Search Results
Results 1 - 50 of 5918
1 2 3 4 5 6 7 8 9 10 >
Deng Xinxian X Department of Pathology, School of Medicine, University of Washington, 1959 NE Pacific Street, Seattle, Washington 98115, - - 2014
Genes on the mammalian X chromosome are present in one copy in males and two copies in females. The complex mechanisms that regulate the X chromosome lead to evolutionary and physiological variability in gene expression between species, the sexes, individuals, developmental stages, tissues and cell types. In early development, delayed ...
Grandont Laurie L INRA, UMR1318, Institut Jean-Pierre Bourgin, F-78000 Versailles, - - 2014
Meiotic recombination is the fundamental process that produces balanced gametes and generates diversity within species. For successful meiosis, crossovers must form between homologous chromosomes. This condition is more difficult to fulfill in allopolyploid species, which have more than two sets of related chromosomes (homoeologs). Here, we investigated the formation, progression, ...
Mathew Lisa S - - 2014
The date palm is one of the oldest cultivated fruit trees. It is critical in many ways to cultures in arid lands by providing highly nutritious fruit while surviving extreme heat and environmental conditions. Despite its importance from antiquity, few genetic resources are available for improving the productivity and development ...
Yin Aihua - - 2014
Array-based comparative genomic hybridization possesses a number of significant advantages over conventional cytogenetic and other molecular cytogenetic techniques, providing a sensitive and comprehensive detection platform for unexpected imbalances in the genome wide. The newborn proband, demonstrated with craniofacial dysmorphism and multiple malformations, was born to a family with spontaneous abortions. ...
Han Chang C Commonwealth Scientific and Industrial Research Organization Plant Industry, GPO Box 1600, Canberra ACT 2601, - - 2014
Background and AimAluminium (Al(3+)) inhibits root growth of sensitive plant species and is a key factor that limits durum wheat (Triticum turgidum) production on acid soils. The aim of this study was to enhance the Al(3+) tolerance of an elite durum cultivar by introgression of a chromosomal fragment from hexaploid ...
Piovani Giovanna - - 2014
We report on a nine years old girl born after 41 weeks of normal gestation with psychomotor retardation, speech delay and minimal dysmorphic signs: antimongolic cut eyes, small mouth, short philtrum and hypertelorism. The use of the high-resolution Affymetrix Human Mapping GeneChip 250 K NspI array allowed the characterization of ...
Gushchanskaya Ekaterina S ES Institute of Gene Biology; Russian Academy of Sciences; Moscow, Russia; Department of Molecular Biology; Lomonosov Moscow State University; Moscow, Russia; LIA 1066 French-Russian Joint Cancer Research Laboratory; Villejuif, France and Moscow, - - 2014
We used the 4C-Seq technique to characterize the genome-wide patterns of spatial contacts of several CpG islands located on chromosome 14 in cultured chicken lymphoid and erythroid cells. We observed a clear tendency for the spatial clustering of CpG islands present on the same and different chromosomes, regardless of the ...
Camps Jordi J *Section of Cancer Genomics, Genetics Branch, National Cancer Institute, and †Genome Technology Branch, National Human Genome Research Institute, U.S. National Institutes of Health, Bethesda, Maryland, - - 2014
Nuclear lamin B1 (LMNB1) constitutes one of the major structural proteins in the lamina mesh. We silenced the expression of LMNB1 by RNA interference in the colon cancer cell line DLD-1 and showed a dramatic redistribution of H3K27me3 from the periphery to a more homogeneous nuclear dispersion. In addition, we ...
Timoshevskiy Vladimir A - - 2014
An initial comparative genomic study of the malaria vector Anopheles gambiae and the yellow fever mosquito Aedes aegypti revealed striking differences in the genome assembly size and in the abundance of transposable elements between the two species. However, the chromosome arms homology between An. gambiae and Ae. aegypti, as well ...
Dan Jiameng J State Key Laboratory of Medicinal Chemical Biology, Department of Cell Biology and Genetics, College of Life Sciences, Nankai University, Tianjin 300071, - - 2014
Telomere length homeostasis is essential for genomic stability and unlimited self-renewal of embryonic stem cells (ESCs). We show that telomere-associated protein Rif1 is required to maintain telomere length homeostasis by negatively regulating Zscan4 expression, a critical factor for telomere elongation by recombination. Depletion of Rif1 results in terminal hyperrecombination, telomere ...
