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da Silva Maelin M 1 Programa de Pós Graduação em Genética, Instituto Nacional de Pesquisas da Amazônia , Conservação e Biologia Evolutiva, Manaus, Amazonas, Brazil - - 2014
Abstract Antagonist sexual selection is the driving force behind the origin and diversification of sex chromosomes such as XX/XY and ZZ/ZW. However, chromosome mobility, mainly in fishes, may result in the formation of chromosomes of recent origin, a process known as turnover. The family Gymnotidae, which is composed of the ...
Nonaka Taro T Department of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, - - 2014
To determine the proportion of couples affected by recurrent spontaneous abortion in which one partner carries balanced translocations among three chromosomes. In a retrospective study, G-banded chromosome complements were analyzed for couples affected by recurrent spontaneous abortion who were referred to Niigata University Hospital, Japan, between January 1, 1990, and ...
Vetro Annalisa A Biotechnology Research Laboratory, Fondazione IRCCS San Matteo, Pavia, - - 2014
We report on a male child ascertained at 4.8 years of age with severe growth failure, growth hormone (GH) deficiency, psychomotor delay with prevalent speech impairment, and a distinct phenotype. An evaluation of his hypothalamic-pituitary region by Magnetic Resonance Imaging (MRI) revealed pituitary hypoplasia with pituitary stalk interruption and ectopic posterior ...
Costa Maria Kátia Matiotti Da MK Pontifícia Universidade Católica do Rio Grande do Sul - Faculdade de Biociências - Departamento de Biodiversidade e Ecologia - Laboratório de Entomologia. Av. Ipiranga, 6681 - Partenon -Porto Alegre/RS - CEP: 90619-900, Porto Alegre, RS, Brazil; Email: - - 2014
A new Neotropical genus of Ommatolampidinae belonging to the genus group Ommatolampae Brunner von Wattenwyl, 1893 from Brazilian Atlantic Forest was described, diagnosed, and illustrated. The description was based on the external morphology, as well as genitalia and chromosomal characterization. Muriciacris n. gen. was proposed to include Muriciacris triflavovittata n. ...
Souza Hederson Vinicius De HV Universidade Estadual Paulista (UNESP), Instituto de Biociências, Letras e Ciências Exatas, Departamento de Biologia, Laboratório de Citogenética e Molecular de Insetos, São José do Rio Preto, São Paulo, Brazil - - 2014
Insects of the suborder Heteroptera are known for their odor, for being pests, or for being disease carriers. To gain better insight into the cytogenetic characteristics of heteropterans, 18 species of terrestrial Heteroptera belonging to eight families were studied. The presence of heteropycnotic corpuscles during prophase I, terminal or interstitial ...
Tang Wen-Juan WJ Department of Gastroenterology of Fudan University Children's Hospital, Shanghai 201102, - - 2013
Turner syndrome (TS) is a female chromosomal disorder caused by the lack of an X chromosome. The loss of this chromosome may result in the deficiency of tumor-suppressive or DNA repair genes, leading to tumorigenesis. Recombinant human growth hormone (GH) has been popularly used for treatment in TS patients for ...
Herrera Victoria L M - - 2013
The prevalence of hypertension increases after menopause with 75% of postmenopausal women developing hypertension in the United States, along with hypertensive end organ diseases. While human and animal model studies have indicated a protective role for estrogen against cardiovascular disease and glomerulosclerosis, clinical studies of hormone replacement therapy in postmenopausal ...
Spotorno Angel E - - 2013
A small, new species of gerbil rodents of the genus Eligmodontia from the southwestern dunes of the Atacama Desert in northern Chile is described; the genus had not been reported for this western lowland region. Our description is based on cytogenetic and molecular data, as well as cranial and external ...
Miller Virginia M VM Department of Surgery, Mayo Clinic, Rochester, Minnesota, USA. - - 2013
Menopausal hormone treatment (MHT) may limit progression of cardiovascular disease (CVD) but poses a thrombosis risk. To test targeted candidate gene variation for association with subclinical CVD defined by carotid artery intima-media thickness (CIMT) and coronary artery calcification (CAC), 610 women participating in the Kronos Early Estrogen Prevention Study (KEEPS), ...
Schneider E - - 2012
The human brain is distinguished by its remarkable size, high energy consumption, and cognitive abilities compared to all other mammals and non-human primates. However, little is known about what has accelerated brain evolution in the human lineage. One possible explanation is that the appearance of advanced communication skills and language ...
