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Costa E M EM CBQF-Escola Superior de Biotecnologia, Universidade Católica Portuguesa, R. Dr. António Bernardino de Almeida, P-4200-072 Porto, - - 2014
A previous study showed that a chitosan mouthwash would be a valid alternative to current mouthwashes as it demonstrated, in vitro, significantly higher antibiofilm activity than two commercial mouthwashes. As such, the aim of this work was to verify the safety of the developed product and to validate, in vivo, ...
Zhang Rui R Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA ; Department of Hematology, The First Affiliated Hospital of China Medical University, Shenyang, Liaoning 110001, P.R. - - 2014
Acute promyelocytic leukemia (APL) is characterized by the t(15;17)(q22;q21), which results in the fusion of the promyelocytic leukemia (PML) gene at 15q22 with the retinoic acid α-receptor (RARA) gene at 17q21. The current study presents the case of a 54-year-old female with APL carrying the atypical PML/RARA fusion signal due ...
Wang Xiyin X Plant Genome Mapping Laboratory, University of Georgia, Athens, GA, 30602, USA; Center for Genomics and Computational Biology, Hebei United University, Tangshan, Hebei, 063000, China; College of Sciences, Hebei United University, Tangshan, Hebei, 063000, China; College of Life Sciences, Hebei United University, Tangshan, Hebei, 063000, - - 2014
Whole-genome duplication (WGD) is central to the evolution of many eukaryotic genomes, in particular rendering angiosperm (flowering plant) genomes much less stable than those of animals. Following repeated duplication/triplication(s), angiosperm chromosome numbers have usually been restored to a narrow range, as one element in a 'diploidization' process that re-establishes diploid ...
Pita Sebastián S Sección Genética Evolutiva, Instituto de Biología, Facultad de Ciencias, Universidad de la República, Calle Iguá 4225, 11400, Montevideo, - - 2014
Comparative genomics in Drosophila began in 1940, when Muller stated that the ancestral haploid karyotype of this genus is constituted by five acrocentric chromosomes and one dot chromosome, named A to F elements. In some species of the willistoni group such as Drosophila willistoni and D. insularis, the F element, ...
Payer Bernhard B Howard Hughes Medical Institute; Department of Molecular Biology; Massachusetts General Hospital; Department of Genetics; Harvard Medical School; Boston, MA - - 2014
X-chromosome inactivation (XCI) in female mammals is a dramatic example of epigenetic gene regulation, which entails the silencing of an entire chromosome through a wide range of mechanisms involving noncoding RNAs, chromatin-modifications, and DNA-methylation. While XCI is associated with the differentiated cell state, it is reversed by X-chromosome reactivation (XCR) ...
Gizzi Martin S MS 1-Division of Neuro-Ophthalmology, New Jersey Neuroscience Institute , Edison, - - 2014
ABSTRACT Aim: Benign positional paroxysmal vertigo (BPPV) is characterized by short-lived episodes of vertigo in association with rapid changes in head position, most commonly extension and rotation of the neck while supine. It has been clinically observed that there is a subgroup of patients in whom the BPPV disease is ...
Belova Tatiana T Department of Plant Sciences, Norwegian University of Life Sciences, Ås, Norway, - - 2014
A total of 3,671 sequence contigs and scaffolds were mapped to deletion bins on wheat chromosome 7B providing a foundation for developing high-resolution integrated physical map for this chromosome. Bread wheat (Triticum aestivum L.) has a large, complex and highly repetitive genome which is challenging to assemble into high quality ...
Ryan Owen W OW BP Biofuels Global Technology Center, San Diego, United - - 2014
The directed evolution of biomolecules to improve or change their activity is central to many engineering and synthetic biology efforts. However, selecting improved variants from gene libraries in living cells requires plasmid expression systems that suffer from variable copy number effects, or the use of complex marker-dependent chromosomal integration strategies. ...
