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Mrasek Kristin K Jena University Hospital, Institute of Human Genetics, Friedrich Schiller University, Kollegiengasse 10, Jena, D-07743, - - 2015
Genomic instability tends to occur at specific genomic regions known as common fragile sites (FS). FS are evolutionarily conserved and generally involve late replicating regions with AT-rich sequences. The possible correlation between some FS and cancer-related breakpoints emphasizes on the importance of understanding the mechanisms of chromosomal instability at these ...
Weise Anja A Jena University Hospital, Institute of Human Genetics, Friedrich Schiller University, Kollegiengasse 10, 07743, Jena, - - 2015
Copy number variations (CNVs) are structural variations of the human genome. These alterations result in variant copy numbers of certain stretches of DNA. In other words, some regions may be present in more or less copies than in a reference genome; however, these copy number changes do not have any ...
Castronovo Chiara C Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milano, - - 2014
Interstitial triplications of 15q11-q13, leading to tetrasomy of the involved region, are very rare, with only 11 cases reported to date. Their pathogenicity is independent of the parental origin of the rearranged chromosome. The associated phenotype resembles, but is less severe, than that of patients bearing inv dup(15) marker chromosomes. ...
Chen T T 1] Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA [2] Department of Endoscopy Center, Zhongshan Hospital, Fudan University, Shanghai, - - 2014
Genome instability is a hallmark of cancer cells. Chromosome instability (CIN), which is often mutually exclusive from hypermutation genotypes, represents a distinct subtype of genome instability. Hypermutations in cancer cells are due to defects in DNA repair genes, but the cause of CIN is still elusive. However, because of the ...
Fukagawa Tatsuo T Department of Molecular Genetics, National Institute of Genetics and Graduate University for Advanced Studies (SOKENDAI), Mishima, Shizuoka 411-8540, Japan. Electronic address: - - 2014
Neocentromeres are formed at new positions on a chromosome, and offer unique opportunities to study the regulation of centromere formation.
Wu Zhenfang Z State Key Laboratory of Microbial Resources, Institute of Microbiology, Chinese Academy of Sciences, Beijing, 100101, China; 2University of Chinese Academy of Sciences, Beijing, China State Key Laboratory of Microbial Resources, Institute of Microbiology, Chinese Academy of Sciences, Beijing, 100101, China; 2University of Chinese Academy of Sciences, Beijing, - - 2014
Haloarchaeal genomes are generally composed of multiple replicons, and each replicon has a single or multiple replication origin(s). The comparative genomic analysis of replication origins from closely related species can be used to reveal the evolutionary mechanisms that account for the development of multiple origin systems. Multiple replication origins have ...
Becker Jürgen C JC Division of General Dermatology, Medical University of Graz, Graz, - - 2014
Adult skin stem cells do not protect their genome by asymmetric chromosome segregation; thus, they are prone to accumulating oncogenic mutations.
Jeppsson Kristian K Karolinska Institutet, Department of Cell and Molecular Biology, Stockholm, - - 2014
The cohesin complex, which is essential for sister chromatid cohesion and chromosome segregation, also inhibits resolution of sister chromatid intertwinings (SCIs) by the topoisomerase Top2. The cohesin-related Smc5/6 complex (Smc5/6) instead accumulates on chromosomes after Top2 inactivation, known to lead to a buildup of unresolved SCIs. This suggests that cohesin ...
Mengoli Valentina V Istituto Pasteur-Fondazione Cenci Bolognetti and Istituto di Biologia e Patologia Molecolari (IBPM) del CNR, Dipartimento di Biologia e Biotecnologie "C. Darwin", Sapienza, Università di Roma, Roma, - - 2014
Topoisomerase II is a major component of mitotic chromosomes but its role in the assembly and structural maintenance of chromosomes is rather controversial, as different chromosomal phenotypes have been observed in various organisms and in different studies on the same organism. In contrast to vertebrates that harbor two partially redundant ...
Kao Kuo-Wei KW Department of Agronomy, National Chung Hsing University, 250 Kuo Kuang Road, Taichung, 402, - - 2014
Understanding the molecular organization of the maize B-chromosome is hindered by its high homology with A-chromosomes. Recently, various approaches have been employed to overcome this hindrance, and several B-chromosome-specific sequences have been identified. Here, we cloned and characterized four previously published B-chromosome-specific RAPD fragments in detail. The results of sequence ...
