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Kos Mark Z MZ Department of Genetics, Texas Biomedical Research Institute, San Antonio, - - 2014
Linkage studies of alcoholism have implicated several chromosome regions, leading to the successful identification of susceptibility genes, including ADH4 and GABRA2 on chromosome 4. Quantitative endophenotypes that are potentially closer to gene action than clinical endpoints offer a means of obtaining more refined linkage signals of genes that predispose alcohol ...
Zhou Tong T Institute of Plant Protection, Jiangsu Academy of Agricultural Sciences, Nanjing, - - 2014
The inheritance of resistance to white tip disease (WTDR) in rice (Oryza sativa L.) was analyzed with an artificial inoculation test in a segregating population derived from the cross between Tetep, a highly resistant variety that was identified in a previous study, and a susceptible cultivar. Three resistance-associated traits, including ...
Zuo Lingjun L Departments of aPsychiatry and bGenetics, Yale University School of Medicine cDepartment of Genetics, Yale Center for Genome Analysis, Yale University School of Medicine dDepartment of Biostatistics, Yale University School of Public Health, New Haven, Connecticut eDepartment of Biostatistics and Epidemiology, College of Public Health, East Tennessee State University, Johnson City, Tennessee fMenninger Department of Psychiatry and Behavioral Sciences, Baylor College of Medicine, Houston, Texas, - - 2013
Alcohol dependence is more common among men than among women. Potential explanations for this include the role of genes in sex chromosomes (X and Y). In the present study, we scanned the entire Y chromosome and its homologs on the X chromosome in men to identify male-specific risk genes for ...
Gelernter J J 1] Division of Human Genetics, Department of Psychiatry, Yale University School of Medicine; and VA CT Healthcare Center, West Haven, CT, USA [2] Departments of Genetics and Neurobiology, Yale University School of Medicine, West Haven, CT, - - 2014
We report a GWAS of alcohol dependence (AD) in European-American (EA) and African-American (AA) populations, with replication in independent samples of EAs, AAs and Germans. Our sample for discovery and replication was 16 087 subjects, the largest sample for AD GWAS to date. Numerous genome-wide significant (GWS) associations were identified, many ...
Kapoor Manav - - 2013
Maximum number of alcoholic drinks consumed in a 24-h period (maxdrinks) is a heritable (>50 %) trait and is strongly correlated with vulnerability to excessive alcohol consumption and subsequent alcohol dependence (AD). Several genome-wide association studies (GWAS) have studied alcohol dependence, but few have concentrated on excessive alcohol consumption. We performed ...
Spence John Paul JP Department of Psychiatry, Indiana University School of Medicine, Institute of Psychiatric Research, Indianapolis, IN 46202, - - 2013
The alcohol-preferring (P) and -nonpreferring (NP) rat lines were developed using bidirectional selective breeding for alcohol consumption (g/kg/day) and alcohol preference (water:ethanol ratio). During a preliminary study, we detected a difference in body weight between inbred P (iP) and inbred NP (iNP) rats that appeared to be associated with the ...
Dubose Candis S - - 2013
Alcohol-related responses are under strong genetic regulation. A wealth of alcohol-related data from recombinant inbred (RI) mouse strains enables genetic correlation and mapping of these traits. Previous studies using RI strains have identified numerous chromosomal locations that underlie differential alcohol sensitivity, although the regions identified are typically large. One means ...
Uchida Kenichiro - - 2010
Mucinous adenocarcinoma (MAC) is a rare malignancy in the minor salivary gland. To our knowledge, genomic alterations in this tumor have not been reported previously. To identify DNA copy number aberrations, we applied comparative genomic hybridization (CGH) to four samples of MAC in minor salivary gland derived from two patients: ...
Bosco Nazario - - 2010
Common fragile sites (CFS) are specific regions of the mammalian chromosomes that are particularly prone to gaps and breaks. They are a cause of genome instability, and the location of many CFS correlates with breakpoints of aberrations recurrent in some cancers. The molecular characterization of some CFS has not clarified ...
Pelliccia Franca - - 2010
Genome amplification is often observed in human tumors. The breakage-fusion-bridge (BFB) cycle is the mechanism that often underlies duplicated regions. Some research has indicated common fragile sites (CFS) as possible sites of chromosome breakages at the origin of BFB cycles. Here we searched two human genome regions known as amplification ...