Hovhannisyan Galina - - 2012
Micronuclei (MN) can be induced by different mutagenic substances. Even though this has been known for decades, it is still not clear which genetic content, especially which chromosomes, these MN are constituted of and if there are any influences on this content by the MN-inducing substance. Also, the interphase position, ...
Mateuca Raluca A - - 2012
Cellular phenotypes can be applied as biomarkers to differentiate normal from abnormal biological -conditions. Several cytogenetic methods have been developed and allow the accurate detection of such phenotypic changes.Based on their mechanisms of formation, cellular phenotypes may be used either as biomarkers of exposure or as biomarkers of effect. Therefore, ...
Gandhi Manoj - - 2011
Rat and mouse have been widely used to estimate the radiation risk and tumorigenic effects of radiation with extrapolating the findings to humans. RET/PTC is a characteristic genetic alteration frequently found in radiation-induced thyroid cancer in human populations. Recently, nuclear architecture and spatial proximity between recombinogenic genes have been implicated ...
Griffin Darren K - - 2011
On August 31, 2011 at the 18th International Chromosome Conference in Manchester, Jenny Graves took on Jenn Hughes to debate the demise (or otherwise) of the mammalian Y chromosome. Sex chromosome evolution is an example of convergence; there are numerous examples of XY and ZW systems with varying degrees of ...
van Oven Mannis - - 2011
The majority of human Y chromosomes in men from East and Southeast Asia, and a considerable proportion of Oceanian men, especially those from Remote Oceania, belong to haplogroup O, characterized by a 5-bp deletion known as M175 (rs2032678). Recent advances in Y-SNP (single-nucleotide polymorphism) discovery have substantially improved the phylogenetic ...
Duncan Andrew W AW Oregon Stem Cell Center, Papé Family Pediatric Research Institute, Oregon Health & Science University, Portland, Oregon, USA. - - 2012
Murine hepatocytes become polyploid and then undergo ploidy reversal and become aneuploid in a dynamic process called the ploidy conveyor. Although polyploidization occurs in some types of human cells, the degree of aneuploidy in human hepatocytes is not known. We isolated hepatocytes derived from healthy human liver samples and determined ...
Kakeda Minoru - - 2011
The use of non-integrating human artificial chromosomes (HACs) in gene therapy possibly allows for safe and reliable genetic modification of human cells without insertional mutagenesis and/or unexpected oncogene activations. Although we previously demonstrated that the HAC provides long-term therapeutic erythropoietin (EPO) production in normal human primary fibroblasts (hPFs), the expression ...
Prada Diddier - - 2011
Satellite sequences are an important part of the pericentromeric regions in mammalian genomes; they play a relevant role in chromosome stability and DNA hypomethylation of these sequences has been reported in ICF syndrome and in some cancers that are closely associated with chromosomal abnormalities. Epigenetic modifications of satellite sequences and ...
Hoshi Osamu - - 2011
A novel technique using the incorporation of 5-ethynyl-2'-deoxyuridine (EdU) into replicating DNA is described for the analysis of replicating banding patterns of human metaphase chromosomes. Human lymphocytes were synchronized with excess thymidine and treated with EdU during the late S phase of the cell cycle. The incorporated EdU was then ...
Türkez Hasan - - 2011
Imazalil (IMA), a commonly used fungicide in both agricultural and clinical domains, is suspected to produce very serious toxic effects on vertebrates. On the other hand, in recent years, a number of studies have suggested that lichens might be easily accessible sources of natural drugs that could be used as ...
Hussin Julie - - 2011
In humans, chromosome-number abnormalities have been associated with altered recombination and increased maternal age. Therefore, age-related effects on recombination are of major importance, especially in relation to the mechanisms involved in human trisomies. Here, we examine the relationship between maternal age and recombination rate in humans. We localized crossovers at ...
Kulminski Alexander M - - 2011
Studies of non-human species show that loci on non-homologous chromosomes can be in linkage disequilibrium (LD). I focus on the Framingham Heart Study (FHS) participants to explore whether the phenomenon of inter-chromosomal LD can be caused by non-stochastic bio-genetic mechanisms in the human genome and be associated with complex, polygenic ...
Ben-David Uri - - 2011
In this study, we assessed the genetic integrity of over 400 samples of human multipotent stem cells using gene expression data sets. Our analysis reveals that neural and mesenchymal stem cells acquire characteristic large chromosomal aberrations at a similar, or somewhat lower, frequency to that seen in pluripotent stem cells, ...
Takumi Toru - - 2011
Autism is a neurodevelopmental disorder that manifests in childhood as social behavioral abnormalities, such as abnormal social interaction, impaired communication, and restricted interest or behavior. Of the known causes of autism, duplication of human chromosome 15q11-q13 is the most frequently associated cytogenetic abnormality. Chromosome 15q11-q13 is also known to include ...
