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https://www.readbyqxmd.com/read/27922244/a-novel-de-novo-mutation-involving-the-mll2-gene-in-a-kabuki-syndrome-patient-presenting-with-seizures
#1
Can Ebru Bekircan-Kurt, Pelin Özlem Şimşek-Kiper, Koray Boduroğlu, Neşe Dericioğlu
Kabuki syndrome is a rare multiple congenital anomaly disorder. Although mental retardation is one of the main features, various neurological symptoms such as hypotonia and seizures can occur. Here we report on a 18-year-old Turkish male patient who was diagnosed previously as Kabuki syndrome. Molecular genetic analysis showed a novel de novo heterozygous mutation (c.12964C > T [p.Gln4322*] ) in the MLL2 gene, that leads to the synthesis of a truncated protein. The aim of the present report is to increase the awareness of Kabuki Syndrome among adult neurologists and to present a previously unreported non-sense mutation in the MLL2 gene...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27922179/a-carbon-dioxide-stripping-model-for-mammalian-cell-culture-in-manufacturing-scale-bioreactors
#2
Zizhuo Xing, Amanda M Lewis, Michael C Borys, Zheng Jian Li
Control of carbon dioxide within the optimum range is important in mammalian bioprocesses at the manufacturing scale in order to ensure robust cell growth, high protein yields, and consistent quality attributes. The majority of bioprocess development work is done in laboratory bioreactors, in which carbon dioxide levels are more easily controlled. Some challenges in carbon dioxide control can present themselves when cell culture processes are scaled up, because carbon dioxide accumulation is a common feature due to longer gas-residence time of mammalian cell culture in large scale bioreactors...
December 6, 2016: Biotechnology and Bioengineering
https://www.readbyqxmd.com/read/27922098/comparison-of-432-pseudomonas-strains-through-integration-of-genomic-functional-metabolic-and-expression-data
#3
Jasper J Koehorst, Jesse C J van Dam, Ruben G A van Heck, Edoardo Saccenti, Vitor A P Martins Dos Santos, Maria Suarez-Diez, Peter J Schaap
Pseudomonas is a highly versatile genus containing species that can be harmful to humans and plants while others are widely used for bioengineering and bioremediation. We analysed 432 sequenced Pseudomonas strains by integrating results from a large scale functional comparison using protein domains with data from six metabolic models, nearly a thousand transcriptome measurements and four large scale transposon mutagenesis experiments. Through heterogeneous data integration we linked gene essentiality, persistence and expression variability...
December 6, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27922085/diversity-of-major-urinary-proteins-mups-in-wild-house-mice
#4
Michaela Thoß, Viktoria Enk, Hans Yu, Ingrid Miller, Kenneth C Luzynski, Boglarka Balint, Steve Smith, Ebrahim Razzazi-Fazeli, Dustin J Penn
Major urinary proteins (MUPs) are often suggested to be highly polymorphic, and thereby provide unique chemical signatures used for individual and genetic kin recognition; however, studies on MUP variability have been lacking. We surveyed populations of wild house mice (Mus musculus musculus), and examined variation of MUP genes and proteins. We sequenced several Mup genes (9 to 11 loci) and unexpectedly found no inter-individual variation. We also found that microsatellite markers inside the MUP cluster show remarkably low levels of allelic diversity, and significantly lower than the diversity of markers flanking the cluster or other markers in the genome...
December 6, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27922008/defining-functional-interactions-during-biogenesis-of-epithelial-junctions
#5
J C Erasmus, S Bruche, L Pizarro, N Maimari, T Pogglioli, C Tomlinson, J Lees, I Zalivina, A Wheeler, A Alberts, A Russo, V M M Braga
In spite of extensive recent progress, a comprehensive understanding of how actin cytoskeleton remodelling supports stable junctions remains to be established. Here we design a platform that integrates actin functions with optimized phenotypic clustering and identify new cytoskeletal proteins, their functional hierarchy and pathways that modulate E-cadherin adhesion. Depletion of EEF1A, an actin bundling protein, increases E-cadherin levels at junctions without a corresponding reinforcement of cell-cell contacts...