Koryakov Dmitry E DE Institute of Molecular and Cellular Biology SB RAS, Novosibirsk State University, Novosibirsk, 630090, Russia, - - 2014
Drosophila cell lines are used extensively to study replication timing, yet data about DNA replication in larval and adult tissues are extremely limited. To address this gap, we traced DNA replication in polytene chromosomes from nurse cells of Drosophila melanogaster otu mutants using bromodeoxyuridine incorporation. Importantly, nurse cells are of ...
Foroud Tatiana T From the Indiana University School of Medicine, Indianapolis (T.F., D.L., D.K., J.M.); University Medical Center Utrecht, Utrecht, The Netherlands (F.v.H., G.R., Y.R.); Kuopio University Hospital, Kuopio, Finland (M.I.K., M.v.u.z.F., J.E.J.); University of Eastern Finland, Kuopio, Finland (M.I.K., M.v.u.z.F., J.E.J.); Massachusetts General Hospital and Harvard Medical School, Boston (M.I.K., A.P., S.R.); Broad Institute of Harvard and MIT, Cambridge, MA (M.I.K., A.P., S.R.); University of Sydney and Royal Prince Alfred Hospital, Sydney, Australia (C.S.A.); Mayo Clinic, Rochester, MN (R.D.B., J. Huston I.M.); Columbia University School of Medicine, New York, NY (E.S.C.); University of Helsinki, Helsinki, Finland (J.G.E., E.I.G.); Folkhälsan Research Center, Helsinki, Finland (J.G.E.); National Institute for Health and Welfare, Helsinki, Finland (J.G.E.); Vasa Central Hospital, Vasa, Finland (J.G.E.); Helsinki University Central Hospital, Helsinki, Finland (J.G.E., E.I.G., A.L., J. Hernesniemi, R.K., H.L., M.N.); University of Cincinnati, OH (M. Flaherty, D.K., C.J.M., L.S., D.W., J.B.); University of Texas Health Science Center at Houston (M. Fornage); Radboud University Medical Center, Nijmegen, The Netherlands (L.A.K., S.H.V.); University of California, San Francisco (N.K.); University of Mississippi Medical Center, Jackson (T.H.M.); Jagiellonian University Medical College, Krakow, Poland (M.M., J.P., A.S.); The Wellcome Trust Sanger Institute, Cambridge, United Kingdom (A.P.); University of Montreal, Montréal, Québec, Canada (G.R.); and University of Virginia School of Medicine, Charlottesville (B.B.W.). - - 2014
Common variants have been identified using genome-wide association studies which contribute to intracranial aneurysms (IA) susceptibility. However, it is clear that the variants identified to date do not account for the estimated genetic contribution to disease risk. Initial analysis was performed in a discovery sample of 2617 IA cases and ...
Le Tallec Benoît B Institut Curie, Centre de Recherche, 26 rue d'Ulm, 75248, Paris Cedex 05, - - 2014
Common fragile sites (CFSs) are large chromosomal regions long identified by conventional cytogenetics as sequences prone to breakage in cells subjected to replication stress. The interest in CFSs came from their key role in the formation of DNA damage, resulting in chromosomal rearrangements. The instability of CFSs was notably correlated with ...
Milosevic J J Faculté de Médecine, Laboratoire de Cytogénétique Constitutionnelle, Hôpital Cochin, APHP, Université Paris Descartes, Paris, - - 2014
Inverted duplications with terminal deletions are a well-defined family of complex rearrangements already observed for most of chromosome extremities. Several mechanisms have been suggested which could lead to their occurrence, either through non-homologous end joining, non-allelic homologous recombination, or more recently through an intrastrand fold-back mechanism. We describe here a ...
Blanchard Daniel P DP Department of Molecular and Cell Biology, University of California, Berkeley, CA 94720; - - 2014
Lethal malignant brain tumors (lmbt) result from the loss of the conserved transcriptional repressor l(3)mbt, in Drosophila melanogaster. Similar mutations in the human homolog L3MBTL1 correlate with some cancers. The protein's C-terminal MBT repeats bind mono and dimethylated histones in vitro, which could influence recruitment of L3MBTL1 to its target ...