Koren Amnon A Department of Genetics, Harvard Medical School, Boston, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, - - 2014
Recent studies based on next-generation DNA sequencing have revealed that the female inactive X chromosome is replicated in a rapid, unorganized manner, and undergoes increased rates of mutation. These observations link the organization of DNA replication timing to gene regulation on one hand, and to the generation of mutations on ...
Zhao Yong-Bin YB College of Life Science, Jilin University, Changchun, China; College of Life Science, Jilin Normal University, Siping, - - 2014
Y chromosome haplogroup Q1a1 is found almost only in Han Chinese populations. However, it has not been found in ancient Han Chinese samples until now. Thus, the origin of haplogroup Q1a1 in Han Chinese is still obscure. This study attempts to provide answer to this question, and to uncover the ...
Laflamme Guillaume G University of Montreal, - - 2014
SMC proteins are key organizers of chromosome architecture and are essential for genome integrity. They act by binding to chromatin and connecting distinct parts of chromosomes together. Interestingly, their potential role in providing connections between chromatin and the mitotic spindle has not been explored. Here, we show that yeast SMC ...
Corbett Kevin D KD Ludwig Institute for Cancer Research and Department of Cellular and Molecular Medicine, University of California, San Diego, La Jolla, CA 92093Ludwig Institute for Cancer Research and Department of Cellular and Molecular Medicine, University of California, San Diego, La Jolla, CA - - 2014
In eukaryotic cell division, the kinetochore mediates chromosome attachment to spindle microtubules and acts as a scaffold for signaling pathways, ensuring the accuracy of chromosome segregation. The architecture of the kinetochore underlies its function in mitosis. In this issue, Hornung et al. (2014. J. Cell Biol. http://dx.doi.org/201403081) identify an unexpected ...
Bhatnagar Sanchita S Howard Hughes Medical Institute and Programs inGene Function and Expression,Molecular Medicine, - - 2014
X-chromosome inactivation (XCI), the random transcriptional silencing of one X chromosome in somatic cells of female mammals, is a mechanism that ensures equal expression of X-linked genes in both sexes. XCI is initiated in cis by the noncoding Xist RNA, which coats the inactive X chromosome (Xi) from which it ...
Ruiz-Estévez Mercedes M Departamento de Genética, Facultad de Ciencias, Universidad de Granada, Granada, - - 2014
B chromosomes in the grasshopper Eyprepocnemis plorans are considered to be mitotically stable, because all meiotic (primary spermatocytes and oocytes) or mitotic (embryos, ovarioles, and gastric caecum) cells analyzed within the same individual show the same B chromosome number. Nothing is known, however, about body parts with somatic tissues with ...
Volleth Marianne M Department of Human Genetics, Otto von Guericke University, Magdeburg, - - 2014
Robertsonian (centric) fusion or fission is one of the predominant modes of chromosomal rearrangement in karyotype evolution among mammals. However, in karyotypes composed of only bi-armed chromosomes, creation of new chromosomal arm combinations in one step is possible only via whole-arm reciprocal translocation (WART). Although this type of rearrangement has ...
Sdano Mallory R MR Genetic Counselor, Lineagen, Inc, 2677 E Parleys, Way Salt Lake City, UT, 84109, USA, - - 2014
Mosaic chromosomal abnormalities are relatively common. However, mosaicism may be missed due to multiple factors including failure to recognize clinical indications and order appropriate testing, technical limitations of diagnostic assays, or sampling tissue (s) in which mosaicism is either not present, or present at very low levels. Blood leukocytes have ...
Scherthan Harry H Institut für Radiobiologie der Bundeswehr in Verb. mit der Univ. Ulm, 80937, München, Germany, - - 2014
The spatial distribution of parental genomes has attracted much interest because intranuclear chromosome distribution can modulate the transcriptome of cells and influence the efficacy of meiotic homologue pairing. Pairing of parental chromosomes is imperative to sexual reproduction as it translates into homologue segregation and genome haploidization to counteract the genome ...