Türkmen Seval S Labor Berlin, Tumorzytogenetik, Berlin, Germany; Institut für Medizinische Genetik und Humangenetik, Charité, CVK, Berlin, - - 2014
Multiple myeloma (MM) is a malignant B-cell neoplasm characterized by an uncontrolled proliferation of aberrant plasma cells in the bone marrow. Chromosome aberrations in MM are complex and represent a hallmark of the disease, involving many chromosomes that are altered both numerically and structurally. Nearly half of the cases are ...
Thorsson Thor T Department of Pediatrics and Communicable Diseases, Division of Pediatric Cardiology, University of Michigan, Ann Arbor, Mich, - - 2014
Congenital cardiac defects represent the most common group of birth defects, affecting an estimated six per 1000 births. Genetic characterization of patients and families with cardiac defects has identified a number of genes required for heart development. Yet, despite the rapid pace of these advances, mutations affecting known genes still ...
Kupershmit Ilana I Department of Biology, Technion, Israel Institute of Technology, Haifa 3200003, - - 2014
Various types of human cancers exhibit amplification or deletion of KDM4A-D members, which selectively demethylate H3K9 and H3K36, thus implicating their activity in promoting carcinogenesis. On this basis, it was hypothesized that dysregulated expression of KDM4A-D family promotes chromosomal instabilities by largely unknown mechanisms. Here, we show that unlike KDM4A-B, ...
Tiwari Vijay K - - 2014
Monitoring alien introgressions in crop plants is difficult due to the lack of genetic and molecular mapping information on the wild crop relatives. The tertiary gene pool of wheat is a very important source of genetic variability for wheat improvement against biotic and abiotic stresses. By exploring the 5Mg short ...
Voskarides Konstantinos K 1 Laboratory of Molecular and Medical Genetics, Department of Biological Sciences, Molecular Medicine Research Center, University of Cyprus , Nicosia, Cyprus - - 2014
Diseases such as atherosclerosis and coronary artery disease demonstrate disparate population prevalence or present with variable severity in men and women. While the usual explanation points to hormonal status, the role of the Y chromosome has been implicated, but not sufficiently studied. We genotyped six markers of the male-specific region ...
Sahoo Trilochan T Quest Diagnostics Nichols Institute, San Juan Capistrano, CA, - - 2014
Whole-genome oligonucleotide single-nucleotide polymorphism (oligo-SNP) arrays enable simultaneous interrogation of copy number variations (CNVs), copy neutral regions of homozygosity (ROH) and uniparental disomy (UPD). Structural variation in the human genome contributes significantly to genetic variation, and often has deleterious effects leading to disease causation. Co-occurrence of CNV and regions of ...
Joo Jihoon Eric JE Cancer and Disease Epigenetics, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, - - 2014
The phenomenon of X chromosome inactivation in female mammals is well characterised and remains the archetypal example of dosage compensation via monoallelic expression. The temporal series of events that culminates in inactive X-specific gene silencing by DNA methylation has revealed a 'patchwork' of gene inactivation along the chromosome, with approximately ...
Reig-Viader Rita - - 2014
Telomeres are ribonucleoprotein structures at the end of chromosomes composed of telomeric DNA, specific-binding proteins and noncoding RNA (TERRA). Despite their importance in preventing chromosome instability, little is known about the crosstalk between these three elements during the formation of the germ line. Here, we provide evidence that both TERRA ...
van Steensel Bas B Division of Gene Regulation; Netherlands Cancer Institute; Amsterdam, the - - 2014
The nuclear lamina (NL) is thought to aid in the spatial organization of interphase chromosomes by providing an anchoring platform for hundreds of large genomic regions named lamina associated domains (LADs). Recently, a new live-cell imaging approach demonstrated directly that LAD-NL interactions are dynamic and in part stochastic. Here we ...
Jiang Liang L State Key Laboratory of Silkworm Genome Biology, Southwest University, Chongqing 400715, P. R. China; College of Biotechnology, Southwest University, Chongqing 400715, P. R. - - 2014
The piggyBac transposon is the most widely used vector for generating transgenic silkworms. The silkworm genome contains multiple piggyBac-like sequences that might influence the genetic stability of transgenic lines. To investigate the postintegration stability of piggyBac in silkworms, we used random insertion of the piggyBac [3×p3 EGFP afm] vector to ...