Yang Xian Rong XR Ophthalmology Department, Affiliated Hospital of Inner Mongolia Medical University, Hohhot 010050, - - 2014
The human Y chromosome is always intriguing for researchers, because of its role in gender determination and its unusual evolutionary history. The Y chromosome evolves from an autosome, and its evolution has been characterized by massive gene decay. The lack of recombination and protein-coding genes and high content of repetitive ...
Zhang Wenpan W National Key Laboratory of Crop Genetics and Germplasm Enhancement, Cotton Research Institute, Nanjing Agricultural University, Nanjing 210095, - - 2014
Centromere usually contains high-copy-number retrotransposons and satellite repeats, which are difficult to map, clone and sequence. Currently, very little is known about the centromere in cotton. Here, we sequenced a bacterial artificial chromosome (BAC) mapping to the centromeric region and predicted four long-terminal-repeat (LTR) retrotransposons. They were located in the ...
Suárez-Villota Elkin Y EY Instituto de Ciencias Marinas y Limnológicas, Universidad Austral de Chile, Valdivia, - - 2014
Unlike the X chromosome, the mammalian Y chromosome undergoes evolutionary decay resulting in small size. This sex chromosomal heteromorphism, observed in most species of the fossorial rodent Ctenomys, contrasts with the medium-sized, homomorphic acrocentric sex chromosomes of closely related C. maulinus and C. sp. To characterize the sequence composition of ...
Matsubara Kazumi K Institute for Applied Ecology, University of Canberra, Canberra, A.C.T., - - 2014
Evaluating homology between the sex chromosomes of different species is an important first step in deducing the origins and evolution of sex-determining mechanisms in a clade. Here, we describe the preparation of Z and W chromosome paints via chromosome microdissection from the Australian marbled gecko (Christinus marmoratus) and their subsequent ...
Krishnan Badri B University of - - 2014
Regular meiotic chromosome segregation requires sister centromeres to mono-orient (orient to the same pole) during the first meiotic division (meiosis I) when homologous chromosomes segregate, and to bi-orient (orient to opposite poles) during the second meiotic division (meiosis II) when sister chromatids segregate. Both orientation patterns require cohesion between sister ...
Meyer Régis E - - 2014
Meiosis is characterized by two chromosome segregation rounds (Meiosis I and II), which follow a single round of DNA replication, resulting in haploid genome formation. Chromosome reduction occurs at meiosis I. It relies on key structures, such as chiasma, which is formed by repair between homologous chromatids of a double-strand ...
Dai Fei F Department of Agronomy, Zhejiang Key Laboratory of Crop Germplasm, Zhejiang University, Hangzhou 310058, - - 2014
The domestication of cultivated barley has been used as a model system for studying the origins and early spread of agrarian culture. Our previous results indicated that the Tibetan Plateau and its vicinity is one of the centers of domestication of cultivated barley. Here we reveal multiple origins of domesticated ...
Kynast Ralf G RG Royal Botanic Gardens, Kew, Richmond, Surrey, TW9 3AB, - - 2014
• Hydatellaceae are minute annual herbs with potential as a model system for studying early angiosperm evolution, but their karyology and ploidy levels are almost unknown. We investigated these aspects of Trithuria submersa, a widespread species that we show to be amenable to extended vegetative propagation.• We cultivated plants of ...
Demarre Gaëlle G CNRS, Centre de Génétique Moléculaire, Gif-sur-Yvette, France; Université Paris-Sud, Orsay, - - 2014
The replication terminus region (Ter) of the unique chromosome of most bacteria locates at mid-cell at the time of cell division. In several species, this localization participates in the necessary coordination between chromosome segregation and cell division, notably for the selection of the division site, the licensing of the division ...
Alpár Donát D Department of Pathology, University of Pécs Medical Center, Pécs, - - 2014
Pathogenesis of the non-random accumulation of extra chromosomes in the low and high hyperdiploid (HeL, HeH) pre-B pediatric acute lymphoblastic leukemia (B-pALL) is largely unknown, and has been clarified with respect only to tetrasomic chromosomes. We analyzed the hierarchy of changes in chromosome number and chromosomal instability, as well as ...