Hao Ming M Sichuan Agricultural - - 2014
Meiotic non-reduction resulting in unreduced gametes is thought to be the predominant mechanism underlying allopolyploid formation in plants. Until now, however, its genetic base was largely unknown. The allohexaploid crop common wheat (Triticum aestivum L.), which originated from hybrids of T. turgidum L. with Aegilops tauschii Cosson, provides a model ...
Schemberger Michelle Orane MO 1 Programa de Pós-Graduação em Genética, Departamento de Genética, Centro Politécnico, Universidade Federal do Paraná , Curitiba, Paraná State, Brazil - - 2014
Abstract Repetitive DNA sequences, including tandem and dispersed repeats, comprise a large portion of eukaryotic genomes and are important for gene regulation, sex chromosome differentiation, and karyotype evolution. In Parodontidae, only the repetitive DNAs WAp and pPh2004 and rDNAs were previously studied using fluorescence in situ hybridization. This study aimed ...
Babiker Ebrahiem M EM USDA-ARS , 1691 S 2700 W , Aberdeen, Idaho, United States , 83210 ; - - 2014
Abstract Developing oat cultivars with partial resistance to crown rust would be beneficial and cost-effective for disease management. Two recombinant inbred line populations were generated by crossing the susceptible cultivar 'Provena' with two partially resistant sources, 'CDC Boyer' and breeding line 94197A1-9-2-2-2-5. A third mapping population was generated by crossing ...
Benedetti Fabrizio F Center for Integrative Genomics, Faculty of Biology and Medicine, University of Lausanne, 1015-Lausanne, - - 2014
Using Brownian dynamics simulations, we investigate here one of possible roles of supercoiling within topological domains constituting interphase chromosomes of higher eukaryotes. We analysed how supercoiling affects the interaction between enhancers and promoters that are located in the same or in neighbouring topological domains. We show here that enhancer-promoter affinity ...
Alvarez Luis L Unitat Antropologia Biològica, Universitat Autònoma de Barcelona, 08193, Bellaterra, Barcelona, Spain; IPATIMUP, Institute of Molecular Pathology and Immunology of the University of Porto, 4200-465, Porto, - - 2014
To provide new clues about the genetic origin, composition and structure of the population of the Spanish province of Zamora, with an emphasis on the genetic impact of the period of Islamic rule in the Iberian Peninsula. Polymorphisms in the paternally inherited Y-chromosome, Single Nucleotide Polymorphisms and Short Tandem Repeats, ...
Heselmeyer-Haddad Kerstin M KM Genetics Branch, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland. Electronic address: - - 2014
Gauging the risk of developing progressive disease is a major challenge in prostate cancer patient management. We used genetic markers to understand genomic alteration dynamics during disease progression. By using a novel, advanced, multicolor fluorescence in situ hybridization approach, we enumerated copy numbers of six genes previously identified by array ...
Pinto J C JC Faculty of Sciences, University of Porto , Porto , Portugal - - 2014
Abstract Background: In the Iberian Peninsula, the Mirandese dialect, spoken in Miranda do Douro (Portugal) close to the north-eastern border with Spain, has attracted much attention. Aim, subjects and methods: This study focuses on providing further insight into the connections forged between Miranda do Douro and regions in the nearby ...
Kim Ji Won JW Department of Obstetrics and Gynecology, Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul, - - 2014
The present study aims to evaluate whether multiplex ligation-dependent probe amplification (MLPA) technique with subtelomeric probes is to be an alternative method of routine G-banding chromosome analysis from pregnancy loss. A review of 5 years (from 2005 to 2009) of karyotype for products of conception (POCs) was carried out. From June ...
