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https://www.readbyqxmd.com/read/28099951/complex-x-chromosomal-rearrangements-in-two-women-with-ovarian-dysfunction-implications-of-chromothripsis-chromoanasynthesis-dependent-and-independent-origins-of-complex-genomic-alterations
#1
Erina Suzuki, Hirohito Shima, Machiko Toki, Kunihiko Hanew, Keiko Matsubara, Hiroki Kurahashi, Satoshi Narumi, Tsutomu Ogata, Tsutomu Kamimaki, Maki Fukami
Our current understanding of the phenotypic consequences and the molecular basis of germline complex chromosomal rearrangements remains fragmentary. Here, we report the clinical and molecular characteristics of 2 women with germline complex X-chromosomal rearrangements. Patient 1 presented with nonsyndromic ovarian dysfunction and hyperthyroidism; patient 2 exhibited various Turner syndrome- associated symptoms including ovarian dysfunction, short stature, and autoimmune hypothyroidism. The genomic abnormalities of the patients were characterized by array-based comparative genomic hybridization, high-resolution karyotyping, microsatellite genotyping, X-inactivation analysis, and bisulfite sequencing...
January 19, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28095777/random-x-chromosome-inactivation-dynamics-in-vivo-by-single-cell-rna-sequencing
#2
Menghan Wang, Fangqin Lin, Ke Xing, Li Liu
BACKGROUND: Random X-chromosome inactivation (rXCI) is important for the maintenance of normal somatic cell functions in female eutherian mammals. The dynamics of X-chromosome inactivation initiation has been widely studied by assessing embryonic stem cell differentiation in vitro. To investigate the phenomenon in vivo, we applied RNA sequencing to single cells from female embryos obtained from a natural intercrossing of two genetically distant mouse strains. Instead of artificially assigning the parental origin of the inactive X chromosome, the inactive X chromosomes in this study were randomly selected from the natural developmental periods and thus included both paternal and maternal origins...
January 17, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28093507/mosaic-expression-of-atrx-in-the-central-nervous-system-causes-memory-deficits
#3
Renee J Tamming, Jennifer R Siu, Yan Jiang, Marco A M Prado, Frank Beier, Nathalie G Bérubé
The rapid modulation of chromatin organization is thought to play a critical role in cognitive processes such as memory consolidation. This is supported in part by the dysregulation of many chromatin remodeling proteins in neurodevelopmental and psychiatric disorders. A key example is ATRX, an X-linked gene commonly mutated in individuals with syndromic and non-syndromic intellectual disability (ID). The consequences of Atrx inactivation on learning and memory have been difficult to evaluate due to the early lethality of hemizygous-null animals...
January 12, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28088718/highly-efficient-inactivation-of-bacteria-found-in-drinking-water-using-chitosan-bentonite-composites-modelling-and-breakthrough-curve-analysis
#4
Sarah C Motshekga, Suprakas Sinha Ray
Disinfection of bacterially-contaminated drinking water requires a robust and effective technique and can be achieved by using an appropriate disinfectant material. The advanced use of nanomaterials is observed as an alternative and effective way for the disinfection process and water treatment as a whole. Hence, the inactivation of Escherichia coli (E. coli) using chitosan-Bentonite (Cts-Bent) composites was studied in a fixed bed column. Cts-Bent composites were synthesized using in situ cross-linking method using Bent-supported silver and zinc oxide nanoparticles...
January 3, 2017: Water Research
https://www.readbyqxmd.com/read/28088476/a-chimeric-protein-of-abrin-and-abrus-precatorius-agglutinin-that-neutralizes-abrin-mediated-lethality-in-mice
#5
Vinita Tiwari, Shradha Bagaria, Anjali A Karande
Abrin, a type II ribosome inactivating protein from the Abrus precatorius plant, is extremely toxic. It has been shown to be 75 times more potent than its infamous sister toxin, ricin and their potential use in bio-warfare is a cause of major concern. Although several vaccine candidates are under clinical trials for ricin, none are available against abrin. The present study proposes a chimeric protein, comprising of 1-123 amino acids taken from the A chain of abrin and 124-175 amino acids from Abrus precatorius agglutinin A chain, as a vaccine candidate against abrin intoxication...
January 11, 2017: Toxicon: Official Journal of the International Society on Toxinology
https://www.readbyqxmd.com/read/28081483/enhanced-visible-light-driven-photocatalytic-bacteria-disinfection-by-g-c3n4-agbr
#6
Jun Deng, Jialiang Liang, Mian Li, Meiping Tong
g-C3N4-AgBr was synthesized by depositing AgBr nanoparticles onto g-C3N4. Scanning electron microscopy (SEM), Transmission electron microscope (TEM), X-ray diffraction (XRD), X-ray photoelectron spectroscopy (XPS), UV-vis diffuse reflectance spectra (DRS) and Photoluminescence (PL) spectra were employed to characterize the as-synthesized photocatalysts. The disinfection activities towards representative Gram-negative strain E. coli and Gram-positive strain S. aureus were examined under visible light irradiation...