Kettlun Claudia C Department of Medicine, Baylor College of Medicine, Houston, Texas 77030, - - 2011
The ability to direct gene delivery to a user-defined chromosomal location would greatly improve gene transfer applications. The piggyBac transposon system is a nonviral gene transfer system proven effective in a variety of cells and tissues, including human cells. We fused a highly site-specific synthetic zinc-finger DNA-binding domain (ZFP) to ...
Biancotti Juan-Carlos - - 2011
Chromosomal aneuploidies are widely recognized genetic disorders in humans that often lead to spontaneous abortion. Aneuploid fetuses that survive to term commonly exhibit impaired developmental growth and mental retardation in addition to multiple congenital malformations. Preimplantation genetic screening is used to detect chromosomal aneuploidies in early embryos. Human embryonic stem ...
Harper Peter S - - 2011
The 50th anniversary of Mary Lyon's 1961 Nature paper, proposing random inactivation in early embryonic life of one of the two X chromosomes in the cells of mammalian females, provides an opportunity to remember and celebrate the work of those involved. While the hypothesis was initially put forward by Lyon ...
Cruciani Fulvio - - 2011
To shed light on the structure of the basal backbone of the human Y chromosome phylogeny, we sequenced about 200 kb of the male-specific region of the human Y chromosome (MSY) from each of seven Y chromosomes belonging to clades A1, A2, A3, and BT. We detected 146 biallelic variant ...
Gabriel A S AS School of Biosciences, University of Kent, Canterbury CT2 7NJ, - - 2011
Aneuploidy (the presence of extra or missing chromosomes) arises primarily through chromosome segregation errors in the oocyte at meiosis I but the details of mechanism by which such errors occur in humans are the subject of some debate. It is generally believed that aneuploidy arises primarily as a result of ...
Mandegar Mohammad A MA Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, - - 2011
We present a novel and efficient non-integrating gene expression system in human embryonic stem cells (hESc) utilizing human artificial chromosomes (HAC), which behave as autonomous endogenous host chromosomes and segregate correctly during cell division. HAC are important vectors for investigating the organization and structure of the kinetochore, and gene complementation. ...
Reddy Umesh K - - 2011
A diversity array technology (DArT) marker platform was developed for the cotton genome, to evaluate the use of DArT markers compared with AFLP markers in mapping and transferability across the mapping populations. We used a reference genetic map of tetraploid Gossypium L. that already contained ∼5000 loci, which coalesced into ...
Van Inghelandt Delphine - - 2011
Association mapping is based on linkage disequilibrium (LD) resulting from historical recombinations and helps understanding the genetic basis of complex traits. Many factors affect LD and, therefore, it must be determined empirically in the germplasm under investigation to examine the prospects of successful genome-wide association mapping. The objectives of our ...
Martínez-Cruz Begoña - - 2011
The analysis of human Y-chromosome variation in the context of population genetics and forensics requires the genotyping of dozens to hundreds of selected single-nucleotide polymorphisms (SNPs). In the present study, we developed a 121-plex (121 SNPs in a single array) TaqMan array capable of distinguishing most haplogroups and subhaplogroups on ...
Peterson Suzanne E - - 2011
Human pluripotent stem cells (PSCs) hold promise for treating a multitude of diseases. These fascinating cells are unique in their ability to both self-renew and differentiate into cells from all three germ layers. However, PSCs, as well as other cultured cells, are prone to genetic instability. Given the possibility that ...
Hoshi Osamu - - 2011
Methods for atomic force microscopy (AFM) imaging of human metaphase chromosomes were -introduced in the present study. Chromosomes from the lymphocytes were fixed and prepared onto glass slides as the chromosome spread, and observed in phosphate-buffered saline by dynamic mode AFM. On the contrary, chromosomes from the human cell line ...
Homer Hayden - - 2011
The spindle assembly checkpoint (SAC) is a quality control mechanism for overseeing the fidelity of chromosome segregation. By modulating the activity of the anaphase-promoting complex or cyclosome (APC/C), the SAC sets the timing of anaphase-onset by co-ordinating the timely destruction of key proteins with the completion of chromosome alignment. How ...
Colonna Vincenza - - 2011
Genome-wide genotypes and sequences are enriching our understanding of the past 50,000 years of human history and providing insights into earlier periods largely inaccessible to mitochondrial DNA and Y-chromosomal studies.To see a world in a grain of sand ...William Blake, Auguries of Innocence.