Mooneyham Kathryn Anne KA College of Medicine, Medical University of South Carolina, Charleston, South - - 2014
Microduplication of chromosome 17p13.1 is a rarely reported chromosome abnormality associated with neurodevelopmental delays. We describe two unrelated patients with overlapping microduplications of chromosome 17p13.1. The first patient is a 2-year-old male who presented with neurodevelopmental delays and macrocephaly. He was found to have a de novo 788 kb copy gain ...
Moghadasi Setareh S Department of Clinical Genetics, Leiden University Medical Center, Leiden, the - - 2014
Terminal deletions of the distal part of the short arm of chromosome 3 cause a wide range of phenotypes from normal to dysmorphic including microcephaly, developmental delay and intellectual disability. We studied the clinical consequences of a terminal deletion of the short arm of chromosome 3 in four generations of ...
Plaisancie Julie J Service de Génétique Médicale, Hôpital Purpan, CHU Toulouse. Electronic address: - - 2014
Structural alterations in chromosomes are a frequent cause of cancers and congenital diseases. Recently, the phenomenon of chromosome crisis, consisting of a set of tens to hundreds of clustered genomic rearrangements, localized in one or a few chromosomes, was described in cancer cells under the term chromothripsis. Better knowledge and ...
Feng Suhua S Department of Molecular, Cell and Developmental Biology, University of California, Los Angeles, Los Angeles, CA 90095, USA; Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research, University of California, Los Angeles, Los Angeles, CA 90095, USA; Howard Hughes Medical Institute, University of California, Los Angeles, Los Angeles, CA 90095, - - 2014
Chromosomes form 3D structures that are critical to the regulation of cellular and genetic processes. Here, we present a study of global chromatin interaction patterns in Arabidopsis thaliana. Our genome-wide approach confirmed interactions that were previously observed by other methods as well as uncovered long-range interactions such as those among small ...
Crespo-Herrera L A LA Department of Plant Breeding, Swedish University of Agricultural Sciences, P.O. Box 101, 23053, Alnarp, Sweden, - - 2014
Identification of novel resistance QTL against wheat aphids. First QTL-resistance report for R. padi in wheat and chromosome 2DL for S. graminum . These sources have potential use in wheat breeding. The aphids Rhopalosiphum padi and Schizaphis graminum are important pests of common wheat (Triticum aestivum L.). Characterization of the ...
Sheng Hongyan H Department of Plant Pathology, Washington State University, Pullman, WA, 99164-6430, - - 2014
This study identified three QTL conferring resistance to Oculimacula acuformis in Aegilops longissima and their associated markers, which can be useful in marker-assisted selection breeding for eyespot resistance. Oculimacula acuformis is one of two species of soilborne fungi that cause eyespot of wheat, the other being Oculimacula yallundae. Both pathogens ...
Grob Stefan S Institute of Plant Biology and Zürich-Basel Plant Science Center, University of Zürich, Zollikerstrasse 107, 8008 Zürich, - - 2014
Chromosomes are folded, spatially organized, and regulated by epigenetic marks. How chromosomal architecture is connected to the epigenome is not well understood. We show that chromosomal architecture of Arabidopsis is tightly linked to the epigenetic state. Furthermore, we show how physical constraints, such as nuclear size, correlate with the folding ...
Liang Ying Y State Key Laboratory for Infectious Disease Prevention and Control, Collaborative Innovation Center for Diagnosis and Treatment of Infectious Diseases, National Institute for Communicable Disease Control and Prevention, Chinese Center for Disease Control and Prevention, Changping District, Beijing, China; Qinghai Institute for Endemic Disease Control and Prevention, Xining, - - 2014
The Yersinia pestis chromosome contains a large variety and number of insert sequences that have resulted in frequent chromosome rearrangement events. To identify the chromosomal rearrangement features of Y. pestis strains from five typical plague foci in China and study spontaneous DNA rearrangements potentially stabilized in certain lineages of Y. ...