January 4, 2017: Colloids and Surfaces. B, Biointerfaces
https://www.readbyqxmd.com/read/28077438/fibroblast-drug-scavenging-increases-intratumoural-gemcitabine-accumulation-in-murine-pancreas-cancer
#7
E Hessmann, M S Patzak, L Klein, N Chen, V Kari, I Ramu, T E Bapiro, K K Frese, A Gopinathan, F M Richards, D I Jodrell, C Verbeke, X Li, R Heuchel, J M Löhr, S A Johnsen, T M Gress, V Ellenrieder, A Neesse
OBJECTIVE: Desmoplasia and hypovascularity are thought to impede drug delivery in pancreatic ductal adenocarcinoma (PDAC). However, stromal depletion approaches have failed to show clinical responses in patients. Here, we aimed to revisit the role of the tumour microenvironment as a physical barrier for gemcitabine delivery. DESIGN: Gemcitabine metabolites were analysed in LSL-Kras(G12D/+); LSL-Trp53(R172H/+); Pdx-1-Cre (KPC) murine tumours and matched liver metastases, primary tumour cell lines, cancer-associated fibroblasts (CAFs) and pancreatic stellate cells (PSCs) by liquid chromatography-mass spectrometry/mass spectrometry...
January 10, 2017: Gut
https://www.readbyqxmd.com/read/28068310/visualizing-the-secondary-and-tertiary-architectural-domains-of-lncrna-repa
#8
Fei Liu, Srinivas Somarowthu, Anna Marie Pyle
Long noncoding RNAs (lncRNAs) are important for gene expression, but little is known about their structures. RepA is a 1.6-kb mouse lncRNA comprising the same sequence as the 5' region of Xist, including A and F repeats. It has been proposed to facilitate the initiation and spread of X-chromosome inactivation, although its exact role is poorly understood. To gain insight into the molecular mechanism of RepA and Xist, we determined a complete phylogenetically validated secondary-structural map of RepA through SHAPE and DMS chemical probing of a homogeneously folded RNA in vitro...
January 9, 2017: Nature Chemical Biology
https://www.readbyqxmd.com/read/28066943/potential-value-of-the-common-vetch-vicia-sativa-l-as-an-animal-feedstuff-a-review
#9
REVIEW
Y F Huang, X L Gao, Z B Nan, Z X Zhang
The objective of this review was to systematically evaluate common vetch seeds as a potential feedstuff for animals, by summarizing and discussing the available published literature covering their nutritional composition as well as their content of antinutritional factors and potential techniques for their reduction. In addition, animal feeding studies that have investigated the effect of inclusion of common vetch seeds on animal growth and performance were identified and evaluated to stimulate interest in their use as a good source of nutrients for inclusion in animal diets...
January 8, 2017: Journal of Animal Physiology and Animal Nutrition
https://www.readbyqxmd.com/read/28063902/application-of-aluminum-chloride-phthalocyanine-loaded-solid-lipid-nanoparticles-for-photodynamic-inactivation-of-melanoma-cells
#10
Patrícia L Goto, Marigilson P Siqueira-Moura, Antonio C Tedesco
Cutaneous melanoma is the most aggressive skin cancer and is particularly resistant to current therapeutic approaches. Photodynamic therapy (PDT) is a well-established photoprocess that is employed to treat some cancers, including non-melanoma skin cancer. Aluminum chloride phthalocyanine (ClAlPc) is used as a photosensitizer in PDT; however, its high hydrophobicity hampers its photodynamic activity under physiological conditions. The aim of this study was to produce solid lipid nanoparticles (SLN) containing ClAlPc using the direct emulsification method...
January 4, 2017: International Journal of Pharmaceutics
https://www.readbyqxmd.com/read/28051304/censored-regression-modelling-to-predict-virus-inactivation-in-wastewaters
#11
Julii Brainard, Katherine Pond, Paul R Hunter
Among the many uncertainties presented by poorly studied pathogens is possible transmission via human faecal material or wastewaters. Such worries were a documented concern during the 2013 Ebola outbreak in West Africa. Using published experimental data on virus inactivation rates in wastewater and similar matrices, we extracted data to construct a model predicting the T90 (1 x log10 inactivation measured in seconds) of a virus. Extracted data were: RNA or DNA genome, enveloped or not, primary transmission pathway, temperature, pH, light levels and matrix...