Iannuzzi Alessandra A National Research Council (CNR-ISPAAM), Laboratory of Animal Cytogenetics and Gene Mapping, Naples, - - 2014
Local sheep breeders and scientists in Italy cooperate and conduct research on the genetic improvement of autochthonous genetic types (AGTs) by various approaches, including a cytogenetic breeding selection since 2011. The Laticauda sheep (Ovis aries, 2n = 54) breed is one of the AGTs reared in the Campania region (southern ...
Shavit Yoli Y Computer Laboratory, University of Cambridge, Cambridge, CB3 0FD, UK. ys388@cam.ac.uk - - 2014
Over the past few decades we have witnessed great efforts to understand the cellular function at the cytoplasm level. Nowadays there is a growing interest in understanding the relationship between function and structure at the nuclear, chromosomal and sub-chromosomal levels. Data on chromosomal interactions that are now becoming available in ...
Glick Lior L Department of Molecular Biology and Ecology of Plants, Tel Aviv University, Tel Aviv, - - 2014
We announce the release of chromEvol version 2.0, a software tool for inferring the pattern of chromosome number change along a phylogeny. The software facilitates the inference of the expected number of polyploidy and dysploidy transitions along each branch of a phylogeny, and estimates ancestral chromosome numbers at internal nodes. ...
Biros Erik - - 2014
Current efforts to identify the genetic contribution to abdominal aortic aneurysm (AAA) have mainly focused on the assessment of germ-line variants such as single nucleotide polymorphisms. The aim of the current study was to assess the presence of acquired chromosomal aberrations in human AAA. Microarray data of 10 biopsies obtained ...
Thacker Drew D 1] Molecular Biology Program, Memorial Sloan-Kettering Cancer Center, New York, New York 10065, USA [2] Weill Graduate School of Medical Sciences of Cornell University, New York, New York 10065, - - 2014
Meiotic recombination promotes genetic diversification as well as pairing and segregation of homologous chromosomes, but the double-strand breaks (DSBs) that initiate recombination are dangerous lesions that can cause mutation or meiotic failure. How cells control DSBs to balance between beneficial and deleterious outcomes is not well understood. Here we test ...
Bingöl Günsel G Faculty of Engineering and Natural Sciences, Yıldırım Beyazıt University, PO Box 06050, Ankara, Turkey. Electronic address: - - 2014
This study investigated the effects of resveratrol (RES) on doxorubicin (DXR) induced rat bone marrow cell chromosome aberrations. RES, a polyphenolic compound, has attracted considerable attention because of its antioxidant and antimutagenic effects. DXR, a chemotherapeutic agent, is known to cause chromosomal aberrations in healthy cells in cancer patients. In ...
Guilherme S S Department of Biology and CESAM, University of Aveiro, 3810-193, Aveiro, Portugal, - - 2014
The assessment of the direct impact of breakdown products of pesticide components on aquatic wildlife is ecotoxicologically relevant, but frequently disregarded. In this context, the evaluation of the genotoxic hazard posed by aminomethylphosphonic acid (AMPA-the major natural degradation product of glyphosate) to fish emerges as a critical but unexplored issue. ...
Kuijt Timo E F TE Molecular Cancer Research, University Medical Center Utrecht, 3584 CG, Utrecht, The - - 2014
Fidelity of chromosome segregation is monitored by the spindle assembly checkpoint (SAC). Key components of the SAC include MAD1, MAD2, BUB1, BUB3, BUBR1, and MPS1. These proteins accumulate on kinetochores in early prometaphase but are displaced when chromosomes attach to microtubules and/or biorient on the mitotic spindle. As a result, ...
Du Wanli W Shaanxi Key Laboratory of Genetic Engineering for Plant Breeding, College of Agronomy, Northwest A&F University, Yangling, 712100, Shaanxi, China, - - 2014
We characterized a wheat-Psathyrostachys huashanica derived line 3-6-4-1 based on genomic in situ hybridization (GISH), molecular marker analysis, and agronomic trait evaluations. The GISH investigations showed that the 3-6-4-1 contained 42 wheat chromosomes and a pair of P. huashanica chromosomes. The homoeologous relationships of the introduced P. huashanica chromosomes were ...
You G - - 2014
Intron 1 inversion (Inv1) is a recurrent causative mutation of haemophilia A (HA) and is responsible for 1-5% of severe HA. Inv1 occurs as a result of intra-chromosomal homologous recombination between int1h-1 within intron 1 and int1h-2 located in approximately 125 kb telomeric to the F8 gene. In this report, ...