Tang Xiaomin X Wageningen UR Plant Breeding, Wageningen University and Research Centre, 6708 PB, Wageningen, The Netherlands, - - 2014
One of the most powerful technologies in unraveling the organization of a eukaryotic plant genome is high-resolution Fluorescent in situ hybridization of repeats and single copy DNA sequences on pachytene chromosomes. This technology allows the integration of physical mapping information with chromosomal positions, including centromeres, telomeres, nucleolar-organizing region, and euchromatin ...
Bakhoum Samuel F SF Radiation Oncology, Memorial Sloan-Kettering Cancer Center - - 2014
Many cancers display both structural (s-CIN) and numerical (w-CIN) chromosomal instabilities. Defective chromosome segregation during mitosis has been shown to cause DNA damage that induces structural rearrangements of chromosomes (s-CIN). In contrast, whether DNA damage can disrupt mitotic processes to generate whole chromosomal instability (w-CIN) is unknown. Here we show ...
Kucharczyk Marzena M Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, - - 2014
We report on a patient with severe psychomotor disability, numerous dysmorphic features, and congenital malformations resulting from a complex genomic rearrangement on 16q24.1-q24.3 involving a de novo duplication-triplication pattern. To the best of our knowledge, this is the first reported patient presenting with this aberration within the distal chromosome 16q. ...
Lambel Shaunese S HM.CLAUSE Seed Company, 9241 Mace Blvd, 95618, Davis, CA, - - 2014
A major quantitative trait locus (QTL) for Fusarium oxysporum Fr. f. sp. niveum race 1 resistance was identified by employing a "selective genotyping" approach together with genotyping-by-sequencing technology to identify QTLs and single nucleotide polymorphisms associated with the resistance among closely related watermelon genotypes. Fusarium wilt is a major disease ...
Nistal Manuel M a Hospital La Paz, Universidad Autónoma de Madrid, - - 2014
Abstract Abstract Abnormalities of the sex chromosomes represent an important group of disorders with impact in testicular pathology. Here we describe in detail the main characteristics of Klinefelter syndrome and its variants, as well as other anomalies involving the X and Y chromosomes.
Soruco Marcela M L MM Department of Molecular Biology, Cellular Biology and Biochemistry, Brown University, Providence, RI, 02912, - - 2014
Dosage compensation adjusts the expression levels of genes on one or both targeted sex chromosomes in heterogametic species. This process results in the normalized transcriptional output of important and essential gene families encoded on multiple chromosomes. The mechanisms of dosage compensation have been studied in many model organisms, including Drosophila ...
Rosenfeld Jill A JA Signature Genomic Laboratories, PerkinElmer, Inc., Spokane, Wash., - - 2014
Background: While microarray testing can identify chromosomal abnormalities missed by karyotyping, its prenatal use is often avoided in low-risk pregnancies due to the possible identification of variants of uncertain significance (VOUS). Methods: We tested 2,970 prenatal samples of all referral indications using a rapid BACs-on-Beads-based assay with probes for sex ...
Li Bing B MDS and MPN Centre, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, 300020, China; State Key Laboratory of Experimental Hematology, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, 300020, - - 2014
To study the feature and prognostic contribution of cytogenetic information in Chinese patients with primary myelofibrosis (PMF), we analyzed cytogenetic data from 565 patients with PMF. One hundred and sixty-two subjects (29%) had abnormal karyotypes, including trisomy 8 (45; 28%), deletion of 20q (25; 15%), deletion of 13q (13; 8%), ...
Lee Song Hee SH Department of Microbiology and Research Institute of Life Sciences, Gyeongsang National University, 900 Gajwa-Dong, Chinju, Korea; Mushroom Research Division, National Institute of Horticultural & Herbal Science, Rural Development Administration, 369-873, Eumseong, - - 2014
Molecular karyotype of Hypsizygus marmoreus has been explored by contour-clamped homogeneous electric field (CHEF) gel electrophoresis. Eleven chromosomal bands were separated from the dikaryotic mycelia of H. marmoreus (strain Hm 3-10), and the sizes of the chromosomes were in the range of 1.9 to 5.8 Mb. The total genome size ...