Lai Lisa A LA Department of Pathology,University of Washington, Seattle, WA, - - 2010
Barrett's esophagus (BE) is a premalignant intermediate to esophageal adenocarcinoma, which develops in the context of chronic inflammation and exposure to bile and acid. We asked whether there might be common genomic alterations that could be identified as potential clinical biomarker(s) for BE by whole genome profiling. We detected copy ...
Mrasek Kristin - - 2010
Since the first description of human fragile sites (FS) more than 40 years ago, a variety of substances were reported to induce chromosomal breaks at non-random, breakage-prone regions. According to information available from human genome browsers aphidicolin, an inhibitor of DNA replication induces 77 of 88 known common FS. However, ...
Puliti Aldamaria - - 2010
The 22q11.2 region is a hotspot for chromosomal rearrangements mediated by LCR22A-D low-copy repeats. Sequence motifs and homology-driven mechanisms have been suggested to mediate rearrangements. Nevertheless, recent evidence has emphasized the role of functional properties in genome instability, suggesting that replication timing transition regions could be peculiarly prone to genetic ...
Gandhi M M Department of Pathology and Laboratory Medicine, University of Pittsburgh, Pittsburgh, PA, - - 2010
Human chromosomal fragile sites are regions of the genome that are prone to DNA breakage, and are classified as common or rare, depending on their frequency in the population. Common fragile sites frequently coincide with the location of genes involved in carcinogenic chromosomal translocations, suggesting their role in cancer formation. ...
Vargas-Munar D S F - - 2010
The tendency toward chromosome fragility is one of the theories that may explain chromosome variation in brocket deer species (genus Mazama). We tested doxorubicin as an inducer of chromosome aberrations in lymphocytes of three brocket deer species, Mazama gouazoubira, M. americana and M. nana, compared to the marsh deer, Blastocerus ...
T?lez Mercedes - - 2010
The antihypertensive drug atenolol was found to induce chromosome loss, detected as micronuclei in the peripheral lymphocytes of treated patients. The fundamental question which chromosomes the micronuclei were derived from remains to be answered. Analysis of structural chromosomal aberrations (CAs) and expression of fragile sites (FS) were pursued in this ...
Dobkin Carl - - 2009
The fragile X mutation is an expansion of a CGG triplet repeat in the 5' untranslated region of the FMR1 gene. Expansion to >200 repeats (the "full mutation") silences FMR1 transcription and leads to the fragile X mental retardation syndrome in males and in some females. It also affects the ...
Bermejo Rodrigo - - 2009
Specialized topoisomerases solve the topological constraints arising when replication forks encounter transcription. We have investigated the contribution of Top2 in S phase transcription. Specifically in S phase, Top2 binds intergenic regions close to transcribed genes. The Top2-bound loci exhibit low nucleosome density and accumulate gammaH2A when Top2 is defective. These ...
Chan Kok Lung - - 2009
Several inherited syndromes in humans are associated with cancer predisposition. The gene products defective in two of these disorders, BLM (a helicase defective in Bloom's syndrome) and FANC A-N (defective in Fanconi anaemia), associate in a multienzyme complex called BRAFT. How these proteins suppress tumorigenesis remains unclear, although both conditions ...
Kumari Daman - - 2009
FRAXA is one of a number of fragile sites in human chromosomes that are induced by agents like fluorodeoxyuridine (FdU) that affect intracellular thymidylate levels. FRAXA coincides with a >200 CGG*CCG repeat tract in the 5' UTR of the FMR1 gene, and alleles prone to fragility are associated with Fragile ...
El Sobky, ES; ; ...
Introduction: Fragile X syndrome (FXS) is the most common form of inherited mental retardation and accounts for about one third of all cases of X linked mental retardation (XLMR). It is inherited as an X‑linked dominant trait with a fragile site at Xq27.3 locus named fragile X mental retardation gene ...
Christie Sean B SB Department of Neuroscience, Brown University, Providence, Rhode Island 02912, - - 2009
The loss of Fragile X mental retardation protein (FMRP) causes Fragile X syndrome, the most common inherited mental retardation and single gene cause of autism. Although postsynaptic functions for FMRP are well established, potential roles at the presynaptic apparatus remain largely unexplored. Here, we characterize the expression of FMRP and ...
Voineagu Irina I Department of Biology, Tufts University, 165 Packard Avenue, Medford, Massachusetts 02155, - - 2009
Expanded CGG repeats cause chromosomal fragility and hereditary neurological disorders in humans. Replication forks stall at CGG repeats in a length-dependent manner in primate cells and in yeast. Saccharomyces cerevisiae proteins Tof1 and Mrc1 facilitate replication fork progression through CGG repeats. Remarkably, the fork-stabilizing role of Mrc1 does not involve ...