December 6, 2016: Nature Communications
https://www.readbyqxmd.com/read/27922005/wrn-regulates-pathway-choice-between-classical-and-alternative-non-homologous-end-joining
#6
Raghavendra A Shamanna, Huiming Lu, Jessica K de Freitas, Jane Tian, Deborah L Croteau, Vilhelm A Bohr
Werner syndrome (WS) is an accelerated ageing disorder with genomic instability caused by WRN protein deficiency. Many features seen in WS can be explained by the diverse functions of WRN in DNA metabolism. However, the origin of the large genomic deletions and telomere fusions are not yet understood. Here, we report that WRN regulates the pathway choice between classical (c)- and alternative (alt)-nonhomologous end joining (NHEJ) during DNA double-strand break (DSB) repair. It promotes c-NHEJ via helicase and exonuclease activities and inhibits alt-NHEJ using non-enzymatic functions...
December 6, 2016: Nature Communications
https://www.readbyqxmd.com/read/27921411/association-of-cd46-ivs1-1724-c-g-single-nucleotide-polymorphism-in-iranian-women-with-unexplained-recurrent-spontaneous-abortion-ursa
#7
Shiva Abdi-Shayan, Amir Monfaredan, Zahra Moradi, Mehrangiz Rajaii Oskoui, Tohid Kazemi
There are several known and unknown factors for unexplained recurrent spontaneous abortion (URSA). Among them, complement regulatory protein CD46 plays a pivotal role in preventing uncontrolled activation of complement and successful continuation of pregnancy. We aimed in this study to investigate the possible association of CD46 IVS1-1724 C>G polymorphism with RSA in Iranian women. 141 women with RSA and 153 women with normal pregnancy were enrolled in this study. RSA was confirmed as the history of having at least three consecutive abortions without any known immunologic, pathologic and genetic reason...
August 2016: Iranian Journal of Allergy, Asthma, and Immunology
https://www.readbyqxmd.com/read/27921405/thrombolytic-therapy-up-regulates-inflammatory-mediators-compared-to-percutaneous-coronary-intervention-pci
#8
Alireza Garjani, Bahram Sohrabi, Ali Akbar Movassaghpour, Sina Andalib, Mehriar Shokri, Bahar Taherkhanchi, Bahador Bagheri
The important role of reperfusion therapies in the treatment of acute myocardial infarction is well documented. However, reperfusion therapies can initiate inflammatory response and may damage the myocardium. The purpose of current study was to compare the effects of percutaneous coronary intervention and thrombolytic therapy on inflammatory markers in the setting of ST elevation myocardial infarction (STEMI). Eighty three patients with STEMI were enrolled in this study. 40 patients underwent percutaneous coronary intervention (PCI), and 43 patients received streptokinase (1...
August 2016: Iranian Journal of Allergy, Asthma, and Immunology
https://www.readbyqxmd.com/read/27921402/developing-a-rat-model-of-dilated-cardiomyopathy-with-improved-survival
#9
Li-Juan Shen, Shu Lu, Yong-Hua Zhou, Lan Li, Qing-Min Xing, Yong-Liang Xu
To compare the continuous infusion and intermittent bolus injection administration protocols of doxorubicin (Dox) under the same cumulative dose (12 mg/kg), and establish a rat dilated cardiomyopathy model with improved survival, a total of 150 Sprague-Dawley (SD) rats were divided into three groups: a control group, administered with normal saline; a Dox 1 group, administration twice a week at 1 mg/kg; a Dox 2, administration once a week at 2 mg/kg. Mortality rates in the Dox 1 and Dox 2 groups were 22% and 48%, respectively (P<0...
2016: Journal of Zhejiang University. Science. B
https://www.readbyqxmd.com/read/27921358/low-methoxyl-lemon-pectin-attenuates-inflammatory-responses-and-improves-intestinal-barrier-integrity-in-caerulein-induced-experimental-acute-pancreatitis
#10
Yajun Sun, Yue He, Fei Wang, Hao Zhang, Paul de Vos, Jia Sun
SCOPE: Acute pancreatitis (AP) is a common clinical acute abdominal disease. The intestinal injury associated with AP will aggravate the condition retroactively. This study investigates whether the low-methoxyl pectin (LMP) isolated from lemon could attenuate AP and associated intestinal injury. METHODS AND RESULTS: Experimental AP was induced in BALB/c mice by caerulien (CAE) hyperstimulation. Nutritional prophylactic group was pre-fed with 5% LMP supplemented forage three days before AP induction...