Junier Ivan I Centre for Genomic Regulation (CRG), Dr. Aiguader 88, 08003 Barcelona, Spain; Universitat Pompeu Fabra (UPF), Barcelona, Spain. Electronic address: - - 2014
The proper functioning of bacteria is encoded in their genome at multiple levels or scales, each of which is constrained by specific physical forces. At the smallest spatial scales, interatomic forces dictate the folding and function of proteins and nucleic acids. On longer length scales, stochastic forces emerging from the ...
Severson Aaron F AF Center for Gene Regulation in Health and Disease, Cleveland State University, Cleveland, United - - 2014
We show that multiple, functionally specialized cohesin complexes mediate the establishment and two-step release of sister chromatid cohesion that underlies the production of haploid gametes. In C. elegans, the meiotic kleisin subunits REC-8 and COH-3/4 endow cohesins with distinctive properties, specifying how cohesins load onto chromosomes and then trigger and ...
Zhang Yan Y Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, LKS Faculty of Medicine, The University of Hong Kong, 21 Sassoon Road, Hong - - 2014
Systemic lupus erythematosus (SLE) is a prototypic autoimmune disease that affects mainly females. What role the X chromosome plays in the disease has always been an intriguing question. In this study, we examined the genetic variants on the X chromosome through meta-analysis of two genome-wide association studies (GWAS) on SLE ...
Van Cauwenberghe Jannick J Plant Conservation and Population Biology, Biology Department, KU Leuven, Kasteelpark Arenberg 31, B-3001 Leuven, Belgium; Centre of Microbial and Plant Genetics, KU Leuven, Kasteelpark Arenberg 20, B-3001 Leuven, Belgium. Electronic address: - - 2014
The genetic diversity and population structure of about 350 Rhizobium leguminosarum biovar viciae isolates from Vicia cracca were analysed. A hierarchical sampling design was used covering three regions, one region in Belgium and two in France, in which multiple local V. cracca populations were sampled. Rhizobium isolates were genotyped using ...
Wu Jun J Center of Pear Engineering Technology Research, Nanjing Agricultural University, Nanjing 210095, - - 2014
Pear (Pyrus spp) is an important fruit crop, grown in all temperate regions of the world, with global production ranked after grape and apples among deciduous tree crops. A high-density linkage map is a valuable tool for fine mapping quantitative trait loci (QTL) and map-based gene cloning. In this study, ...
Myers Joseph N JN Jr Division of Dermatology, Georgia Regents University, Augusta, - - 2014
A 6-year-old girl presented for evaluation of skin discoloration. Examination revealed oval and oblong hypopigmented macules on her trunk and extremities. Cytogenetic studies and immunohistochemistry of biopsies from normally pigmented and hypopigmented skin revealed mosaicism for partial tetrasomy for 13q with low melanocyte levels in lesional skin. The patient was ...
González-Del Angel Ariadna A Laboratorio de Biología Molecular, Instituto Nacional de Pediatría, Distrito Federal, - - 2014
Trisomy 13, or Patau syndrome, is a chromosomal disorder that can occur in complete, partial, or mosaic forms. Mosaicism is observed in 6% of individuals with trisomy 13 and, in contrast to the complete form, has wide phenotypic variability, longer survival, and in some patients an unusual skin pigmentary pattern ...
Singla Shilpy S Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, - - 2014
A 7-month-old male presented with developmental delay and multiple congenital anomalies. He was found to have partial trisomy for the distal segment of chromosome 15 (q22-qter). Chromosome analysis of the mother showed a reciprocal balanced translocation between long arms of chromosome 6 and 15, t (6;15)(q26;q22).
Martínez Paula P Telomeres and Telomerase Group, Molecular Oncology Program, Spanish National Cancer Centre (CNIO), Melchor Fernández Almagro 3, E-28029, Madrid, - - 2014
TRF2 is a component of shelterin, the protein complex that protects the ends of mammalian chromosomes. TRF2 is essential for telomere capping owing to its roles in suppressing an ATM-dependent DNA damage response (DDR) at chromosome ends and inhibiting end-to-end chromosome fusions. Mice deficient for TRF2 are early embryonic lethal. ...