Reches Adi - - 2009
BACKGROUND: Fragile X syndrome is caused by a CGG triplet-repeat expansion mutation in the FMR1 gene. Previous studies have shown increased transmission of abnormal alleles in the 51-60 repeat range. This study was undertaken to evaluate the performance of preimplantation genetic diagnosis (PGD) for fragile X, and to assess the ...
Mizutani Osamu - - 2009
Disruption of the kexB gene encoding a subtilisin-like processing protease in Aspergillus oryzae and Aspergillus nidulans led to remarkable morphological defects, and these phenotypes were suppressed under hyperosmotic conditions. In this study, we investigated to determine whether non-KexB proteases might complement the in vivo function of KexB in the two ...
Riggs P K - - 2009
Fragile sites are intriguing cytogenetic phenomena that have been extensively investigated in human and laboratory animal chromosomes over the past 40 years, but domestic animal species have been studied sporadically. Interest in the field has been recently renewed as increasing numbers of fragile site regions are cloned and characterized at ...
Chen Wei-Yea - - 2008
Air pollution directional risk (APDR) is an essential factor to be assessed when selecting an appropriate landfill site. Because air pollutants generated from a landfill are diffused and transported by wind in different directions and speeds, areas surrounding the landfill will be subject to different associated risks, depending on their ...
Ali Ahmad - - 2008
An investigation to understand the dynamics and biological significance of fragile site expression, and identification of 5-fluorodeoxyuridine (FUdR) induced chromosomal gaps/breaks, were carried out in an experimental flock of 45 Suffolk sheep. The statistical comparison revealed, highly significant variation in the frequency of chromosomal fragile site expression between control and ...
Oberhuber Christina - - 2008
Allergy to kiwifruit appears to have become more common in Europe and elsewhere during the past several years. Seven allergens have been identified from kiwifruit so far, with actinidin, kiwellin and the thaumatin-like protein as the most relevant ones. In contrast to other fruits, no Bet v 1 homologues were ...
Suzuki Takuji - - 2008
Primary pulmonary alveolar proteinosis (PAP) is a rare syndrome characterized by accumulation of surfactant in the lungs that is presumed to be mediated by disruption of granulocyte/macrophage colony-stimulating factor (GM-CSF) signaling based on studies in genetically modified mice. The effects of GM-CSF are mediated by heterologous receptors composed of GM-CSF ...
Tolar Jakub - - 2009
The recessive dystrophic form of epidermolysis bullosa (RDEB) is a disorder of incurable skin fragility and blistering caused by mutations in the type VII collagen gene (Col7a1). The absence of type VII collagen production leads to the loss of adhesion at the basement membrane zone due to the absence of ...
Kim Hyun-Min - - 2008
Expansion of triplex-forming GAA/TTC repeats in the first intron of FXN gene results in Friedreich's ataxia. Besides FXN, there are a number of other polymorphic GAA/TTC loci in the human genome where the size variations thus far have been considered to be a neutral event. Using yeast as a model ...
Udengwu O S - - 2008
The Allium test was used to study the cytotoxic effects of five commonly abused skin toning creams--Ikb, Tura, Top gel, Dorot and Mililo. These creams are commonly used by some black skinned people (especially the females) as skin lightening (bleaching) agents. The results showed that all the five bleaching creams ...
Yang Yunlei Y Department of Neurology, Mount Sinai School of Medicine, New York, NY 10029, - - 2008
Trafficking of AMPA subtype glutamate receptors (AMPARs) from intracellular compartments to synapses is thought to be a major mechanism underlying the expression of long-term potentiation (LTP), a cellular substrate for learning and memory. However, it remains unclear whether the AMPAR trafficking that takes place during LTP is due to a ...
Chakraborty S Saha - - 2008
The FRAXA locus is flanked by three polymorphic STR markers DXS548, FRAXAC1, and FRAXAC2. Allele frequencies of these markers were determined on a population representing the eastern part of India comprising of 69 normal controls and 69 unrelated subjects with mental retardation, among whom 21 were fragile X patients. These ...
Fleagle John G - - 2008
Cranial and skeletal remains of modern humans, Homo sapiens, were discovered in the Kibish Formation in 1967 by a team from the Kenya National Museums directed by Richard Leakey. Omo I, from Kamoya's Hominid Site (KHS), consists of much of a skeleton, including most of the cranial vault, parts of ...
