receptor-deficient mice. Septal wall thickness and cardiomyocyte cross-sectional area were reduced by 16.5% (p < 0...
September 20, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28930090/biomimetic-matrix-fabricated-by-lmp-1-gene-transduced-mc3t3-e1-cells-for-bone-regeneration
#18
Junxuan Ma, Wei Guo, Manman Gao, Baoding Huang, Qihua Qi, Zemin Ling, Yan Chen, Hao Hu, Hailian Zhou, Fei Yu, Ke Chen, Zhiyu Zhou, Deming Xiao, Xuenong Zou
Bone healing is regulated by multiple microenvironmental signals provided by the extracellular matrix (ECM). The study aimed to mimic native osteoinductive microenvironment by developing an ECM using gene-transduced cells. LIM mineralization protein-1 (LMP-1) gene was transferred to the murine pre-osteoblast cells (MC3T3-E1) using lentiviral vectors. Western blotting essay indicated that the MC3T3-E1 cells expressed an increased level of bone morphologic protein-2, -4 and-7 (BMP-2, -4 and -7) after LMP-1 gene transduction...
September 20, 2017: Biofabrication
https://www.readbyqxmd.com/read/28929968/c-state-an-interactive-web-app-for-simultaneous-multi-gene-visualization-and-comparative-epigenetic-pattern-search
#19
Divya Tej Sowpati, Surabhi Srivastava, Jyotsna Dhawan, Rakesh K Mishra
BACKGROUND: Comparative epigenomic analysis across multiple genes presents a bottleneck for bench biologists working with NGS data. Despite the development of standardized peak analysis algorithms, the identification of novel epigenetic patterns and their visualization across gene subsets remains a challenge. RESULTS: We developed a fast and interactive web app, C-State (Chromatin-State), to query and plot chromatin landscapes across multiple loci and cell types...
September 13, 2017: BMC Bioinformatics
https://www.readbyqxmd.com/read/28929967/-results-of-a-multicenter-study-investigating-plasmid-mediated-colistin-resistance-genes-mcr-1-and-mcr-2-in-clinical-enterobacteriaceae-%C3%A4-solates-from-turkey
#20
Ayşe Nur Sarı, Serap Süzük, Onur Karatuna, Dilara Öğünç, Ayşe Esra Karakoç, Zeynep Çizmeci, Hikmet Eda Alışkan, Füsun Cömert, Mustafa Zahir Bakıcı, Nezahat Akpolat, Fatma Feriha Çilli, Yasemin Zer, Aysel Karataş, Bahar Akgün Karapınar, Gülçin Bayramoğlu, Melda Özdamar, Fatma Kalem, Nuran Delialioğlu, Elif Aktaş, Nisel Yılmaz, Şaban Gürcan, Zeynep Gülay
Colistin is a polymyxin antibiotic which is considered as one of the last line agents against infections due to multidrug resistant or carbapenem resistant gram-negative pathogens. Colistin resistance is associated with chromosomal alterations which can usually cause mutations in genes coding specific two component regulator systems. The first plasmid-mediated colistin resistance gene, mcr-1 was described in Escherichia coli and Klebsiella pneumoniae isolates in December 2015 and followed by another plasmid-mediated colistin resistance gene mcr-2 in 2016...
July 2017: Mikrobiyoloji Bülteni
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