Grant Audrey V AV Laboratoire de Génétique Humaine des Maladies Infectieuses, Branche Necker, Institut National de la Santé et de la Recherche Médicale, U980, Paris, France, - - 2014
Leprosy is caused by infection with Mycobacterium leprae and is classified clinically into paucibacillary (PB) or multibacillary (MB) subtypes based on the number of skin lesions and the bacillary index detected in skin smears. We previously identified a major PB susceptibility locus on chromosome region 10p13 in Vietnamese families by ...
Devi G Sandhya GS Department of Laboratory Medicine, Basavatarakam Indo American Cancer Hospital and Research Institute, Rd No 14 Banjara Hills, Hyderabad, 500034 - - 2014
Conventional/molecular cytogenetics is important in identification of genomic abnormalities, for prognostication and in risk stratification of de novo patients with acute myeloid leukemias (AML). Here we present an AML M2 case showing the sole karyotypic abnormality, the rare interstitial deletion in the long arm of chromosome 9 with the loss ...
Okumura Kazuhiro K Department of Carcinogenesis Research, Division of Experimental Animal Research, Chiba Cancer Center Research Institute, Chiba, Chiba, - - 2014
Genome-wide association studies have revealed that many low-penetrance cancer susceptibility loci are located throughout the genome; however, a very limited number of genes have been identified so far. Using a forward genetics approach to map such loci in a mouse skin cancer model, we previously identified strong genetic loci conferring ...
Saito Megumi M Department of Carcinogenesis Research, Division of Experimental Animal Research, Chiba Cancer Center Research Institute, 666-2 Nitonacho, Chuouku, Chiba 260-8717, - - 2014
Genome-wide association studies have revealed that many low-penetrance cancer susceptibility loci are located throughout the genome; however, a very limited number of genes have been identified so far. Using a forward genetics approach to map such loci in a mouse skin cancer model, we previously identified strong genetic loci conferring ...
Pico Gisela M Via Do GM Instituto de Botánica del Nordeste (UNNE-CONICET), Sargento Cabral 2131. Casilla de Correo 209, CP 3400 Corrientes, - - 2014
Chromosome counts and karyotypes of two species of Chrysolaena H. Robinson 1988 are presented in this paper. Mitotic analysis revealed that both taxa have x=10, a basic chromosome number considered characteristic of the genus. The chromosome number and the karyotype of Chrysolaena cristobaliana are reported for the first time, as ...
Nguyen Scott V SV Department of Microbiology and Immunology, The University of Oklahoma Health Sciences Center Oklahoma City, OK, - - 2014
Streptococcus pyogenes is a significant pathogen of humans, annually causing over 700,000,000 infections and 500,000 deaths. Virulence in S. pyogenes is closely linked to mobile genetic elements like phages and chromosomal islands (CI). S. pyogenes phage-like chromosomal islands (SpyCI) confer a complex mutator phenotype on their host. SpyCI integrate into ...
Meloni Vera Ayres VA Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, SP, - - 2014
Partial duplication 1q is a rare cytogenetic anomaly frequently associated to deletion of another chromosome, making it difficult to define the precise contribution of the different specific chromosomal segments to the clinical phenotype. We report a clinical and cytogenomic study of a patient with multiple congenital anomalies, heart defect, neuromotordevelopment ...
Kazuki Yasuhiro Y 1] Department of Biomedical Science, Institute of Regenerative Medicine and Biofunction, Graduate School of Medical Science, Tottori University, 86 Nishi-cho, Yonago, Tottori 683-8503, Japan; Tel: +81-859-38-6219 [2] Chromosome Engineering Research Center (CERC), Tottori University, 86 Nishi-cho, Yonago, Tottori 683-8503, - - 2014
Infants with Down syndrome (DS) are at a high risk of developing transient abnormal myelopoiesis (TAM). A GATA1 mutation leading to the production of N-terminally truncated GATA1 (GATA1s) in early megakaryocyte/erythroid progenitors is linked to the onset of TAM and cooperated with the effect of trisomy 21 (Ts21). To gain ...
