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Hada Megumi M a  Universities Space Research Association, Houston, Texas - - 2014
The assumption of a linear dose response used to describe the biological effects of high-LET radiation is fundamental in radiation protection methodologies. We investigated the dose response for chromosomal aberrations for exposures corresponding to less than one particle traversal per cell nucleus by high-energy charged (HZE) nuclei. Human fibroblast and ...
Rashid Anila A Department of Pathology and Microbiology, The Aga Khan University Hospital, - - 2014
To determine the frequency of cytogenetic abnormalities in patients diagnosed as primary myelodysplastic syndrome (MDS) using conventional karyotyping. Case series. The Clinical Laboratory, The Aga Khan University Hospital, Karachi, between January 2006 - June 2012. Patients of all ages and either gender who fulfilled WHO criteria for MDS were included. ...
Bade Debora D Zentrum für Molekulare Biologie der Universität Heidelberg (ZMBH), DKFZ-ZMBH-Alliance, University of Heidelberg, Im Neuenheimer Feld 282, 69120 Heidelberg, - - 2014
Centromeres are defined by the presence of the histone H3 variant CENP-A in a subset of centromeric nucleosomes. CENP-A deposition to centromeres depends on a specialized loading factor from yeast to humans that is called CAL1 in Drosophila. Here, we show that CAL1 directly interacts with RDX, an adaptor for ...
Qiao Huanyu H 1] Howard Hughes Medical Institute, University of California, Davis, Davis, California, USA. [2] Department of Microbiology & Molecular Genetics, University of California, Davis, Davis, California, - - 2014
Crossover recombination facilitates the accurate segregation of homologous chromosomes during meiosis. In mammals, poorly characterized regulatory processes ensure that every pair of chromosomes obtains at least one crossover, even though most recombination sites yield non-crossovers. Designation of crossovers involves selective localization of the SUMO ligase RNF212 to a minority of ...
Misiura Agnieszka A Department of Biochemistry and Molecular Biology, The University of Chicago, Chicago, IL, - - 2013
Methicillin-resistant Staphylococcus aureus (MRSA) emerged via acquisition of a mobile element, staphylococcal cassette chromosome mec (SCCmec). Integration and excision of SCCmec is mediated by an unusual site-specific recombination system. Most variants of SCCmec encode two recombinases, CcrA and CcrB, that belong to the large serine family. Since CcrA and CcrB ...
Reynolds April - - 2013
Crossing-over ensures accurate chromosome segregation during meiosis, and every pair of chromosomes obtains at least one crossover, even though the majority of recombination sites yield non-crossovers. A putative regulator of crossing-over is RNF212, which is associated with variation in crossover rates in humans. We show that mouse RNF212 is essential ...
Hoover-Plow Jane - - 2013
Susceptibility to thrombosis varies in human populations as well as many inbred mouse strains. Only a small portion of this variation has been identified, suggesting that there are unknown modifier genes. The objective of this study was to narrow the quantitative trait locus (QTL) intervals previously identified for hemostasis and ...
Desch Karl C - - 2013
The plasma glycoprotein von Willebrand factor (VWF) exhibits fivefold antigen level variation across the normal human population determined by both genetic and environmental factors. Low levels of VWF are associated with bleeding and elevated levels with increased risk for thrombosis, myocardial infarction, and stroke. To identify additional genetic determinants of ...
Markljung Ellen - - 2012
We describe a 3-day-old male infant that was operated on for annular pancreas causing duodenal stenosis. The family history revealed that the mother also underwent surgery as a neonate owing to duodenal stenosis with an annular pancreas. The aim of our study was to perform molecular investigations in this rare ...
Reimann-Berg N - - 2012
For human tumours there are many reports documenting the correlation between chromosome aberrations and tumour entities. Due to the complex canine karyotypic pattern (78 chromosomes), cytogenetic studies of tumours of the dog are rare. However, the reports in the literature show, that canine chromosome 13 (CFA13) is predominantly involved in ...
Kouprina Natalay N Laboratory of Molecular Pharmacology, NCI, NIH, Bethesda, MD, USA. - - 2013
Since their description in the late 1990s, human artificial chromosomes (HACs) carrying a functional kinetochore were considered as a promising system for gene delivery and expression with a potential to overcome many problems caused by the use of viral-based gene transfer systems. Indeed, HACs avoid the limited cloning capacity, lack ...