December 6, 2016: Molecular Nutrition & Food Research
https://www.readbyqxmd.com/read/27921343/complete-genome-sequence-of-streptococcus-troglodytae-tku31-isolated-from-an-oral-cavity-of-chimpanzee-pan-troglodytes
#11
Masaaki Okamoto, Mariko Naito, Mayu Miyanohara, Susumu Imai, Yoshiaki Nomura, Wataru Saito, Yasuko Momoi, Kazuko Takada, Takako Miyabe-Nishiwaki, Masaki Tomonaga, Nobuhiro Hanada
Streptococcus troglodytae TKU31 was isolated from an oral cavity of chimpanzee (Pan troglodytes), and it is the most closely related species to Streptococcus mutans among the mutans group streptococci. The complete sequence of TKU31 genome consisted of a single circular chromosome that was 2,097,874 base pairs in length, with a G + C content of 37.18%. It possessed a total of 2,082 coding sequences (CDSs), 65 tRNAs and five rRNA operons (15 rRNAs). Two clustered regularly interspaced short palindromic repeats (CRISPRs), six insertion sequences (IS) and two predicted prophage elements were identified...
December 6, 2016: Microbiology and Immunology
https://www.readbyqxmd.com/read/27921303/eosinophils-from-eosinophilic-oesophagitis-patients-have-t-cell-suppressive-capacity-and-express-foxp3
#12
C Lingblom, J Wallander, M Ingelsten, H Bergquist, M Bove, R Saalman, A Welin, C Wennerås
Eosinophilic esophagitis (EoE) is an antigen-driven T cell-mediated chronic inflammatory disease where food and environmental antigens are thought to have a role. Human eosinophils express the immunoregulatory protein galectin-10 and have T cell suppressive capacity similar to regulatory T cells (Tregs ). We hypothesized that one function of eosinophils in EoE might be to regulate the T cell-driven inflammation in the oesophagus. This was tested by evaluating the suppressive capacity of eosinophils isolated from the blood of adult EoE patients in a mixed lymphocyte reaction...
November 5, 2016: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/27921261/attempting-to-compensate-for-reduced-neuronal-nitric-oxide-synthase-protein-with-nitrate-supplementation-cannot-overcome-metabolic-dysfunction-but-rather-has-detrimental-effects-in-dystrophin-deficient-mdx-muscle
#13
Cara A Timpani, Adam J Trewin, Vanesa Stojanovska, Ainsley Robinson, Craig A Goodman, Kulmira Nurgali, Andrew C Betik, Nigel Stepto, Alan Hayes, Glenn K McConell, Emma Rybalka
Duchenne muscular dystrophy arises from the loss of dystrophin and is characterized by calcium dysregulation, muscular atrophy, and metabolic dysfunction. The secondary reduction of neuronal nitric oxide synthase (nNOS) from the sarcolemma reduces NO production and bioavailability. As NO modulates glucose uptake, metabolism, and mitochondrial bioenergetics, we investigated whether an 8-week nitrate supplementation regimen could overcome metabolic dysfunction in the mdx mouse. Dystrophin-positive control (C57BL/10) and dystrophin-deficient mdx mice were supplemented with sodium nitrate (85 mg/l) in drinking water...
December 5, 2016: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/27921220/increased-cell-free-mitochondrial-dna-is-a-marker-of-ongoing-inflammation-and-better-neurocognitive-function-in-virologically-suppressed-hiv-infected-individuals
#14
Josué Pérez-Santiago, Michelli F De Oliveira, Susanna R Var, Tyler R C Day, Steven P Woods, Sara Gianella, Sanjay R Mehta
Cell-free mitochondrial DNA (mtDNA) is a highly immunogenic molecule that is associated with several inflammatory conditions and with neurocognitive impairment during untreated HIV infection. Here, we investigate how cell-free mtDNA in cerebrospinal fluid (CSF) is associated with inflammation, neuronal damage, and neurocognitive functioning in the context of long-term suppressive antiretroviral therapy (ART). We quantified the levels of cell-free mtDNA in the CSF from 41 HIV-infected individuals with completely suppressed HIV RNA levels in blood plasma (<50 copies/mL) by droplet digital PCR...
December 5, 2016: Journal of Neurovirology
https://www.readbyqxmd.com/read/27921211/helix-o-modulates-voltage-dependency-of-clc-1
#15
Ju Yong Seong, Kotdaji Ha, Chansik Hong, Jongyun Myeong, Hyun-Ho Lim, Dongki Yang, Insuk So
The chloride channel (CLC) family of proteins consists of channels and transporters that share similarities in architecture and play essential roles in physiological functions. Among the CLC family, CLC-1 channels have the representative homodimeric double-barreled structure carrying two gating processes. One is protopore gating that acts on each pore independently by glutamate residue (Eext). The other is common gating that closes both pores simultaneously in association with large conformational changes across each subunit...