Pansonato-Alves José Carlos JC Universidade Estadual Paulista (UNESP), Instituto de Biociências/IB, Departamento de Morfologia, Botucatu, São Paulo, - - 2014
Chromosome painting with DNA probes obtained from supernumerary (B) and sex chromosomes in three species of fish genus Characidium (C. gomesi, C. pterostictum and C. oiticicai) showed a close resemblance in repetitive DNA content between B and sex chromosomes in C. gomesi and C. pterostictum. This suggests an intraspecific origin ...
Ahola Virpi V 1] Department of Biosciences, University of Helsinki, FI-00014 Helsinki, Finland - - 2014
Previous studies have reported that chromosome synteny in Lepidoptera has been well conserved, yet the number of haploid chromosomes varies widely from 5 to 223. Here we report the genome (393 Mb) of the Glanville fritillary butterfly (Melitaea cinxia; Nymphalidae), a widely recognized model species in metapopulation biology and eco-evolutionary research, ...
Groom Joseph J Department of Genetics, University of Georgia, Athens, GA 30602 USA ; The BioEnergy Science Center, Oak Ridge National Laboratory, Oak Ridge, TN - - 2014
Members of the thermophilic, anaerobic Gram-positive bacterial genus Caldicellulosiruptor grow optimally at 65 to 78°C and degrade lignocellulosic biomass without conventional pretreatment. Decomposition of complex cell wall polysaccharides is a major bottleneck in the conversion of plant biomass to biofuels and chemicals, and conventional biomass pretreatment includes exposure to high ...
Zefa Edison E Universidade Federal de Pelotas, IB, Depto. de Ecologia, Zoologia e Genética, and Depto. de Anatomia, Campus Capão do Leão s/n., 96010-900, Brazil; Email: - - 2014
The tropical bush cricket Eneoptera surinamensis (De Geer, 1773) shows a peculiar karyotype with 2n = 9 for males, and 2n = 10 for females, with X<sub>1</sub>X<sub>2</sub>Y♂ sex mechanism systems whose origin remains unclear, probably arisen by a two-step chromosome rearrangements, including an X acrocentric and two pair of autosomal ...
Cabral Gabriela G 1] Department of Botany, Laboratory of Plant Cytogenetics and Evolution, Federal University of Pernambuco, Rua Nelson Chaves s/n, Recife, Pernambuco 50670-420, Brazil [2] Department of Chromosome Biology, Max F. Perutz Laboratories, University of Vienna, Dr Bohr-Gasse 9, Vienna A-1030, - - 2014
Meiosis is a specialized cell division in sexually reproducing organisms before gamete formation. Following DNA replication, the canonical sequence in species with monocentric chromosomes is characterized by reductional segregation of homologous chromosomes during the first and equational segregation of sister chromatids during the second meiotic division. Species with holocentric chromosomes ...
Rey María-Dolores MD Plant Breeding Department, Institute for Sustainable Agriculture, Agencia Estatal Consejo Superior de Investigaciones Científicas (CSIC), Córdoba, - - 2014
Meiosis is a specialised cell division that involves chromosome replication, two rounds of chromosome segregation and results in the formation of the gametes. Meiotic DNA replication generally precedes chromosome pairing, recombination and synapsis in sexually developing eukaryotes. In this work, replication has been studied during premeiosis and early meiosis in ...
Wu Jiayun J Key Lab of Sugarcane Biology and Genetic Breeding, Ministry of Agriculture, Fujian Agriculture and Forestry University, Fuzhou, China; Guangzhou Research Institute for Sugarcane Industry, Guangzhou, - - 2014
Erianthus arundinaceus is a valuable source of agronomic traits for sugarcane improvement such as ratoonability, biomass, vigor, tolerance to drought and water logging, as well as resistance to pests and disease. To investigate the introgression of the E. arundinaceus genome into sugarcane, five intergeneric F1 hybrids between S. officinarum and ...
Chang Szu-Wei SW Graduate Institute of Microbiology, College of Medicine, National Taiwan University, Taipei, - - 2014
The papillomavirus E2 protein is involved in the maintenance of persistent infection and known to bind either to cellular factors or directly to mitotic chromosomes in order to partition the viral genome into the daughter cells. However, how the HPV-16 E2 protein acts to facilitate partitioning of the viral genome ...
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