Chu Lingluo L USTC, - - 2014
Heterochromatin protein 1 alpha (HP1a) is involved in regulation of chromatin plasticity, DNA damage repair and centromere dynamics. HP1a reads histone di-methylation and tri-methylation of Lys9 via its chromo domain. HP1a is localized to heterochromatin in interphase cells but liberated from chromosomal arm at the onset of mitosis. The structure ...
Li Ping P Department of Biological Science, The Florida State University, Tallahassee, FL - - 2014
During meiosis, homologues are linked by crossover, which is required for bipolar chromosome orientation before chromosome segregation at anaphase I. The repetitive ribosomal DNA array, however, undergoes little or no meiotic recombination. Hyper-recombination can cause chromosome mis-segregation and rDNA copy number instability. We report here that condensin, a conserved protein ...
Herman Jacob A JA Department of Biochemistry and Molecular Biology, Colorado State - - 2014
Kinetochores are large protein structures assembled on centromeric DNA during mitosis that bind to microtubules of the mitotic spindle to orchestrate and power chromosome movements. Deregulation of kinetochore-microtubule (KT-MT) attachments has been implicated in driving chromosome instability and cancer evolution; however, the nature and source of KT-MT attachment defects in ...
Kaboli Saeed S Department of Biotechnology, Graduate School of Engineering, Osaka University, 2-1 Yamadaoka, Suita-shi, Osaka 565-0871, - - 2014
Despite systematic approaches to mapping networks of genetic interactions in Saccharomyces cerevisiae, exploration of genetic interactions on a genome-wide scale has been limited. The S. cerevisiae haploid genome has 110 regions that are longer than 10 kb but harbor only non-essential genes. Here, we attempted to delete these regions by ...
Sato Yuya Y Department of Pediatrics, Dokkyo Medical University, Mibu, Tochigi, - - 2014
A 14-yr-old male was admitted to our hospital with MDS and the chromosomal abnormality 45,XY,der(5;17)(p10;q10). He rapidly developed karyotype abnormalities, accompanied by the loss of tumor suppressor gene TP53 function. He suffered an early relapse after reduced-intensity-conditioning SCT and ultimately required myeloablative therapy before a second SCT. We consider that ...
Luo Yuqin Y Department of Reproductive Genetics, Women's Hospital, Zhejiang University School of Medicine , Hangzhou , China - - 2014
Abstract Pericentric inversion can produce recombinant gametes; however, meiotic segregation studies on the relationship between the frequency of recombinants and the inverted segment size are rare. Triple-color fluorescence in situ hybridization (FISH) was performed to analyze the meiotic behavior in five inv(1) carriers with different breakpoints. Recombination gametes were absent ...
Kemeny Stéphan S Univ Clermont 1, UFR Médecine, Cytologie Histologie Embryologie Cytogénétique, Clermont-Ferrand, F-63001, France; CHU Estaing, Cytogénétique Médicale, Clermont-Ferrand, F-63003, France; ERTICa, Univ Clermont 1, UFR Médecine, Clermont-Ferrand, F-63001, France. Electronic address: - - 2014
High proportion of disease-associated copy number variant maps to chromosome 17. Genomic studies have provided an insight into its complex genomic structure such as relative abundance of segmental duplication and intercepted repetitive elements. 17q21.31, 17q11.2 and 17q12 loci are well known on this chromosome and are associated with microdeletion and ...
Mehine Miika M Department of Medical Genetics and Genome-Scale Biology Research Program, University of Helsinki, Helsinki, - - 2014
Uterine leiomyomas are benign smooth-muscle tumors of extremely low malignant potential. Early work utilizing classical cytogenetics revealed that a subset of uterine leiomyomas harbor recurrent chromosomal rearrangements, such as translocations affecting the HMGA2 gene. Our understanding of the genetics of many tumor types has deepened remarkably with the emergence of ...
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