January 4, 2017: Environmental Science & Technology
https://www.readbyqxmd.com/read/28040478/cathepsin-k-cleavage-of-sdf-1%C3%AE-inhibits-its-chemotactic-activity-towards-glioblastoma-stem-like-cells
#12
Vashendriya V V Hira, Urška Verbovšek, Barbara Breznik, Matic Srdič, Marko Novinec, Hala Kakar, Jill Wormer, Britt Van der Swaan, Brigita Lenarčič, Luiz Juliano, Shwetal Mehta, Cornelis J F Van Noorden, Tamara T Lah
Glioblastoma (GBM) is the most aggressive primary brain tumor with poor patient survival that is at least partly caused by malignant and therapy-resistant glioma stem-like cells (GSLCs) that are protected in GSLC niches. Previously, we have shown that the chemo-attractant stromal-derived factor-1α (SDF-1α), its C-X-C receptor type 4 (CXCR4) and the cysteine protease cathepsin K (CatK) are localized in GSLC niches in glioblastoma. Here, we investigated whether SDF-1α is a niche factor that through its interactions with CXCR4 and/or its second receptor CXCR7 on GSLCs facilitates their homing to niches...
December 28, 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28034840/establishment-of-porcine-xist-knockout-model-using-crispr-cas9-system
#13
Li Guoling, Zhong Cuili, Ni Sheng, Liu Dewu, Cai Gengyuan, Li Zicong, Yang Huaqiang, Wu Zhenfang
Somatic cell nuclear transfer technique has great applications in livestock breeding, production of genetically modified animals, rescue of endangered species and treatment of human diseases. However, the currently low efficiency in animals cloning, an average of less than 5%, greatly hindered the rapid development of this technique. Among many factors which affect the efficiency of cloning pigs, X chromosome inactivation is an important one. Moreover, Xist gene is closely related to X chromosome inactivation, suggesting that it may directly or indirectly affects cloning efficiency...
December 20, 2016: Yi Chuan, Hereditas
https://www.readbyqxmd.com/read/28029716/inactivation-of-human-coagulation-factor-x-by-a-protease-of-the-pathogen-capnocytophaga-canimorsus
#14
K Hack, F Renzi, E Hess, F Lauber, J Douxfils, J M Dogné, G R Cornelis
BACKGROUND: Capnocytophaga canimorsus is a Gram-negative bacterium, which belongs to the oral flora of dogs and causes fulminant sepsis in humans who have been bitten, licked or scratched. In patients, bleeding abnormalities, such as petechiae, purpura fulminans or disseminated intravascular coagulation (DIC) occur frequently. OBJECTIVE: We investigated whether C. canimorsus could actively contribute to these bleeding abnormalities. METHODS: Calibrated automated thrombogram and clotting time assays were performed to assess the anticoagulant activity of C...
December 28, 2016: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28027854/exome-sequencing-in-children-of-women-with-skewed-x-inactivation-identifies-atypical-cases-and-complex-phenotypes
#15
Elisa Giorgio, Alessandro Brussino, Elisa Biamino, Elga Fabia Belligni, Alessandro Bruselles, Andrea Ciolfi, Viviana Caputo, Simone Pizzi, Alessandro Calcia, Eleonora Di Gregorio, Simona Cavalieri, Cecilia Mancini, Elisa Pozzi, Marta Ferrero, Evelise Riberi, Iolanda Borelli, Antonio Amoroso, Giovanni Battista Ferrero, Marco Tartaglia, Alfredo Brusco
BACKGROUND: More than 100 X-linked intellectual disability (X-LID) genes have been identified to be involved in 10-15% of intellectual disability (ID). METHOD: To identify novel possible candidates, we selected 18 families with a male proband affected by isolated or syndromic ID. Pedigree and/or clinical presentation suggested an X-LID disorder. After exclusion of known genetic diseases, we identified seven cases whose mother showed a skewed X-inactivation (>80%) that underwent whole exome sequencing (WES, 50X average depth)...
December 19, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28011933/epigenetic-and-transcriptional-regulation-of-irak-m-expression-in-macrophages
#16
Konstantina Lyroni, Andreas Patsalos, Maria G Daskalaki, Christina Doxaki, Birte Soennichsen, Mike Helms, Ioannis Liapis, Vassiliki Zacharioudaki, Sotirios C Kampranis, Christos Tsatsanis
During macrophage activation, expression of IL-1R-associated kinase (IRAK)-M is induced to suppress TLR-mediated responses and is a hallmark of endotoxin tolerance. Endotoxin tolerance requires tight regulation of genes occurring at the transcriptional and epigenetic levels. To identify novel regulators of IRAK-M, we used RAW 264.7 macrophages and performed a targeted RNA interference screen of genes encoding chromatin-modifying enzymes, signaling molecules, and transcription factors involved in macrophage activation...