Capozzi Oronzo - - 2012
Chromosome rearrangements in small apes are up to 20 times more frequent than in most mammals. Because of their complexity, the full extent of chromosome evolution in these hominoids is not yet fully documented. However, previous work with array painting, BAC-FISH, and selective sequencing in two of the four karyomorphs ...
- - 2012
A new multicolor fluorescence in situ hybridization probe set directed against human heterochromatin: HCM-FISH. Maria Bucksch, Monika Ziegler, Nadezda Kosayakova, Milene V. Mulatinho, Juan C. Llerena Jr., Susanne Morlot, Wolfgang Fischer, Anna D. Polityko, Anna I. Kulpanovich, Michael B. Petersen, Britta Belitz, Vladimir Trifonov, Anja Weise, Thomas Liehr, and Ahmed ...
Vanneste Evelyne - - 2012
Early human in vitro fertilized embryos frequently accumulate whole chromosome aneuploidies and segmental imbalances. This embryonic chromosomal instability does not necessarily undermine normal human development, but it may lead to loss of conception, genetic disease, and genetic variation development. In this review we provide an overview of how this instability ...
Maloney Kristin A - - 2012
Human centromeres are defined by megabases of homogenous alpha-satellite DNA arrays that are packaged into specialized chromatin marked by the centromeric histone variant, centromeric protein A (CENP-A). Although most human chromosomes have a single higher-order repeat (HOR) array of alpha satellites, several chromosomes have more than one HOR array. Homo ...
Biancotti Juan Carlos - - 2012
Chromosomal aneuploidies are responsible for severe human genetic diseases. Aiming at creating models for such disorders, we have generated human embryonic stem cell (hESC) lines from pre-implantation genetic screened (PGS) embryos. The overall analysis of more than 400 aneuploid PGS embryos showed a similar risk of occurrence of monosomy or ...
Giussani Marta M Department of Biology and Genetics for Medical Sciences, University of Milan, Milan, Italy. - - 2012
We performed a detailed genomic investigation of the chimpanzee locus syntenic to human chromosome 4q35.2, associated to the facioscapulohumeral dystrophy. Two contigs of approximately 150 kb and 200 kb were derived from PTR chromosomes 4q35 and 3p12, respectively: both regions showed a very similar sequence organization, including D4Z4 and Beta ...
Malyarchuk Boris A - - 2012
As there are ambiguities in classification of the Y-chromosome haplogroup C3c, relatively frequent in populations of Northern Asia, we analyzed all three haplogroup-defining markers M48, M77 and M86 in C3-M217-individuals from Siberia, Eastern Asia and Eastern Europe. We have found that haplogroup C3c is characterized by the derived state at ...
Horakova Andrea H - - 2012
The human X-linked macrosatellite DXZ4 is a large tandem repeat located at Xq23 that is packaged into heterochromatin on the male X chromosome and female active X chromosome and, in response to X chromosome, inactivation is organized into euchromatin bound by the insulator protein CCCTC-binding factor (CTCF) on the inactive ...
Mantikou Eleni - - 2012
Mitotic errors are common in human preimplantation embryos. The occurrence of mitotic errors is highest during the first three cleavages after fertilization and as a result about three quarters of human preimplantation embryos show aneuploidies and are chromosomally mosaic at day three of development. The origin of these preimplantation mitotic ...
Stimpson Kaitlin M - - 2012
Dicentric chromosomes are products of genome rearrangement that place two centromeres on the same chromosome. Depending on the organism, dicentric stability varies after formation. In humans, dicentrics occur naturally in a substantial portion of the population and usually segregate successfully in mitosis and meiosis. Their stability has been attributed to ...
Toga Arthur W AW Laboratory of Neuro Imaging (LONI), Department of Neurology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095-7334, USA. - - 2012
Knowledge of the properties of white matter fiber tracts isa crucial and necessary step toward a precise understanding of the functional architecture of the living human brain. Previously, this knowledge was severely limited, as it was difficult to visualize these structures or measure their functions in vivo. The HCP has ...
Rajcan-Separovic Evica - - 2012
BACKGROUNDChromosome microarray (CMA) testing allows automatic and easy identification of large chromosomal abnormalities detectable by conventional cytogenetics as well as the detection of submicroscopic chromosomal imbalances.METHODSA PubMed search was performed in order to review the current use of CMA testing in the field of human reproduction. Articles discussing the use ...
Marchio Agnès - - 2012
Chromosomal instability (CIN) is frequently associated with a poor outcome in human carcinomas. The genomes of the main human malignancies are well defined as hundreds of tumors have been characterized by arrays. Targeting the appropriate chromosomes with set of markers appears as a realistic approach for CIN assessment. We decided ...