Lithgow Pamela E PE School of Biosciences, University of Kent, Canterbury, CT2 7AF, - - 2014
Avian genome organisation is characterised, in part, by a set of microchromosomes that are unusually small in size and unusually large in number. Although containing about a quarter of the genome, they contain around half the genes and three quarters of the total chromosome number. Nonetheless, they continue to belie ...
Guilherme Roberta Santos RS Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, - - 2014
We report here on six patients with a ring chromosome 22 and the range of cytogenetic and phenotypic features presented by them. Genomic analysis was carried out using classical and molecular cytogenetics, MLPA (Multiplex Ligation-dependent Probe Amplification) and genome-wide SNP-array analysis. The ring was found in all patients, but Patient ...
Pandit Maharaj K MK Department of Environmental Studies, Centre for Inter-disciplinary Studies of Mountain & Hill Environment, University of Delhi, Delhi, 110007, - - 2014
Understanding how species' traits relate to their status (e.g. invasiveness or rarity) is important because it can help to efficiently focus conservation and management effort and infer mechanisms affecting plant status. This is particularly important for invasiveness, in which proactive action is needed to restrict the establishment of potentially invasive ...
Marotta Roberto - - 2014
Tubifex tubifex is a widespread annelid characterized by considerable variability in its taxonomic characteristics and by a mixed reproductive strategy, with both parthenogenesis and biparental reproduction. In a molecular phylogenetic analysis, we detected substantial genetic variability among sympatric Tubifex spp. from the Lambro River (Milano, Italy), which we suggested comprise ...
Cui Y-X YX Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine, Nanjing, - - 2014
In this study, a short stature male with infertility is reported. Semen analysis and serum concentrations of FSH, LH, T and PRL were estimated. Chromosome analysis was performed on lymphocytes obtained from both the male and his parents. Cytogenomic studies were performed by fluorescent in situ hybridisation and the CytoScan(™) ...
Amores Angel A University of - - 2014
Mammalian genomes can vary substantially in haploid chromosome number even within a small taxon (e.g., 3-40 among deer alone); in contrast teleost fish genomes are stable (24-25 in 58% of teleosts), but we don't yet understand the mechanisms that account for differences in karyotype stability. Among perciform teleosts, platyfish (Xiphophorus ...
Gröschel Stefan S Department of Hematology, Erasmus University Medical Center, Rotterdam, 3015 GE, the Netherlands; Department of Internal Medicine III, Ulm University Hospital, 89081 Ulm, - - 2014
Chromosomal rearrangements without gene fusions have been implicated in leukemogenesis by causing deregulation of proto-oncogenes via relocation of cryptic regulatory DNA elements. AML with inv(3)/t(3;3) is associated with aberrant expression of the stem-cell regulator EVI1. Applying functional genomics and genome-engineering, we demonstrate that both 3q rearrangements reposition a distal GATA2 enhancer ...
Yamazaki Hiromi H Department of Medical Biochemistry, Tohoku University Graduate School of Medicine, Sendai 980-8575, - - 2014
Chromosomal inversion between 3q21 and 3q26 results in high-risk acute myeloid leukemia (AML). In this study, we identified a mechanism whereby a GATA2 distal hematopoietic enhancer (G2DHE or -77-kb enhancer) is brought into close proximity to the EVI1 gene in inv(3)(q21;q26) inversions, leading to leukemogenesis. We examined the contribution of ...
Leyva-Madrigal Karla Y KY Instituto Politécnico Nacional, Centro Interdisciplinario de Investigación para el Desarrollo Integral Regional (CIIDIR)-Unidad Sinaloa, Blvd. Juan de Dios Bátiz Paredes #250, Col. San Joachin, 81101, Guasave, Sinaloa, Mexico. Electronic address: - - 2014
Improved population studies in the diverse phytopathogenic fungus Fusarium verticillioides require the development of reliable microsatellite markers. To respond to this need, we have investigated microsatellite distribution by in silico mining of the available DNA sequences from 11 out of the 12 chromosomes in the F. verticillioides genome, using the ...
van der Kamp H J HJ Department of Pediatrics, Leiden University Medical Center, Leiden, The - - 2014
Background: Most isodicentric (Xp) and (Xq) chromosomes occur as a mosaic with a 45,X cell line. Patients with a nonmosaic 46,X,idic(Xq) are rare. Cases: The first girl was referred at 13 years with a short stature and pubertal delay (M1, P2, A1). Her height was 141.6 cm (-3.1 SDS). Ovarian ...