December 5, 2016: Pflügers Archiv: European Journal of Physiology
https://www.readbyqxmd.com/read/27921082/global-role-of-cyclic-amp-signaling-in-ph-dependent-responses-in-candida-albicans
#16
Jeffrey M Hollomon, Nora Grahl, Sven D Willger, Katja Koeppen, Deborah A Hogan
Candida albicans behaviors are affected by pH, an important environmental variable. Filamentous growth is a pH-responsive behavior, where alkaline conditions favor hyphal growth and acid conditions favor growth as yeast. We employed filamentous growth as a tool to study the impact of pH on the hyphal growth regulator Cyr1, and we report that downregulation of cyclic AMP (cAMP) signaling by acidic pH contributes to the inhibition of hyphal growth in minimal medium with GlcNAc. Ras1 and Cyr1 are generally required for efficient hyphal growth, and the effects of low pH on Ras1 proteolysis and GTP binding are consistent with diminished cAMP output...
November 2016: MSphere
https://www.readbyqxmd.com/read/27921079/data-file-of-a-deep-proteome-analysis-of-the-prefrontal-cortex-in-aged-mice-with-progranulin-deficiency-or-neuronal-overexpression-of-progranulin
#17
Juliana Heidler, Stefanie Hardt, Ilka Wittig, Irmgard Tegeder
Progranulin deficiency is associated with neurodegeneration in humans and in mice. The mechanisms likely involve progranulin-promoted removal of protein waste via autophagy. We performed a deep proteomic screen of the pre-frontal cortex in aged (13-15 months) female progranulin-deficient mice (GRN(-/-)) and mice with inducible neuron-specific overexpression of progranulin (SLICK-GRN-OE) versus the respective control mice. Proteins were extracted and analyzed per liquid chromatography/mass spectrometry (LC/MS) on a Thermo Scientific™ Q Exactive Plus equipped with an ultra-high performance liquid chromatography unit and a Nanospray Flex Ion-Source...
December 2016: Data in Brief
https://www.readbyqxmd.com/read/27921076/yeast-2-hybrid-data-file-showing-progranulin-interactions-in-human-fetal-brain-and-bone-marrow-libraries
#18
Irmgard Tegeder
Progranulin deficiency in humans is associated with neurodegeneration. Its mechanisms are not yet fully understood. We performed a Yeast-2-Hybrid screen using human full-length progranulin as bait to assess the interactions of progranulin. Progranulin was screened against human fetal brain and human bone marrow libraries using the standard Matchmaker technology (Clontech). This article contains the full Y2H data table, including blast results and sequences, a sorted table according to selection criteria for likely positive, putatively positive, likely false and false preys, and tables showing the gene ontology terms associated with the likely and putative preys of the brain and bone marrow libraries...
December 2016: Data in Brief
https://www.readbyqxmd.com/read/27921011/mechanisms-of-infectivity-and-evasion-derived-from-microvesicles-cargo-produced-by-trypanosoma-cruzi
#19
REVIEW
Bruna C Borges, Isadora A Uehara, Laysa O S Dias, Paula C Brígido, Claudio V da Silva, Marcelo J B Silva
Cell invasion by the intracellular protozoans requires interaction of proteins from both the host and the parasite. Many parasites establish chronic infections, showing they have the potential to escape the immune system; for example, Trypanosoma cruzi is an intracellular parasite that causes Chagas disease. Parasite internalization into host cell requires secreted and surface molecules, such as microvesicles. The release of microvesicles and other vesicles, such as exosomes, by different eukaryotic organisms was first observed in the late twentieth century...
2016: Frontiers in Cellular and Infection Microbiology
https://www.readbyqxmd.com/read/27921010/structural-insights-into-substrate-recognition-by-clostridium-difficile-sortase
#20
Jui-Chieh Yin, Chun-Hsien Fei, Yen-Chen Lo, Yu-Yuan Hsiao, Jyun-Cyuan Chang, Jay C Nix, Yuan-Yu Chang, Lee-Wei Yang, I-Hsiu Huang, Shuying Wang
Sortases function as cysteine transpeptidases that catalyze the covalent attachment of virulence-associated surface proteins into the cell wall peptidoglycan in Gram-positive bacteria. The substrate proteins targeted by sortase enzymes have a cell wall sorting signal (CWSS) located at the C-terminus. Up to date, it is still not well understood how sortases with structural resemblance among different classes and diverse species of bacteria achieve substrate specificity. In this study, we focus on elucidating the molecular basis for specific recognition of peptide substrate PPKTG by Clostridium difficile sortase B (Cd-SrtB)...
2016: Frontiers in Cellular and Infection Microbiology
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