Rothe Jessica - - 2012
Current human genome databases for public single nucleotide polymorphisms (SNPs) still contain a substantial fraction of false entries. The main reasons for errors include sequencing or assembly errors, paralogous sequence-, and private variants. In the course of our studies on the Y chromosome, we established a set of internal laboratory ...
Khan Bushra - - 2012
Chondroectodermal dysplasias are genetically heterogeneous group of disorders involving defects in one or more ectodermal appendages (hair, nail, teeth and sweat glands) in association with anomalies of the cartilage. In the present study a novel form of chondroectodermal dysplasia, segregating in an autosomal recessive pattern in a Pakistani family, was ...
Lacau Harlette - - 2012
Central Asia has served as a corridor for human migrations providing trading routes since ancient times. It has functioned as a conduit connecting Europe and the Middle East with South Asia and far Eastern civilizations. Therefore, the study of populations in this region is essential for a comprehensive understanding of ...
Bucksch Maria - - 2012
A new multicolor fluorescence in situ hybridization (mFISH) probe set is presented, and its possible applications are highlighted in 25 clinical cases. The so-called heterochromatin-M-FISH (HCM-FISH) probe set enables a one-step characterization of the large heterochromatic regions within the human genome. HCM-FISH closes a gap in the now available mFISH ...
Hughes Jennifer F - - 2012
In mammals, the Y chromosome plays the pivotal role in male sex determination and is essential for normal sperm production. Yet only three Y chromosomes have been completely sequenced to date-those of human, chimpanzee, and rhesus macaque. While Y chromosomes are notoriously difficult to sequence owing to their highly repetitive ...
Annunziata Clorinda - - 2012
Oncogenic HPVs have been found frequently integrated into human genome of invasive cancers and chromosomal localization has been extensively investigated in cervical carcinoma. Few studies have analyzed the HPV integration loci in other genital cancers. We have characterized the integration sites of HPV16 in invasive penile carcinoma by means of ...
Paik Young-Ki - - 2012
The objective of the international Chromosome-Centric Human Proteome Project (C-HPP) is to map and annotate all proteins encoded by the genes on each human chromosome. The C-HPP consortium was established to organize a collaborative network among the research teams responsible for protein mapping of individual chromosomes and to identify compelling ...
Liu Pengfei P Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, - - 2012
During the last two decades, the importance of human genome copy number variation (CNV) in disease has become widely recognized. However, much is not understood about underlying mechanisms. We show how, although model organism research guides molecular understanding, important insights are gained from study of the wealth of information available ...
Ventura Mario M Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, - - 2012
Chimpanzee and gorilla chromosomes differ from human chromosomes by the presence of large blocks of subterminal heterochromatin thought to be composed primarily of arrays of tandem satellite sequence. We explore their sequence composition and organization and show a complex organization composed of specific sets of segmental duplications that have hyperexpanded ...
Uroz L - - 2012
BACKGROUNDIn humans, little is known about the mechanisms of non-disjunction working in male meiosis, although considerable attention has been given to these mechanisms in female meiosis. The present study explores the origin of meiotic non-disjunction during human spermatogenesis and the chromosomes most commonly involved in this process.METHODSWe used Multiplex fluorescence ...
Flor Inga - - 2012
MicroRNAs are a class of macromolecules of rapidly emerging significance for the pathogenesis of numerous human diseases including cancer. Moreover, many of them hold great promise as valid biomarkers because of their high extracellular stability. Chromosome 19 harbours the largest cluster of microRNA genes known so far which has developed ...
Hughes Jennifer F JF Howard Hughes Medical Institute, Department of Biology, Massachusetts Institute of Technology, 9 Cambridge Center, Cambridge, Massachusetts 02142, USA. - - 2012
The human X and Y chromosomes evolved from an ordinary pair of autosomes during the past 200-300 million years. The human MSY (male-specific region of Y chromosome) retains only three percent of the ancestral autosomes' genes owing to genetic decay. This evolutionary decay was driven by a series of five ...
Müller M H - - 2012
The results of cytogenetic and molecular cytogenetic investigations revealed similarities in genetic background and biological behaviour between tumours and genetic diseases of humans and dogs. These findings classify the dog a good and accepted model for human cancers such as osteosarcomas, mammary carcinomas, oral melanomas and others. With the appearance ...