December 23, 2016: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28008906/pleckstrin-homology-domain-containing-protein-phldb3-supports-cancer-growth-via-a-negative-feedback-loop-involving-p53
#17
Tengfei Chao, Xiang Zhou, Bo Cao, Peng Liao, Hongbing Liu, Yun Chen, Hee-Won Park, Shelya X Zeng, Hua Lu
The tumour suppressor p53 transactivates the expression of its target genes to exert its functions. Here, we identify a pleckstrin homology domain-containing protein (PHLDB3)-encoding gene as a p53 target. PHLDB3 overexpression increases proliferation and restrains apoptosis of wild-type p53-harboring cancer cells by reducing p53 protein levels. PHLDB3 binds to MDM2 (mouse double minute 2 homolog) and facilitates MDM2-mediated ubiquitination and degradation of p53. Knockdown of PHLDB3 more efficiently inhibits the growth of mouse xenograft tumours derived from human colon cancer HCT116 cells that contain wild type p53 compared with p53-deficient HCT116 cells, and also sensitizes tumour cells to doxorubicin and 5-Fluorouracil...
December 23, 2016: Nature Communications
https://www.readbyqxmd.com/read/28005959/an-intranasal-proteosome-adjuvanted-trivalent-influenza-vaccine-is-safe-immunogenic-efficacious-in-the-human-viral-influenza-challenge-model-serum-igg-mucosal-iga-are-important-correlates-of-protection-against-illness-associated-with-infection
#18
Rob Lambkin-Williams, Colin Gelder, Richard Broughton, Corey P Mallett, Anthony S Gilbert, Alex Mann, David He, John S Oxford, David Burt
INTRODUCTION: A Proteosome-adjuvanted trivalent inactivated influenza vaccine (P-TIV) administered intra-nasally was shown to be safe, well tolerated and immunogenic in both systemic and mucosal compartments, and effective at preventing illness associated with evidence of influenza infection. METHODS: In two separate studies using the human viral challenge model, subjects were selected to be immunologically naive to A/Panama/2007/1999 (H3N2) virus and then dosed via nasal spray with one of three regimens of P-TIV or placebo...
2016: PloS One
https://www.readbyqxmd.com/read/28002731/cholesterol-accumulation-in-cd11c-immune-cells-is-a-causal-and-targetable-factor-in-autoimmune-disease
#19
Ayaka Ito, Cynthia Hong, Kazuhiro Oka, Jon V Salazar, Cody Diehl, Joseph L Witztum, Mercedes Diaz, Antonio Castrillo, Steven J Bensinger, Lawrence Chan, Peter Tontonoz
Liver X receptors (LXRs) are regulators of cholesterol metabolism that also modulate immune responses. Inactivation of LXR α and β in mice leads to autoimmunity; however, how the regulation of cholesterol metabolism contributes to autoimmunity is unclear. Here we found that cholesterol loading of CD11c(+) cells triggered the development of autoimmunity, whereas preventing excess lipid accumulation by promoting cholesterol efflux was therapeutic. LXRβ-deficient mice crossed to the hyperlipidemic ApoE-deficient background or challenged with a high-cholesterol diet developed autoantibodies...
December 20, 2016: Immunity
https://www.readbyqxmd.com/read/28000883/2-methoxyestradiol-inhibits-the-proliferation-and-migration-and-reduces-the-radioresistance-of-nasopharyngeal-carcinoma-cne-2-stem-cells-via-nf-%C3%AE%C2%BAb-hif-1-signaling-pathway-inactivation-and-emt-reversal
#20
Shun-Long Wu, Ya-Jun Li, Kui Liao, Lei Shi, Na Zhang, Shuang Liu, Yao-Yao Hu, Shao-Lin Li, Ying Wang
Accumulating evidence indicates that cancer stem cells (CSCs) are a source of resistance to radiation therapy (RT); however, the mechanism of this resistance remains unclear. 2-Methoxyestradiol (2-ME2) is a metabolic product of estrogen in the body. Recent studies have found that 2-ME2 regulates the activation of transcription factors, including nuclear factor (NF)-κB/hypoxia-inducible factor-1 (HIF-1), thus contributing to tumor cell apoptosis and chemosensitivity. Therefore, 2-ME2 is being studied as a potential anticancer drug...
February 2017: Oncology Reports
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