Nawata Hisakatsu - - 2011
A change in chromosome number, known as aneuploidy, is a common characteristic of cancer. Aneuploidy disrupts gene expression in human cancer cells and immortalized human epithelial cells, but not in normal human cells. However, the relationship between aneuploidy and cancer remains unclear. To study the effects of aneuploidy in normal ...
Batini Chiara - - 2011
A revised root for the Y chromosome phylogeny further fragments the picture of modern human origins that can be reconstructed from genetic, linguistic and archaeological data.
Véron Amélie S - - 2011
Folding and intermingling of chromosomes has the potential of bringing close to each other loci that are very distant genomically or even on different chromosomes. On the other hand, genomic rearrangements also play a major role in the reorganisation of loci proximities. Whether the same loci are involved in both ...
Porto B - - 2010
Fanconi anaemia (FA) is a cancer-prone chromosome instability syndrome characterized by hypersensitivity to DNA cross-linking agents, such as diepoxybutane (DEB). Previous studies have shown that normal red blood cells (RBC) can protect cultured lymphocytes against chromosomal breaks induced by DEB. The present study was designed to analyse influence of RBCs ...
Korgaonkar Seema - - 2010
Chromosomal breakage investigation using diepoxybutane induction was carried out in 195 pediatric patients suspected with Fanconi anemia (FA). Chromosomal breakage evaluation showed 33 (17%) patients with classical FA, 9 (4%) with somatic mosaicism FA, (when at least 50% of the metaphases showed chromosomal breakage and radial figures), 25 (13%) with ...
Pulliam-Leath Anna C - - 2010
Fanconi anemia (FA) is an inherited chromosomal instability syndrome characterized by bone marrow failure, myelodysplasia (MDS), and acute myeloid leukemia (AML). Eight FA proteins associate in a nuclear core complex to monoubiquitinate FANCD2/FANCI in response to DNA damage. Additional functions have been described for some of the core complex proteins; ...
Upma - - 2010
Anemias are the blood disorders characterized by reduction in the number of circulating red blood cells, the amount of hemoglobin, or the volume of packed red cells in blood. Chromosomal aberrations have often been reported from the bone marrow as well as cultured lymphocytes of the anemic patients. The aims ...
Derheimer Frederick A FA Department of Oncology, St. Jude Children's Research Hospital, Memphis, TN 38105, - - 2010
The ability of our cells to maintain genomic integrity is fundamental for protection from cancer development. Central to this process is the ability of cells to recognize and repair DNA damage and progress through the cell cycle in a regulated and orderly manner. In addition, protection of chromosome ends through ...
Vogel Curt A - - 2010
Nijmegen breakage syndrome (NBS) is a chromosomal breakage disorder with characteristic physical features, chromosomal instability, and combined immunodeficiency. It is closely related to other chromosomal breakage disorders like ataxia telangiectasia. Noninfectious granulomatous inflammation refractory to treatment is a relatively common feature in ataxia telangiectasia. Herein we report a patient with ...
Korgaonkar Seema - - 2010
Fanconi anemia (FA) is a rare autosomal recessive genetic disease, associated with congenital anomalies and a predisposition to cancers. FA patients exhibit spontaneous chromosome breakage and FA cells are sensitive to DNA interstrand crosslink agents and expresses high frequency of chromosome breakage. Recently 13 genes have been shown to be ...
Schoder Christiane - - 2010
Within cytogenetic preparations chromosomal breaks can be observed in patients suffering from Fanconi anemia (FA), a recessively inherited syndrome with an extremely elevated cancer risk, but also in healthy individuals as so-called fragile sites (FS). It is known that FS cytogenetically co-localize with tumor- and evolutionary-conserved chromosomal break-points. The also ...
Kavakli K - - 2010
Radioisotope synovectomy (RS) is defined as the intra-articular injection of radioisotopic agents with the aim of fibrosis on hypertrophic synovium in the target joint. The aim of this study was to investigate genotoxic effects on lymphocytes and malign transformation induced by Yttrium(90) (Y(90)) and Rhenium(186) (Re(186)) in children with haemophilia ...
van de Vrugt Henri J HJ Oregon Stem Cell Center, Oregon Health and Science University, Portland, Oregon, USA. - - 2009
DNA repair defects are frequently encountered in human cancers. These defects are utilized by traditional therapeutics but also offer novel cancer treatment strategies based on synthetic lethality. To determine the consequences of combined Fanconi anemia (FA) and mismatch repair pathway inactivation, defects in Fancd2 and Mlh1 were combined in one ...
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