Nishino Yoshinori Y RIKEN SPring-8 Center, Hyogo, - - 2012
How a long strand of genomic DNA is compacted into a mitotic chromosome remains one of the basic questions in biology. The nucleosome fibre, in which DNA is wrapped around core histones, has long been assumed to be folded into a 30-nm chromatin fibre and further hierarchical regular structures to ...
Li Ning N The Battelle Center for Mathematical Medicine, The Research Institute at Nationwide Children's Hospital, Columbus, OH 43205, - - 2012
Language is a uniquely human trait, which poses limitations on animal models for discovering biological substrates and pathways. Despite this challenge, rapidly developing biotechnology in the field of genomics has made human genetics studies a viable alternative route for defining the molecular neuroscience of human language. This is accomplished by ...
Kulminski Alexander M AM Center for Population Health and Aging, Duke University, Box 90408, Trent Hall, Room 002, Durham, NC 27708, USA. - - 2013
Studies focusing on unraveling the genetic origin of health span in humans assume that polygenic, aging-related phenotypes are inherited through Mendelian mechanisms of inheritance of individual genes. We use the Framingham Heart Study (FHS) data to examine whether non-Mendelian mechanisms of inheritance can drive linkage of loci on non-homologous chromosomes ...
Hvilsom Christina - - 2012
Surveying genome-wide coding variation within and among species gives unprecedented power to study the genetics of adaptation, in particular the proportion of amino acid substitutions fixed by positive selection. Additionally, contrasting the autosomes and the X chromosome holds information on the dominance of beneficial (adaptive) and deleterious mutations. Here we ...
Migdalska Anna M - - 2012
[This corrects the article on p. e29681 in vol. 7.].
Yang Qing - - 2012
A genetic component to the etiology of leprosy is well recognized but the mechanism of inheritance and the genes involved are yet to be fully established. A genome-wide single nucleotide polymorphism (SNP) based linkage analysis was carried out using 23 pedigrees, each with 3 to 7 family members affected by ...
Azevedo Nathália F - - 2012
Xenarthra (sloths, armadillos and anteaters) represent one of four currently recognized Eutherian mammal supraorders. Some phylogenomic studies point to the possibility of Xenarthra being at the base of the Eutherian tree, together or not with the supraorder Afrotheria. We performed painting with human autosomes and X-chromosome specific probes on metaphases ...
Ji Zhiying Z Genes and Environment Laboratory, University of California, Berkeley, - - 2012
Fluorescence in situ hybridization (FISH) is a technique that allows specific DNA sequences to be detected on metaphase or interphase chromosomes in cell nuclei(1). The technique uses DNA probes with unique sequences that hybridize to whole chromosomes or specific chromosomal regions, and serves as a powerful adjunct to classic cytogenetics. ...
Sabina Yeasmin - - 2011
Although Yersinia enterocolitica is usually transmitted through contaminated food and untreated water, occasional transmission such as human-to-human, animal-to-human and blood transfusion associated transmission have also identified in human disease. Of the six Y. enterocolitica biotypes, the virulence of the pathogenic biotypes, namely, 1B and 2-5 is attributed to the presence ...
Alves B C A - - 2010
Sex pre-selection of bovine offsprings has commercial relevance for cattle breeders and several methods have been used for embryo sex determination. Polymerase chain reaction (PCR) has proven to be a reliable procedure for accomplishing embryo sexing. To date, most of the PCR-specific primers are derived from the few single-copy Y-chromosome-specific ...
De Wulf Peter - - 2010
The EMBO 2010 Workshop on Chromosome Segregation and Aneuploidy, held between 19 and 23 June at Edinburgh University's Royal College of Surgeons, highlighted basic mitotic mechanisms, chromosome-based defects linked to human diseases and the processes that connect them.
Garcia-Etxebarria Koldo - - 2010
Endogenous retroviruses (ERVs) are the proviral phase of exogenous retroviruses that become integrated into a host germ line. They can play an important role in the host genome. Bioinformatic tools have been used to detect ERVs in several vertebrates, primarily primates and rodents. Less information is available regarding ERVs in ...
Cheng Yi-Chang - - 2010
In this paper, a TSK-type neuro-fuzzy system with multi groups cooperation based symbiotic evolution method (TNFS-MGCSE) is proposed. The TNFS-MGCSE is developed from symbiotic evolution. The symbiotic evolution is different from traditional GAs (genetic algorithms) that each chromosome in symbiotic evolution represents a rule of fuzzy model. The MGCSE is ...
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