Nakayama Yuji Y Department of Biochemistry and Molecular Biology, Kyoto Pharmaceutical University, Kyoto, 607-8414, Japan; Department of Molecular Cell Biology, Graduate School of Pharmaceutical Sciences, Chiba University, Chiba, 260-8675, - - 2014
Genistein, an isoflavone abundantly present in soybeans, possesses anticancer properties and induces growth inhibition including cell cycle arrest and apoptosis. Although abnormal cell division, such as defects in chromosome segregation and spindle formation, and polyploidization have been described, the mechanisms underlying the induction of abnormal cell division are unknown. In ...
Choy Richard Kwong Wai RK Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong, - - 2014
Karyotyping, the gold standard used for diagnosis of chromosomal abnormalities, is being progressively replaced by rapid aneuploidy testing (RAT) techniques such as quantitative fluorescence-PCR, FISH and multiplex ligation-dependent probe amplification for diagnosing the common aneuploidies or chromosomal microarray analysis for comprehensive genome-wide testing. However, due to technical limitations, current RATs ...
Bakhirev Alexei G AG From the Department of Pathology, University of New Mexico Health Sciences Center, Albuquerque. Dr Reichard is now with the Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, - - 2014
Context.-BCL6 translocations are a frequent finding in B-cell lymphomas of diverse subtypes, including some cases of nodular lymphocyte-predominant Hodgkin lymphoma (NLPHL). However, reliable analysis of BCL6 rearrangements using fluorescence in situ hybridization is difficult in NLPHL because of the relative paucity of neoplastic cells. Combined immunofluorescence microscopy and fluorescence in ...
Fredua-Agyeman Rudolph R Department of Agricultural, Food and Nutritional Science, University of Alberta, Edmonton, AB, T6G 2P5, - - 2014
Provide evidence that the Brassica B genome chromosome B3 carries blackleg resistance gene, and also the B genome chromosomes were inherited several generations along with B. napus chromosomes. Blackleg disease caused by fungus Leptosphaeria maculans causes significant yield losses in Brassica napus. Brassica carinata possesses excellent resistance to this disease. ...
Roukos Vassilis V National Cancer Institute, Bethesda, Maryland 20892, - - 2014
Chromosome translocations are catastrophic genomic events and often play key roles in tumorigenesis. Yet the biogenesis of chromosome translocations is remarkably poorly understood. Recent work has delineated several distinct mechanistic steps in the formation of translocations, and it has become apparent that non-random spatial genome organization, DNA repair pathways and ...
Ivyna Bong Pau Ni - - 2014
Multiple myeloma is an incurable disease. Little is known about the genetic and molecular mechanisms governing the pathogenesis of multiple myeloma. The risk of multiple myeloma predispositions varies among different ethnicities. More than 50% of myeloma cases showed normal karyotypes with conventional cytogenetic analysis due to the low mitotic activity ...
Zilina Olga O Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Department of Biotechnology, Institute of Molecular and Cell Biology, University of Tartu, Tartu, - - 2014
Prader-Willi syndrome (PWS) is caused by the lack of paternal expression of imprinted genes in the human chromosomal region 15q11.2-q13.2, which can be due to an interstitial deletion at 15q11.2-q13 of paternal origin (65-75%), maternal uniparental disomy (matUPD) of chromosome 15 (20-30%), or an imprinting defect (1-3%). The majority of ...
Spittel Hannes H Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Jena, - - 2014
Small supernumerary marker chromosomes (sSMC) are known for being present in mosaic form as 47,+mar/46 in >50% of the cases with this kind of extra chromosomes. However, no detailed studies have been done for the mitotic stability of sSMC so far, mainly due to the lack of a corresponding in ...
- - 2014
[This corrects the article DOI: 10.1371/journal.pgen.1004165.].
Tapia-Alveal Claudia C Departments of Oncological Sciences and Genetics and Genomic - - 2014
Structural Maintenance of Chromosomes (SMC) complexes and DNA topoisomerases are major determinants of chromosome structure and dynamics. The cohesin complex embraces sister chromatids throughout interphase, but during mitosis most cohesin is stripped from chromosome arms by early prophase, while the remaining cohesin at kinetochores is cleaved at anaphase. This two-step ...
1 2 3 4 5 6 7 8 9 10 >