MacDonald Jacqueline Anne - - 2008
This article reports on a study to quantify expert beliefs about the explosion probability of unexploded ordnance (UXO). Some 1,976 sites at closed military bases in the United States are contaminated with UXO and are slated for cleanup, at an estimated cost of $15-140 billion. Because no available technology can ...
Howitt David - - 2008
The comparison and identification of bullets from the striations that appear on their surfaces, after they have been fired from a gun, have been practiced since the 1920s. Although the significance of the correspondences of these impression marks has been empirically justified, there is a conspicuous absence of any theoretical ...
Kock Dagmar - - 2008
The microbial communities of three different sulfidic and acidic mine waste tailing dumps located in Botswana, Germany, and Sweden were quantitatively analyzed using quantitative real-time PCR (Q-PCR), fluorescence in situ hybridization (FISH), catalyzed reporter deposition-FISH (CARD-FISH), Sybr green II direct counting, and the most probable number (MPN) cultivation technique. Depth ...
Thackway Richard - - 2008
Australian reporting requirements for native vegetation require improved spatial and temporal information on the anthropogenic effects on vegetation. This includes better linkage of information on vegetation type (e.g., native vegetation association), extent and change, vegetation condition, or modification. The Vegetation Assets, States and Transitions (VAST) framework is presented as a ...
Raponi Michela - - 2008
Many disease-causing mutations affecting donor splice site recognition are reported in the literature. One of the more frequently observed nucleotide changes causing aberrant splicing are due to mutations in the donor splice site which lower the strength of base pairing with U1 snRNA (small nuclear RNA). However, recent data have ...
Mann David - - 2008
Passive acoustic recordings were used to study the behavior of red hind (Epinephelus guttatus) at spawning aggregation sites off of Puerto Rico and Mona Island, and goliath grouper (Epinephelus itajara) and red grouper (Epinephelus morio) on the West Florida Shelf. The sounds produced by each species were unique, low-frequency pulsed ...
Haynes C Vance CV - - 2008
Of the 97 geoarchaeological sites of this study that bridge the Pleistocene-Holocene transition (last deglaciation), approximately two thirds have a black organic-rich layer or "black mat" in the form of mollic paleosols, aquolls, diatomites, or algal mats with radiocarbon ages suggesting they are stratigraphic manifestations of the Younger Dryas cooling ...
Coffey Sarah M SM Department of Pediatrics, University of California at Davis Medical Center, Sacramento, California 95817, - - 2008
Fragile X-associated tremor/ataxia syndrome (FXTAS) is generally considered to be uncommon in older female carriers of premutation alleles (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene; however, neither prevalence, nor the nature of the clinical phenotype, has been well characterized in female carriers. In this study, ...
Monir George - - 2008
INTRODUCTION: Complex fractionated atrial electrograms (CFAEs) have been described as a potential target for ablation of atrial fibrillation (AF). The purpose of this study is to assess the consistency of the CFAE phenomena using custom software for automated detection of CFAEs in the left atrium during AF. METHODS AND RESULTS: ...
Sanogo Yibayiri O - - 2008
The identification of the members of the Culex pipiens L. complex in arbovirus surveillance programs relies heavily on the use of morphology. In this work, we studied Cx. pipiens complex male mosquitoes collected from nine different locations, from northern, southern, and the hybrid zone sites in North America; Cairo, Egypt; ...
Demirhan Osman - - 2008
AIM: Alcoholism is a significant public health problem that is also associated with a complex genetic trait. Fragile sites (FS) are potentially informative endpoints for the study of clinical disorders. We aimed to find chromosomal damages in chronic alcohol users for the purpose of finding the correlation between alcohol and ...
Sutherland, Grant Robert
Grant R. Sutherland
Kennison James A - - 2008
INTRODUCTIONAlthough the large polytene chromosomes of diptera were originally described in the late 1880s, it was not until the early 1930s that their significance to the study of the genome of Drosophila was realized. Polytene chromosomes are found in several larval and adult tissues, but preparations are usually made of ...
Nicodemo D - - 2008
The present study reports on the chromosomal expression and localization of aphidicolin-induced fragile sites in the standard karyotype of river buffalo (Bubalus bubalis, 2n = 50) with the aim of establishing a 'fragile site map' of the species. Totally, 400 aphidicolin-induced breakages were analyzed from eight young and clinically healthy ...
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